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1. Patient and public involvement in the design of an international clinical trial: real world experience

Author: Simons, Gwenda, Jones, Helen, Clarke, Ian, Davies, Firoza, Grealis, Stacey, Insch, Elspeth, Kahn, Hameed, Lloyd, Joanne, Richards, Al, Rose, Hayley, Williams, Ruth, de Wit, Maarten, Woodcock, Clarissa, Romaniuk, Leigh, Bardgett, Michelle, Pratt, Arthur G., and Falahee, Marie
Published: 2024
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2. Distinguishing emotional distress from mental disorder: A qualitative exploration of the Four-Dimensional Symptom Questionnaire (4DSQ)

Author: Geraghty, Adam W A, primary, Holt, Sian, additional, Chew-Graham, Carolyn A., additional, Santer, Miriam, additional, Moore, Michael, additional, Kendrick, Tony, additional, Terluin, Berend, additional, Little, Paul, additional, Stuart, Beth, additional, Mistry, Manoj, additional, Richards, Al, additional, Smith, Debs, additional, Newman, Sonia, additional, Rathod, Shanaya, additional, Bowers, Hannah, additional, and van Marwijk, Harm, additional
Published: 2024
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3. Distinguishing emotional distress from mental disorder in primary care: a qualitative exploration of the Four-Dimensional Symptom Questionnaire.

Author: Geraghty, Adam WA, Holt, Sian, Chew-Graham, Carolyn A, Santer, Miriam, Moore, Michael, Kendrick, Tony, Terluin, Berend, Little, Paul, Stuart, Beth, Mistry, Manoj, Richards, Al, Smith, Debs, Newman, Sonia, Rathod, Shanaya, Bowers, Hannah, and van Marwijk, Harm
Subjects: PSYCHOLOGICAL distress, MENTAL illness, PRIMARY care, ANXIETY disorders, SYMPTOMS, MENTAL depression
Abstract: Background: Primary care clinicians see people experiencing the full range of mental health problems. Determining when symptoms reflect disorder is complex. The Four-Dimensional Symptom Questionnaire (4DSQ) uniquely distinguishes general distress from depressive and anxiety disorders. It may support diagnostic conversations and targeting of treatment. Aim: To explore peoples' experiences of completing the 4DSQ and their perceptions of their resulting score profile across distress, depression, anxiety, and physical symptoms. Design and setting: A qualitative study was conducted in the UK with people recruited from primary care and community settings. Method: Participants completed the 4DSQ then took part in semi-structured telephone interviews. They were interviewed about their experience of completing the 4DSQ, their perceptions of their scores across four dimensions, and the perceived utility if used with a clinician. Interviews were transcribed verbatim and data were analysed thematically. Results: Twenty-four interviews were conducted. Most participants found the 4DSQ easy to complete and reported that scores across the four dimensions aligned well with their symptom experience. Distinct scores for distress, depression, and anxiety appeared to support improved self-understanding. Some valued the opportunity to discuss their scores and provide relevant context. Many felt the use of the 4DSQ with clinicians would be helpful and likely to support treatment decisions, although some were concerned about time-limited consultations. Conclusion: Distinguishing general distress from depressive and anxiety disorders aligned well with people's experience of symptoms. Use of the 4DSQ as part of mental health consultations may support targeting of treatment and personalisation of care. [ABSTRACT FROM AUTHOR]
Published: 2024

4. Reflections on co-production: Developing a dementia research funding application with a diverse lived experience group.

Author: Griffiths, Sarah, Robertson, Martin, Kaviraj, Chandrika, Davies, Firoza, McDevitt, Marie, Richards, Al, and Russell, Marcelline
Subjects: RESEARCH funding, DIVERSITY & inclusion policies, MEETINGS, EXPERIENCE, MEDICAL research, HEALTH equity, PATIENT participation, DEMENTIA patients, CULTURAL pluralism
Abstract: Introduction and Background to Study: Published work on dementia research co-production focuses on developing health and social care interventions. Less is written about practicalities and experiences of co-producing dementia research funding applications. UK public contributors are typically from white middle class populations. Widening involvement is essential for co-produced research that meaningfully addresses health inequalities. We provide an example of a diverse lived experience group co-producing a dementia research funding application. An NIHR Dementia Career Development award funded PPIE work to develop a broad research idea. A culturally diverse lived experience group consisted of one person living with dementia, four carers and one former carer. Virtual group sessions drew on each person's unique experiences and expertise. Two co-leads collaborated closely with the researcher. Methods: We reflected on our experiences of diversity and inclusion within the group, based on a coproduced set of questions to guide reflection. Written records of reflections were captured and refined by the group. Results: We structured reflections into three overarching categories: Diversity and inclusion, Benefits to group members and Challenges. The group felt empowered, heard, and like equals in the process. Members valued diversity and mutual learning within the group. Involvement of co-leads was seen as democratic and inclusive. Some members felt Equality, Diversity and Inclusion (EDI) discussions were challenging. Discussion and Conclusions: We share valuable lessons learned in the process, including suggestions for facilitating EDI discussions, building in funding for time and travel to support relationship building, and ensuring PPIE remuneration processes are accessible and streamlined. [ABSTRACT FROM AUTHOR]
Published: 2024
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5. Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.

Author: Rees, E, Kirov, G, Walters, JT, Richards, AL, Howrigan, D, Kavanagh, DH, Pocklington, AJ, Fromer, M, Ruderfer, DM, Georgieva, L, Carrera, N, Gormley, P, Palta, P, Williams, H, Dwyer, S, Johnson, JS, Roussos, P, Barker, DD, Banks, E, Milanova, V, Rose, SA, Chambert, K, Mahajan, M, Scolnick, EM, Moran, JL, Tsuang, MT, Glatt, SJ, Chen, WJ, Hwu, H-G, Taiwanese Trios Exome Sequencing Consortium, Neale, BM, Palotie, A, Sklar, P, Purcell, SM, McCarroll, SA, Holmans, P, Owen, MJ, and O'Donovan, MC
Subjects: Taiwanese Trios Exome Sequencing Consortium, Humans, Genetic Predisposition to Disease, Case-Control Studies, Family, Schizophrenia, Gene Frequency, Genotype, Heterozygote, Homozygote, Genes, Recessive, Female, Male, Exome, Voltage-Gated Sodium Channels, Genes, Recessive, Clinical Sciences, Public Health and Health Services, Psychology
Abstract: Genetic associations involving both rare and common alleles have been reported for schizophrenia but there have been no systematic scans for rare recessive genotypes using fully phased trio data. Here, we use exome sequencing in 604 schizophrenia proband-parent trios to investigate the role of recessive (homozygous or compound heterozygous) nonsynonymous genotypes in the disorder. The burden of recessive genotypes was not significantly increased in probands at either a genome-wide level or in any individual gene after adjustment for multiple testing. At a system level, probands had an excess of nonsynonymous compound heterozygous genotypes (minor allele frequency, MAF ⩽ 1%) in voltage-gated sodium channels (VGSCs; eight in probands and none in parents, P = 1.5 × 10(-)(4)). Previous findings of multiple de novo loss-of-function mutations in this gene family, particularly SCN2A, in autism and intellectual disability provide biological and genetic plausibility for this finding. Pointing further to the involvement of VGSCs in schizophrenia, we found that these genes were enriched for nonsynonymous mutations (MAF ⩽ 0.1%) in cases genotyped using an exome array, (5585 schizophrenia cases and 8103 controls), and that in the trios data, synaptic proteins interacting with VGSCs were also enriched for both compound heterozygosity (P = 0.018) and de novo mutations (P = 0.04). However, we were unable to replicate the specific association with compound heterozygosity at VGSCs in an independent sample of Taiwanese schizophrenia trios (N = 614). We conclude that recessive genotypes do not appear to make a substantial contribution to schizophrenia at a genome-wide level. Although multiple lines of evidence, including several from this study, suggest that rare mutations in VGSCs contribute to the disorder, in the absence of replication of the original findings regarding compound heterozygosity, this conclusion requires evaluation in a larger sample of trios.
Published: 2015

6. Renewed risk for epidemic typhus related to war and massive population displacement, Ukraine

Author: Newton, PN, Fournier, P-E, Tappe, D, and Richards, AL
Subjects: Microbiology (medical), Infectious Diseases, Epidemiology, Pediculus, Animals, Humans, Lice Infestations, Rickettsia prowazekii, Ukraine, Typhus, Epidemic Louse-Borne
Abstract: Epidemic typhus, caused by Rickettsia prowazekii bacteria and transmitted through body lice (Pediculus humanus corporis), was a major public health threat in Eastern Europe as a consequence of World War II. In 2022, war and the resulting population displacement in Ukraine risks the return of this serious disease.
Published: 2023

7. Genetic Liabilities Differentiating Bipolar Disorder, Schizophrenia, and Major Depressive Disorder, and Phenotypic Heterogeneity in Bipolar Disorder

Author: Richards, AL, Cardno, A, Harold, G, Craddock, NJ, Di Florio, A, Jones, L, Gordon-Smith, K, Jones, I, Sellers, R, Walters, JTR, Holmans, PA, Owen, MJ, O'Donovan, MC, and Apollo - University of Cambridge Repository
Subjects: Adult, Male, Psychiatry and Mental health, Depressive Disorder, Major, Mania, Bipolar Disorder, RC0321, Schizophrenia, Humans, Female, Middle Aged, Genome-Wide Association Study
Abstract: ImportanceUnderstanding the origins of clinical heterogeneity in bipolar disorder (BD) will inform new approaches to stratification and studies of underlying mechanisms.ObjectiveTo identify components of genetic liability that are shared between BD, schizophrenia, and major depressive disorder (MDD) and those that differentiate each disorder from the others and to examine associations between heterogeneity for key BD symptoms and each component.Design, Setting, and ParticipantsUsing data from the Bipolar Disorder Research Network in the United Kingdom, components of liability were identified by applying genomic structural equation modeling to genome-wide association studies of schizophrenia, BD, and MDD. Polygenic risk scores (PRS) representing each component were tested for association with symptoms in an independent BD data set. Adults with DSM-IV BD or schizoaffective disorder, bipolar type, were included. Data were collected from January 2000 to December 2013, and data were analyzed from June 2020 to February 2022.Main Outcomes and MeasuresPRS representing the components of liability were tested for association with mania and depression, psychosis, and mood incongruence of psychosis in participants with BD, measured using the Bipolar Affective Disorder Dimensional Scale.ResultsOf 4429 included participants, 3012 (68.0%) were female, and the mean (SD) age was 46.2 (12.3) years. Mania and psychosis were associated with the shared liability component (mania β = 0.29; 95% CI, 0.23-0.34; P = 3.04 × 10−25; psychosis β = 0.05; 95% CI, 0.04-0.07; P = 2.33 × 10−13) and the components that differentiate each of schizophrenia (mania β = 0.08; 95% CI, 0.03-0.14; P = .002; psychosis β = 0.03; 95% CI, 0.01-0.04; P = 1.0 × 10−4) and BD (mania β = 0.14; 95% CI, 0.09-0.20; P = 1.99 × 10−7; psychosis β = 0.02; 95% CI, 0.01-0.03; P = .006) from the other disorders. The BD differentiating component was associated with mania independently of effects on psychosis (β = 0.14; 95% CI, 0.08-0.20; P = 4.32 × 10−6) but not with psychosis independently of mania. Conversely, the schizophrenia differentiating component was associated with psychosis independently of effects on mania (β = 0.01; 95% CI, 0.003-0.03; P = .02), but not with mania independently of psychosis. Mood incongruence of psychosis was associated only with the schizophrenia differentiating component (β = 0.03; 95% CI, 0.01-0.05; P = .005). Depression was associated with higher MDD differentiating component (β = 0.07; 95% CI, 0.01-0.12; P = .01) but lower BD differentiating component (β = −0.11; 95% CI, −0.17 to −0.06; P = 7.06 × 10−5).Conclusions and RelevanceIn this study of BD, clinical heterogeneity reflected the burden of liability to BD and the contribution of alleles that have differentiating effects on risk for other disorders; mania, psychosis, and depression were associated with the components of genetic liability differentiating BD, MDD, and schizophrenia, respectively. Understanding the basis of this etiological heterogeneity will be critical for identifying the different pathophysiological processes underlying BD, stratifying patients, and developing precision therapeutics.
Published: 2022

8. The Relationship Between Polygenic Risk Scores and Cognition in Schizophrenia

Author: Richards, AL, Pardinas, A.F., Frizzati, A., Tansey, KE, Lynham, A.J., Holmans, P.A. (Peter), Walters, T.R., Richards, AL, Pardinas, A.F., Frizzati, A., Tansey, KE, Lynham, A.J., Holmans, P.A. (Peter), and Walters, T.R.
Abstract: Background: Cognitive impairment is a clinically important feature of schizophrenia. Polygenic risk score (PRS) methods have demonstrated genetic overlap between schizophrenia, bipolar disorder (BD), major depressive disorder (MDD), educational attainment (EA), and IQ, but very few studies have examined associations between these PRS and cognitive phenotypes within schizophrenia cases. Methods: We combined genetic and cognitive data in 3034 schizophrenia cases from 11 samples using the general intelligence factor g as the primary measure of cognition. We used linear regression to examine the association between cognition and PRS for EA, IQ, schizophrenia, BD, and MDD. The results were then meta-analyzed across all samples. A genome-wide association studies (GWAS) of cognition was conducted in schizophrenia cases. Results: PRS for both population IQ (P = 4.39 × 10–28) and EA (P = 1.27 × 10–26) were positively correlated with cognition in those with schizophrenia. In contrast, there was no association between cognition in schizophrenia cases and PRS for schizophrenia (P = .39), BD (P = .51), or MDD (P = .49). No individual variant approached genome-wide significance in the GWAS. Conclusions: Cognition in schizophrenia cases is more strongly associated with PRS that index cognitive traits in the general population than PRS for neuropsychiatric disorders. This suggests the mechanisms of cognitive variation within schizophrenia are at least partly independent from those that pre
Published: 2020
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9. Drug-resistant scrub typhus

Author: Wangrangsimakul, T, Phuklia, W, Newton, PN, Richards, AL, and Day, NPJ
Subjects: Microbiology (medical), medicine.medical_specialty, business.industry, MEDLINE, Scrub typhus, Drug resistance, medicine.disease, Dermatology, Infectious Diseases, Pharmaceutical Preparations, Scrub Typhus, Doxycycline, medicine, Humans, business
Published: 2019

10. Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis

Author: Rees, E, Carrera, N, Morgan, J, Hambridge, K, Escott-Price, V, Pocklington, AJ, Richards, AL, Pardinas, AF, McDonald, C, Donohoe, G, Morris, DW, Kenny, E, Kelleher, E, Gill, M, Corvin, A, Kirov, G, Walters, JTR, Holmans, P, Owen, MJ, O'Donovan, MC, Alizadeh, BZ, van Amelsvoort, T, Bartels-Velthuis, AA, Beveren, JM, Bruggeman, R, Cahn, W, de Haan, L, Delespaul, P, Meijer, CJ, Myin-Germeys, I, Kahn, RS, Schirmbeck, F, Simons, CJP, van Haren, NE, van Os, J, van Winkel, R, Luykx, JJ, APH - Mental Health, ANS - Complex Trait Genetics, Adult Psychiatry, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), RS: MHeNs - R2 - Mental Health, MUMC+: MA Psychiatrie (3), MUMC+: Hersen en Zenuw Centrum (3), Neurosciences, and Psychiatry
Subjects: Psychiatry, RISK, Science & Technology, DISORDERS, Neurosciences, OF-FUNCTION VARIANTS, SUSCEPTIBILITY, FRAMEWORK, ARC, NMDAR, INDIVIDUALS, DE-NOVO MUTATIONS, mental disorders, SETD1A, Genetics, Schizophrenia, Sequencing, Neurosciences & Neurology, GENOME-WIDE ASSOCIATION, Voltage-gated sodium channels, BURDEN, Life Sciences & Biomedicine, Biological Psychiatry
Abstract: BACKGROUND: Sequencing studies have pointed to the involvement in schizophrenia of rare coding variants in neuronally expressed genes, including activity-regulated cytoskeleton-associated protein (ARC) and N-methyl-D-aspartate receptor (NMDAR) complexes; however, larger samples are required to reveal novel genes and specific biological mechanisms. METHODS: We sequenced 187 genes, selected for prior evidence of association with schizophrenia, in a new dataset of 5207 cases and 4991 controls. Included among these genes were members of ARC and NMDAR postsynaptic protein complexes, as well as voltage-gated sodium and calcium channels. We performed a rare variant meta-analysis with published sequencing data for a total of 11,319 cases, 15,854 controls, and 1136 trios. RESULTS: While no individual gene was significantly associated with schizophrenia after genome-wide correction for multiple testing, we strengthen the evidence that rare exonic variants in the ARC (p = 4.0 × 10-4) and NMDAR (p = 1.7 × 10-5) synaptic complexes are risk factors for schizophrenia. In addition, we found that loss-of-function variants and missense variants at paralog-conserved sites were enriched in voltage-gated sodium channels, particularly the alpha subunits (p = 8.6 × 10-4). CONCLUSIONS: In one of the largest sequencing studies of schizophrenia to date, we provide novel evidence that multiple voltage-gated sodium channels are involved in schizophrenia pathogenesis and confirm the involvement of ARC and NMDAR postsynaptic complexes. ispartof: BIOLOGICAL PSYCHIATRY vol:85 issue:7 pages:554-562 ispartof: location:United States status: published
Published: 2019

11. Genome-wide association study identifies 30 loci associated with bipolar disorder

Author: Stahl, EA, Breen, G, Forstner, AJ, McQuillin, A, Ripke, S, Trubetskoy, V, Mattheisen, M, Wang, Y, Coleman, JRI, Gaspar, HA, de Leeuw, CA, Steinberg, S, Pavlides, JMW, Trzaskowski, M, Byrne, EM, Pers, TH, Holmans, PA, Richards, AL, Abbott, L, Agerbo, E, Akil, H, Albani, D, Alliey-Rodriguez, N, Als, TD, Anjorin, A, Antilla, V, Awasthi, S, Badner, JA, Bækvad-Hansen, M, Barchas, JD, Bass, N, Bauer, M, Belliveau, R, Bergen, SE, Pedersen, CB, Bøen, E, Boks, MP, Boocock, J, Budde, M, Bunney, W, Burmeister, M, Bybjerg-Grauholm, J, Byerley, W, Casas, M, Cerrato, F, Cervantes, P, Chambert, K, Charney, AW, Chen, D, Churchhouse, C, Clarke, TK, Coryell, W, Craig, DW, Cruceanu, C, Curtis, D, Czerski, PM, Dale, AM, de Jong, S, Degenhardt, F, Del-Favero, J, DePaulo, JR, Djurovic, S, Dobbyn, AL, Dumont, A, Elvsåshagen, T, Escott-Price, V, Fan, CC, Fischer, SB, Flickinger, M, Foroud, TM, Forty, L, Frank, J, Fraser, C, Freimer, NB, Frisén, L, Gade, K, Gage, D, Garnham, J, Giambartolomei, C, Pedersen, MG, Goldstein, J, Gordon, SD, Gordon-Smith, K, Green, EK, Green, MJ, Greenwood, TA, Grove, J, Guan, W, Guzman-Parra, J, Hamshere, ML, Hautzinger, M, Heilbronner, U, Herms, S, Hipolito, M, Hoffmann, P, Holland, D, Huckins, L, Jamain, S, Johnson, JS, Juréus, A, Stahl, EA, Breen, G, Forstner, AJ, McQuillin, A, Ripke, S, Trubetskoy, V, Mattheisen, M, Wang, Y, Coleman, JRI, Gaspar, HA, de Leeuw, CA, Steinberg, S, Pavlides, JMW, Trzaskowski, M, Byrne, EM, Pers, TH, Holmans, PA, Richards, AL, Abbott, L, Agerbo, E, Akil, H, Albani, D, Alliey-Rodriguez, N, Als, TD, Anjorin, A, Antilla, V, Awasthi, S, Badner, JA, Bækvad-Hansen, M, Barchas, JD, Bass, N, Bauer, M, Belliveau, R, Bergen, SE, Pedersen, CB, Bøen, E, Boks, MP, Boocock, J, Budde, M, Bunney, W, Burmeister, M, Bybjerg-Grauholm, J, Byerley, W, Casas, M, Cerrato, F, Cervantes, P, Chambert, K, Charney, AW, Chen, D, Churchhouse, C, Clarke, TK, Coryell, W, Craig, DW, Cruceanu, C, Curtis, D, Czerski, PM, Dale, AM, de Jong, S, Degenhardt, F, Del-Favero, J, DePaulo, JR, Djurovic, S, Dobbyn, AL, Dumont, A, Elvsåshagen, T, Escott-Price, V, Fan, CC, Fischer, SB, Flickinger, M, Foroud, TM, Forty, L, Frank, J, Fraser, C, Freimer, NB, Frisén, L, Gade, K, Gage, D, Garnham, J, Giambartolomei, C, Pedersen, MG, Goldstein, J, Gordon, SD, Gordon-Smith, K, Green, EK, Green, MJ, Greenwood, TA, Grove, J, Guan, W, Guzman-Parra, J, Hamshere, ML, Hautzinger, M, Heilbronner, U, Herms, S, Hipolito, M, Hoffmann, P, Holland, D, Huckins, L, Jamain, S, Johnson, JS, and Juréus, A
Abstract: Bipolar disorder is a highly heritable psychiatric disorder. We performed a genome-wide association study (GWAS) including 20,352 cases and 31,358 controls of European descent, with follow-up analysis of 822 variants with P < 1 × 10 −4 in an additional 9,412 cases and 137,760 controls. Eight of the 19 variants that were genome-wide significant (P < 5 × 10 −8 ) in the discovery GWAS were not genome-wide significant in the combined analysis, consistent with small effect sizes and limited power but also with genetic heterogeneity. In the combined analysis, 30 loci were genome-wide significant, including 20 newly identified loci. The significant loci contain genes encoding ion channels, neurotransmitter transporters and synaptic components. Pathway analysis revealed nine significantly enriched gene sets, including regulation of insulin secretion and endocannabinoid signaling. Bipolar I disorder is strongly genetically correlated with schizophrenia, driven by psychosis, whereas bipolar II disorder is more strongly correlated with major depressive disorder. These findings address key clinical questions and provide potential biological mechanisms for bipolar disorder.
Published: 2019

12. Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis

Author: Rees, E., Carrera, N, Morgan, J. (John), Hambridge, K., Escott-Price, V, Pocklington, AJ, Richards, AL, Pardinas, A.F., McDonald, C. (Colm), Donohoe, G, Morris, D.W. (Derek W), Kenny, A., Kelleher, E., Gill, M. (Michael), Corvin, A. (Aiden), Kirov, G, Walters, JTR, Holmans, P.A. (Peter), Owen, M.J., O'Donovan, M. (Michael), Alizadeh, BZ, van Amelsvoort, T, Bartels-Velthuis, A.A., van Beveren, NJ, Bruggeman, R. (Richard), Cahn, W. (Wiepke), Willigenburg, T. (Theo) van, Delespaul, P., Meijer, C.J., Myin-Germeys, I. (Inez), Kahn, R.S. (René), Schirmbeck, F., Simons, CJP, van Haren, N.E., Os, J. (Jim) van, Winkel, R. (Ruud) van, Luykx, J.J., Rees, E., Carrera, N, Morgan, J. (John), Hambridge, K., Escott-Price, V, Pocklington, AJ, Richards, AL, Pardinas, A.F., McDonald, C. (Colm), Donohoe, G, Morris, D.W. (Derek W), Kenny, A., Kelleher, E., Gill, M. (Michael), Corvin, A. (Aiden), Kirov, G, Walters, JTR, Holmans, P.A. (Peter), Owen, M.J., O'Donovan, M. (Michael), Alizadeh, BZ, van Amelsvoort, T, Bartels-Velthuis, A.A., van Beveren, NJ, Bruggeman, R. (Richard), Cahn, W. (Wiepke), Willigenburg, T. (Theo) van, Delespaul, P., Meijer, C.J., Myin-Germeys, I. (Inez), Kahn, R.S. (René), Schirmbeck, F., Simons, CJP, van Haren, N.E., Os, J. (Jim) van, Winkel, R. (Ruud) van, and Luykx, J.J.
Abstract: Background Sequencing studies have pointed to the involvement in schizophrenia of rare coding variants in neuronally expressed genes, including activity-regulated cytoskeleton-associated protein (ARC) and N-methyl-D-aspartate receptor (NMDAR) complexes; however, larger samples are required to reveal novel genes and specific biological mechanisms. Methods We sequenced 187 genes, selected for prior evidence of association with schizophrenia, in a new dataset of 5207 cases and 4991 controls. Included among these genes were members of ARC and NMDAR postsynaptic protein complexes, as well as voltage
Published: 2019
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13. Biosafety and biosecurity requirements for Orientia spp. diagnosis and research: recommendations for risk-based biocontainment, work practices and the case for reclassification to risk group 2

Author: Blacksell, SD, Robinson, MT, Newton, PN, Ruanchaimun, S, Salje, J, Wangrangsimakul, T, Wegner, MD, Abdad, MY, Bennett, AM, Richards, AL, Stenos, J, Day, NPJ, Blacksell, SD, Robinson, MT, Newton, PN, Ruanchaimun, S, Salje, J, Wangrangsimakul, T, Wegner, MD, Abdad, MY, Bennett, AM, Richards, AL, Stenos, J, and Day, NPJ
Abstract: Scrub typhus is an important arthropod-borne disease causing significant acute febrile illness by infection with Orientia spp.Using a risk-based approach, this review examines current practice, the evidence base and regulatory requirements regarding matters of biosafety and biosecurity, and presents the case for reclassification from Risk Group 3 to Risk Group 2 along with recommendations for safe working practices of risk-based activities during the manipulation of Orientia spp. in the laboratory.We recommend to reclassify Orientia spp. to Risk Group 2 based on the classification for RG2 pathogens as being moderate individual risk, low community risk. We recommend that low risk activities, can be performed within a biological safety cabinet located in a Biosafety Level (BSL) 2 core laboratory using standard personal protective equipment. But when the risk assessment indicates, such as high concentration and volume, or aerosol generation, then a higher biocontainment level is warranted. For, the majority of animal activities involving Orientia spp., Animal BSL 2 (ABSL2) is recommended however where high risk activities are performed including necropsies, Animal BSL (ABSL3) is recommended.
Published: 2019

14. Population-based identity-by-descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

Author: Harold, D, Connolly, S, Riley, BP, Kendler, KS, McCarthy, SE, McCombie, WR, Richards, A, Owen, MJ, O'Donovan, MC, Walters, J, Donnelly, P, Bates, L, Barroso, I, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Hopkins, L, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Ripke, S, Neale, BM, Walters, JTR, Farh, K-H, Holmans, PA, Lee, P, Bulik-Sullivan, B, Collier, DA, Huang, H, Pers, TH, Agartz, I, Agerbo, E, Albus, M, Alexander, M-L, Amin, F, Bacanu, SA, Begemann, M, Belliveau, RA, Bene, J, Bergen, SE, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Chan, RCK, Chan, RYL, Chen, EYH, Cheng, W, Cheung, EFC, Chong, SA, Cloninger, CR, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedl, M, Friedman, JI, Fromer, M, Genovese, G, Georgieva, L, Giegling, I, Giusti-Rodriguez, P, Godard, S, Goldstein, JI, Golimbet, V, Gopal, S, Gratten, J, de Haan, L, Hammer, C, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffmann, P, Hofman, A, Hollegaard, MV, Hougaard, DM, Ikeda, M, Joa, I, Julia, A, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, MC, Kennedy, JL, Khrunin, A, Kim, Y, Klovins, J, Knowles, JA, Konte, B, Kucinskas, V, Kucinskiene, ZA, Kuzelova-Ptackova, H, Kahler, AK, Laurent, C, Lee, J, Lee, SH, Legge, SE, Lerer, B, Li, M, Li, T, Liang, K-Y, Lieberman, J, Limborska, S, Loughland, CM, Lubinski, J, Lonnqvist, J, Macek, M, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melegh, B, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Mors, O, Murphy, KC, Murray, RM, Myin-Germeys, I, Muller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, FA, Oh, S-Y, Olincy, A, Olsen, L, Van Os, J, Pantelis, C, Papadimitriou, GN, Papiol, S, Parkhomenko, E, Pato, MT, Paunio, T, Pejovic-Milovancevic, M, Perkins, DO, Pietilainen, O, Pimm, J, Pocklington, AJ, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Schall, U, Schubert, CR, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, JM, Sim, K, Slominsky, P, Smoller, JW, So, H-C, Stahl, EA, Stefansson, H, Steinberg, S, Stogmann, E, Straub, RE, Strengman, E, Strohmaier, J, Stroup, TS, Subramaniam, M, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Soderman, E, Thirumalai, S, Toncheva, D, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wong, EHM, Wormley, BK, Xi, HS, Zai, CC, Zheng, X, Zimprich, F, Wray, NR, Stefansson, K, Visscher, PM, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Buxbaum, JD, Borglum, AD, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jonsson, EG, Kirov, G, Knight, J, Lencz, T, Levinson, DF, Li, QS, Liu, J, Malhotra, AK, McCarroll, SA, McQuillin, A, Moran, JL, Mortensen, PB, Mowry, BJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, D, Rujescu, D, Sham, PC, Sklar, P, St Clair, D, Weinberger, DR, Wendland, JR, Werge, T, Daly, MJ, Sullivan, PF, Harold, D, Connolly, S, Riley, BP, Kendler, KS, McCarthy, SE, McCombie, WR, Richards, A, Owen, MJ, O'Donovan, MC, Walters, J, Donnelly, P, Bates, L, Barroso, I, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Hopkins, L, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Ripke, S, Neale, BM, Walters, JTR, Farh, K-H, Holmans, PA, Lee, P, Bulik-Sullivan, B, Collier, DA, Huang, H, Pers, TH, Agartz, I, Agerbo, E, Albus, M, Alexander, M-L, Amin, F, Bacanu, SA, Begemann, M, Belliveau, RA, Bene, J, Bergen, SE, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Chan, RCK, Chan, RYL, Chen, EYH, Cheng, W, Cheung, EFC, Chong, SA, Cloninger, CR, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedl, M, Friedman, JI, Fromer, M, Genovese, G, Georgieva, L, Giegling, I, Giusti-Rodriguez, P, Godard, S, Goldstein, JI, Golimbet, V, Gopal, S, Gratten, J, de Haan, L, Hammer, C, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffmann, P, Hofman, A, Hollegaard, MV, Hougaard, DM, Ikeda, M, Joa, I, Julia, A, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, MC, Kennedy, JL, Khrunin, A, Kim, Y, Klovins, J, Knowles, JA, Konte, B, Kucinskas, V, Kucinskiene, ZA, Kuzelova-Ptackova, H, Kahler, AK, Laurent, C, Lee, J, Lee, SH, Legge, SE, Lerer, B, Li, M, Li, T, Liang, K-Y, Lieberman, J, Limborska, S, Loughland, CM, Lubinski, J, Lonnqvist, J, Macek, M, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melegh, B, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Mors, O, Murphy, KC, Murray, RM, Myin-Germeys, I, Muller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, FA, Oh, S-Y, Olincy, A, Olsen, L, Van Os, J, Pantelis, C, Papadimitriou, GN, Papiol, S, Parkhomenko, E, Pato, MT, Paunio, T, Pejovic-Milovancevic, M, Perkins, DO, Pietilainen, O, Pimm, J, Pocklington, AJ, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Schall, U, Schubert, CR, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, JM, Sim, K, Slominsky, P, Smoller, JW, So, H-C, Stahl, EA, Stefansson, H, Steinberg, S, Stogmann, E, Straub, RE, Strengman, E, Strohmaier, J, Stroup, TS, Subramaniam, M, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Soderman, E, Thirumalai, S, Toncheva, D, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wong, EHM, Wormley, BK, Xi, HS, Zai, CC, Zheng, X, Zimprich, F, Wray, NR, Stefansson, K, Visscher, PM, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Buxbaum, JD, Borglum, AD, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jonsson, EG, Kirov, G, Knight, J, Lencz, T, Levinson, DF, Li, QS, Liu, J, Malhotra, AK, McCarroll, SA, McQuillin, A, Moran, JL, Mortensen, PB, Mowry, BJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, D, Rujescu, D, Sham, PC, Sklar, P, St Clair, D, Weinberger, DR, Wendland, JR, Werge, T, Daly, MJ, and Sullivan, PF
Abstract: Genome-wide association studies (GWASs) are highly effective at identifying common risk variants for schizophrenia. Rare risk variants are also important contributors to schizophrenia etiology but, with the exception of large copy number variants, are difficult to detect with GWAS. Exome and genome sequencing, which have accelerated the study of rare variants, are expensive so alternative methods are needed to aid detection of rare variants. Here we re-analyze an Irish schizophrenia GWAS dataset (n = 3,473) by performing identity-by-descent (IBD) mapping followed by exome sequencing of individuals identified as sharing risk haplotypes to search for rare risk variants in coding regions. We identified 45 rare haplotypes (>1 cM) that were significantly more common in cases than controls. By exome sequencing 105 haplotype carriers, we investigated these haplotypes for functional coding variants that could be tested for association in independent GWAS samples. We identified one rare missense variant in PCNT but did not find statistical support for an association with schizophrenia in a replication analysis. However, IBD mapping can prioritize both individual samples and genomic regions for follow-up analysis but genome rather than exome sequencing may be more effective at detecting risk variants on rare haplotypes.
Published: 2019

15. Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness

Author: Bigdeli, T. B, Ripke, S, Bacanu, Sa, Lee, S. H, Wray, Nr, Gejman, P. V, Rietschel, M, Cichon, S, St Clair, D, Corvin, A, Kirov, G, Mcquillin, A, Gurling, H, Rujescu, D, Andreassen, O. A, Werge, T, Blackwood, D. H. R, Pato, C. N, Pato, M. T, Malhotra, A. K, O'Donovan, M. C, Kendler, K. S, Fanous, A. H, Neale, Bm, Walters, Jt, Farh, Kh, Holmans, Pa, Lee, P, Bulik Sullivan, B, Collier, Da, Huang, H, Pers, Th, Agartz, I, Agerbo, E, Albus, M, Alexander, M, Amin, F, Begemann, M, Belliveau, Ra, Bene, J, Bergen, Se, Bevilacqua, E, Bigdeli, Tb, Black, Dw, Børglum, Ad, Bruggeman, R, Buccola, Ng, Buckner, Rl, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, Rm, Carr, Vj, Carrera, N, Catts, Sv, Chambert, Kd, Chan, Rc, Chen, Ry, Chen, Ey, Cheng, W, Cheung, Ef, Chong, Sa, Cloninger, C, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, Jj, Curtis, D, Davidson, M, Davis, Kl, Degenhardt, F, Del, Favero, J, Delisi, Le, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott Price, V, Essioux, L, Fanous, Ah, Farrell, Ms, Frank, J, Franke, L, Freedman, R, Freimer, Nb, Friedl, M, Friedman, Ji, Fromer, M, Genovese, G, Georgieva, L, Gershon, Es, Giegling, I, Giusti Rodríguez, P, Godard, S, Goldstein, Ji, Golimbet, V, Gopal, S, Gratten, J, Grove, J, Haan, De, L, Hammer, C, Hamshere, Ml, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, Am, Henskens, Fa, Herms, S, Hirschhorn, Jn, Hoffmann, P, Hofman, A, Hollegaard, Mv, Hougaard, Dm, Ikeda, M, Joa, I, Julìa, A, Kahn, Rs, Kalaydjieva, L, Karachanak Yankova, S, Karjalainen, J, Kavanagh, D, Keller, Mc, Kelly, Bj, Kennedy, Jl, Khrunin, A, Kim, Y, Klovins, J, Knowles, Ja, Konte, B, Kucinskas, V, Kucinskiene, Za, Kuzelova Ptackova, H, Kähler, Ak, Laurent, C, Keong, Jl, Lee, S, Legge, Se, Lerer, B, Li, M, Li, T, Liang, Ky, Lieberman, J, Limborska, S, Loughland, Cm, Lubinski, J, Lönnqvist, J, Macek, M, Magnusson, Pk, Maher, Bs, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, Mccarley, Rw, Mcdonald, C, Mcintosh, Am, Meier, S, Meijer, Cj, Melegh, B, Melle, I, Mesholam Gately, Ri, Metspalu, A, Michie, Pt, Milani, L, Milanova, V, Mokrab, Y, Morris, Dw, Mors, O, Mortensen, Pb, Murphy, Kc, Murray, Rm, Myin Germeys, I, Müller Myhsok, B, Nelis, M, Nenadic, I, Nertney, Da, Nestadt, G, Nicodemus, Kk, Nikitina Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, F, Sy, Oh, Olincy, A, Olsen, L, Jv, Os, Pantelis, C, Papadimitriou, Gn, Papiol, S, Parkhomenko, E, Pato, Mt, Paunio, T, Pejovic Milovancevic, M, Perkins, Do, Pietiläinen, O, Pimm, J, Pocklington, Aj, Powell, J, Price, A, Pulver, Ae, Purcell, Sm, Quested, D, Rasmussen, Hb, Reichenberg, A, Reimers, Ma, Richards, Al, Roffman, Jl, Roussos, P, Ruderfer, Dm, Salomaa, V, Sanders, Ar, Schall, U, Schubert, Cr, Schulze, Tg, Schwab, Sg, Scolnick, Em, Scott, Rj, Seidman, Lj, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, Jm, Sim, K, Slominsky, P, Smoller, Jw, Hc, So, Spencer, Cc, Stahl, Ea, Stefansson, H, Steinberg, S, Stogmann, E, Straub, Re, Strengman, E, Strohmaier, J, Stroup, T, Subramaniam, M, Suvisaari, J, Svrakic, Dm, Szatkiewicz, Jp, Söderman, E, Thirumalai, S, Toncheva, D, Tooney, Pa, Tosato, Sarah, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, Bt, Weiser, M, Wildenauer, Db, Williams, Nm, Williams, S, Witt, Sh, Wolen, Ar, Wong, Eh, Wormley, Bk, Jq, Wu, Hs, Xi, Zai, Cc, Zheng, X, Zimprich, F, Stefansson, K, Visscher, Pm, Adolfsson, R, Andreassen, Oa, Blackwood, Dh, Bramon, E, Buxbaum, Jd, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, Pv, Gill, M, Hultman, Cm, Iwata, N, Jablensky, Av, Jönsson, Eg, Kendler, Ks, Knight, J, Lencz, T, Levinson, Df, Qs, Li, Liu, J, Malhotra, Ak, Mccarroll, Sa, Moran, Jl, Mowry, Bj, Nöthen, Mm, Ophoff, Ra, Owen, Mj, Palotie, A, Pato, Cn, Petryshen, Tl, Posthuma, D, Riley, Bp, Sham, Pc, Sklar, P, Clair, Ds, Weinberger, Dr, Wendland, Jr, Daly, Mj, Sullivan, Pf, O'Donovan, Mc, Complex Trait Genetics, Amsterdam Neuroscience - Complex Trait Genetics, Bigdeli, Tim B, Ripke, Stephan, Bacanu, Silviu-Alin, Lee, Sang Hong, Fanous, Ayman H, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Psychosis Endophenotype International Consortium, Wellcome Trust Case-Control Consortium 2, Other departments, Adult Psychiatry, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, MUMC+: MA Psychiatrie (3), MUMC+: Hersen en Zenuw Centrum (3), and Del-Favero, Jurgen
Subjects: 0301 basic medicine, Multifactorial Inheritance, Bipolar Disorder, Inheritance Patterns, Genome-wide association study, Single-nucleotide polymorphism, polygenic, heritability, Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Humans, SNP, GWAS, Family, Genetic Predisposition to Disease, Family history, Allele, Genetics (clinical), Genetic association, Genetics & Heredity, Psychiatry, Genetics, Depressive Disorder, Major, family history, Models, Genetic, Case-control study, medicine.disease, 3. Good health, schizophrenia, Psychiatry and Mental health, 030104 developmental biology, Schizophrenia, Case-Control Studies, Human medicine, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: Genome-wide association studies (GWAS) of schizophrenia have yielded more than 100 common susceptibility variants, and strongly support a substantial polygenic contribution of a large number of small allelic effects. It has been hypothesized that familial schizophrenia is largely a consequence of inherited rather than environmental factors. We investigated the extent to which familiality of schizophrenia is associated with enrichment for common risk variants detectable in a large GWAS. We analyzed single nucleotide polymorphism (SNP) data for cases reporting a family history of psychotic illness (N=978), cases reporting no such family history (N=4,503), and unscreened controls (N=8,285) from the Psychiatric Genomics Consortium (PGC1) study of schizophrenia. We used a multinomial logistic regression approach with model-fitting to detect allelic effects specific to either family history subgroup. We also considered a polygenic model, in which we tested whether family history positive subjects carried more schizophrenia risk alleles than family history negative subjects, on average. Several individual SNPs attained suggestive but not genome-wide significant association with either family history subgroup. Comparison of genome-wide polygenic risk scores based on GWAS summary statistics indicated a significant enrichment for SNP effects among family history positive compared to family history negative cases (Nagelkerke's R-2=0.0021; P=0.00331; P-value threshold
Published: 2016

16. Age at first birth in women is genetically associated with increased risk of schizophrenia

Author: Ni, G, Gratten, J, Wray, NR, Lee, SH, Ripke, S, Neale, BM, Corvin, A, Walters, JTR, Farh, KH, Holmans, PA, Lee, P, Bulik-Sullivan, B, Collier, DA, Huang, H, Pers, TH, Agartz, I, Agerbo, E, Albus, M, Alexander, M, Amin, F, Bacanu, SA, Begemann, M, Belliveau, RA, Bene, J, Bergen, SE, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Chan, RCK, Chen, RYL, Chen, EYH, Cheng, W, Cheung, EFC, Chong, SA, Cloninger, CR, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedl, M, Friedman, JI, Fromer, M, Genovese, G, Georgieva, L, Giegling, I, Giusti-Rodríguez, P, Godard, S, Goldstein, JI, Golimbet, V, Gopal, S, Haan, L de, Hammer, C, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffmann, P, Hofman, A, Hollegaard, MV, Hougaard, DM, Ikeda, M, Joa, I, Juliá, A, Kahn, RS, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, MC, Kennedy, JL, Khrunin, A, Kim, Y, Klovins, J, Knowles, JA, Konte, B, Kucinskas, V, Kucinskiene, ZA, Kuzelova-Ptackova, H, Kähler, AK, Laurent, C, Keong, JLC, Legge, SE, Lerer, B, Li, M, Li, T, Liang, KY, Lieberman, J, Limborska, S, Loughland, CM, Lubinski, J, Lönnqvist, J, Macek, M, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melegh, B, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Mors, O, Murphy, KC, Murray, RM, Myin-Germeys, I, Müller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, FA, Oh, SY, Olincy, A, Olsen, L, van Os, JV, Pantelis, C, Papadimitriou, GN, Papiol, S, Parkhomenko, E, Pato, MT, Paunio, T, Pejovic-Milovancevic, M, Perkins, DO, Pietiläinen, O, Pimm, J, Pocklington, AJ, Powell, J, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Schall, U, Schubert, CR, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, JM, Sim, K, Slominsky, P, Smoller, JW, So, HC, Spencer, CCA, Stahl, EA, Stefansson, H, Steinberg, S, Stogmann, E, Straub, RE, Strengman, E, Strohmaier, J, Stroup, TS, Subramaniam, M, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Söderman, E, Thirumalai, S, Toncheva, D, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wong, EHM, Wormley, BK, Xi, HS, Zai, CC, Zheng, Xuebin, Zimprich, F, Stefansson, K, Visscher, PM, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Bramon, E, Buxbaum, JD, Børglum, AD, Cichon, S, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jönsson, EG, Kendler, KS, Kirov, G, Knight, J, Lencz, T, Levinson, DF, Li, QS, Liu, J, Malhotra, AK, McCarroll, SA, McQuillin, A, Moran, JL, Mortensen, PB, Mowry, BJ, Nöthen, MM, Ophoff, RA, Owen, MJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, Daniëlle, Rietschel, M, Riley, BP, Rujescu, D, Sham, PC, Clair, DS, Weinberger, DR, Wendland, JR, Werge, T, Daly, MJ, Sullivan, PF, O'Donovan, MC, Ni, G, Gratten, J, Wray, NR, Lee, SH, Ripke, S, Neale, BM, Corvin, A, Walters, JTR, Farh, KH, Holmans, PA, Lee, P, Bulik-Sullivan, B, Collier, DA, Huang, H, Pers, TH, Agartz, I, Agerbo, E, Albus, M, Alexander, M, Amin, F, Bacanu, SA, Begemann, M, Belliveau, RA, Bene, J, Bergen, SE, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Chan, RCK, Chen, RYL, Chen, EYH, Cheng, W, Cheung, EFC, Chong, SA, Cloninger, CR, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedl, M, Friedman, JI, Fromer, M, Genovese, G, Georgieva, L, Giegling, I, Giusti-Rodríguez, P, Godard, S, Goldstein, JI, Golimbet, V, Gopal, S, Haan, L de, Hammer, C, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffmann, P, Hofman, A, Hollegaard, MV, Hougaard, DM, Ikeda, M, Joa, I, Juliá, A, Kahn, RS, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, MC, Kennedy, JL, Khrunin, A, Kim, Y, Klovins, J, Knowles, JA, Konte, B, Kucinskas, V, Kucinskiene, ZA, Kuzelova-Ptackova, H, Kähler, AK, Laurent, C, Keong, JLC, Legge, SE, Lerer, B, Li, M, Li, T, Liang, KY, Lieberman, J, Limborska, S, Loughland, CM, Lubinski, J, Lönnqvist, J, Macek, M, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melegh, B, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Mors, O, Murphy, KC, Murray, RM, Myin-Germeys, I, Müller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, FA, Oh, SY, Olincy, A, Olsen, L, van Os, JV, Pantelis, C, Papadimitriou, GN, Papiol, S, Parkhomenko, E, Pato, MT, Paunio, T, Pejovic-Milovancevic, M, Perkins, DO, Pietiläinen, O, Pimm, J, Pocklington, AJ, Powell, J, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Schall, U, Schubert, CR, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, JM, Sim, K, Slominsky, P, Smoller, JW, So, HC, Spencer, CCA, Stahl, EA, Stefansson, H, Steinberg, S, Stogmann, E, Straub, RE, Strengman, E, Strohmaier, J, Stroup, TS, Subramaniam, M, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Söderman, E, Thirumalai, S, Toncheva, D, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wong, EHM, Wormley, BK, Xi, HS, Zai, CC, Zheng, Xuebin, Zimprich, F, Stefansson, K, Visscher, PM, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Bramon, E, Buxbaum, JD, Børglum, AD, Cichon, S, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jönsson, EG, Kendler, KS, Kirov, G, Knight, J, Lencz, T, Levinson, DF, Li, QS, Liu, J, Malhotra, AK, McCarroll, SA, McQuillin, A, Moran, JL, Mortensen, PB, Mowry, BJ, Nöthen, MM, Ophoff, RA, Owen, MJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, Daniëlle, Rietschel, M, Riley, BP, Rujescu, D, Sham, PC, Clair, DS, Weinberger, DR, Wendland, JR, Werge, T, Daly, MJ, Sullivan, PF, and O'Donovan, MC
Published: 2018

17. Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

Author: Gusev, A, Lee, Sh, SWE SCZ, Consortium, O'Dushlaine, Cgusev, Trynka, G, Finucane, H, Vilhjálmsson, Bj, Xu, H, Zang, C, Ripke, S, Bulik Sullivan, B, Stahl, E, Schizophrenia, Working, Neale, Bm, Corvin, A, Walters, Jt, Farh, Kh, Holmans, Pa, Lee, P, Collier, Da, Huang, H, Pers, Th, Agartz, I, Agerbo, E, Albus, M, Alexander, M, Amin, F, Bacanu, Sa, Begemann, M, Belliveau, Ra, Bene, J, Bergen, Se, Bevilacqua, E, Bigdeli, Tb, Black, Dw, Børglum, Ad, Bruggeman, R, Buccola, Ng, Buckner, Rl, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, Rm, Carr, Vj, Carrera, N, Catts, Sv, Chambert, Kd, Chan, Rc, Chen, Ry, Chen, Ey, Cheng, W, Cheung, Ef, Chong, Sa, Cloninger, Cr, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, Jj, Curtis, D, Davidson, M, Davis, Kl, Degenhardt, F, Del, Favero, Delisi, Le, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott Price, V, Essioux, L, Fanous, Ah, Farrell, Ms, Frank, J, Franke, L, Freedman, R, Freimer, Nb, Friedl, M, Friedman, Ji, Fromer, M, Genovese, G, Georgieva, L, Gershon, Es, Giegling, I, Giusti Rodrguez, P, Godard, S, Goldstein, Ji, Golimbet, V, Gopal, S, Gratten, J, Grove, J, Haan, De, Hammer, C, Hamshere, Ml, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, Am, Henskens, Fa, Herms, S, Hirschhorn, Jn, Hoffmann, P, Hofman, A, Hollegaard, Mv, Hougaard, Dm, Ikeda, M, Joa, I, Julià, A, Kahn, Rs, Kalaydjieva, L, Karachanak Yankova, S, Karjalainen, J, Kavanagh, D, Keller, Mc, Kelly, Bj, Kennedy, Jl, Khrunin, A, Kim, Y, Klovins, J, Knowles, Ja, Konte, B, Kucinskas, V, Kucinskiene, Za, Kuzelova Ptackova, H, Kähler, Ak, Laurent, C, Keong, Jl, Legge, Se, Lerer, B, Li, M, Li, T, Liang, Ky, Lieberman, J, Limborska, S, Loughland, Cm, Lubinski, J, Lnnqvist, J, Macek, M, Magnusson, Pk, Maher, Bs, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, Mccarley, Rw, Mcdonald, C, Mcintosh, Am, Meier, S, Meijer, Cj, Melegh, B, Melle, I, Mesholam Gately, Ri, Metspalu, A, Michie, Pt, Milani, L, Milanova, V, Mokrab, Y, Morris, Dw, Mors, O, Mortensen, Pb, Murphy, Kc, Murray, Rm, Myin Germeys, I, Mller Myhsok, B, Nelis, M, Nenadic, I, Nertney, Da, Nestadt, G, Nicodemus, Kk, Nikitina Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, Fa, Sy, Oh, Olincy, A, Olsen, L, Van, Os, Pantelis, C, Papadimitriou, Gn, Papiol, S, Parkhomenko, E, Pato, Mt, Paunio, T, Pejovic Milovancevic, M, Perkins, Do, Pietilinen, O, Pimm, J, Pocklington, Aj, Powell, J, Price, A, Pulver, Ae, Purcell, Sm, Quested, D, Rasmussen, Hb, Reichenberg, A, Reimers, Ma, Richards, Al, Roffman, Jl, Roussos, P, Ruderfer, Dm, Salomaa, V, Sanders, Ar, Schall, U, Schubert, Cr, Schulze, Tg, Schwab, Sg, Scolnick, Em, Scott, Rj, Seidman, Lj, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, Jm, Sim, K, Slominsky, P, Smoller, Jw, Hc, So, Spencer, Cc, Stahl, Ea, Stefansson, H, Steinberg, S, Stogmann, E, Straub, Re, Strengman, E, Strohmaier, J, Stroup, Ts, Subramaniam, M, Suvisaari, J, Svrakic, Dm, Szatkiewicz, Jp, Sderman, E, Thirumalai, S, Toncheva, D, Tooney, Pa, Tosato, Sarah, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, Bt, Weiser, M, Wildenauer, Db, Williams, Nm, Williams, S, Witt, Sh, Wolen, Ar, Wong, Eh, Wormley, Bk, Jq, Wu, Hs, Xi, Zai, Cc, Zheng, X, Zimprich, F, Wray, Nr, Stefansson, K, Visscher, Pm, Adolfsson, R, Andreassen, Oa, Blackwood, Dh, Bramon, E, Buxbaum, Jd, Brglum, Ad, Cichon, S, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, Pv, Gill, M, Gurling, H, Hultman, Cm, Iwata, N, Jablensky, Av, Jönsson, Eg, Kendler, Ks, Kirov, G, Knight, J, Lencz, T, Levinson, Df, Qs, Li, Liu, J, Malhotra, Ak, Mccarroll, Sa, Mcquillin, A, Moran, Jl, Mowry, Bj, Nthen, Mm, Ophoff, Ra, Owen, Mj, Palotie, A, Pato, Cn, Petryshen, Tl, Posthuma, D, Rietschel, M, Riley, Bp, Rujescu, D, Sham, Pc, Sklar, P, Clair, St, Weinberger, Dr, Wendland, Jr, Werge, T, Daly, Mj, Sullivan, Pf, O'Donovan, Mc, Chambert, K, Akterin, S, Bergen, S, Ruderfer, D, Scolnick, E, Purcell, S, Mccarroll, S, Daly, M, Pasaniuc, B, Raychaudhuri, S, Price, Al, Gusev, Alexander, Lee, S Hong, Trynka, Gosia, Finucane, Hilary K, Price, Alkes L, Schizophrenia Working Group of the Psychiatric Genomics Consortium, SWE-SCZ Consortium, ANS - Amsterdam Neuroscience, Adult Psychiatry, Other departments, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, Complex Trait Genetics, Functional Genomics, and Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease
Subjects: Linkage disequilibrium, GWAS, schizophrenia, SNP, trait heritability, disease architecture, Inheritance Patterns, Single-nucleotide polymorphism, Genome-wide association study, Biology, Article, Open Reading Frames, SDG 3 - Good Health and Well-being, Genetic, Models, Genotype, Genetics, Humans, Genetics(clinical), Computer Simulation, Regulatory Elements, Transcriptional, Exome, Genetics (clinical), genotype imputation, Genetic association, Genetics & Heredity, genome-wide association study, Models, Genetic, Genetic Diseases, Inborn, Genetic Variation, Heritability, exome chips, Regulatory Elements, Inborn, Genetic Diseases, Transcriptional, coding variants, Genome-Wide Association Study
Abstract: Regulatory and coding variants are known to be enriched with associations identified by genome-wide association studies (GWASs) of complex disease, but their contributions to trait heritability are currently unknown. We applied variance-component methods to imputed genotype data for 11 common diseases to partition the heritability explained by genotyped SNPs (h(g)(2)) across functional categories (while accounting for shared variance due to linkage disequilibrium). Extensive simulations showed that in contrast to current estimates from GWAS summary statistics, the variance-component approach partitions heritability accurately under a wide range of complex-disease architectures. Across the 11 diseases DNaseI hypersensitivity sites (DHSs) from 217 cell types spanned 16% of imputed SNPs (and 24% of genotyped SNPs) but explained an average of 79% (SE = 8%) of h(g)(2) from imputed SNPs (5.1 x enrichment; p = 3.7 x 10(-17)) and 38% (SE = 4%) of h(g)(2) from genotyped SNPs (1.6 x enrichment, p = 1.0 x 10(-4)). Further enrichment was observed at enhancer DHSs and cell-type-specific DHSs. In contrast, coding variants, which span 1% of the genome, explained
Published: 2014

18. Measurements of indirect C P Asymmetries in D 0 → K - K + and D 0 → π - π + decays

Author: Aaij, R., Adeva, B., Adinolfi, M., Adrover, C., Affolder, A., Ajaltouni, Z., Albrecht, J., Alessio, F., Alexander, M., Ali, S., Alkhazov, G., Alvarez Cartelle, P., Alves, A. A., Amato, S., Amerio, S., Amhis, Y., Anderlini, L., Anderson, J., Andreassen, P.R., Andrews, J.E., Appleby, R. B., Aquines Gutierrez, O., Archilli, F., Artamonov, A., Artuso, M., Aslanides, E., Auriemma, G., Baalouch, M., Bachmann, S., Back, J. J., Badalov, A., Baesso, C., Balagura, V., Baldini, W., Barlow, R. J., Barschel, C., Barsuk, S., Barter, W., Bauer, Th., Bay, A., Beddow, J., Bedeschi, F., Bediaga, I., Belogurov, S., Belous, K., Belyaev, I., Ben-Haim, E., Bencivenni, G., Benson, S., Benton, J., Berezhnoy, A., Bernet, R., Bettler, M-O., Van Beuzekom, Martin, Bien, A., Bifani, S., Bird, T.D., Bizzeti, A., Bjørnstad, P. M., Blake, T., Blanc, F., Blouw, J., Blusk, S., Bocci, V., Bondar, A., Bondar, N., Bonivento, W., Borghi, S., Borgia, A., Bowcock, T. J. V., Bowen, E., Bozzi, C., Brambach, T., Van Den Brand, J., Bressieux, J., Brett, D., Britsch, M., Britton, T., Brook, N. H., Brown, H., Bursche, A., Busetto, G., Buytaert, J., Cadeddu, S., Callot, O., Calvi, M., Calvo Gomez, M., Camboni, A., Campana, P., Campora Perez, D., Carbone, A., Carboni, G., Cardinale, R., Cardini, A., Carranza-Mejia, H., Carson, L., Carvalho Akiba, K., Casse, G., Castillo Garcia, L., Cattaneo, M., Cauet, Ch, Cenci, R., Charles, M., Charpentier, Ph, Cheung, S-F., Chiapolini, N., Chrzaszcz, M., Ciba, K., Cid Vidal, X., Ciezarek, G., Clarke, P. E. L., Clemencic, M., Cliff, H. V., Closier, J., Coca-Pelaz, A., Coco, V., Cogan, J., Cogneras, E., Collins, P., Comerma-Montells, A., Contu, A., Cook, A., Coombes, M., Coquereau, S., Corti, G., Couturier, B., Cowan, G. A., Craik, D. C., Cruz Torres, M., Cunliffe, S., Currie, C.R., D'Ambrosio, C., David, P., Davis, A., De Bonis, I., De Bruyn, K., De Capua, S., De Cian, M., de Miranda, J. M., Paula, L.E., da-Silva, W.S., De Simone, P., Decamp, D., Deckenhoff, M., Del Buono, L., Déléage, N., Derkach, D., Deschamps, O., Dettori, F., Di Canto, A., Dijkstra, H., Dogaru, M., Donleavy, S., Dordei, F., Dosil Suárez, A., Dossett, D., Dovbnya, A., Dupertuis, F., Durante, P., Dzhelyadin, R., Dziurda, A., Dzyuba, A., Easo, S., Egede, U., Egorychev, V., Eidelman, S., Van Eijk, D., Eisenhardt, S., Eitschberger, U., Ekelhof, R., Eklund, L., El Rifai, I., Elsasser, Ch., Falabella, A., Färber, C., Farinelli, C., Farry, S., Ferguson, D., Fernandez Albor, V., Ferreira Rodrigues, F., Ferro-Luzzi, M., Filippov, S., Fiore, M., Fitzpatrick, C., Fontana, Mark, Fontanelli, F., Forty, R., De Aguiar Francisco, O., Frank, M., Frei, C., Frosini, M., Furfaro, E., Gallas Torreira, A., Galli, D., Gandelman, M., Gandini, P., Gao, Y., Garofoli, J., Garosi, P., Garra Tico, J., Garrido, L., Carvalho-Gaspar, M., Gauld, Rhorry, Gersabeck, E., Gersabeck, M., Gershon, T. J., Ghez, Ph, Gibson, V., Giubega, L., Gligorov, V. V., Göbel, C., Golubkov, D., Golutvin, A., Gomes, A.Q., Gorbounov, P., Head-Gordon, Teresa, Grabalosa Gándara, M., Graciani Diaz, R., Granado Cardoso, L. A., Graugés, E., Graziani, G., Grecu, A., Greening, E., Gregson, S., Griffith, P., Grillo, L., Grünberg, O., Gui, B., Gushchin, E., Guz, Yu, Gys, T., Hadjivasiliou, C., Haefeli, G., Haen, C., Haines, S. C., Hall, S., Hamilton, B., Hampson, T., Hansmann-Menzemer, S., Harnew, N., Harnew, S. T., Harrison, J., Hartmann, T., He, J., Head, T., Heijne, V., Hennessy, K., Henrard, P., Hernando Morata, J. A., van Herwijnen, E., Heß, M., Hicheur, A., Hicks, G.E., Hill, D., Hoballah, M., Hombach, C., Hulsbergen, W., Hunt, P., Huse, J.T., Hussain, N., Hutchcroft, D. E., Hynds, D., Iakovenko, V., Idzik, M., Ilten, P., Jacobsson, R., Jaeger, A., Jans, E., Jaton, P., Jawahery, A., Jing, F., John, M., Johnson, D., Jones, C. R., Joram, C., Jost, B., Kaballo, M., Kandybei, S., Kanso, W., Karacson, M., Karbach, T. M., Kenyon, I. R., Ketel, T., Khanji, B., Kochebina, O., Komarov, I., Koopman, R. F., Koppenburg, P., Korolev, M., Kozlinskiy, A., Kravchuk, L., Kreplin, K., Kreps, M., Krocker, G., Krokovny, P., Kruse, F., Kucharczyk, M., Kudryavtsev, V., Kurek, K., Kvaratskheliya, T., La Thi, V. N., Lacarrere, D., Lafferty, G. D., Lai, A., Lambert, D.M., Lambert, R. W., Lanciotti, E., Lanfranchi, G., Langenbruch, C., Latham, T. E., Lazzeroni, C., Le Gac, R., Van Leerdam, J., Lees, J. P., Lefèvre, R., Leflat, A., Lefrançois, J., Di Leo, S., Leroy, O., Lesiak, T., Leverington, B., Li, Y., Li Gioi, L., Liles, M., Lindner, R., Linn, S.C., Liu, B., Liu, G., Lohn, S., Longstaff, I., Lopes, J. H., Lopez-March, N., Lu, H., Lucchesi, D., Luisier, J., Luo, H., Lupton, O., Machefert, F., Machikhiliyan, I. V., Maciuc, F., Maev, O., Malde, S., Manca, G., Mancinelli, G., Maratas, J., Marconi, U., Marino, P., Märki, R., Marks, J., Martellotti, G., Martens, A., Martín Sánchez, A., Martinelli-Boneschi, F., Martinez-Santos, D., Martins Tostes, D., Martynov, A., Massafferri, A., Matev, R., Mathe, Z., Matteuzzi, C., Maurice, E., Mazurov, A., McCarthy, J., Mcnab, A., McNulty, R., McSkelly, B., Meadows, B. T., Meier, F., Meissner, M., Merk, M., Milanes, D. A., Minard, M. N., Molina Rodriguez, J., Monteil, S., Moran-Zenteno, D., Morawski, P., Mordà, A., Morello, M. J., Mountain, R., Mous, I., Muheim, F., Müller, Karl, Muresan, R., Muryn, B., Muster, B., Naik, P., Nakada, T., Nandakumar, R., Nasteva, I., Needham, M., Neubert, S., Neufeld, N., Nguyen, A. D., Nguyen, T. D., Nguyen-Mau, C., Nicol, M., Niess, V., Niet, R., Nikitin, N., Nikodem, T., Nomerotski, A., Novoselov, A., Oblakowska-Mucha, A., Obraztsov, V., Oggero, S., Ogilvy, S., Okhrimenko, O., Oldeman, R., Orlandea, M., Otalora Goicochea, J. M., Owen, R.P., Oyanguren, A., Pal, B. K., Palano, A., Palutan, M., Panman, J., Papanestis, A., Pappagallo, M., Parkes, C., Parkinson, C. J., Passaleva, G., Patel, G. D., Patel, M., Patrick, G. N., Patrignani, C., Pavel-Nicorescu, C., Pazos Alvarez, A., Pearce, D.A., Pellegrino, A., Penso, G., Pepe Altarelli, M., Perazzini, S., Perez Trigo, E., Pérez-Calero Yzquierdo, A., Perret, P., Perrin-Terrin, M., Pescatore, L., Pesen, E., Pessina, G., Petridis, K., Petrolini, A., Phan, A., Picatoste Olloqui, E., Pietrzyk, B., Pilař, T., Pinci, D., Playfer, S., Plo Casasus, M., Polci, F., Polok, G., Poluektov, A., Polycarpo, E., Popov, A., Popov, D., Popovici, B., Potterat, C., Powell, A., Prisciandaro, J., Pritchard, C.A., Prouve, C., Pugatch, V., Puig Navarro, A., Punzi, G., Qian, Y.W., Rachwal, B., Rademacker, J. H., Rakotomiaramanana, B., Rangel, M. S., Raniuk, I., Rauschmayr, N., Raven, G., Redford, S., Reichert, S., Reid, M., dos Reis, A. C., Ricciardi, S., Richards, Al., Rinnert, K., Rives Molina, V., Roa Romero, D. A., Robbe, P., Roberts, D. A., Rodrigues, A. B., Rodrigues, L.E.T., Rodriguez Perez, P., Roiser, S., Romanovsky, V., Romero Vidal, A., Rotondo, M., Rouvinet, J., Ruf, T., Ruffini, F., Ruiz, van Hapere, Ruiz Valls, P., Sabatino, G., Saborido Silva, J. J., Sagidova, N., Sail, P., Saitta, B., Salustino Guimaraes, V., Sanmartin Sedes, B., Santacesaria, R., Santamarina Rios, C., Santovetti, E., Sapunov, M., Sarti, A., Satriano, C., Satta, A., Savrie, M., Savrina, D., Schiller, M., Schindler, R. H., Schlupp, M., Schmelling, M., Schmidt, B., Schneider, O., Schopper, A., Schune, M. H., Schwemmer, R., Sciascia, B., Sciubba, A., Seco, M., Semennikov, A., Senderowska, K., Sepp, I., Serra, N., Serrano, J., Seyfert, P., Shapkin, M., Shapoval, I., Shcheglov, Y., Shears, T., Shekhtman, L., Shevchenko, O., Shevchenko, V., Shires, A., Silva Coutinho, R., Sirendi, M., Skidmore, N., Skwarnicki, T., Smith, N. A., Smith, E., Smith, J, Smith, M., Sokoloff, M. D., Soler, F. J. P., Soomro, F., de Souza, D.K., Souza De Paula, B., Spaan, B., Sparkes, A., Spradlin, P., Stagni, F., Stahl, S., Steinkamp, O., Stevenson-Moore, P., Stoica, S., Stone, S., Storaci, B., Straticiuc, M., Straumann, U., Subbiah, V. K., Sun, L., Sutcliffe, W., Swientek, S., Syropoulos, V., Szczekowski, M., Szczypka, P., Szilard, D., Szumlak, T., T'Jampens, S., Teklishyn, M., Teodorescu, E., Teubert, F., Thomas, C., Thomas, E., Van Tilburg, J., Tisserand, V., Tobin, M. N., Tolk, S., Tonelli, D., Topp-Joergensen, S., Torr, N., Tournefier, E., Tourneur, S., Tran, N.T.M.T., Tresch, M., Tsaregorodtsev, A., Tsopelas, P., Tuning, N., Ubeda Garcia, M., Ukleja, A., Ustyuzhanin, A., Uwer, U., Vagnoni, V., Valenti, G., Vallier, A., Vazquez Gomez, R., Vazquez Regueiro, P., Vázquez Sierra, C., Vecchi, S., Velthuis, M.J., Veltri, M., Veneziano, G., Vesterinen, M., Viaud, B., Vieira, D., Vilasis-Cardona, X., Vollhardt, A., Volyanskyy, D., Voong, D., Vorobyev, A., Vorobyev, V., Voß, C., Voss, H., Waldi, R., Wallace, C., Wallace, R., Wandernoth, S., Wang, J., Ward, D. R., Watson, N. K., Webber, A. D., Websdale, D., Whitehead, M., Wicht, J., Wiechczynski, J., Wiedner, D., Wiggers, L., Wilkinson, G., Williams, M.P., Williams, M., Wilson, James F, Wimberley, J., Wishahi, J., Wislicki, W., Witek, M., Wormser, G., Wotton, S. A., Wright, S.J., Wu, S., Wyllie, K., Xie, Y., Xing, Z., Yang, Z., Yuan, X., Yushchenko, O., Zangoli, M., Zavertyaev, M., Zhang, F., Zhang, L., Zhang, W. C., Zhang, Y., Zhelezov, A., Zhokhov, A., Zhong, L., Zvyagin, A., (Astro)-Particles Physics, and Theoretical Physics
Subjects: SDG 7 - Affordable and Clean Energy
Abstract: A study of indirect CP violation in D0 mesons through the determination of the parameter AΓ is presented using a data sample of pp collisions, corresponding to an integrated luminosity of 1.0 fb-1, collected with the LHCb detector and recorded at the center-of-mass energy of 7 TeV at the LHC. The parameter AΓ is the asymmetry of the effective lifetimes measured in decays of D0 and D̄â€0 mesons to the CP eigenstates K-K+ and π-π+. Fits to the data sample yield AΓ(KK)=(-0.35±0. 62±0.12)×10-3 and AΓ(ππ)=(0.33±1.06±0.14) ×10-3, where the first uncertainties are statistical and the second systematic. The results represent the world's best measurements of these quantities. They show no difference in AΓ between the two final states and no indication of CP violation.
Published: 2014

19. Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Author: Ripke, S, O'Dushlaine, C, Chambert, K, Moran, Jl, Kähler, Ak, Akterin, S, Bergen, Se, Collins, Al, Crowley, Jj, Fromer, M, Kim, Y, Lee, Sh, Magnusson, Pk, Sanchez, N, Stahl, Ea, Williams, S, Wray, Nr, Xia, K, Bettella, F, Borglum, Ad, Bulik Sullivan, Bk, Cormican, P, Craddock, N, Leeuw, De, C, Durmishi, N, Gill, M, Golimbet, V, Hamshere, Ml, Holmans, P, Hougaard, Dm, Kendler, Ks, Lin, K, Morris, Dw, Mors, O, Mortensen, Pb, Neale, Bm, O'Neill, Fa, Owen, Mj, Milovancevic, Mp, Posthuma, D, Powell, J, Richards, Al, Riley, Bp, Ruderfer, D, Rujescu, D, Sigurdsson, E, Silagadze, T, Smit, Ab, Stefansson, H, Steinberg, S, Suvisaari, J, Tosato, Sarah, Verhage, M, Walters, Jt, Multicenter Genetic Studies of Schizophrenia Consortium, Levinson, Df, Gejman, Pv, Laurent, C, Mowry, Bj, O'Donovan, Mc, Pulver, Ae, Schwab, Sg, Wildenauer, Db, Dudbridge, F, Shi, J, Albus, M, Alexander, M, Campion, D, Cohen, D, Dikeos, D, Duan, J, Eichhammer, P, Godard, S, Hansen, M, Lerer, Fb, Liang, Ky, Maier, W, Mallet, J, Nertney, Da, Nestadt, G, Norton, N, Papadimitriou, Gn, Ribble, R, Sanders, Ar, Silverman, Jm, Walsh, D, Williams, Nm, Wormley, B, Psychosis Endophenotypes International Consortium, Arranz, Mj, Bakker, S, Bender, S, Bramon, E, Collier, D, Crespo Facorro, B, Hall, J, Iyegbe, C, Jablensky, A, Kahn, Rs, Kalaydjieva, L, Lawrie, S, Lewis, Cm, Linszen, Dh, Mata, I, Mcintosh, A, Murray, Rm, Ophoff, Ra, Van, Os, J, Walshe, M, Weisbrod, M, Wiersma, D, Wellcome Trust Case Control Consortium 2, Donnelly, P, Barroso, I, Blackwell, Jm, Brown, Ma, Casas, Jp, Corvin, Ap, Deloukas, P, Duncanson, A, Jankowski, J, Markus, Hs, Mathew, Cg, Palmer, Cn, Plomin, R, Rautanen, A, Sawcer, Sj, Trembath, Rc, Viswanathan, Ac, Wood, Nw, Spencer, Cc, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, Rd, Strange, A, Su, Z, Vukcevic, D, Langford, C, Hunt, Se, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, Sj, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, Mccann, Ot, Liddle, J, Potter, Sc, Ravindrarajah, R, Ricketts, M, Tashakkori Ghanbaria, A, Waller, Mj, Weston, P, Widaa, S, Whittaker, P, Mccarthy, Mi, Stefansson, K, Scolnick, E, Purcell, S, Mccarroll, Sa, Sklar, P, Hultman, Cm, Sullivan, P. F., Functional Genomics, Molecular and Cellular Neurobiology, AIMMS, Neuroscience Campus Amsterdam - Neurobiology of Mental Health, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, Adult Psychiatry, Ripke, Stephan, O'Dushlaine, Colm, Chambert, Kimberly, Moran, Jennifer L, Lee, Sang Hong, Sullivan, Patrick F, Multicenter Genetic Studies of Schizophrenia Consortium, Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA USA Univ N Carolina, Dept Genet, Chapel Hill, NC 27515 USA Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden Oslo Univ Hosp, Div Mental Hlth & Addict, Oslo, Norway Icahn Sch Med Mt Sinai, Dept Psychiat, Div Psychiat Genom, New York, NY USA Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia Univ N Carolina, Dept Psychiat, Chapel Hill, NC USA deCODE Genet, Reykjavik, Iceland Aarhus Univ Hosp, Risskov, Denmark Aarhus Univ, Ctr Integrat Sequencing iSEQ, Aarhus, Denmark Lundbeck Fdn Initiat Integrat Psychiat Res iPSYCH, Aarhus, Denmark Lundbeck Fdn Initiat Integrat Psychiat Res iPSYCH, Copenhagen, Denmark Univ Dublin Trinity Coll, Dept Psychiat, Dublin 2, Ireland Cardiff Univ, Sch Med, Ctr Psychiat Genet & Genom, MRC, Cardiff CF10 3AX, S Glam, Wales Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Dept Funct Genom, Amsterdam, Netherlands Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands Radboud Univ Nijmegen, Inst Comp & Informat Sci, NL-6525 ED Nijmegen, Netherlands Univ Clin Psychiat, Dept Child & Adolescent Psychiat, Skopje, Macedonia Univ Dublin Trinity Coll, Neuropsychiat Genet Res Grp, Dublin 2, Ireland Russian Acad Med Sci, Mental Hlth Res Ctr, Moscow 109801, Russia Statens Serum Inst, DK-2300 Copenhagen, Denmark Virginia Commonwealth Univ, Dept Psychiat, Richmond, VA USA Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Richmond, VA USA Kings Coll London, Inst Psychiat, London, England Aarhus Univ Hosp, Ctr Psychiat Res, Risskov, Denmark Aarhus Univ, Natl Ctr Register Based Res, Aarhus, DenmarkQueens Univ Belfast, Ctr Publ Hlth, Belfast, Antrim, North Ireland Univ Belgrade, Fac Med, Belgrade, Serbia Erasmus Univ, Med Ctr, Dept Child & Adolescent Psychiat, Rotterdam, Netherlands Kings Coll London, Dept Neurosci, London, England Virginia Commonwealth Univ, Dept Human & Mol Genet, Richmond, VA USA Univ Halle, Dept Psychiat, Halle, Germany Univ Munich, Dept Psychiat, D-80539 Munich, Germany Univ Iceland, Dept Psychiat, Reykjavik, Iceland Landspitali University Hospital Reykjavik, Iceland Tbilisi State Univ, Dept Psychiat, GE-380086 Tbilisi, Rep of Georgia Vrije Univ Amsterdam, Ctr Neurogen & Cognit Res, Amsterdam, Netherlands Vrije Univ Amsterdam, Dept Mol & Cellular Neurosci, Amsterdam, Netherlands Natl Inst Hlth & Welf, Mental Hlth & Subst Abuse Serv, Helsinki, Finland Univ Verona, Sect Psychiat, I-37100 Verona, Italy UCL, Inst Cognit Neurosci, London, England UCL, Mental Hlth Sci Unit, London, England Massachusetts Gen Hosp, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA Harvard Univ, Sch Med, Dept Genet, Boston, MA USA, Child and Adolescent Psychiatry / Psychology, Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience, Human genetics, NCA - Brain mechanisms in health and disease, and NCA - Neurobiology of mental health
Subjects: Male, Candidate gene, SNP, Single-nucleotide polymorphism, Genome-wide association study, Disease, Biology, heritability, neuronal calcium signaling, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, SDG 3 - Good Health and Well-being, Genetics, medicine, Humans, GWAS, Genetic Predisposition to Disease, Bipolar disorder, 030304 developmental biology, Genetic association, Sweden, Genetics & Heredity, 0303 health sciences, medicine.disease, 3. Good health, genome sequencing, schizophrenia, Schizophrenia, Meta-analysis, Case-Control Studies, genetic variation, Female, genome-wide scan, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract: To access publisher's full text version of this article. Please click on the hyperlink in Additional Links field. Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,001 cases and 6,243 controls) followed by meta-analysis with previous schizophrenia GWAS (8,832 cases and 12,067 controls) and finally by replication of SNPs in 168 genomic regions in independent samples (7,413 cases, 19,762 controls and 581 parent-offspring trios). We identified 22 loci associated at genome-wide significance; 13 of these are new, and 1 was previously implicated in bipolar disorder. Examination of candidate genes at these loci suggests the involvement of neuronal calcium signaling. We estimate that 8,300 independent, mostly common SNPs (95% credible interval of 6,300-10,200 SNPs) contribute to risk for schizophrenia and that these collectively account for at least 32% of the variance in liability. Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder. NIMH R01 MH077139 R01 MH095034 Stanley Center for Psychiatric Research Sylvan Herman Foundation Friedman Brain Institute at the Mount Sinai School of Medicine Karolinska Institutet, Karolinska University Hospital Swedish Research Council Swedish County Council Soderstrom Konigska Foundation Netherlands Scientific Organization NWO 645-000-003 info:eu-repo/grantAgreement/EC/FP7/223423 Danish Strategic Research Council H. Lundbeck A/S Faculty of Health Sciences at Aarhus University Lundbeck Foundation Stanley Research Foundation Wellcome Trust 085475/B/08/Z 085475/Z/08/Z
Published: 2013

20. First observation of the decay Bs0 → φ K̄*0

Author: Aaij, R., Abellan Beteta, C., Adeva, B., Adinolfi, M., Adrover, C., Affolder, A., Ajaltouni, Z., Albrecht, J., Alessio, F., Alexander, M., Ali, S., Alkhazov, G., Alvarez Cartelle, P., Alves, A. A., Amato, S., Amerio, S., Amhis, Y., Anderlini, L., Anderson, J., Andreassen, P.R., Appleby, R. B., Aquines Gutierrez, O., Archilli, F., Artamonov, A., Artuso, M., Aslanides, E., Auriemma, G., Bachmann, S., Back, J. J., Baesso, C., Balagura, V., Baldini, W., Barlow, R. J., Barschel, C., Barsuk, S., Barter, W., Bauer, Th., Bay, A., Beddow, J., Bedeschi, F., Bediaga, I., Belogurov, S., Belous, K., Belyaev, I., Ben-Haim, E., Benayoun, M., Bencivenni, G., Benson, S., Benton, J., Berezhnoy, A., Bernet, R., Bettler, M-O., Van Beuzekom, Martin, Bien, A., Bifani, S., Bird, T.D., Bizzeti, A., Bjørnstad, P. M., Blake, T., Blanc, F., Blouw, J., Blusk, S., Bocci, V., Bondar, A., Bondar, N., Bonivento, W., Borghi, S., Borgia, A., Bowcock, T. J. V., Bowen, E., Bozzi, C., Brambach, T., Van Den Brand, J., Bressieux, J., Brett, D., Britsch, M., Britton, T., Brook, N. H., Brown, H., Burducea, I., Bursche, A., Busetto, G., Buytaert, J., Cadeddu, S., Callot, O., Calvi, M., Calvo Gomez, M., Camboni, A., Campana, P., Campora Perez, D., Carbone, A., Carboni, G., Cardinale, R., Cardini, A., Carranza-Mejia, H., Carson, L., Carvalho Akiba, K., Casse, G., Castillo Garcia, L., Cattaneo, M., Cauet, Ch, Charles, M., Charpentier, Ph, Chen, P., Chiapolini, N., Chrzaszcz, M., Ciba, K., Cid Vidal, X., Ciezarek, G., Clarke, P. E. L., Clemencic, M., Cliff, H. V., Closier, J., Coca-Pelaz, A., Coco, V., Cogan, J., Cogneras, E., Collins, P., Comerma-Montells, A., Contu, A., Cook, A., Coombes, M., Coquereau, S., Corti, G., Couturier, B., Cowan, G. A., Craik, D. C., Cunliffe, S., Currie, C.R., D'Ambrosio, C., David, P., David, P. N.Y., Davis, A., De Bonis, I., De Bruyn, K., De Capua, S., De Cian, M., de Miranda, J. M., Paula, L.E., da-Silva, W.S., De Simone, P., Decamp, D., Deckenhoff, M., Del Buono, L., Derkach, D., Deschamps, O., Dettori, F., Di Canto, A., Dijkstra, H., Dogaru, M., Donleavy, S., Dordei, F., Dosil Suárez, A., Dossett, D., Dovbnya, A., Dupertuis, F., Dzhelyadin, R., Dziurda, A., Dzyuba, A., Easo, S., Egede, U., Egorychev, V., Eidelman, S., Van Eijk, D., Eisenhardt, S., Eitschberger, U., Ekelhof, R., Eklund, L., El Rifai, I., Elsasser, Ch., Elsby, D., Falabella, A., Färber, C., Fardell, G., Farinelli, C., Farry, S., Fave, V., Ferguson, D., Fernandez Albor, V., Ferreira Rodrigues, F., Ferro-Luzzi, M., Filippov, S., Fiore, M., Fitzpatrick, C., Fontana, Mark, Fontanelli, F., Forty, R., De Aguiar Francisco, O., Frank, M., Frei, C., Frosini, M., Furcas, S., Furfaro, E., Gallas Torreira, A., Galli, D., Gandelman, M., Gandini, P., Gao, Y., Garofoli, J., Garosi, P., Garra Tico, J., Garrido, L., Carvalho-Gaspar, M., Gauld, Rhorry, Gersabeck, E., Gersabeck, M., Gershon, T. J., Ghez, Ph, Gibson, V., Gligorov, V. V., Göbel, C., Golubkov, D., Golutvin, A., Gomes, A.Q., Head-Gordon, Teresa, Grabalosa Gándara, M., Graciani Diaz, R., Granado Cardoso, L. A., Graugés, E., Graziani, G., Grecu, A., Greening, E., Gregson, S., Grünberg, O., Gui, B., Gushchin, E., Guz, Yu, Gys, T., Hadjivasiliou, C., Haefeli, G., Haen, C., Haines, S. C., Hall, S., Hampson, T., Hansmann-Menzemer, S., Harnew, N., Harnew, S. T., Harrison, J., Hartmann, T., He, J., Heijne, V., Hennessy, K., Henrard, P., Hernando Morata, J. A., van Herwijnen, E., Hicheur, A., Hicks, G.E., Hill, D., Hoballah, M., Holtrop, M., Hombach, C., Hopchev, P., Hulsbergen, W., Hunt, P., Huse, J.T., Hussain, N., Hutchcroft, D. E., Hynds, D., Iakovenko, V., Idzik, M., Ilten, P., Jacobsson, R., Jaeger, A., Jans, E., Jaton, P., Jing, F., John, M., Johnson, D., Jones, C. R., Joram, C., Jost, B., Kaballo, M., Kandybei, S., Karacson, M., Karbach, T. M., Kenyon, I. R., Kerzel, U., Ketel, T., Keune, A., Khanji, B., Kochebina, O., Komarov, I., Koopman, R. F., Koppenburg, P., Korolev, M., Kozlinskiy, A., Kravchuk, L., Kreplin, K., Kreps, M., Krocker, G., Krokovny, P., Kruse, F., Kucharczyk, M., Kudryavtsev, V., Kvaratskheliya, T., La Thi, V. N., Lacarrere, D., Lafferty, G. D., Lai, A., Lambert, D.M., Lambert, R. W., Lanciotti, E., Lanfranchi, G., Langenbruch, C., Latham, T. E., Lazzeroni, C., Le Gac, R., Van Leerdam, J., Lees, J. P., Lefèvre, R., Leflat, A., Lefrançois, J., Di Leo, S., Leroy, O., Lesiak, T., Leverington, B., Li, Y., Li Gioi, L., Liles, M., Lindner, R., Linn, S.C., Liu, B., Liu, G., Lohn, S., Longstaff, I., Lopes, J. H., Lopez Asamar, E., Lopez-March, N., Lu, H., Lucchesi, D., Luisier, J., Luo, H., Machefert, F., Machikhiliyan, I. V., Maciuc, F., Maev, O., Malde, S., Manca, G., Mancinelli, G., Marconi, U., Märki, R., Marks, J., Martellotti, G., Martens, A., Martín Sánchez, A., Martinelli-Boneschi, F., Martinez-Santos, D., Martins Tostes, D., Massafferri, A., Matev, R., Mathe, Z., Matteuzzi, C., Maurice, E., Mazurov, A., McCarthy, J., Mcnab, A., McNulty, R., Meadows, B. T., Meier, F., Meissner, M., Merk, M., Milanes, D. A., Minard, M. N., Molina Rodriguez, J., Monteil, S., Moran-Zenteno, D., Morawski, P., Morello, M. J., Mountain, R., Mous, I., Muheim, F., Müller, Karl, Muresan, R., Muryn, B., Muster, B., Naik, P., Nakada, T., Nandakumar, R., Nasteva, I., Needham, M., Neufeld, N., Nguyen, A. D., Nguyen, T. D., Nguyen-Mau, C., Nicol, M., Niess, V., Niet, R., Nikitin, N., Nikodem, T., Nomerotski, A., Novoselov, A., Oblakowska-Mucha, A., Obraztsov, V., Oggero, S., Ogilvy, S., Okhrimenko, O., Oldeman, R., Orlandea, M., Otalora Goicochea, J. M., Owen, R.P., Oyanguren, A., Pal, B. K., Palano, A., Palutan, M., Panman, J., Papanestis, A., Pappagallo, M., Parkes, C., Parkinson, C. J., Passaleva, G., Patel, G. D., Patel, M., Patrick, G. N., Patrignani, C., Pavel-Nicorescu, C., Pazos Alvarez, A., Pellegrino, A., Penso, G., Pepe Altarelli, M., Perazzini, S., Perego, D. L., Perez Trigo, E., Pérez-Calero Yzquierdo, A., Perret, P., Perrin-Terrin, M., Pessina, G., Petridis, K., Petrolini, A., Phan, A., Picatoste Olloqui, E., Pietrzyk, B., Pilař, T., Pinci, D., Playfer, S., Plo Casasus, M., Polci, F., Polok, G., Poluektov, A., Polycarpo, E., Popov, D., Popovici, B., Potterat, C., Powell, A., Prisciandaro, J., Pritchard, C.A., Prouve, C., Pugatch, V., Puig Navarro, A., Punzi, G., Qian, Y.W., Rademacker, J. H., Rakotomiaramanana, B., Rangel, M. S., Raniuk, I., Rauschmayr, N., Raven, G., Redford, S., Reid, M., dos Reis, A. C., Ricciardi, S., Richards, Al., Rinnert, K., Rives Molina, V., Roa Romero, D. A., Robbe, P., Rodrigues, L.E.T., Rodriguez Perez, P., Roiser, S., Romanovsky, V., Romero Vidal, A., Rouvinet, J., Ruf, T., Ruffini, F., Ruiz, van Hapere, Ruiz Valls, P., Sabatino, G., Saborido Silva, J. J., Sagidova, N., Sail, P., Saitta, B., Salzmann, C., Sanmartin Sedes, B., Sannino, M., Santacesaria, R., Santamarina Rios, C., Santovetti, E., Sapunov, M., Sarti, A., Satriano, C., Satta, A., Savrie, M., Savrina, D., Schaack, P., Schiller, M., Schindler, R. H., Schlupp, M., Schmelling, M., Schmidt, B., Schneider, O., Schopper, A., Schune, M. H., Schwemmer, R., Sciascia, B., Sciubba, A., Seco, M., Semennikov, A., Sepp, I., Serra, N., Serrano, J., Seyfert, P., Shapkin, M., Shapoval, I., Shatalov, P., Shcheglov, Y., Shears, T., Shekhtman, L., Shevchenko, O., Shevchenko, V., Shires, A., Silva Coutinho, R., Skwarnicki, T., Smith, N. A., Smith, E., Smith, M., Sokoloff, M. D., Soler, F. J. P., Soomro, F., de Souza, D.K., Souza De Paula, B., Spaan, B., Sparkes, A., Spradlin, P., Stagni, F., Stahl, S., Steinkamp, O., Stoica, S., Stone, S., Storaci, B., Straticiuc, M., Straumann, U., Subbiah, V. K., Swientek, S., Syropoulos, V., Szczekowski, M., Szczypka, P., Szumlak, T., T'Jampens, S., Teklishyn, M., Teodorescu, E., Teubert, F., Thomas, C., Thomas, E., Van Tilburg, J., Tisserand, V., Tobin, M. N., Tolk, S., Tonelli, D., Topp-Joergensen, S., Torr, N., Tournefier, E., Tourneur, S., Tran, N.T.M.T., Tresch, M., Tsaregorodtsev, A., Tsopelas, P., Tuning, N., Ubeda Garcia, M., Ukleja, A., Urner, D., Uwer, U., Vagnoni, V., Valenti, G., Vazquez Gomez, R., Vazquez Regueiro, P., Vecchi, S., Velthuis, M.J., Veltri, M., Veneziano, G., Vesterinen, M., Viaud, B., Vieira, D., Vilasis-Cardona, X., Vollhardt, A., Volyanskyy, D., Voong, D., Vorobyev, A., Vorobyev, V., Voß, C., Voss, H., Waldi, R., Wallace, R., Wandernoth, S., Wang, J., Ward, D. R., Watson, N. K., Webber, A. D., Websdale, D., Whitehead, M., Wicht, J., Wiechczynski, J., Wiedner, D., Wiggers, L., Wilkinson, G., Williams, M.P., Williams, M., Wilson, James F, Wishahi, J., Witek, M., Wotton, S. A., Wright, S.J., Wu, S., Wyllie, K., Xie, Y., Xing, Z., Yang, Z., Young, D. R., Yuan, X., Yushchenko, O., Zangoli, M., Zavertyaev, M., Zhang, F., Zhang, L., Zhang, W. C., Zhang, Y., Zhelezov, A., Zhokhov, A., Zhong, L., Zvyagin, A., Aaij, R, Abellan Beteta, C, Adeva, B, Adinolfi, M, Adrover, C, Affolder, A, Ajaltouni, Z, Albrecht, J, Alessio, F, Alexander, M, Ali, S, Alkhazov, G, Alvarez Cartelle, P, A. 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S, Fave, V, Ferguson, D, Fernandez Albor, V, Ferreira Rodrigues, F, Ferro Luzzi, M, Filippov, S, Fiore, M, Fitzpatrick, C, Fontana, M, Fontanelli, F, Forty, R, Francisco, O, Frank, M, Frei, C, Frosini, M, Furcas, S, Furfaro, E, Gallas Torreira, A, Galli, D, Gandelman, M, Gandini, P, Gao, Y, Garofoli, J, Garosi, P, Garra Tico, J, Garrido, L, Gaspar, C, Gauld, R, Gersabeck, E, Gersabeck, M, Gershon, T, Ghez, P, Gibson, V, Gligorov, V, Göbel, C, Golubkov, D, Golutvin, A, Gomes, A, Gordon, H, Grabalosa Gándara, M, Graciani Diaz, R, Granado Cardoso, L, Graugés, E, Graziani, G, Grecu, A, Greening, E, Gregson, S, Grünberg, O, Gui, B, Gushchin, E, Guz, Y, Gys, T, Hadjivasiliou, C, Haefeli, G, Haen, C, Haines, S, Hall, S, Hampson, T, Hansmann Menzemer, S, Harnew, N, Harnew, S, Harrison, J, Hartmann, T, He, J, Heijne, V, Hennessy, K, Henrard, P, Hernando Morata, J, Van Herwijnen, E, Hicheur, A, Hicks, E, Hill, D, Hoballah, M, Holtrop, M, Hombach, C, Hopchev, P, Hulsbergen, W, Hunt, P, Huse, T, 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Marconi, U, Märki, R, Marks, J, Martellotti, G, Martens, A, Martín Sánchez, A, Martinelli, M, Martinez Santos, D, Martins Tostes, D, Massafferri, A, Matev, R, Mathe, Z, Matteuzzi, C, Maurice, E, Mazurov, A, Mccarthy, J, Mcnab, A, Mcnulty, R, Meadows, B, Meier, F, Meissner, M, Merk, M, Milanes, D, Minard, M, Molina Rodriguez, J, Monteil, S, Moran, D, Morawski, P, Morello, M, Mountain, R, Mous, I, Muheim, F, Müller, K, Muresan, R, Muryn, B, Muster, B, Naik, P, Nakada, T, Nandakumar, R, Nasteva, I, Needham, M, Neufeld, N, Nguyen, A, Nguyen, T, Nguyen Mau, C, Nicol, M, Niess, V, Niet, R, Nikitin, N, Nikodem, T, Nomerotski, A, Novoselov, A, Oblakowska Mucha, A, Obraztsov, V, Oggero, S, Ogilvy, S, Okhrimenko, O, Oldeman, R, Orlandea, M, Otalora Goicochea, J, Owen, P, Oyanguren, A, Pal, B, Palano, A, Palutan, M, Panman, J, Papanestis, A, Pappagallo, M, Parkes, C, Parkinson, C, Passaleva, G, Patel, G, Patel, M, Patrick, G, Patrignani, C, Pavel Nicorescu, C, Pazos Alvarez, A, Pellegrino, A, 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Subjects: Hadron-Hadron scattering, Flavor physics, Nuclear and High Energy Physics, FIS/01 - FISICA SPERIMENTALE, B physic, TheoryofComputation_ANALYSISOFALGORITHMSANDPROBLEMCOMPLEXITY, Flavor physic, B physics, Flavour changing neutral currents, Flavour changing neutral current
Abstract: The first observation of the decay Bs 0 → φK̄*0 is reported. The analysis is based on a data sample corresponding to an integrated luminosity of 1.0 fb-1 of pp collisions at √s = 7 TeV, collected with the LHCb detector. A yield of 30 ± 6 Bs 0 → (K+K-)(K -π+) decays is found in the mass windows 1012.5 < M(K+K) < 1026.5MeV/c2 and 746 < M(K -π+) < 1046MeV/c2. The signal yield is found to be dominated by Bs 0 → φK̄* 0 decays, and the corresponding branching fraction is measured to be B(Bs 0 → φK̄*0) = (1.10 ± 0.24 (stat) ± 0:14 (syst) ± 0.08 (fd/f s)) × 10-6, where the uncertainties are statistical, systematic and from the ratio of fragmentation fractions fd/f s which accounts for the different production rate of B0 and Bs 0 mesons. The significance of Bs 0 → φK̄*0 signal is 6.1 standard deviations. The fraction of longitudinal polarization in Bs 0 → φK̄*0 decays is found to be f 0 = 0.51 ± 0:15 (stat) ± 0.07 (syst). Copyright CERN.
Published: 2013

21. First observation of the decay Bs 0 → φ K̄*0

Author: Aaij, R., Abellan Beteta, C., Adeva, B., Adinolfi, M., Adrover, C., Affolder, A., Ajaltouni, Z., Albrecht, J., Alessio, F., Alexander, M., Ali, S., Alkhazov, G., Alvarez Cartelle, P., Alves, A. A., Amato, S., Amerio, S., Amhis, Y., Anderlini, L., Anderson, J., Andreassen, P.R., Appleby, R. B., Aquines Gutierrez, O., Archilli, F., Artamonov, A., Artuso, M., Aslanides, E., Auriemma, G., Bachmann, S., Back, J. J., Baesso, C., Balagura, V., Baldini, W., Barlow, R. J., Barschel, C., Barsuk, S., Barter, W., Bauer, Th., Bay, A., Beddow, J., Bedeschi, F., Bediaga, I., Belogurov, S., Belous, K., Belyaev, I., Ben-Haim, E., Benayoun, M., Bencivenni, G., Benson, S., Benton, J., Berezhnoy, A., Bernet, R., Bettler, M-O., Van Beuzekom, Martin, Bien, A., Bifani, S., Bird, T.D., Bizzeti, A., Bjørnstad, P. M., Blake, T., Blanc, F., Blouw, J., Blusk, S., Bocci, V., Bondar, A., Bondar, N., Bonivento, W., Borghi, S., Borgia, A., Bowcock, T. J. V., Bowen, E., Bozzi, C., Brambach, T., Van Den Brand, J., Bressieux, J., Brett, D., Britsch, M., Britton, T., Brook, N. H., Brown, H., Burducea, I., Bursche, A., Busetto, G., Buytaert, J., Cadeddu, S., Callot, O., Calvi, M., Calvo Gomez, M., Camboni, A., Campana, P., Campora Perez, D., Carbone, A., Carboni, G., Cardinale, R., Cardini, A., Carranza-Mejia, H., Carson, L., Carvalho Akiba, K., Casse, G., Castillo Garcia, L., Cattaneo, M., Cauet, Ch, Charles, M., Charpentier, Ph, Chen, P., Chiapolini, N., Chrzaszcz, M., Ciba, K., Cid Vidal, X., Ciezarek, G., Clarke, P. E. L., Clemencic, M., Cliff, H. V., Closier, J., Coca-Pelaz, A., Coco, V., Cogan, J., Cogneras, E., Collins, P., Comerma-Montells, A., Contu, A., Cook, A., Coombes, M., Coquereau, S., Corti, G., Couturier, B., Cowan, G. A., Craik, D. C., Cunliffe, S., Currie, C.R., D'Ambrosio, C., David, P., David, P. N.Y., Davis, A., De Bonis, I., De Bruyn, K., De Capua, S., De Cian, M., de Miranda, J. M., Paula, L.E., da-Silva, W.S., De Simone, P., Decamp, D., Deckenhoff, M., Del Buono, L., Derkach, D., Deschamps, O., Dettori, F., Di Canto, A., Dijkstra, H., Dogaru, M., Donleavy, S., Dordei, F., Dosil Suárez, A., Dossett, D., Dovbnya, A., Dupertuis, F., Dzhelyadin, R., Dziurda, A., Dzyuba, A., Easo, S., Egede, U., Egorychev, V., Eidelman, S., Van Eijk, D., Eisenhardt, S., Eitschberger, U., Ekelhof, R., Eklund, L., El Rifai, I., Elsasser, Ch., Elsby, D., Falabella, A., Färber, C., Fardell, G., Farinelli, C., Farry, S., Fave, V., Ferguson, D., Fernandez Albor, V., Ferreira Rodrigues, F., Ferro-Luzzi, M., Filippov, S., Fiore, M., Fitzpatrick, C., Fontana, Mark, Fontanelli, F., Forty, R., De Aguiar Francisco, O., Frank, M., Frei, C., Frosini, M., Furcas, S., Furfaro, E., Gallas Torreira, A., Galli, D., Gandelman, M., Gandini, P., Gao, Y., Garofoli, J., Garosi, P., Garra Tico, J., Garrido, L., Carvalho-Gaspar, M., Gauld, Rhorry, Gersabeck, E., Gersabeck, M., Gershon, T. J., Ghez, Ph, Gibson, V., Gligorov, V. V., Göbel, C., Golubkov, D., Golutvin, A., Gomes, A.Q., Head-Gordon, Teresa, Grabalosa Gándara, M., Graciani Diaz, R., Granado Cardoso, L. A., Graugés, E., Graziani, G., Grecu, A., Greening, E., Gregson, S., Grünberg, O., Gui, B., Gushchin, E., Guz, Yu, Gys, T., Hadjivasiliou, C., Haefeli, G., Haen, C., Haines, S. C., Hall, S., Hampson, T., Hansmann-Menzemer, S., Harnew, N., Harnew, S. T., Harrison, J., Hartmann, T., He, J., Heijne, V., Hennessy, K., Henrard, P., Hernando Morata, J. A., van Herwijnen, E., Hicheur, A., Hicks, G.E., Hill, D., Hoballah, M., Holtrop, M., Hombach, C., Hopchev, P., Hulsbergen, W., Hunt, P., Huse, J.T., Hussain, N., Hutchcroft, D. E., Hynds, D., Iakovenko, V., Idzik, M., Ilten, P., Jacobsson, R., Jaeger, A., Jans, E., Jaton, P., Jing, F., John, M., Johnson, D., Jones, C. R., Joram, C., Jost, B., Kaballo, M., Kandybei, S., Karacson, M., Karbach, T. M., Kenyon, I. R., Kerzel, U., Ketel, T., Keune, A., Khanji, B., Kochebina, O., Komarov, I., Koopman, R. F., Koppenburg, P., Korolev, M., Kozlinskiy, A., Kravchuk, L., Kreplin, K., Kreps, M., Krocker, G., Krokovny, P., Kruse, F., Kucharczyk, M., Kudryavtsev, V., Kvaratskheliya, T., La Thi, V. N., Lacarrere, D., Lafferty, G. D., Lai, A., Lambert, D.M., Lambert, R. W., Lanciotti, E., Lanfranchi, G., Langenbruch, C., Latham, T. E., Lazzeroni, C., Le Gac, R., Van Leerdam, J., Lees, J. P., Lefèvre, R., Leflat, A., Lefrançois, J., Di Leo, S., Leroy, O., Lesiak, T., Leverington, B., Li, Y., Li Gioi, L., Liles, M., Lindner, R., Linn, S.C., Liu, B., Liu, G., Lohn, S., Longstaff, I., Lopes, J. H., Lopez Asamar, E., Lopez-March, N., Lu, H., Lucchesi, D., Luisier, J., Luo, H., Machefert, F., Machikhiliyan, I. V., Maciuc, F., Maev, O., Malde, S., Manca, G., Mancinelli, G., Marconi, U., Märki, R., Marks, J., Martellotti, G., Martens, A., Martín Sánchez, A., Martinelli-Boneschi, F., Martinez-Santos, D., Martins Tostes, D., Massafferri, A., Matev, R., Mathe, Z., Matteuzzi, C., Maurice, E., Mazurov, A., McCarthy, J., Mcnab, A., McNulty, R., Meadows, B. T., Meier, F., Meissner, M., Merk, M., Milanes, D. A., Minard, M. N., Molina Rodriguez, J., Monteil, S., Moran-Zenteno, D., Morawski, P., Morello, M. J., Mountain, R., Mous, I., Muheim, F., Müller, Karl, Muresan, R., Muryn, B., Muster, B., Naik, P., Nakada, T., Nandakumar, R., Nasteva, I., Needham, M., Neufeld, N., Nguyen, A. D., Nguyen, T. D., Nguyen-Mau, C., Nicol, M., Niess, V., Niet, R., Nikitin, N., Nikodem, T., Nomerotski, A., Novoselov, A., Oblakowska-Mucha, A., Obraztsov, V., Oggero, S., Ogilvy, S., Okhrimenko, O., Oldeman, R., Orlandea, M., Otalora Goicochea, J. M., Owen, R.P., Oyanguren, A., Pal, B. K., Palano, A., Palutan, M., Panman, J., Papanestis, A., Pappagallo, M., Parkes, C., Parkinson, C. J., Passaleva, G., Patel, G. D., Patel, M., Patrick, G. N., Patrignani, C., Pavel-Nicorescu, C., Pazos Alvarez, A., Pellegrino, A., Penso, G., Pepe Altarelli, M., Perazzini, S., Perego, D. L., Perez Trigo, E., Pérez-Calero Yzquierdo, A., Perret, P., Perrin-Terrin, M., Pessina, G., Petridis, K., Petrolini, A., Phan, A., Picatoste Olloqui, E., Pietrzyk, B., Pilař, T., Pinci, D., Playfer, S., Plo Casasus, M., Polci, F., Polok, G., Poluektov, A., Polycarpo, E., Popov, D., Popovici, B., Potterat, C., Powell, A., Prisciandaro, J., Pritchard, C.A., Prouve, C., Pugatch, V., Puig Navarro, A., Punzi, G., Qian, Y.W., Rademacker, J. H., Rakotomiaramanana, B., Rangel, M. S., Raniuk, I., Rauschmayr, N., Raven, G., Redford, S., Reid, M., dos Reis, A. C., Ricciardi, S., Richards, Al., Rinnert, K., Rives Molina, V., Roa Romero, D. A., Robbe, P., Rodrigues, L.E.T., Rodriguez Perez, P., Roiser, S., Romanovsky, V., Romero Vidal, A., Rouvinet, J., Ruf, T., Ruffini, F., Ruiz, van Hapere, Ruiz Valls, P., Sabatino, G., Saborido Silva, J. J., Sagidova, N., Sail, P., Saitta, B., Salzmann, C., Sanmartin Sedes, B., Sannino, M., Santacesaria, R., Santamarina Rios, C., Santovetti, E., Sapunov, M., Sarti, A., Satriano, C., Satta, A., Savrie, M., Savrina, D., Schaack, P., Schiller, M., Schindler, R. H., Schlupp, M., Schmelling, M., Schmidt, B., Schneider, O., Schopper, A., Schune, M. H., Schwemmer, R., Sciascia, B., Sciubba, A., Seco, M., Semennikov, A., Sepp, I., Serra, N., Serrano, J., Seyfert, P., Shapkin, M., Shapoval, I., Shatalov, P., Shcheglov, Y., Shears, T., Shekhtman, L., Shevchenko, O., Shevchenko, V., Shires, A., Silva Coutinho, R., Skwarnicki, T., Smith, N. A., Smith, E., Smith, M., Sokoloff, M. D., Soler, F. J. P., Soomro, F., de Souza, D.K., Souza De Paula, B., Spaan, B., Sparkes, A., Spradlin, P., Stagni, F., Stahl, S., Steinkamp, O., Stoica, S., Stone, S., Storaci, B., Straticiuc, M., Straumann, U., Subbiah, V. K., Swientek, S., Syropoulos, V., Szczekowski, M., Szczypka, P., Szumlak, T., T'Jampens, S., Teklishyn, M., Teodorescu, E., Teubert, F., Thomas, C., Thomas, E., Van Tilburg, J., Tisserand, V., Tobin, M. N., Tolk, S., Tonelli, D., Topp-Joergensen, S., Torr, N., Tournefier, E., Tourneur, S., Tran, N.T.M.T., Tresch, M., Tsaregorodtsev, A., Tsopelas, P., Tuning, N., Ubeda Garcia, M., Ukleja, A., Urner, D., Uwer, U., Vagnoni, V., Valenti, G., Vazquez Gomez, R., Vazquez Regueiro, P., Vecchi, S., Velthuis, M.J., Veltri, M., Veneziano, G., Vesterinen, M., Viaud, B., Vieira, D., Vilasis-Cardona, X., Vollhardt, A., Volyanskyy, D., Voong, D., Vorobyev, A., Vorobyev, V., Voß, C., Voss, H., Waldi, R., Wallace, R., Wandernoth, S., Wang, J., Ward, D. R., Watson, N. K., Webber, A. D., Websdale, D., Whitehead, M., Wicht, J., Wiechczynski, J., Wiedner, D., Wiggers, L., Wilkinson, G., Williams, M.P., Williams, M., Wilson, James F, Wishahi, J., Witek, M., Wotton, S. A., Wright, S.J., Wu, S., Wyllie, K., Xie, Y., Xing, Z., Yang, Z., Young, D. R., Yuan, X., Yushchenko, O., Zangoli, M., Zavertyaev, M., Zhang, F., Zhang, L., Zhang, W. C., Zhang, Y., Zhelezov, A., Zhokhov, A., Zhong, L., Zvyagin, A., (Astro)-Particles Physics, and Theoretical Physics
Subjects: Hadron-Hadron scattering, Flavor physics, flavour changing neutral currents, hadron-hadron scattering, flavor physics, b physics, Flavour changing neutral currents, B physics
Abstract: The first observation of the decay Bs 0 → φK̄*0 is reported. The analysis is based on a data sample corresponding to an integrated luminosity of 1.0 fb-1 of pp collisions at √s = 7 TeV, collected with the LHCb detector. A yield of 30 ± 6 Bs 0 → (K+K-)(K -π+) decays is found in the mass windows 1012.5 < M(K+K) < 1026.5MeV/c2 and 746 < M(K -π+) < 1046MeV/c2. The signal yield is found to be dominated by Bs 0 → φK̄* 0 decays, and the corresponding branching fraction is measured to be B(Bs 0 → φK̄*0) = (1.10 ± 0.24 (stat) ± 0:14 (syst) ± 0.08 (fd/f s)) × 10-6, where the uncertainties are statistical, systematic and from the ratio of fragmentation fractions fd/f s which accounts for the different production rate of B0 and Bs 0 mesons. The significance of Bs 0 → φK̄*0 signal is 6.1 standard deviations. The fraction of longitudinal polarization in Bs 0 → φK̄*0 decays is found to be f 0 = 0.51 ± 0:15 (stat) ± 0.07 (syst). Copyright CERN.
Published: 2013

22. Biological insights from 108 schizophrenia-associated genetic loci

Author: Ripke, S, Neale, BM, Corvin, A, Walters, JTR, Farh, K-H, Holmans, PA, Lee, P, Bulik-Sullivan, B, Collier, DA, Huang, H, Pers, TH, Agartz, I, Agerbo, E, Albus, M, Alexander, M, Amin, F, Bacanu, SA, Begemann, M, Belliveau, RA, Bene, J, Bergen, SE, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Chan, RCK, Chen, RYL, Chen, EYH, Cheng, W, Cheung, EFC, Chong, SA, Cloninger, CR, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedl, M, Friedman, JI, Fromer, M, Genovese, G, Georgieva, L, Giegling, I, Giusti-Rodriguez, P, Godard, S, Goldstein, JI, Golimbet, V, Gopal, S, Gratten, J, de Haan, L, Hammer, C, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffmann, P, Hofman, A, Hollegaard, MV, Hougaard, DM, Ikeda, M, Joa, I, Julia, A, Kahn, RS, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, MC, Kennedy, JL, Khrunin, A, Kim, Y, Klovins, J, Knowles, JA, Konte, B, Kucinskas, V, Kucinskiene, ZA, Kuzelova-Ptackova, H, Kahler, AK, Laurent, C, Keong, JLC, Lee, SH, Legge, SE, Lerer, B, Li, M, Li, T, Liang, K-Y, Lieberman, J, Limborska, S, Loughland, CM, Lubinski, J, Lonnqvist, J, Macek, M, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melegh, B, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Mors, O, Murphy, KC, Murray, RM, Myin-Germeys, I, Mueller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, FA, Oh, S-Y, Olincy, A, Olsen, L, Van Os, J, Pantelis, C, Papadimitriou, GN, Papiol, S, Parkhomenko, E, Pato, MT, Paunio, T, Pejovic-Milovancevic, M, Perkins, DO, Pietilainen, O, Pimm, J, Pocklington, AJ, Powell, J, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Schall, U, Schubert, CR, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, JM, Sim, K, Slominsky, P, Smoller, JW, So, H-C, Spencer, CCA, Stahl, EA, Stefansson, H, Steinberg, S, Stogmann, E, Straub, RE, Strengman, E, Strohmaier, J, Stroup, TS, Subramaniam, M, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Soderman, E, Thirumalai, S, Toncheva, D, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wong, EHM, Wormley, BK, Xi, HS, Zai, CC, Zheng, X, Zimprich, F, Wray, NR, Stefansson, K, Visscher, PM, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Bramon, E, Buxbaum, JD, Borglum, AD, Cichon, S, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jonsson, EG, Kendler, KS, Kirov, G, Knight, J, Lencz, T, Levinson, DF, Li, QS, Liu, J, Malhotra, AK, McCarroll, SA, McQuillin, A, Moran, JL, Mortensen, PB, Mowry, BJ, Noethen, MM, Ophoff, RA, Owen, MJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, D, Rietschel, M, Riley, BP, Rujescu, D, Sham, PC, Sklar, P, St Clair, D, Weinberger, DR, Wendland, JR, Werge, T, Daly, MJ, Sullivan, PF, O'Donovan, MC, Ripke, S, Neale, BM, Corvin, A, Walters, JTR, Farh, K-H, Holmans, PA, Lee, P, Bulik-Sullivan, B, Collier, DA, Huang, H, Pers, TH, Agartz, I, Agerbo, E, Albus, M, Alexander, M, Amin, F, Bacanu, SA, Begemann, M, Belliveau, RA, Bene, J, Bergen, SE, Bevilacqua, E, Bigdeli, TB, Black, DW, Bruggeman, R, Buccola, NG, Buckner, RL, Byerley, W, Cahn, W, Cai, G, Campion, D, Cantor, RM, Carr, VJ, Carrera, N, Catts, SV, Chambert, KD, Chan, RCK, Chen, RYL, Chen, EYH, Cheng, W, Cheung, EFC, Chong, SA, Cloninger, CR, Cohen, D, Cohen, N, Cormican, P, Craddock, N, Crowley, JJ, Curtis, D, Davidson, M, Davis, KL, Degenhardt, F, Del Favero, J, Demontis, D, Dikeos, D, Dinan, T, Djurovic, S, Donohoe, G, Drapeau, E, Duan, J, Dudbridge, F, Durmishi, N, Eichhammer, P, Eriksson, J, Escott-Price, V, Essioux, L, Fanous, AH, Farrell, MS, Frank, J, Franke, L, Freedman, R, Freimer, NB, Friedl, M, Friedman, JI, Fromer, M, Genovese, G, Georgieva, L, Giegling, I, Giusti-Rodriguez, P, Godard, S, Goldstein, JI, Golimbet, V, Gopal, S, Gratten, J, de Haan, L, Hammer, C, Hamshere, ML, Hansen, M, Hansen, T, Haroutunian, V, Hartmann, AM, Henskens, FA, Herms, S, Hirschhorn, JN, Hoffmann, P, Hofman, A, Hollegaard, MV, Hougaard, DM, Ikeda, M, Joa, I, Julia, A, Kahn, RS, Kalaydjieva, L, Karachanak-Yankova, S, Karjalainen, J, Kavanagh, D, Keller, MC, Kennedy, JL, Khrunin, A, Kim, Y, Klovins, J, Knowles, JA, Konte, B, Kucinskas, V, Kucinskiene, ZA, Kuzelova-Ptackova, H, Kahler, AK, Laurent, C, Keong, JLC, Lee, SH, Legge, SE, Lerer, B, Li, M, Li, T, Liang, K-Y, Lieberman, J, Limborska, S, Loughland, CM, Lubinski, J, Lonnqvist, J, Macek, M, Magnusson, PKE, Maher, BS, Maier, W, Mallet, J, Marsal, S, Mattheisen, M, Mattingsdal, M, McCarley, RW, McDonald, C, McIntosh, AM, Meier, S, Meijer, CJ, Melegh, B, Melle, I, Mesholam-Gately, RI, Metspalu, A, Michie, PT, Milani, L, Milanova, V, Mokrab, Y, Morris, DW, Mors, O, Murphy, KC, Murray, RM, Myin-Germeys, I, Mueller-Myhsok, B, Nelis, M, Nenadic, I, Nertney, DA, Nestadt, G, Nicodemus, KK, Nikitina-Zake, L, Nisenbaum, L, Nordin, A, O'Callaghan, E, O'Dushlaine, C, O'Neill, FA, Oh, S-Y, Olincy, A, Olsen, L, Van Os, J, Pantelis, C, Papadimitriou, GN, Papiol, S, Parkhomenko, E, Pato, MT, Paunio, T, Pejovic-Milovancevic, M, Perkins, DO, Pietilainen, O, Pimm, J, Pocklington, AJ, Powell, J, Price, A, Pulver, AE, Purcell, SM, Quested, D, Rasmussen, HB, Reichenberg, A, Reimers, MA, Richards, AL, Roffman, JL, Roussos, P, Ruderfer, DM, Salomaa, V, Sanders, AR, Schall, U, Schubert, CR, Schulze, TG, Schwab, SG, Scolnick, EM, Scott, RJ, Seidman, LJ, Shi, J, Sigurdsson, E, Silagadze, T, Silverman, JM, Sim, K, Slominsky, P, Smoller, JW, So, H-C, Spencer, CCA, Stahl, EA, Stefansson, H, Steinberg, S, Stogmann, E, Straub, RE, Strengman, E, Strohmaier, J, Stroup, TS, Subramaniam, M, Suvisaari, J, Svrakic, DM, Szatkiewicz, JP, Soderman, E, Thirumalai, S, Toncheva, D, Tosato, S, Veijola, J, Waddington, J, Walsh, D, Wang, D, Wang, Q, Webb, BT, Weiser, M, Wildenauer, DB, Williams, NM, Williams, S, Witt, SH, Wolen, AR, Wong, EHM, Wormley, BK, Xi, HS, Zai, CC, Zheng, X, Zimprich, F, Wray, NR, Stefansson, K, Visscher, PM, Adolfsson, R, Andreassen, OA, Blackwood, DHR, Bramon, E, Buxbaum, JD, Borglum, AD, Cichon, S, Darvasi, A, Domenici, E, Ehrenreich, H, Esko, T, Gejman, PV, Gill, M, Gurling, H, Hultman, CM, Iwata, N, Jablensky, AV, Jonsson, EG, Kendler, KS, Kirov, G, Knight, J, Lencz, T, Levinson, DF, Li, QS, Liu, J, Malhotra, AK, McCarroll, SA, McQuillin, A, Moran, JL, Mortensen, PB, Mowry, BJ, Noethen, MM, Ophoff, RA, Owen, MJ, Palotie, A, Pato, CN, Petryshen, TL, Posthuma, D, Rietschel, M, Riley, BP, Rujescu, D, Sham, PC, Sklar, P, St Clair, D, Weinberger, DR, Wendland, JR, Werge, T, Daly, MJ, Sullivan, PF, and O'Donovan, MC
Abstract: Schizophrenia is a highly heritable disorder. Genetic risk is conferred by a large number of alleles, including common alleles of small effect that might be detected by genome-wide association studies. Here we report a multi-stage schizophrenia genome-wide association study of up to 36,989 cases and 113,075 controls. We identify 128 independent associations spanning 108 conservatively defined loci that meet genome-wide significance, 83 of which have not been previously reported. Associations were enriched among genes expressed in brain, providing biological plausibility for the findings. Many findings have the potential to provide entirely new insights into aetiology, but associations at DRD2 and several genes involved in glutamatergic neurotransmission highlight molecules of known and potential therapeutic relevance to schizophrenia, and are consistent with leading pathophysiological hypotheses. Independent of genes expressed in brain, associations were enriched among genes expressed in tissues that have important roles in immunity, providing support for the speculated link between the immune system and schizophrenia.
Published: 2014

23. Randomised Placebo-Controlled Trial Of Primaquine For Prophylaxis Of Falciparum And Vivax Malaria

Author: Fryauff, Dj, Baird, K., Baird, Jk, Basri, H., Sumawinata, I., Wignall, S., Purnomo, Richie, Tl, Church, Cj, Richards, Al, Mouzin, E., Ohrt, Ck, Subianto, B., Sandjaja, B., and Hoffman, S.
Subjects: parasitic diseases
Abstract: Drug resistance has made malaria prevention difficult and the new agents are too expensive for widespread use. Primaquine, an established drug for treatment, is potentially useful for prevention. Malaria prophylaxis with primaquine was evaluated in Irian Jaya during one year in Javanese men who were not deficient in glucose-6-phosphate dehydrogenase (G-6-PD). 126 volunteers were randomised to receive 0.5 mg/kg primaquine base or placebo daily (double-blinded), or 300 mg chloroquine base weekly (open). The protective efficacy of primaquine relative to placebo was 94.5% (95% confidence interval 57-99) for Plasmodium falciparum and 90.4% (95% CI 58-98) for P vivax. Attack rates for either parasite did not differ significantly between the chloroquine and placebo groups. Incidence density of physical complaints not associated with parasitaemia was low (17-18 complaints/person-year) and was about the same in all groups except for cough, which was increased in the primaquine group. Complete blood counts were normal and no evidence of hepatic or renal dysfunction was found with primaquine. However, at 50 weeks the primaquine group had a mean methaemoglobin of 5.8% (range 1.4-13%), which declined by half within 7 days of ending prophylaxis. When used daily for one year by men with normal G-6-PD activity, primaquine was well tolerated and effective for prevention of malaria.
Published: 1995
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24. Endemic scrub typhus-like illness, Chile.

Author: Balcells ME, Rabagliati R, García P, Poggi H, Oddó D, Concha M, Abarca K, Jiang J, Kelly DJ, Richards AL, Fuerst PA, Balcells, M Elvira, Rabagliati, Ricardo, García, Patricia, Poggi, Helena, Oddó, David, Concha, Marcela, Abarca, Katia, Jiang, Ju, and Kelly, Daryl J
Abstract: We report a case of scrub typhus in a 54-year-old man who was bitten by several terrestrial leeches during a trip to Chiloé Island in southern Chile in 2006. A molecular sample, identified as related to Orientia tsutsugamushi based on the sequence of the16S rRNA gene, was obtained from a biopsy specimen of the eschar on the patient's leg. Serologic analysis showed immunoglobulin G conversion against O. tsutsugamushi whole cell antigen. This case and its associated molecular analyses suggest that an Orientia-like agent is present in the Western Hemisphere that can produce scrub typhus-like illness. The molecular analysis suggests that the infectious agent is closely related, although not identical, to members of the Orientia sp. from Asia. [ABSTRACT FROM AUTHOR]
Published: 2011
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25. Human Infection with Rickettsia felis, Kenya.

Author: Richards AL, Jiang J, Omulo S, Dare R, Abdirahman K, Ali A, Sharif SK, Feikin DR, Breiman RF, Njenga MK, Richards, Allen L, Jiang, Ju, Omulo, Sylvia, Dare, Ryan, Abdirahman, Khalif, Ali, Abdile, Sharif, Shanaaz K, Feikin, Daniel R, Breiman, Robert F, and Njenga, M Kariuki
Abstract: To determine the cause of acute febrile illnesses other than malaria in the North Eastern Province, Kenya, we investigated rickettsial infection among patients from Garissa Provincial Hospital for 23 months during 2006-2008. Nucleic acid preparations of serum from 6 (3.7%) of 163 patients were positive for rickettsial DNA as determined by a genus-specific quantitative real-time PCR and were subsequently confirmed by molecular sequencing to be positive for Rickettsia felis. The 6 febrile patients' symptoms included headache; nausea; and muscle, back, and joint pain. None of the patients had a skin rash. [ABSTRACT FROM AUTHOR]
Published: 2010
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26. Converging evidence for triple word form theory in children with dyslexia.

Author: Richards TL, Aylward EH, Field KM, Grimme AC, Raskind W, Richards AL, Nagy W, Eckert M, Leonard C, Abbott RD, and Berninger VW
Abstract: This article has 3 parts. The 1st part provides an overview of the family genetics, brain imaging, and treatment research in the University of Washington Multidisciplinary Learning Disabilities Center (UWLDC) over the past decade that points to a probable genetic basis for the unusual difficulty that individuals with dyslexia encounter in learning to read and spell. Phenotyping studies have found evidence that phonological, orthographic, and morphological word forms and their parts may contribute uniquely to this difficulty. At the same time, reviews of treatment studies in the UWLDC (which focused on children in Grades 4 to 6) and other research centers provide evidence for the plasticity of the brain in individuals with dyslexia. The 2nd part reports 4 sets of results that extend previously published findings based on group analyses to those based on analyses of individual brains and that support triple word form awareness and mapping theory: (a) distinct brain signatures for the phonological, morphological, and orthographic word forms; (b) crossover effects between phonological and morphological treatments and functional magentic resonance imaging (fMRI) tasks in response to instruction, suggestive of cross-word form computational and mapping processes; (c) crossover effects between behavioral measures of phonology or morphology and changes in fMRI activation following treatment; and (d) change in the relationship between structural MRI and functional magnetic resonance spectroscopy (fMRS) lactate activation in right and left inferior frontal gyri following treatment emphasizing the phonological, morphological, and orthographic word forms. In the 3rd part we discuss the next steps in this programmatic research to move beyond word form alone. [ABSTRACT FROM AUTHOR]
Published: 2006
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27. Instructional treatment associated with changes in brain activation in children with dyslexia.

Author: Aylward EH, Richards TL, Berninger VW, Nagy WE, Field KM, Grimme AC, Richards AL, Thomson JB, Cramer SC, Aylward, E H, Richards, T L, Berninger, V W, Nagy, W E, Field, K M, Grimme, A C, Richards, A L, Thomson, J B, and Cramer, S C
Published: 2003
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28. AFT: a new monetary problem

Author: Richards, Al
Subjects: United States. Federal Reserve Board -- Economic policy, Banking industry -- Innovations, Electronic funds transfer systems -- Economic aspects, Monetary policy -- United States, Business, Business, general
Published: 1978

29. Sprinting for creative economy growth – a case study of a business planning and rapid prototyping toolkit for the Brazilian creative economy sector

Author: Tomlins Richard, Cuthill Helen, Richards Alan, Sukumar Arun, and Malynka Oksana
Subjects: Environmental sciences, GE1-350
Abstract: This article reflects on the development of a creative economy training product and toolkit developed by Coventry University with SEBRAE (the Brasilian Micro and Small Business Support Service) and funded by British Council. It was devised following two weeks creative economy scoping visits in autumn 2017 in Brasil. The scoping visits identified the need for a fun and “disruptive” business planning experience leading to rapid prototyping which would allow new creative economy ideas to be brought to market at low development cost – “Sprint”. A one day micro Sprint was tested in four locations in Brazil to excellent feedback in late 2017. The client subsequently requested a three day version of the methodology to invest more time in the cultural change of the creative entrepreneur and the development of an associated toolkit. However, this Sprint has subsequently also been rolled out in a super condensed 3 hour version piloting in 2019 and 2020 in Ukraine through British Council Creative Spark programmes. The toolkit offers skills and techniques to train creative entrepreneurs and their mentors in enabling the growth of the creative economy in their communities. This paper predominantly focuses on the implementation of the client commissioned three day Sprint.
Published: 2020
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30. An open source data transfer tool kit for research data

Author: Bauer Daniela, Colling David, Fayer Simon, Martyniak Janusz, and Richards Alexander
Subjects: Physics, QC1-999
Abstract: We present the prototype of an open source data transfer tool kit. It provides an easy to use ‘drag-and-drop’ web interface for users to transfer files between institutions that do not have a grid infrastructure in place. The underlying technology leverages standard grid technologies. e.g. automatic generation of X.509 certificates, but remains completely hidden from the user.
Published: 2019
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31. The LZ UK Data Centre

Author: Bauer Daniela, Colling David, Fayer Simon, Korolkova Elena, Richards Alexander, and Vacheret Antonin
Subjects: Physics, QC1-999
Abstract: LUX-ZEPLIN (LZ) is a Dark Matter experiment based at the Sanford Underground Research Facility in South Dakota, USA. It is currently under construction and aims to start data taking in 2020. Its computing model stipulates two independent data centres, one in the USA and one in the UK. Both data centres will hold a complete copy of the experiment’s data and are expected to handle all aspects of data processing and user analysis. Here we discuss the set-up of the UK data centre within the context of the existing UK Grid infrastructure and show that a mature distributed computing system such as the Grid can be extended to serve as a central data centre for a reasonably large non-LHC experiment.
Published: 2019
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32. The ectonucleotidase CD39 identifies tumor-reactive CD8+ T cells predictive of immune checkpoint blockade efficacy in human lung cancer

Author: Chow, A, primary, Uddin, FZ, additional, Liu, M, additional, Dobrin, A, additional, Nabet, BY, additional, Mangarin, L, additional, Lavin, Y, additional, Rizvi, H, additional, Tischfield, S, additional, Quintanal-Villalonga, A, additional, Chan, JM, additional, Shah, N, additional, Allaj, V, additional, Manoj, P, additional, Mattar, M, additional, Meneses, M, additional, Landau, R, additional, Ward, M, additional, Kulick, A, additional, Kwong, C, additional, Wierzbicki, M, additional, Yavner, J, additional, Egger, J, additional, Chavan, SS, additional, Farillas, A, additional, Holland, A, additional, Sridhar, H, additional, Ciampricotti, M, additional, Hirschhorn, D, additional, Guan, X, additional, Richards, AL, additional, Heller, G, additional, Mansilla-Soto, J, additional, Sadelain, M, additional, Klebanoff, CA, additional, Hellmann, MD, additional, Sen, T, additional, de Stanchina, E, additional, Wolchok, JD, additional, Merghoub, T, additional, and Rudin, CM, additional
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33. Finishing genomes with limited resources: lessons from an ensemble of microbial genomes

Author: Bishop-Lilly Kimberly A, Richards Allen, Ge Hong, Di Bonaventura MariaPia, Cook Christopher, Nagarajan Niranjan, DeSalle Robert, Read Timothy D, and Pop Mihai
Subjects: Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract: Abstract While new sequencing technologies have ushered in an era where microbial genomes can be easily sequenced, the goal of routinely producing high-quality draft and finished genomes in a cost-effective fashion has still remained elusive. Due to shorter read lengths and limitations in library construction protocols, shotgun sequencing and assembly based on these technologies often results in fragmented assemblies. Correspondingly, while draft assemblies can be obtained in days, finishing can take many months and hence the time and effort can only be justified for high-priority genomes and in large sequencing centers. In this work, we revisit this issue in light of our own experience in producing finished and nearly-finished genomes for a range of microbial species in a small-lab setting. These genomes were finished with surprisingly little investments in terms of time, computational effort and lab work, suggesting that the increased access to sequencing might also eventually lead to a greater proportion of finished genomes from small labs and genomics cores.
Published: 2010
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34. A comparison of four clustering methods for brain expression microarray data

Author: Owen Michael J, O'Donovan Michael C, Holmans Peter, Richards Alexander L, and Jones Lesley
Subjects: Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5
Abstract: Abstract Background DNA microarrays, which determine the expression levels of tens of thousands of genes from a sample, are an important research tool. However, the volume of data they produce can be an obstacle to interpretation of the results. Clustering the genes on the basis of similarity of their expression profiles can simplify the data, and potentially provides an important source of biological inference, but these methods have not been tested systematically on datasets from complex human tissues. In this paper, four clustering methods, CRC, k-means, ISA and memISA, are used upon three brain expression datasets. The results are compared on speed, gene coverage and GO enrichment. The effects of combining the clusters produced by each method are also assessed. Results k-means outperforms the other methods, with 100% gene coverage and GO enrichments only slightly exceeded by memISA and ISA. Those two methods produce greater GO enrichments on the datasets used, but at the cost of much lower gene coverage, fewer clusters produced, and speed. The clusters they find are largely different to those produced by k-means. Combining clusters produced by k-means and memISA or ISA leads to increased GO enrichment and number of clusters produced (compared to k-means alone), without negatively impacting gene coverage. memISA can also find potentially disease-related clusters. In two independent dorsolateral prefrontal cortex datasets, it finds three overlapping clusters that are either enriched for genes associated with schizophrenia, genes differentially expressed in schizophrenia, or both. Two of these clusters are enriched for genes of the MAP kinase pathway, suggesting a possible role for this pathway in the aetiology of schizophrenia. Conclusion Considered alone, k-means clustering is the most effective of the four methods on typical microarray brain expression datasets. However, memISA and ISA can add extra high-quality clusters to the set produced by k-means, so combining these three methods is the method of choice.
Published: 2008
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35. Sore Tow.

Author: Richards, Al
Subjects: TOWING, LETTERS to the editor
Abstract: Presents a letter to the editor regarding the author's use of his John Deere riding mower.
Published: 2004

36. Serological surveillance of scrub typhus, murine typhus, and leptospirosis in small mammals captured at Twin Bridges Training Area, Gyeonggi Province, Republic of Korea, 2005-2007.

Author: Sames WJ, Klein TA, Kim HC, Gu SH, Kang HJ, Shim SH, Ha SJ, Chong ST, Lee IY, Richards AL, Yi SH, Song JW, Sames, William J, Klein, Terry A, Kim, Heung-Chul, Gu, Se Hun, Kang, Hae-Ji, Shim, So-Hee, Ha, Si-Jung, and Chong, Sung-Tae
Abstract: Soldiers from the Republic of Korea and the United States conduct armistice military operations at Twin Bridges Training Area (TBTA) located near the demilitarized zone (DMZ) and are exposed to zoonotic disease pathogens that small mammals and their potentially disease-carrying ectoparasites transmit. TBTA is a 36 km2 rural training site with small villages and various forms of agriculture along its boundary. At TBTA, rodents, insectivores, and their ectoparasites are commonly found in association with unmanaged habitats of various densities of tall grasses, herbaceous plants, shrubs, briars, and crawling vegetation. Rodents and insectivores were collected during the winter (November-December 2005 and December 2006) and early spring (March 2007), and serologically tested for the presence of scrub typhus, murine typhus, and leptospirosis antibodies. Of the six species of small mammals collected, Apodemus agrarius, the common striped field mouse and known reservoir of scrub typhus, was the most frequently collected (96.1%), followed by Crocidura lasiura (2.5%), Micromys minutus (0.5%), Myodes regulus (0.5%), Mus musculus (0.3%), and Rattus rattus (0.1%). A. agrarius (56.1%), M. musculus (66.7%), M. minutus (25%), and R. rattus (100%) were positive for scrub typhus antibodies. Only A. agrarius (14.7%) and C. lasiura (4.5%) were positive for murine typhus antibodies, whereas only A. agrarius (1.5%) was seropositive for leptospirosis. Seroprevalence rates of scrub typhus and murine typhus based on weight and sex of A. agrarius are presented. [ABSTRACT FROM AUTHOR]
Published: 2010

37. Clinical benefit with tebentafusp in a patient with GNAQ mutant metastatic blue nevus-associated melanoma.

Author: Kudelka MR, Richards AL, Friedlander P, Wolchok JD, Moy AP, and Shoushtari AN
Subjects: Humans, Skin Neoplasms genetics, Skin Neoplasms drug therapy, Skin Neoplasms pathology, Male, Treatment Outcome, Middle Aged, GTP-Binding Protein alpha Subunits genetics, Female, Nevus, Blue genetics, Melanoma genetics, Melanoma drug therapy, Melanoma pathology, GTP-Binding Protein alpha Subunits, Gq-G11 genetics, Mutation
Abstract: Melanoma arising in association with a blue nevus (BN) is rare but has molecular similarities to uveal melanoma (UM), including GNAQ/11 mutations. Tebentafusp was recently approved for UM based on improved overall survival in a phase 3 study. We hypothesized that tebentafusp may be active in BN-associated melanoma. Here, we present a case of metastatic BN-associated melanoma with rapid response and ~1 year of disease control on tebentafusp. We also explore molecular and histological features of secondary resistance. Our case highlights that PD-1-resistant melanomas should be screened for GNAQ/11 mutations, as tebentafusp may be a treatment option in this extremely rare disease., Competing Interests: Competing interests: ANS reports grants and personal fees from Bristol-Myers Squibb, Immunocore, Novartis, and Castle Biosciences, and institutional grants from Bristol-Myers Squibb, Immunocore, Novartis, Targovax, Pfizer, Mural Oncology, Checkmate Pharmaceuticals, Foghorn Therapeutics, Linnaeus Therapeutics, Prelude Therapeutics, Iovance Biotherapeutics, Obsidian Therapeutics. PF reports equity in GE Healthcare, Iovance, Gilead. JDW is a consultant for Apricity, Ascentage Pharma, Bicara Therapeutics, Daiichi Sankyo, Dragonfly, Imvaq, Larkspur, Takeda, Tizona, Trishula Therapeutics, Immunocore (on their Data Safety Board), Scancell. JDW received grant/research support from Bristol Myers Squibb, Enterome. JDW has equity in Apricity, Arsenal IO/CellCarta, Ascentage, Imvaq, Linneaus, Larkspur, Georgiamune, Maverick, Tizona Therapeutics, Xenimmune. JDW is an inventor on the following patents: Xenogeneic DNA Vaccines, Newcastle Disease viruses for Cancer Therapy, Myeloid-derived suppressor cell (MDSC) assay, Prediction of Responsiveness to Treatment with Immunomodulatory Therapeutics and Method of Monitoring Abscopal Effects During Such Treatment, Anti-PD1 Antibody, Anti-CTLA4 antibodies, Anti-GITR antibodies and methods of use thereof. The remaining authors declare no competing interests., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
Published: 2024
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38. New Processes for Ionizing Nonvolatile Compounds in Mass Spectrometry: The Road of Discovery to Current State-of-the-Art.

Author: Trimpin S, Yenchick FS, Lee C, Hoang K, Pophristic M, Karki S, Marshall DD, Lu IC, Lutomski CA, El-Baba TJ, Wang B, Pagnotti VS, Meher AK, Chakrabarty S, Imperial LF, Madarshahian S, Richards AL, Lietz CB, Moreno-Pedraza A, Leach SM, Gibson SC, Elia EA, Thawoos SM, Woodall DW, Jarois DR, Davis ETJ, Liao G, Muthunayake NS, Redding MJ, Reynolds CA, Anthony TM, Vithanarachchi SM, DeMent P, Adewale AO, Yan L, Wager-Miller J, Ahn YH, Sanderson TH, Przyklenk K, Greenberg ML, Suits AG, Allen MJ, Narayan SB, Caruso JA, Stemmer PM, Nguyen HM, Weidner SM, Rackers KJ, Djuric A, Shulaev V, Hendrickson TL, Chow CS, Pflum MKH, Grayson SM, Lobodin VV, Guo Z, Ni CK, Walker JM, Mackie K, Inutan ED, and McEwen CN
Abstract: This Perspective covers discovery and mechanistic aspects as well as initial applications of novel ionization processes for use in mass spectrometry that guided us in a series of subsequent discoveries, instrument developments, and commercialization. Vacuum matrix-assisted ionization on an intermediate pressure matrix-assisted laser desorption/ionization source without the use of a laser, high voltages, or any other added energy was simply unbelievable, at first. Individually and as a whole, the various discoveries and inventions started to paint, inter alia , an exciting new picture and outlook in mass spectrometry from which key developments grew that were at the time unimaginable, and continue to surprise us in its simplistic preeminence. We, and others, have demonstrated exceptional analytical utility. Our current research is focused on how best to understand, improve, and use these novel ionization processes through dedicated platforms and source developments. These ionization processes convert volatile and nonvolatile compounds from solid or liquid matrixes into gas-phase ions for analysis by mass spectrometry using, e.g. , mass-selected fragmentation and ion mobility spectrometry to provide accurate, and sometimes improved, mass and drift time resolution. The combination of research and discoveries demonstrated multiple advantages of the new ionization processes and established the basis of the successes that lead to the Biemann Medal and this Perspective. How the new ionization processes relate to traditional ionization is also presented, as well as how these technologies can be utilized in tandem through instrument modification and implementation to increase coverage of complex materials through complementary strengths.
Published: 2024
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39. Molecular detection of Rickettsia species in ectoparasites collected from two southern provinces of Cambodia.

Author: Prasetyo DB, Fiorenzano JM, Nop D, Noch N, Huot B, Mom S, Prum S, Chhe V, Dul S, Heang V, Prom S, Jiang J, Richards AL, Farris CM, and Hertz JC
Subjects: Animals, Cambodia epidemiology, Rickettsia Infections microbiology, Rickettsia Infections veterinary, Rickettsia Infections epidemiology, Siphonaptera microbiology, Ticks microbiology, Rickettsia isolation & purification, Rickettsia genetics, Rickettsia classification, Multilocus Sequence Typing
Abstract: Arthropod-borne rickettsioses comprise a wide variety of subtypes that are endemic in Cambodia, but there remains very little data on the geographic distribution of the pathogens or their vectors. Surveys were conducted in Koh Kong and Preah Sihanouk Provinces between September 2017 and June 2018 to collect ectoparasites from peridomestic animals and the environment using dragging and flagging methods. Collected ectoparasites were sorted and identified morphologically, then pooled by species, host, and location for molecular detection using Rickettsia genus- and species-specific qPCR and/or multilocus sequence typing (MLST) assays. A total of 14,254 ectoparasites were collected including seven new locality records. Rickettsia species were detected in 35.5% (174/505) of the pools screened representing 3,149 randomly selected ectoparasites from the total collected. Rickettsia asembonensis was detected in 89.6% (147/164) of Rickettsia-positive flea pools and 3.6% (6/164) of the flea pools were positive for both R. asembonensis and Rickettsia felis. Candidatus Rickettsia senegalensis from Ctenocephalides orientis fleas and Rickettsia sp. close to Rickettsia japonica and Rickettsia heilongjiangensis from Haemaphysalis ticks were identified by MLST. This appears to be the first report of these new ectoparasite records and rickettsial species in southern Cambodia, suggesting a potential health risk to military and civilians in this region., Competing Interests: The authors have declared that no competing interests exist., (Copyright: This is an open access article, free of all copyright, and may be freely reproduced, distributed, transmitted, modified, built upon, or otherwise used by anyone for any lawful purpose. The work is made available under the Creative Commons CC0 public domain dedication.)
Published: 2024
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40. A multicenter, randomized, non-comparative, phase II study of nivolumab ± ipilimumab for patients with metastatic sarcoma (Alliance A091401): expansion cohorts and correlative analyses.

Author: Seligson ND, Chen JL, Goodrich AC, Van Tine BA, Campbell JD, Richards AL, Antonescu CR, Liebner DA, Milhem MM, Streicher H, Tap WD, Schwartz GK, George S, and D'Angelo SP
Subjects: Humans, Male, Female, Middle Aged, Aged, Adult, Antineoplastic Combined Chemotherapy Protocols therapeutic use, Antineoplastic Combined Chemotherapy Protocols adverse effects, Aged, 80 and over, Neoplasm Metastasis, Nivolumab therapeutic use, Nivolumab adverse effects, Nivolumab pharmacology, Ipilimumab therapeutic use, Ipilimumab pharmacology, Sarcoma drug therapy
Abstract: Background: In this open-label, randomized, non-comparative, multicenter phase II study (Alliance A091401) we report on three expansion cohorts treated with nivolumab (N) with and without ipilimumab (N+I) and provide a multi-omic correlative analysis of actionable biomarkers., Methods: Patients were randomized (non-comparative) to receive either N or N+I. The primary endpoint was a 6-month confirmed response rate (CRR) defined by Response Evaluation Criteria in Solid Tumors version 1.1. Secondary endpoints included treatment-related adverse events (TRAEs), progression-free survival, and overall survival. Multi-omic correlative analyses were conducted using samples from both the primary and expansion cohorts., Results: A total of 66 patients were evaluated for the primary endpoint with disease including gastrointestinal stromal tumor (GIST, n=18), undifferentiated pleomorphic sarcoma (UPS, n=24), and dedifferentiated liposarcoma (DDLPS, n=24). Neither N nor N+I achieved a complete or partial response in the GIST expansion cohort. In DDLPS and UPS, the primary response endpoint of CRR was met with N+I (both 16.6%, 2/12) but not with N alone (both 8.3%, 1/12). In the GIST cohort, TRAE was higher with N+I treatment, halting enrollment as required per protocol. In a correlative analysis of patients for the expansion cohort and the original cohort (n=86), traditional biomarkers of immunotherapy response were not correlated with response in any histological subtype. Markers of genomic instability including the presence of gene fusions and increased subclonal mutations correlated with improved clinical outcomes., Conclusions: This expansion cohort reaffirms the outcomes of A091401. There remains a pressing need to determine the role of and predictive biomarkers for immunotherapy in sarcoma., Trial Registration Number: NCT02500797., Competing Interests: Competing interests: JLC: Foundation Medicine (personal fees), Tempus (employment); BVT: Daiichi Sankyo Inc (personal fees), Deciphera Pharmaceuticals (personal fees), Advenchen (personal fees), Putnam (personal fees), Boxer Capital LLC (personal fees), Acuta Capital Partners, LLC (personal fees), Aadi (personal fees), Race Oncology (personal fees), Hinge Bio, Inc (personal fees), Kronos Bio, Inc, (personal fees) Sonata Therapeutics, Inc. (personal fees), Total Health Conference (personal fees), Adaptimmune (other support), Boehringer Ingelheim (consulting/licensing), Accuronix Therapeutics (patent), Polaris (non-paid member of Scientific/Safety Board); DAL: AADI Bioscience (consulting), MatchTx, LLC (patents); all other authors declare no competing interests., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
Published: 2024
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41. The Mac1 ADP-ribosylhydrolase is a Therapeutic Target for SARS-CoV-2.

Author: Suryawanshi RK, Jaishankar P, Correy GJ, Rachman MM, O'Leary PC, Taha TY, Zapatero-Belinchón FJ, McCavittMalvido M, Doruk YU, Stevens MGV, Diolaiti ME, Jogalekar MP, Richards AL, Montano M, Rosecrans J, Matthay M, Togo T, Gonciarz RL, Gopalkrishnan S, Neitz RJ, Krogan NJ, Swaney DL, Shoichet BK, Ott M, Renslo AR, Ashworth A, and Fraser JS
Abstract: SARS-CoV-2 continues to pose a threat to public health. Current therapeutics remain limited to direct acting antivirals that lack distinct mechanisms of action and are already showing signs of viral resistance. The virus encodes an ADP-ribosylhydrolase macrodomain (Mac1) that plays an important role in the coronaviral lifecycle by suppressing host innate immune responses. Genetic inactivation of Mac1 abrogates viral replication in vivo by potentiating host innate immune responses. However, it is unknown whether this can be achieved by pharmacologic inhibition and can therefore be exploited therapeutically. Here we report a potent and selective lead small molecule, AVI-4206, that is effective in an in vivo model of SARS-CoV-2 infection. Cellular models indicate that AVI-4206 has high target engagement and can weakly inhibit viral replication in a gamma interferon- and Mac1 catalytic activity-dependent manner; a stronger antiviral effect for AVI-4206 is observed in human airway organoids. In an animal model of severe SARS-CoV-2 infection, AVI-4206 reduces viral replication, potentiates innate immune responses, and leads to a survival benefit. Our results provide pharmacological proof of concept that Mac1 is a valid therapeutic target via a novel immune-restoring mechanism that could potentially synergize with existing therapies targeting distinct, essential aspects of the coronaviral life cycle. This approach could be more widely used to target other viral macrodomains to develop antiviral therapeutics beyond COVID-19., Competing Interests: A.R.R, P.J., R.L.G., T.T., M.R., J.S.F., G.J.C., B.K.S., R.J.N, A.A., M.D., P.C.O., Y.D.P., N.K., M.O., T.Y.T., R.S., F.Z.B., and M.M. are listed as inventors on a patent application describing small molecule macrodomain inhibitors, which includes compounds described herein. T.Y.T and M.O. are listed as inventors on a patent application filed by the Gladstone Institutes that covers the use of pGLUE to generate SARS-CoV-2 infectious clones and replicons. The Krogan laboratory has received research support from Vir Biotechnology, F. Hoffmann-La Roche and Rezo Therapeutics. N.J.K. has financially compensated consulting agreements with Maze Therapeutics and Interline Therapeutics. He is on the Board of Directors and is President of Rezo Therapeutics and is a shareholder in Tenaya Therapeutics, Maze Therapeutics, Rezo Therapeutics, GEn1E Lifesciences and Interline Therapeutics. B.K.S is co-founder of BlueDolphin LLC, Epiodyne Inc, and Deep Apple Therapeutics, Inc., and serves on the SRB of Genentech, the SAB of Schrodinger LLC, and the SAB of Vilya Therapeutics. M.O. is a cofounder of Directbio and board member of InVisishield. A.R.R. is a co-founder of TheRas, Elgia Therapeutics, and Tatara Therapeutics, and receives sponsored research support from Merck, Sharp and Dohme. A.A. is a co-founder of Tango Therapeutics, Azkarra Therapeutics and Kytarro; a member of the board of Cytomx, Ovibio Corporation, Cambridge Science Corporation; a member of the scientific advisory board of Genentech, GLAdiator, Circle, Bluestar/Clearnote Health, Earli, Ambagon, Phoenix Molecular Designs, Yingli/280Bio, Trial Library, ORIC and HAP10; a consultant for ProLynx, Next RNA and Novartis; receives research support from SPARC; and holds patents on the use of PARP inhibitors held jointly with AstraZeneca from which he has benefited financially (and may do so in the future). J.S.F. is a consultant to, shareholder of, and receives sponsored research support from Relay Therapeutics.
Published: 2024
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42. Socioeconomic factors associated with uptake and satisfaction with a post-hospitalization meals benefit in Medicare Advantage.

Author: Richards AL, Vallejo J, Duan L, Dinsdale MP, Akiyama-Ciganek J, Arakelian A, Lee JS, Shen E, and Nguyen HQ
Subjects: Humans, Male, Female, Aged, United States, Cross-Sectional Studies, Aged, 80 and over, Patient Satisfaction statistics & numerical data, California, Hospitalization statistics & numerical data, Heart Failure therapy, Surveys and Questionnaires, Patient Discharge statistics & numerical data, Food Assistance statistics & numerical data, Food Insecurity, Socioeconomic Factors, Medicare Part C statistics & numerical data
Abstract: Background: Kaiser Permanente Southern California began offering a 4-week supplemental benefit of home-delivered meals to Medicare Advantage members after discharge from a hospitalization for heart failure and other medical conditions in 2021. The purpose of this study is to explore the associations between socioeconomic disadvantage and food insecurity with patient uptake of and satisfaction with the meals., Methods: Data for this cross-sectional study were drawn from survey and electronic medical record data for members referred for the meals benefit (n = 6169) and linked to a hospitalization encounter (n = 2254) between January and December 2021. Uptake was assessed using vendor records; measures of socioeconomic status included the neighborhood deprivation index (NDI) and prior receipt of medical financial assistance (MFA) from the health system. Patients were invited to complete an email or phone survey about their satisfaction with the meals and food insecurity. Multivariable log-binomial regression models were used to examine the association between socioeconomic disadvantage and food insecurity with meals uptake and satisfaction., Results: Sixty-two percent of patients referred for the benefit accepted the meals (mean age: 79 ± 9, 59% people of color). While there was no significant relationship between NDI and meals uptake (RR: 0.99, 95% CI: 0.92-1.07, p = 0.77), patients who received prior MFA were more likely to accept the meals (RR: 1.09, 95% CI: 1.02-1.16, p < 0.01). Sixty-nine percent of patients who completed the survey (23% response rate) reported that meals were very or extremely helpful. Patients with food insecurity (29% of survey respondents) were more likely to report that the meals were helpful for their recovery compared to food secure patients (RR: 1.21, 95% CI: 1.09-1.35, p < 0.01)., Conclusions: The home-delivered meals appeared to be particularly utilized by and helpful to patients with greater financial strain and/or food insecurity, suggesting that supplemental benefits could be more targeted toward addressing unmet needs of vulnerable adults., (© 2024 The American Geriatrics Society.)
Published: 2024
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43. Rickettsia asembonensis Isolated from Four Human Cases with Acute Undifferentiated Febrile Illness in Peru.

Author: Loyola S, Palacios-Salvatierra R, Cáceres-Rey O, and Richards AL
Abstract: Rickettsioses, often underreported, pose public health challenges. Rickettsia asembonensis is a potential emerging pathogen that was previously detected in humans, animals, and a variety of arthropods. While its pathogenicity in humans remains unclear, it poses a potential public health threat. Here, we present an extended epidemiological, diagnostic, and genetic analysis of the information provided in a preliminary report on the investigation of rickettsiae in Peru. In particular, we report the detection of R. asembonensis in blood specimens collected from four human patients with an acute undifferentiated fever of a seven- to nine-day duration, all of whom tested negative for other vector-borne pathogens. Additionally, we describe the replicative capacity of the R. asembonensis isolates in cell cultures.
Published: 2024
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44. Influence of recurrent assessments during data collection on caregivers and young children for an agricultural livelihood intervention in Kenya: a qualitative study.

Author: Richards AL, Hiepler AJ, Frongillo EA, Khan S, Holding P, Nanga K, Kammerer B, Otieno P, and Butler LM
Subjects: Humans, Kenya, Female, Male, Child, Preschool, Infant, Adult, Health Knowledge, Attitudes, Practice, Mental Health, Caregivers psychology, Qualitative Research, Agriculture
Abstract: Objectives: We sought to understand the influence of recurrent assessments on the behaviour of children and caregivers in a 2-year study of an agricultural livelihood intervention., Design: This study used qualitative exit interviews from caregivers in the control arm of a large, cluster-randomised control trial, Shamba Maisha., Setting: The study was conducted in Western Kenya and involved 12 health facilities between 2016 and 2019., Participants: Participants were 99 caregivers in the control arm who had a child that was 6-36 months in age at the start of the study., Interventions: Intervention participants within Shamba Maisha received an irrigation pump, farming lessons and a microloan. Control participants received no intervention but were offered the intervention after completing the 2-year study., Results: Despite receiving no formal benefits, control caregivers reported improved mental health and enhanced knowledge of their child's health compared with the beginning of the study and reported changes in the child's play and diet that they attributed to participation in study assessments. Caregivers in the control arm attributed their changed behaviour to recurrent questioning, instrumental support, interactions with study staff and increased health knowledge., Conclusions: Recurrent assessments altered participant behaviour, which may have made inference of the intervention's impact more difficult. In designing future, such studies with intervention and control arms, a trade-off between the gains in statistical power provided by recurrent visits and the avoidance of alterations in participants' behaviour that could affect responses to assessments must be considered when deciding on the number of visits for assessment., Trial Registration Numbers: NCT03170986; NCT02815579., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
Published: 2024
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45. Direct sub-atmospheric pressure ionization mass spectrometry: Evaporation/sublimation-driven ionization is amazing, fundamentally, and practically.

Author: Trimpin S, Inutan ED, Pagnotti VS, Karki S, Marshall DD, Hoang K, Wang B, Lietz CB, Richards AL, Yenchick FS, Lee C, Lu IC, Fenner M, Madarshahian S, Saylor S, Chubatyi ND, Zimmerman T, Moreno-Pedraza A, Wang T, Adeniji-Adele A, Meher AK, Madagedara H, Owczarzak Z, Musavi A, Hendrickson TL, Peacock PM, Tomsho JW, Larsen BS, Prokai L, Shulaev V, Pophristic M, and McEwen CN
Abstract: This paper covers direct sub-atmospheric pressure ionization mass spectrometry (MS). The discovery, applications, and mechanistic aspects of novel ionization processes for use in MS that are not based on the high-energy input from voltage, laser, and/or high temperature but on sublimation/evaporation within a region linking a higher to lower pressure and modulated by heat and collisions, are discussed, including how this new reality has guided a series of discoveries, instrument developments, and commercialization. A research focus, inter alia, is on how best to understand, improve, and use these novel ionization processes, which convert volatile and nonvolatile compounds from solids (sublimation) or liquids (evaporation) into gas-phase ions for analysis by MS providing reproducible, accurate, sensitive, and prompt results. Our perception on how these unprecedented versus traditional ionization processes/methods relate to each other, how they can be made to coexist on the same mass spectrometer, and an outlook on new and expanded applications (e.g., clinical, portable, fast, safe, and autonomous) is presented, and is based on ST's Opening lecture presentation at the Nordic Mass spectrometry Conference, Geilo, Norway, January 2023. Focus will be on matrix-assisted ionization (MAI) and solvent-assisted ionization (SAI) MS covering the period from 2010 to 2023; a potential paradigm shift in the making., (© 2024 John Wiley & Sons Ltd.)
Published: 2024
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46. Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors.

Author: Lin AL, Rudneva VA, Richards AL, Zhang Y, Woo HJ, Cohen M, Tisnado J, Majd N, Wardlaw SL, Page-Wilson G, Sengupta S, Chow F, Goichot B, Ozer BH, Dietrich J, Nachtigall L, Desai A, Alano T, Ogilive S, Solit DB, Bale TA, Rosenblum M, Donoghue MTA, Geer EB, and Tabar V
Subjects: Humans, Male, Female, Middle Aged, Adult, Aged, Retrospective Studies, Mutation genetics, Prospective Studies, Loss of Heterozygosity genetics, Pituitary Neoplasms genetics, Pituitary Neoplasms pathology, Neuroendocrine Tumors genetics, Neuroendocrine Tumors pathology, Neuroendocrine Tumors therapy
Abstract: Pituitary neuroendocrine tumors (PitNETs) exhibiting aggressive, treatment-refractory behavior are the rare subset that progress after surgery, conventional medical therapies, and an initial course of radiation and are characterized by unrelenting growth and/or metastatic dissemination. Two groups of patients with PitNETs were sequenced: a prospective group of patients (n = 66) who consented to sequencing prior to surgery and a retrospective group (n = 26) comprised of aggressive/higher risk PitNETs. A higher mutational burden and fraction of loss of heterozygosity (LOH) was found in the aggressive, treatment-refractory PitNETs compared to the benign tumors (p = 1.3 × 10 -10 and p = 8.5 × 10 -9 , respectively). Within the corticotroph lineage, a characteristic pattern of recurrent chromosomal LOH in 12 specific chromosomes was associated with treatment-refractoriness (occurring in 11 of 14 treatment-refractory versus 1 of 14 benign corticotroph PitNETs, p = 1.7 × 10 -4 ). Across the cohort, a higher fraction of LOH was identified in tumors with TP53 mutations (p = 3.3 × 10 -8 ). A machine learning approach identified loss of heterozygosity as the most predictive variable for aggressive, treatment-refractory behavior, outperforming the most common gene-level alteration, TP53, with an accuracy of 0.88 (95% CI: 0.70-0.96). Aggressive, treatment-refractory PitNETs are characterized by significant aneuploidy due to widespread chromosomal LOH, most prominently in the corticotroph tumors. This LOH predicts treatment-refractoriness with high accuracy and represents a novel biomarker for this poorly defined PitNET category., (© 2024. The Author(s).)
Published: 2024
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47. A proof of concept for a targeted enrichment approach to the simultaneous detection and characterization of rickettsial pathogens from clinical specimens.

Author: Paskey AC, Schully KL, Voegtly LJ, Arnold CE, Cer RZ, Frey KG, Blair PW, Clark DV, Ge H, Richards AL, Farris CM, and Bishop-Lilly KA
Abstract: Infection with either Rickettsia prowazekii or Orientia tsutsugamushi is common, yet diagnostic capabilities are limited due to the short window for positive identification. Until now, although targeted enrichment had been applied to increase sensitivity of sequencing-based detection for various microorganisms, it had not been applied to sequencing of R. prowazekii in clinical samples. Additionally, hybridization-based targeted enrichment strategies had only scarcely been applied to qPCR of any pathogens in clinical samples. Therefore, we tested a targeted enrichment technique as a proof of concept and found that it dramatically reduced the limits of detection of these organisms by both qPCR and high throughput sequencing. The enrichment methodology was first tested in contrived clinical samples with known spiked-in concentrations of R. prowazekii and O. tsutsugamushi DNA. This method was also evaluated using clinical samples, resulting in the simultaneous identification and characterization of O. tsutsugamushi directly from clinical specimens taken from sepsis patients. We demonstrated that the targeted enrichment technique is helpful by lowering the limit of detection, not only when applied to sequencing, but also when applied to qPCR, suggesting the technique could be applied more broadly to include other assays and/or microbes for which there are limited diagnostic or detection modalities., Competing Interests: AP and LV were employed by Leidos. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Paskey, Schully, Voegtly, Arnold, Cer, Frey, Blair, Clark, Ge, Richards, Farris and Bishop-Lilly.)
Published: 2024
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48. Clustering Schizophrenia Genes by Their Temporal Expression Patterns Aids Functional Interpretation.

Author: van der Meer D, Cheng W, Rokicki J, Fernandez-Cabello S, Shadrin A, Smeland OB, Ehrhart F, Gülöksüz S, Pries LK, Lin B, Rutten BPF, van Os J, O'Donovan M, Richards AL, Steen NE, Djurovic S, Westlye LT, Andreassen OA, and Kaufmann T
Subjects: Humans, Adult, Brain, Genetic Risk Score, Multifactorial Inheritance, Cluster Analysis, Genetic Predisposition to Disease, Schizophrenia genetics
Abstract: Background: Schizophrenia is a highly heritable brain disorder with a typical symptom onset in early adulthood. The 2-hit hypothesis posits that schizophrenia results from differential early neurodevelopment, predisposing an individual, followed by a disruption of later brain maturational processes that trigger the onset of symptoms., Study Design: We applied hierarchical clustering to transcription levels of 345 genes previously linked to schizophrenia, derived from cortical tissue samples from 56 donors across the lifespan. We subsequently calculated clustered-specific polygenic risk scores for 743 individuals with schizophrenia and 743 sex- and age-matched healthy controls., Study Results: Clustering revealed a set of 183 genes that was significantly upregulated prenatally and downregulated postnatally and 162 genes that showed the opposite pattern. The prenatally upregulated set of genes was functionally annotated to fundamental cell cycle processes, while the postnatally upregulated set was associated with the immune system and neuronal communication. We found an interaction between the 2 scores; higher prenatal polygenic risk showed a stronger association with schizophrenia diagnosis at higher levels of postnatal polygenic risk. Importantly, this finding was replicated in an independent clinical cohort of 3233 individuals., Conclusions: We provide genetics-based evidence that schizophrenia is shaped by disruptions of separable biological processes acting at distinct phases of neurodevelopment. The modeling of genetic risk factors that moderate each other's effect, informed by the timing of their expression, will aid in a better understanding of the development of schizophrenia., (© The Author(s) 2023. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center.)
Published: 2024
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49. Therapy-Induced Senescence Contributes to the Efficacy of Abemaciclib in Patients with Dedifferentiated Liposarcoma.

Author: Gleason CE, Dickson MA, Klein Dooley ME, Antonescu CR, Gularte-Mérida R, Benitez M, Delgado JI, Kataru RP, Tan MWY, Bradic M, Adamson TE, Seier K, Richards AL, Palafox M, Chan E, D'Angelo SP, Gounder MM, Keohan ML, Kelly CM, Chi P, Movva S, Landa J, Crago AM, Donoghue MTA, Qin LX, Serra V, Turkekul M, Barlas A, Firester DM, Manova-Todorova K, Mehrara BJ, Kovatcheva M, Tan NS, Singer S, Tap WD, and Koff A
Subjects: Humans, Benzimidazoles pharmacology, Benzimidazoles therapeutic use, Cellular Senescence, Cyclin-Dependent Kinase 4, Tumor Microenvironment, Aminopyridines pharmacology, Aminopyridines therapeutic use, Liposarcoma drug therapy, Liposarcoma pathology
Abstract: Purpose: We conducted research on CDK4/6 inhibitors (CDK4/6i) simultaneously in the preclinical and clinical spaces to gain a deeper understanding of how senescence influences tumor growth in humans., Patients and Methods: We coordinated a first-in-kind phase II clinical trial of the CDK4/6i abemaciclib for patients with progressive dedifferentiated liposarcoma (DDLS) with cellular studies interrogating the molecular basis of geroconversion., Results: Thirty patients with progressing DDLS enrolled and were treated with 200 mg of abemaciclib twice daily. The median progression-free survival was 33 weeks at the time of the data lock, with 23 of 30 progression-free at 12 weeks (76.7%, two-sided 95% CI, 57.7%-90.1%). No new safety signals were identified. Concurrent preclinical work in liposarcoma cell lines identified ANGPTL4 as a necessary late regulator of geroconversion, the pathway from reversible cell-cycle exit to a stably arrested inflammation-provoking senescent cell. Using this insight, we were able to identify patients in which abemaciclib induced tumor cell senescence. Senescence correlated with increased leukocyte infiltration, primarily CD4-positive cells, within a month of therapy. However, those individuals with both senescence and increased TILs were also more likely to acquire resistance later in therapy. These suggest that combining senolytics with abemaciclib in a subset of patients may improve the duration of response., Conclusions: Abemaciclib was well tolerated and showed promising activity in DDLS. The discovery of ANGPTL4 as a late regulator of geroconversion helped to define how CDK4/6i-induced cellular senescence modulates the immune tumor microenvironment and contributes to both positive and negative clinical outcomes. See related commentary by Weiss et al., p. 649., (©2023 The Authors; Published by the American Association for Cancer Research.)
Published: 2024
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50. Convergent evolution of BRCA2 reversion mutations under therapeutic pressure by PARP inhibition and platinum chemotherapy.

Author: Walmsley CS, Jonsson P, Cheng ML, McBride S, Kaeser C, Vargas HA, Laudone V, Taylor BS, Kappagantula R, Baez P, Richards AL, Noronha AM, Perera D, Berger M, Solit DB, Iacobuzio-Donahue CA, Scher HI, Donoghue MTA, Abida W, and Schram AM
Abstract: Reversion mutations that restore wild-type function of the BRCA gene have been described as a key mechanism of resistance to Poly(ADP-ribose) polymerase (PARP) inhibitor therapy in BRCA-associated cancers. Here, we report a case of a patient with metastatic castration-resistant prostate cancer (mCRPC) with a germline BRCA2 mutation who developed acquired resistance to PARP inhibition. Extensive genomic interrogation of cell-free DNA (cfDNA) and tissue at baseline, post-progression, and postmortem revealed ten unique BRCA2 reversion mutations across ten sites. While several of the reversion mutations were private to a specific site, nine out of ten tumors contained at least one mutation, suggesting a powerful clonal selection for reversion mutations in the presence of therapeutic pressure by PARP inhibition. Variable cfDNA shed was seen across tumor sites, emphasizing a potential shortcoming of cfDNA monitoring for PARPi resistance. This report provides a genomic portrait of the temporal and spatial heterogeneity of prostate cancer under the selective pressure of a PARP inhibition and exposes limitations in the current strategies for detection of reversion mutations., (© 2024. The Author(s).)
Published: 2024
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