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532 results on '"Wilhelmsen, Kirk C."'

1. Projected $t$-SNE for batch correction

Author

Aliverti, Emanuele, Tilson, Jeff, Filer, Dayne, Babcock, Benjamin, Colaneri, Alejandro, Ocasio, Jennifer, Gershon, Timothy R., Wilhelmsen, Kirk C., and Dunson, David B.

Subjects
Statistics - Applications, Statistics - Methodology
Abstract

Biomedical research often produces high-dimensional data confounded by batch effects such as systematic experimental variations, different protocols and subject identifiers. Without proper correction, low-dimensional representation of high-dimensional data might encode and reproduce the same systematic variations observed in the original data, and compromise the interpretation of the results. In this article, we propose a novel procedure to remove batch effects from low-dimensional embeddings obtained with t-SNE dimensionality reduction. The proposed methods are based on linear algebra and constrained optimization, leading to efficient algorithms and fast computation in many high-dimensional settings. Results on artificial single-cell transcription profiling data show that the proposed procedure successfully removes multiple batch effects from t-SNE embeddings, while retaining fundamental information on cell types. When applied to single-cell gene expression data to investigate mouse medulloblastoma, the proposed method successfully removes batches related with mice identifiers and the date of the experiment, while preserving clusters of oligodendrocytes, astrocytes, and endothelial cells and microglia, which are expected to lie in the stroma within or adjacent to the tumors., Comment: 16 pages, 3 figures

Published
2019
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6. Genome-wide association study and meta-analysis identify loci associated with ventricular and supraventricular ectopy

Author

Napier, Melanie D, Franceschini, Nora, Gondalia, Rahul, Stewart, James D, Méndez-Giráldez, Raúl, Sitlani, Colleen M, Seyerle, Amanda A, Highland, Heather M, Li, Yun, Wilhelmsen, Kirk C, Yan, Song, Duan, Qing, Roach, Jeffrey, Yao, Jie, Guo, Xiuqing, Taylor, Kent D, Heckbert, Susan R, Rotter, Jerome I, North, Kari E, Reiner, Alexander P, Zhang, Zhu-Ming, Tinker, Lesley F, Liao, Duanping, Laurie, Cathy C, Gogarten, Stephanie M, Lin, Henry J, Brody, Jennifer A, Bartz, Traci M, Psaty, Bruce M, Sotoodehnia, Nona, Soliman, Elsayed Z, Avery, Christy L, and Whitsel, Eric A

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Aged, Atrial Premature Complexes, Bayes Theorem, Clinical Trials as Topic, Cohort Studies, Electrocardiography, Female, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Phenotype, Polymorphism, Single Nucleotide, Tachycardia, Supraventricular, Ventricular Premature Complexes
Abstract

The genetic basis of supraventricular and ventricular ectopy (SVE, VE) remains largely uncharacterized, despite established genetic mechanisms of arrhythmogenesis. To identify novel genetic variants associated with SVE/VE in ancestrally diverse human populations, we conducted a genome-wide association study of electrocardiographically identified SVE and VE in five cohorts including approximately 43,000 participants of African, European and Hispanic/Latino ancestry. In thirteen ancestry-stratified subgroups, we tested multivariable-adjusted associations of SVE and VE with single nucleotide polymorphism (SNP) dosage. We combined subgroup-specific association estimates in inverse variance-weighted, fixed-effects and Bayesian meta-analyses. We also combined fixed-effects meta-analytic t-test statistics for SVE and VE in multi-trait SNP association analyses. No loci reached genome-wide significance in trans-ethnic meta-analyses. However, we found genome-wide significant SNPs intronic to an apoptosis-enhancing gene previously associated with QRS interval duration (FAF1; lead SNP rs7545860; effect allele frequency = 0.02; P = 2.0 × 10-8) in multi-trait analysis among European ancestry participants and near a locus encoding calcium-dependent glycoproteins (DSC3; lead SNP rs8086068; effect allele frequency = 0.17) in meta-analysis of SVE (P = 4.0 × 10-8) and multi-trait analysis (P = 2.9 × 10-9) among African ancestry participants. The novel findings suggest several mechanisms by which genetic variation may predispose to ectopy in humans and highlight the potential value of leveraging pleiotropy in future studies of ectopy-related phenotypes.

Published
2018

7. More Similar than Different: Memory, Executive Functions, Cortical Thickness, and Glucose Metabolism in Biomarker-Positive Alzheimer’s Disease and Behavioral Variant Frontotemporal Dementia

Author

Keith, Cierra M., primary, Haut, Marc W., additional, D’Haese, Pierre-François, additional, Mehta, Rashi I., additional, Vieira Ligo Teixeira, Camila, additional, Coleman, Michelle M., additional, Miller, Mark, additional, Ward, Melanie, additional, Navia, R. Osvaldo, additional, Marano, Gary, additional, Wang, Xiaofei, additional, McCuddy, William T., additional, Lindberg, Katharine, additional, and Wilhelmsen, Kirk C., additional

Published
2024
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8. A genome-wide interaction analysis of tricyclic/tetracyclic antidepressants and RR and QT intervals: a pharmacogenomics study from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium

Author

Noordam, Raymond, Sitlani, Colleen M, Avery, Christy L, Stewart, James D, Gogarten, Stephanie M, Wiggins, Kerri L, Trompet, Stella, Warren, Helen R, Sun, Fangui, Evans, Daniel S, Li, Xiaohui, Li, Jin, Smith, Albert V, Bis, Joshua C, Brody, Jennifer A, Busch, Evan L, Caulfield, Mark J, Chen, Yii-Der I, Cummings, Steven R, Cupples, L Adrienne, Duan, Qing, Franco, Oscar H, Méndez-Giráldez, Rául, Harris, Tamara B, Heckbert, Susan R, van Heemst, Diana, Hofman, Albert, Floyd, James S, Kors, Jan A, Launer, Lenore J, Li, Yun, Li-Gao, Ruifang, Lange, Leslie A, Lin, Henry J, de Mutsert, Renée, Napier, Melanie D, Newton-Cheh, Christopher, Poulter, Neil, Reiner, Alexander P, Rice, Kenneth M, Roach, Jeffrey, Rodriguez, Carlos J, Rosendaal, Frits R, Sattar, Naveed, Sever, Peter, Seyerle, Amanda A, Slagboom, P Eline, Soliman, Elsayed Z, Sotoodehnia, Nona, Stott, David J, Stürmer, Til, Taylor, Kent D, Thornton, Timothy A, Uitterlinden, André G, Wilhelmsen, Kirk C, Wilson, James G, Gudnason, Vilmundur, Jukema, J Wouter, Laurie, Cathy C, Liu, Yongmei, Mook-Kanamori, Dennis O, Munroe, Patricia B, Rotter, Jerome I, Vasan, Ramachandran S, Psaty, Bruce M, Stricker, Bruno H, and Whitsel, Eric A

Subjects
Pharmacology and Pharmaceutical Sciences, Biological Sciences, Biomedical and Clinical Sciences, Genetics, Health Disparities, Human Genome, Minority Health, Cardiovascular, Heart Disease, Good Health and Well Being, Aged, Aging, Antidepressive Agents, Tricyclic, Electrocardiography, Female, Genetic Loci, Genome-Wide Association Study, Heart, Humans, Male, Middle Aged, Pharmacogenetics, Genome-wide, QT interval electrocardiography, RR interval, drug-gene interaction, tri/tetracyclic antidepressants, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundIncreased heart rate and a prolonged QT interval are important risk factors for cardiovascular morbidity and mortality, and can be influenced by the use of various medications, including tricyclic/tetracyclic antidepressants (TCAs). We aim to identify genetic loci that modify the association between TCA use and RR and QT intervals.Methods and resultsWe conducted race/ethnic-specific genome-wide interaction analyses (with HapMap phase II imputed reference panel imputation) of TCAs and resting RR and QT intervals in cohorts of European (n=45 706; n=1417 TCA users), African (n=10 235; n=296 TCA users) and Hispanic/Latino (n=13 808; n=147 TCA users) ancestry, adjusted for clinical covariates. Among the populations of European ancestry, two genome-wide significant loci were identified for RR interval: rs6737205 in BRE (β=56.3, pinteraction=3.9e-9) and rs9830388 in UBE2E2 (β=25.2, pinteraction=1.7e-8). In Hispanic/Latino cohorts, rs2291477 in TGFBR3 significantly modified the association between TCAs and QT intervals (β=9.3, pinteraction=2.55e-8). In the meta-analyses of the other ethnicities, these loci either were excluded from the meta-analyses (as part of quality control), or their effects did not reach the level of nominal statistical significance (pinteraction>0.05). No new variants were identified in these ethnicities. No additional loci were identified after inverse-variance-weighted meta-analysis of the three ancestries.ConclusionsAmong Europeans, TCA interactions with variants in BRE and UBE2E2 were identified in relation to RR intervals. Among Hispanic/Latinos, variants in TGFBR3 modified the relation between TCAs and QT intervals. Future studies are required to confirm our results.

Published
2017

9. Variants Near CCK Receptors are Associated With Electrophysiological Responses to Pre-pulse Startle Stimuli in a Mexican American Cohort

Author

Norden-Krichmar, Trina M, Gizer, Ian R, Phillips, Evelyn, Wilhelmsen, Kirk C, Schork, Nicholas J, and Ehlers, Cindy L

Subjects
Pharmacology and Pharmaceutical Sciences, Biomedical and Clinical Sciences, Brain Disorders, Clinical Research, Neurosciences, Mental Health, Genetics, Substance Misuse, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Cohort Studies, Electrophysiological Phenomena, Female, Humans, Male, Mexican Americans, Receptor, Cholecystokinin A, Receptor, Cholecystokinin B, Reflex, Startle, Risk Assessment, Young Adult, startle response, EEG, ERP, alcohol dependence, Clinical Sciences, Paediatrics and Reproductive Medicine, Cognitive Sciences, Genetics & Heredity, Clinical sciences, Reproductive medicine
Abstract

Neurophysiological measurements of the response to pre-pulse and startle stimuli have been suggested to represent an important endophenotype for both substance dependence and other select psychiatric disorders. We have previously shown, in young adult Mexican Americans (MA), that presentation of a short delay acoustic pre-pulse, prior to the startle stimuli can elicit a late negative component at about 400 msec (N4S), in the event-related potential (ERP), recorded from frontal cortical areas. In the present study, we investigated whether genetic factors associated with this endophenotype could be identified. The study included 420 (age 18-30 years) MA men (n = 170), and women (n = 250). DNA was genotyped using an Affymetrix Axiom Exome1A chip. An association analysis revealed that the CCKAR and CCKBR (cholecystokinin A and B receptor) genes each had a nearby variant that showed suggestive significance with the amplitude of the N4S component to pre-pulse stimuli. The neurotransmitter cholecystokinin (CCK), along with its receptors, CCKAR and CCKBR, have been previously associated with psychiatric disorders, suggesting that variants near these genes may play a role in the pre-pulse/startle response in this cohort.

Published
2015

11. Blood-based protein predictors of dementia severity as measured by δ: Replication across biofluids and cohorts

Author

Pavlik, Valory, Massman, Paul, Darby, Eveleen, Rodriguear, Monica, Ansari, Aisha Khaleeq, DeToledo, John C., Reddy, Hemachandra, Wilms, Henrick, Johnson, Kim, Perez, Victoria, Fairchild, Thomas, Knebl, Janice, O'Bryant, Sid E., Hall, James R., Johnson, Leigh, Barber, Robert C., Mains, Douglas, Alvarez, Lisa, Cullum, Munro, Rosenberg, Roger, Williams, Benjamin, Quiceno, Mary, Reisch, Joan, Hynan, Linda S., Huebinger, Ryan, Smith, Janet, Nguyen, Trung, Royall, Donald, Palmer, Raymond, Polk, Marsha, Stevens, Alan, Ory, Marcia, Paydarfar, David, Bertelson, John, Woon, Martin, Ayres, Gayle, Aguirre, Alyssa, Wilhelmsen, Kirk C., Tilson, Jeffrey L., Royall, Donald R., Bishnoi, Ram J., and Palmer, Raymond F.

Published
2019
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12. Protective variant associated with alcohol dependence in a Mexican American cohort.

Author

Norden-Krichmar, Trina M, Gizer, Ian R, Wilhelmsen, Kirk C, Schork, Nicholas J, and Ehlers, Cindy L

Subjects
Humans, Alcoholism, Alcohol Dehydrogenase, Cohort Studies, Sequence Analysis, DNA, Gene Frequency, Genotype, Linkage Disequilibrium, Phenotype, Multigene Family, Diagnostic and Statistical Manual of Mental Disorders, Adolescent, Adult, Mexican Americans, United States, Female, Male, Genetic Variation, Genome-Wide Association Study, Young Adult, Genotyping Techniques, Alcohol dependence, Alcohol dehydrogenase, ADH, Sequence Analysis, DNA, Brain Disorders, Genetics, Human Genome, Clinical Research, Alcohol Use and Health, Neurosciences, Substance Abuse, 2.1 Biological and endogenous factors, Genetics & Heredity, Clinical Sciences
Abstract

BackgroundMexican Americans, particularly those born in the United States, are at greater risk for alcohol associated morbidity and mortality. The present study sought to investigate whether specific genetic variants may be associated with alcohol use disorder phenotypes in a select population of Mexican American young adults.MethodsThe study evaluated a cohort of 427 (age 18 - 30 years) Mexican American men (n = 171) and women (n = 256). Information on alcohol dependence was obtained through interview using the Semi-Structured Assessment for the Genetics of Alcoholism (SSAGA). For all subjects, DNA was extracted from blood samples, followed by genotyping using an Affymetrix Axiom Exome1A chip.ResultsA protective variant (rs991316) located downstream from the ADH7 (alcohol dehydrogenase 7) gene showed suggestive significance in association with alcohol dependence symptom counts derived from DSM-III-R and DSM-IV criteria, as well as to clustered alcohol dependence symptoms. Additional linkage analysis suggested that nearby variants in linkage disequilibrium with rs991316 were not responsible for the observed association with the alcohol dependence phenotypes in this study.ConclusionsADH7 has been shown to have a protective role against alcohol dependence in previous studies involving other ethnicities, but has not been reported for Mexican Americans. These results suggest that variants near ADH7 may play a role in protection from alcohol dependence in this Mexican American cohort.

Published
2014

13. Correlation analysis of genetic admixture and social identification with body mass index in a Native American Community

Author

Norden‐Krichmar, Trina M, Gizer, Ian R, Libiger, Ondrej, Wilhelmsen, Kirk C, Ehlers, Cindy L, and Schork, Nicholas J

Subjects
Obesity, American Indian or Alaska Native, Genetics, Nutrition, Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Body Height, Body Mass Index, Body Weight, Female, Genetic Markers, Genome-Wide Association Study, Humans, Indians, North American, Male, Middle Aged, North America, Pedigree, Regression Analysis, Social Identification, Socioeconomic Factors, Young Adult, Evolutionary Biology, Nutrition and Dietetics, Anthropology
Abstract

ObjectivesBody mass index (BMI) is a well-known measure of obesity with a multitude of genetic and non-genetic determinants. Identifying the underlying factors associated with BMI is difficult because of its multifactorial etiology that varies as a function of geoethnic background and socioeconomic setting. Thus, we pursued a study exploring the influence of the degree of Native American admixture on BMI (as well as weight and height individually) in a community sample of Native Americans (n = 846) while accommodating a variety of socioeconomic and cultural factors.MethodsParticipants' degree of Native American (NA) ancestry was estimated using a genome-wide panel of markers. The participants also completed an extensive survey of cultural and social identity measures: the Indian Culture Scale (ICS) and the Orthogonal Cultural Identification Scale (OCIS). Multiple linear regression was used to examine the relation between these measures and BMI.ResultsOur results suggest that BMI is correlated positively with the proportion of NA ancestry. Age was also significantly associated with BMI, while gender and socioeconomic measures (education and income) were not. For the two cultural identity measures, the ICS showed a positive correlation with BMI, while OCIS was not associated with BMI.ConclusionsTaken together, these results suggest that genetic and cultural environmental factors, rather than socioeconomic factors, account for a substantial proportion of variation in BMI in this population. Further, significant correlations between degree of NA ancestry and BMI suggest that admixture mapping may be appropriate to identify loci associated with BMI in this population.

Published
2014

14. LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry

Author

Katsumata, Yuriko, primary, Fardo, David W, additional, Shade, Lincoln M P, additional, Bowen, James D, additional, Crane, Paul K, additional, Jarvik, Gail P, additional, Keene, C Dirk, additional, Larson, Eric B, additional, McCormick, Wayne C, additional, McCurry, Susan M, additional, Mukherjee, Shubhabrata, additional, Kowall, Neil W, additional, McKee, Ann C, additional, Honig, Robert A, additional, Lawrence, S, additional, Vonsattel, Jean Paul, additional, Williamson, Jennifer, additional, Small, Scott, additional, Burke, James R, additional, Hulette, Christine M, additional, Welsh-Bohmer, Kathleen A, additional, Gearing, Marla, additional, Lah, James J, additional, Levey, Allan I, additional, Wingo, Thomas S, additional, Apostolova, Liana G, additional, Farlow, Martin R, additional, Ghetti, Bernardino, additional, Saykin, Andrew J, additional, Spina, Salvatore, additional, Albert, Marilyn S, additional, Lyketsos, Constantine G, additional, Troncoso, Juan C, additional, Frosch, Matthew P, additional, Green, Robert C, additional, Growdon, John H, additional, Hyman, Bradley T, additional, Tanzi, Rudolph E, additional, Potter, Huntington, additional, Dickson, Dennis W, additional, Ertekin-Taner, Nilufer, additional, Graff-Radford, Neill R, additional, Parisi, Joseph E, additional, Petersen, Ronald C, additional, Duara, Ranjan, additional, Buxbaum, Joseph D, additional, Goate, Alison M, additional, Sano, Mary, additional, Masurkar, Arjun V, additional, Wisniewski, Thomas, additional, Bigio, Eileen H, additional, Mesulam, Marsel, additional, Weintraub, Sandra, additional, Vassar, Robert, additional, Kaye, Jeffrey A, additional, Quinn, Joseph F, additional, Woltjer, Randall L, additional, Barnes, Lisa L, additional, Bennett, David A, additional, Schneider, Julie A, additional, Yu, Lei, additional, Henderson, Victor, additional, Fallon, Kenneth B, additional, Harrell, Lindy E, additional, Marson, Daniel C, additional, Roberson, Erik D, additional, DeCarli, Charles, additional, Jin, Lee-Way, additional, Olichney, John M, additional, Kim, Ronald, additional, LaFerla, Frank M, additional, Monuki, Edwin, additional, Head, Elizabeth, additional, Sultzer, David, additional, Geschwind, Daniel H, additional, Vinters, Harry V, additional, Chesselet, Marie-Francoise, additional, Galasko, Douglas R, additional, Brewer, James B, additional, Boxer, Adam, additional, Karydas, Anna, additional, Kramer, Joel H, additional, Miller, Bruce L, additional, Rosen, Howard J, additional, Seeley, William W, additional, Burns, Jeffrey M, additional, Swerdlow, Russell H, additional, Abner, Erin, additional, Van Eldik, Linda J, additional, Albin, Roger L, additional, Lieberman, Andrew P, additional, Paulson, Henry L, additional, Arnold, Steven E, additional, Trojanowski, John Q, additional, Van Deerlin, Vivianna M, additional, Hamilton, Ronald L, additional, Kamboh, M Ilyas, additional, Lopez, Oscar L, additional, Becker, James T, additional, Cao, Chuanhai, additional, Raj, Ashok, additional, Smith, Amanda G, additional, Chui, Helena C, additional, Miller, Carol A, additional, Ringman, John M, additional, Schneider, Lon S, additional, Bird, Thomas D, additional, Sonnen, Joshua A, additional, Yu, Chang-En, additional, Grabowski, Thomas, additional, Peskind, Elaine, additional, Raskind, Murray, additional, Li, Ge, additional, Tsuang, Debby W, additional, Asthana, Sanjay, additional, Atwood, Craig S, additional, Carlsson, Cynthia M, additional, Sager, Mark A, additional, Chin, Nathaniel A, additional, Craft, Suzanne, additional, Cairns, Nigel J, additional, Morris, John C, additional, Cruchaga, Carlos, additional, Strittmatter, Stephen, additional, Reiman, Eric M, additional, Beach, Thomas G, additional, Huentelman, Matthew J, additional, Hardy, John, additional, Myers, Amanda J, additional, Kauwe, John S K, additional, Hakonarson, Hakon, additional, Blacker, Deborah, additional, Montine, Thomas J, additional, Baldwin, Clinton T, additional, Farrer, Lindsay A, additional, Jun, Gyungah, additional, Lunetta, Kathryn L, additional, Bush, William S, additional, Haines, Jonathan L, additional, Lerner, Alan J, additional, Zhou, Xiongwei, additional, Barral, Sandra, additional, Reitz, Christiane, additional, Vardarajan, Badri N, additional, Mayeux, Richard, additional, Beecham, Gary W, additional, Carney, Regina M, additional, Cuccaro, Michael L, additional, Gilbert, John R, additional, Hamilton-Nelson, Kara L, additional, Kunkle, Brian W, additional, Martin, Eden R, additional, Pericak-Vance, Margaret A, additional, Vance, Jeffery M, additional, Cantwell, Laura B, additional, Kuzma, Amanda P, additional, Malamon, John, additional, Naj, Adam C, additional, Qu, Liming, additional, Schellenberg, Gerard D, additional, Valladares, Otto, additional, Wang, Li-San, additional, Zhao, Yi, additional, Leverenz, James B, additional, De Jager, Philip L, additional, Evans, Denis A, additional, Katz, Mindy J, additional, Lipton, Richard B, additional, Boeve, Bradley F, additional, Allen, Mariet, additional, Carrasquillo, Minerva M, additional, Younkin, Steven G, additional, Kukull, Walter A, additional, Faber, Kelley M, additional, Foroud, Tatiana M, additional, Pavlik, Valory, additional, Massman, Paul, additional, Darby, Eveleen, additional, Rodriguear, Monica, additional, Khaleeq, Aisha, additional, Royall, Donald R, additional, Stevens, Alan, additional, Ory, Marcia, additional, DeToledo, John C, additional, Wilms, Henrick, additional, Johnson, Kim, additional, Perez, Victoria, additional, Hernandez, Michelle, additional, Wilhelmsen, Kirk C, additional, Tilson, Jeffrey, additional, Chasse, Scott, additional, Barber, Robert C, additional, Fairchild, Thomas J, additional, O’Bryant, Sid E, additional, Knebl, Janice, additional, Hall, James R, additional, Johnson, Leigh, additional, Mains, Douglas, additional, Alvarez, Lisa, additional, Gamboa, Adriana, additional, Paydarfar, David, additional, Bertelson, John, additional, Woon, Martin, additional, Ayres, Gayle, additional, Aguirre, Alyssa, additional, Palmer, Raymond, additional, Polk, Marsha, additional, Adams, Perrie M, additional, Huebinger, Ryan M, additional, Reisch, Joan S, additional, Rosenberg, Roger N, additional, Cullum, Munro, additional, Williams, Benjamin, additional, Quiceno, Mary, additional, Hynan, Linda, additional, Smith, Janet, additional, Davis, Barb, additional, Nguyen, Trung, additional, Rogaeva, Ekaterina, additional, George-Hyslop, Peter St, additional, and Nelson, Peter T, additional

Published
2023
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15. Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifiesLRRC4C, LHX5-AS1and nominates ancestry-specific lociPTPRK,GRB14, andKIAA0825as novel risk loci for Alzheimer’s disease: the Alzheimer’s Disease Genetics Consortium

Author

Rajabli, Farid, primary, Benchek, Penelope, additional, Tosto, Giuseppe, additional, Kushch, Nicholas, additional, Sha, Jin, additional, Bazemore, Katrina, additional, Zhu, Congcong, additional, Lee, Wan-Ping, additional, Haut, Jacob, additional, Hamilton-Nelson, Kara L., additional, Wheeler, Nicholas R., additional, Zhao, Yi, additional, Farrell, John J., additional, Grunin, Michelle A., additional, Leung, Yuk Yee, additional, Kuksa, Pavel P., additional, Li, Donghe, additional, Lucio da Fonseca, Eder, additional, Mez, Jesse B., additional, Palmer, Ellen L., additional, Pillai, Jagan, additional, Sherva, Richard M., additional, Song, Yeunjoo E., additional, Zhang, Xiaoling, additional, Iqbal, Taha, additional, Pathak, Omkar, additional, Valladares, Otto, additional, Kuzma, Amanda B., additional, Abner, Erin, additional, Adams, Perrie M., additional, Aguirre, Alyssa, additional, Albert, Marilyn S., additional, Albin, Roger L., additional, Allen, Mariet, additional, Alvarez, Lisa, additional, Apostolova, Liana G., additional, Arnold, Steven E., additional, Asthana, Sanjay, additional, Atwood, Craig S., additional, Ayres, Gayle, additional, Baldwin, Clinton T., additional, Barber, Robert C., additional, Barnes, Lisa L., additional, Barral, Sandra, additional, Beach, Thomas G., additional, Becker, James T., additional, Beecham, Gary W., additional, Beekly, Duane, additional, Benitez, Bruno A., additional, Bennett, David, additional, Bertelson, John, additional, Bird, Thomas D., additional, Blacker, Deborah, additional, Boeve, Bradley F., additional, Bowen, James D., additional, Boxer, Adam, additional, Brewer, James, additional, Burke, James R., additional, Burns, Jeffrey M., additional, Buxbaum, Joseph D., additional, Cairns, Nigel J., additional, Cantwell, Laura B., additional, Cao, Chuanhai, additional, Carlson, Christopher S., additional, Carlsson, Cynthia M., additional, Carney, Regina M., additional, Carrasquillo, Minerva M., additional, Chasse, Scott, additional, Chesselet, Marie-Francoise, additional, Chin, Nathaniel A., additional, Chui, Helena C., additional, Chung, Jaeyoon, additional, Craft, Suzanne, additional, Crane, Paul K., additional, Cribbs, David H., additional, Crocco, Elizabeth A., additional, Cruchaga, Carlos, additional, Cuccaro, Michael L., additional, Cullum, Munro, additional, Darby, Eveleen, additional, Davis, Barbara, additional, De Jager, Philip L., additional, DeCarli, Charles, additional, DeToledo, John, additional, Dick, Malcolm, additional, Dickson, Dennis W., additional, Dombroski, Beth A., additional, Doody, Rachelle S., additional, Duara, Ranjan, additional, Ertekin-Taner, NIlüfer, additional, Evans, Denis A., additional, Faber, Kelley M., additional, Fairchild, Thomas J., additional, Fallon, Kenneth B., additional, Fardo, David W., additional, Farlow, Martin R., additional, Fernandez-Hernandez, Victoria, additional, Ferris, Steven, additional, Foroud, Tatiana M., additional, Frosch, Matthew P., additional, Fulton-Howard, Brian, additional, Galasko, Douglas R., additional, Gamboa, Adriana, additional, Gearing, Marla, additional, Geschwind, Daniel H., additional, Ghetti, Bernardino, additional, Gilbert, John R., additional, Goate, Alison M., additional, Grabowski, Thomas J., additional, Graff-Radford, Neill R., additional, Green, Robert C., additional, Growdon, John H., additional, Hakonarson, Hakon, additional, Hall, James, additional, Hamilton, Ronald L., additional, Harari, Oscar, additional, Hardy, John, additional, Harrell, Lindy E., additional, Head, Elizabeth, additional, Henderson, Victor W., additional, Hernandez, Michelle, additional, Hohman, Timothy, additional, Honig, Lawrence S., additional, Huebinger, Ryan M., additional, Huentelman, Matthew J., additional, Hulette, Christine M., additional, Hyman, Bradley T., additional, Hynan, Linda S., additional, Ibanez, Laura, additional, Jarvik, Gail P., additional, Jayadev, Suman, additional, Jin, Lee-Way, additional, Johnson, Kim, additional, Johnson, Leigh, additional, Kamboh, M. Ilyas, additional, Karydas, Anna M., additional, Katz, Mindy J., additional, Kauwe, John S., additional, Kaye, Jeffrey A., additional, Keene, C. Dirk, additional, Khaleeq, Aisha, additional, Kim, Ronald, additional, Knebl, Janice, additional, Kowall, Neil W., additional, Kramer, Joel H., additional, Kukull, Walter A., additional, LaFerla, Frank M., additional, Lah, James J., additional, Larson, Eric B., additional, Lerner, Alan, additional, Leverenz, James B., additional, Levey, Allan I., additional, Lieberman, Andrew P., additional, Lipton, Richard B., additional, Logue, Mark, additional, Lopez, Oscar L., additional, Lunetta, Kathryn L., additional, Lyketsos, Constantine G., additional, Mains, Douglas, additional, Margaret, Flanagan E., additional, Marson, Daniel C., additional, Martin, Eden R R., additional, Martiniuk, Frank, additional, Mash, Deborah C., additional, Masliah, Eliezer, additional, Massman, Paul, additional, Masurkar, Arjun, additional, McCormick, Wayne C., additional, McCurry, Susan M., additional, McDavid, Andrew N., additional, McDonough, Stefan, additional, McKee, Ann C., additional, Mesulam, Marsel, additional, Miller, Bruce L., additional, Miller, Carol A., additional, Miller, Joshua W., additional, Montine, Thomas J., additional, Monuki, Edwin S., additional, Morris, John C., additional, Mukherjee, Shubhabrata, additional, Myers, Amanda J., additional, Nguyen, Trung, additional, O’Bryant, Sid, additional, Olichney, John M., additional, Ory, Marcia, additional, Palmer, Raymond, additional, Parisi, Joseph E., additional, Paulson, Henry L., additional, Pavlik, Valory, additional, Paydarfar, David, additional, Perez, Victoria, additional, Peskind, Elaine, additional, Petersen, Ronald C., additional, Pierce, Aimee, additional, Polk, Marsha, additional, Poon, Wayne W., additional, Potter, Huntington, additional, Qu, Liming, additional, Quiceno, Mary, additional, Quinn, Joseph F., additional, Raj, Ashok, additional, Raskind, Murray, additional, Reiman, Eric M., additional, Reisberg, Barry, additional, Reisch, Joan S., additional, Ringman, John M., additional, Roberson, Erik D., additional, Rodriguear, Monica, additional, Rogaeva, Ekaterina, additional, Rosen, Howard J., additional, Rosenberg, Roger N., additional, Royall, Donald R., additional, Sager, Mark A., additional, Sano, Mary, additional, Saykin, Andrew J., additional, Schneider, Julie A., additional, Schneider, Lon S., additional, Seeley, William W., additional, Slifer, Susan H., additional, Small, Scott, additional, Smith, Amanda G., additional, Smith, Janet P., additional, Sonnen, Joshua A., additional, Spina, Salvatore, additional, St George-Hyslop, Peter, additional, Stern, Robert A., additional, Stevens, Alan B., additional, Strittmatter, Stephen M., additional, Sultzer, David, additional, Swerdlow, Russell H., additional, Tanzi, Rudolph E., additional, Tilson, Jeffrey L., additional, Trojanowski, John Q., additional, Troncoso, Juan C., additional, Tsuang, Debby W., additional, Van Deerlin, Vivianna M., additional, van Eldik, Linda J., additional, Vance, Jeffery M., additional, Vardarajan, Badri N., additional, Vassar, Robert, additional, Vinters, Harry V., additional, Vonsattel, Jean-Paul, additional, Weintraub, Sandra, additional, Welsh-Bohmer, Kathleen A., additional, Whitehead, Patrice L., additional, Wijsman, Ellen M., additional, Wilhelmsen, Kirk C., additional, Williams, Benjamin, additional, Williamson, Jennifer, additional, Wilms, Henrik, additional, Wingo, Thomas S., additional, Wisniewski, Thomas, additional, Woltjer, Randall L., additional, Woon, Martin, additional, Wright, Clinton B., additional, Wu, Chuang-Kuo, additional, Younkin, Steven G., additional, Yu, Chang-En, additional, Yu, Lei, additional, Zhu, Xiongwei, additional, Kunkle, Brian W., additional, Bush, William S., additional, Wang, Li-San, additional, Farrer, Lindsay A., additional, Haines, Jonathan L., additional, Mayeux, Richard, additional, Pericak-Vance, Margaret A., additional, Schellenberg, Gerard D., additional, Jun, Gyungah R., additional, Reitz, Christiane, additional, and Naj, Adam C., additional

Published
2023
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16. Odorant Item Specific Olfactory Identification Deficit May Differentiate Alzheimer Disease From Aging

Author

Pavlik, Valory, Massman, Paul, Darby, Eveleen, Rodriguear, Monica, Khaleeq Ansari, Aisha, DeToledo, John C., Reddy, Hemachandra, Wilms, Henrick, Johnson, Kim, Perez, Victoria, Fairchild, Thomas, Knebl, Janice, O'Bryant, Sid E., Hall, James R., Johnson, Leigh, Barber, Robert C., Mains, Douglas, Alvarez, Lisa, Cullum, Munro, Rosenberg, Roger, Williams, Benjamin, Quiceno, Mary, Reisch, Joan, Hynan, Linda S., Huebinger, Ryan, Smith, Janet, Nguyen, Trung, Royall, Donald, Palmer, Raymond, Polk, Marsha, Stevens, Alan, Ory, Marcia, Paydarfar, David, Bertelson, John, Woon, Martin, Ayres, Gayle, Aguirre, Alyssa, Wilhelmsen, Kirk C., Tilson, Jeffrey L., Woodward, Matthew R., Hafeez, Muhammad Ubaid, Qi, Qianya, Riaz, Ahmed, Benedict, Ralph H.B., Yan, Li, and Szigeti, Kinga

Published
2018
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19. Pathogenic Implications of Mutations in the Tau Gene in Pallido-Ponto-Nigral Degeneration and Related Neurodegenerative Disorders Linked to Chromosome 17

Author

Clark, Lorraine N., Poorkaj, Parvoneh, Wszolek, Zbigniew, Geschwind, Daniel H., Nasreddine, Ziad S., Miller, Bruce, Li, Diane, Payami, Haydeh, Awert, Fre, Markopoulou, Katerina, Andreadis, Athena, D'Souza, Ian, Reed, Lee, Trojanowski, John Q., Zhukareva, Victoria, Bird, Thomas, Schellenberg, Gerard, and Wilhelmsen, Kirk C.

Published
1998

21. Environmental and genetic determinants of tobacco use: methodology for a multidisciplinary, longitudinal family-based investigation.

Author

Swan, Gary E, Hudmon, Karen Suchanek, Jack, Lisa M, Hemberger, Kymberli, Carmelli, Dorit, Khroyan, Taline V, Ring, Huijun Z, Hops, Hyman, Andrews, Judy A, Tildesley, Elizabeth, McBride, Dale, Benowitz, Neal, Webster, Chris, Wilhelmsen, Kirk C, Feiler, Heidi S, Koenig, Barbara, Caron, Lorraine, Illes, Judy, and Cheng, Li S-C

Subjects
Biomedical and Clinical Sciences, Health Sciences, Genetic Testing, Cancer, Prevention, Basic Behavioral and Social Science, Clinical Research, Genetics, Behavioral and Social Science, Brain Disorders, Human Genome, Tobacco, Pediatric, Substance Misuse, Tobacco Smoke and Health, Good Health and Well Being, Adolescent, Adolescent Behavior, Adult, DNA, Environment, Ethics, Professional, Family Health, Female, Ganglionic Stimulants, Genetic Predisposition to Disease, Genotype, Guidelines as Topic, Humans, Longitudinal Studies, Male, Middle Aged, Nicotine, Patient Selection, Phenotype, Research Design, Risk Factors, Tobacco Use Disorder, Medical and Health Sciences, Epidemiology, Biomedical and clinical sciences, Health sciences
Abstract

This article describes the ongoing collaborative effort of six research teams to operationalize and execute an integrative approach to the study of gene x environment interactions in the development of tobacco dependence. At the core of the project is a longitudinal investigation of social and behavioral risk factors for tobacco use in individuals who were, on average, 13 years of age at intake and for whom smoking outcomes extending from early adolescence to young adulthood have been characterized previously (current average age of the cohort is 29 years). The conceptual framework for the integrative approach and the longitudinal investigation on which the study is based is presented. A description is also provided of the methods used to: (a) recruit participants and families to provide DNA samples and information on tobacco use; (b) assess participants for relevant tobacco-related phenotypes including smoking history, current use of tobacco, and nicotine metabolism; (c) assess the quality of the DNA samples collected from participants for genome-wide scanning and candidate gene analysis; (d) examine several research questions concerning the role of genetic and environmental factors in the onset and maintenance of tobacco use; and (e) ensure adherence to local and federal guidelines for ethical and legal investigations of genotypic associations with tobacco-related phenotypes in families. This investigation is unique among ongoing studies of the genetics of tobacco dependence in the extent to which equal importance has been assigned to both phenotypic and genotypic measurements.

Published
2003

22. Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders

Author

Haskell, Gloria T., Adams, Michael C., Fan, Zheng, Amin, Krunal, Guzman Badillo, Roberto J., Zhou, Linran, Bizon, Christopher, Chahin, Nizar, Greenwood, Robert S., Milko, Laura V., Shiloh-Malawsky, Yael, Crooks, Kristy R., Strande, Natasha, Tennison, Michael, Tilley, Christian R., Brandt, Alicia, Wilhelmsen, Kirk C., Weck, Karen, Evans, James P., and Berg, Jonathan S.

Published
2018
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24. Focused ultrasound–mediated blood-brain barrier opening in Alzheimer’s disease: long-term safety, imaging, and cognitive outcomes.

Author

Rezai, Ali R., Ranjan, Manish, Haut, Marc W., Carpenter, Jeffrey, D’Haese, Pierre-François, Mehta, Rashi I., Najib, Umer, Wang, Peng, Claassen, Daniel O., Chazen, J. Levi, Krishna, Vibhor, Deib, Gerard, Zibly, Zion, Hodder, Sally L., Wilhelmsen, Kirk C., Finomore, Victor, Konrad, Peter E., and Kaplitt, Michael

Published
2023
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27. Focused ultrasound–mediated blood-brain barrier opening in Alzheimer’s disease: long-term safety, imaging, and cognitive outcomes

Author

Rezai, Ali R., primary, Ranjan, Manish, additional, Haut, Marc W., additional, Carpenter, Jeffrey, additional, D’Haese, Pierre-François, additional, Mehta, Rashi I., additional, Najib, Umer, additional, Wang, Peng, additional, Claassen, Daniel O., additional, Chazen, J. Levi, additional, Krishna, Vibhor, additional, Deib, Gerard, additional, Zibly, Zion, additional, Hodder, Sally L., additional, Wilhelmsen, Kirk C., additional, Finomore, Victor, additional, Konrad, Peter E., additional, Kaplitt, Michael, additional, and _, _, additional

Published
2022
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28. Common susceptibility variants are shared between schizophrenia and psoriasis in the Han Chinese population

Author

Yin, Xianyong, Wineinger, Nathan E., Wang, Kai, Yue, Weihua, Norgren, Nina, Wang, Ling, Yao, Weiyi, Jiang, Xiaoyun, Wu, Bo, Cui, Yong, Shen, Changbing, Cheng, Hui, Zhou, Fusheng, Chen, Gang, Zuo, Xianbo, Zheng, Xiaodong, Fan, Xing, Wang, Hongyan, Wang, Lifang, Lee, Jimmy, Lam, Max, Tai, E. Shyong, Zhang, Zheng, Huang, Qiong, Sun, Liangdan, Xu, Jinhua, Yang, Sen, Wilhelmsen, Kirk C., Liu, Jianjun, Schork, Nicholas J., and Zhang, Xuejun

Subjects
Psoriasis -- Risk factors -- Demographic aspects -- Genetic aspects, Schizophrenia -- Risk factors -- Demographic aspects -- Genetic aspects, Health, Psychology and mental health
Abstract

Background: Previous studies have shown that individuals with schizophrenia have a greater risk for psoriasis than a typical person. This suggests that there might be a shared genetic etiology between the 2 conditions. We aimed to characterize the potential shared genetic susceptibility between schizophrenia and psoriasis using genome-wide marker genotype data. Methods: We obtained genetic data on individuals with psoriasis, schizophrenia and control individuals. We applied a marker-based coheritability estimation procedure, polygenic score analysis, a gene set enrichment test and a least absolute shrinkage and selection operator regression model to estimate the potential shared genetic etiology between the 2 diseases. We validated the results in independent schizophrenia and psoriasis cohorts from Singapore. Results: We included 1139 individuals with psoriasis, 744 with schizophrenia and 1678 controls in our analysis, and we validated the results in independent cohorts, including 441 individuals with psoriasis (and 2420 controls) and 1630 with schizophrenia (and 1860 controls). We estimated that a large fraction of schizophrenia and psoriasis risk could be attributed to common variants ([h.sup.2.sub.SNP] = 29% ± 5.0%, p = 2.00 x [10.sup.-8]), with a coheritability estimate between the traits of 21%. We identified 5 variants within the human leukocyte antigen (HLA) gene region, which were most likely to be associated with both diseases and collectively conferred a significant risk effect (odds ratio of highest risk quartile = 6.03, p < 2.00 x [10.sup.-16]). We discovered that variants contributing most to the shared heritable component between psoriasis and schizophrenia were enriched in antigen processing and cell endoplasmic reticulum. Limitations: Our sample size was relatively small. The findings of 5 HLA gene variants were complicated by the complex structure in the HLA region. Conclusion: We found evidence for a shared genetic etiology between schizophrenia and psoriasis. The mechanism for this shared genetic basis likely involves immune and calcium signalling pathways., Introduction Schizophrenia and psoriasis are common complex disorders with large immune components. (1,2) Schizophrenia has been shown to be associated with numerous autoimmune diseases, and psoriasis is a common immune-mediated [...]

Published
2016
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31. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Author

Kunkle, Brian W., Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C., Damotte, Vincent, Naj, Adam C., Boland, Anne, Vronskaya, Maria, van der Lee, Sven J., Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R., Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L., Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B., Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N., Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W., Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L., Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V., Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C., Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T., Adams, Hieab H., Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A., Dombroski, Beth A., Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B., Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S., Meslage, Stéphane, Kornhuber, Johannes, White, Charles C., Song, Yuenjoo, Barber, Robert C., Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M., Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L. Adrienne, Albert, Marilyn S., De Deyn, Peter P., Gu, Wei, Himali, Jayanadra J., Beekly, Duane, Squassina, Alessio, Hartmann, Annette M., Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E., Doody, Rachelle S., Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J., Benito, Yolanda A., Holmes, Clive, Karamujić-Čomić, Hata, Frosch, Matthew P., Thonberg, Hakan, Maier, Wolfgang, Roshchupkin, Gennady, Ghetti, Bernardino, Giedraitis, Vilmantas, Kawalia, Amit, Li, Shuo, Huebinger, Ryan M., Kilander, Lena, Moebus, Susanne, Hernández, Isabel, Kamboh, M. Ilyas, Brundin, RoseMarie, Turton, James, Yang, Qiong, Katz, Mindy J., Concari, Letizia, Lord, Jenny, Beiser, Alexa S., Keene, C. Dirk, Helisalmi, Seppo, Kloszewska, Iwona, Kukull, Walter A., Koivisto, Anne Maria, Lynch, Aoibhinn, Tarraga, Lluís, Larson, Eric B., Haapasalo, Annakaisa, Lawlor, Brian, Mosley, Thomas H., Lipton, Richard B., Solfrizzi, Vincenzo, Gill, Michael, Longstreth, Jr, W. T., Montine, Thomas J., Frisardi, Vincenza, Diez-Fairen, Monica, Rivadeneira, Fernando, Petersen, Ronald C., Deramecourt, Vincent, Alvarez, Ignacio, Salani, Francesca, Ciaramella, Antonio, Boerwinkle, Eric, Reiman, Eric M., Fievet, Nathalie, Rotter, Jerome I., Reisch, Joan S., Hanon, Olivier, Cupidi, Chiara, Uitterlinden, A. G. Andre, Royall, Donald R., Dufouil, Carole, Maletta, Raffaele Giovanni, de Rojas, Itziar, Sano, Mary, Brice, Alexis, Cecchetti, Roberta, George-Hyslop, Peter St, Ritchie, Karen, Tsolaki, Magda, Tsuang, Debby W., Dubois, Bruno, Craig, David, Wu, Chuang-Kuo, Soininen, Hilkka, Avramidou, Despoina, Albin, Roger L., Fratiglioni, Laura, Germanou, Antonia, Apostolova, Liana G., Keller, Lina, Koutroumani, Maria, Arnold, Steven E., Panza, Francesco, Gkatzima, Olymbia, Asthana, Sanjay, Hannequin, Didier, Whitehead, Patrice, Atwood, Craig S., Caffarra, Paolo, Hampel, Harald, Quintela, Inés, Carracedo, Ángel, Lannfelt, Lars, Rubinsztein, David C., Barnes, Lisa L., Pasquier, Florence, Frölich, Lutz, Barral, Sandra, McGuinness, Bernadette, Beach, Thomas G., Johnston, Janet A., Becker, James T., Passmore, Peter, Bigio, Eileen H., Schott, Jonathan M., Bird, Thomas D., Warren, Jason D., Boeve, Bradley F., Lupton, Michelle K., Bowen, James D., Proitsi, Petra, Boxer, Adam, Powell, John F., Burke, James R., Kauwe, John S. K., Burns, Jeffrey M., Mancuso, Michelangelo, Buxbaum, Joseph D., Bonuccelli, Ubaldo, Cairns, Nigel J., McQuillin, Andrew, Cao, Chuanhai, Livingston, Gill, Carlson, Chris S., Bass, Nicholas J., Carlsson, Cynthia M., Hardy, John, Carney, Regina M., Bras, Jose, Carrasquillo, Minerva M., Guerreiro, Rita, Allen, Mariet, Chui, Helena C., Fisher, Elizabeth, Masullo, Carlo, Crocco, Elizabeth A., DeCarli, Charles, Bisceglio, Gina, Dick, Malcolm, Ma, Li, Duara, Ranjan, Graff-Radford, Neill R., Evans, Denis A., Hodges, Angela, Faber, Kelley M., Scherer, Martin, Fallon, Kenneth B., Riemenschneider, Matthias, Fardo, David W., Heun, Reinhard, Farlow, Martin R., Kölsch, Heike, Ferris, Steven, Leber, Markus, Foroud, Tatiana M., Heuser, Isabella, Galasko, Douglas R., Giegling, Ina, Gearing, Marla, Hüll, Michael, Geschwind, Daniel H., Gilbert, John R., Morris, John, Green, Robert C., Mayo, Kevin, Growdon, John H., Feulner, Thomas, Hamilton, Ronald L., Harrell, Lindy E., Drichel, Dmitriy, Honig, Lawrence S., Cushion, Thomas D., Huentelman, Matthew J., Hollingworth, Paul, Hulette, Christine M., Hyman, Bradley T., Marshall, Rachel, Jarvik, Gail P., Meggy, Alun, Abner, Erin, Menzies, Georgina E., Jin, Lee-Way, Leonenko, Ganna, Real, Luis M., Jun, Gyungah R., Baldwin, Clinton T., Grozeva, Detelina, Karydas, Anna, Russo, Giancarlo, Kaye, Jeffrey A., Kim, Ronald, Jessen, Frank, Kowall, Neil W., Vellas, Bruno, Kramer, Joel H., Vardy, Emma, LaFerla, Frank M., Jöckel, Karl-Heinz, Lah, James J., Dichgans, Martin, Leverenz, James B., Mann, David, Levey, Allan I., Pickering-Brown, Stuart, Lieberman, Andrew P., Klopp, Norman, Lunetta, Kathryn L., Wichmann, H-Erich, Lyketsos, Constantine G., Morgan, Kevin, Marson, Daniel C., Brown, Kristelle, Martiniuk, Frank, Medway, Christopher, Mash, Deborah C., Nöthen, Markus M., Masliah, Eliezer, Hooper, Nigel M., McCormick, Wayne C., Daniele, Antonio, McCurry, Susan M., Bayer, Anthony, McDavid, Andrew N., Gallacher, John, McKee, Ann C., van den Bussche, Hendrik, Mesulam, Marsel, Brayne, Carol, Miller, Bruce L., Riedel-Heller, Steffi, Miller, Carol A., Miller, Joshua W., Al-Chalabi, Ammar, Morris, John C., Shaw, Christopher E., Myers, Amanda J., Wiltfang, Jens, O’Bryant, Sid, Olichney, John M., Alvarez, Victoria, Parisi, Joseph E., Singleton, Andrew B., Paulson, Henry L., Collinge, John, Perry, William R., Mead, Simon, Peskind, Elaine, Cribbs, David H., Rossor, Martin, Pierce, Aimee, Ryan, Natalie S., Poon, Wayne W., Nacmias, Benedetta, Potter, Huntington, Sorbi, Sandro, Quinn, Joseph F., Sacchinelli, Eleonora, Raj, Ashok, Spalletta, Gianfranco, Raskind, Murray, Caltagirone, Carlo, Bossù, Paola, Orfei, Maria Donata, Reisberg, Barry, Clarke, Robert, Reitz, Christiane, Smith, A David, Ringman, John M., Warden, Donald, Roberson, Erik D., Wilcock, Gordon, Rogaeva, Ekaterina, Bruni, Amalia Cecilia, Rosen, Howard J., Gallo, Maura, Rosenberg, Roger N., Ben-Shlomo, Yoav, Sager, Mark A., Mecocci, Patrizia, Saykin, Andrew J., Pastor, Pau, Cuccaro, Michael L., Vance, Jeffery M., Schneider, Julie A., Schneider, Lori S., Slifer, Susan, Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tang, Mitchell, Tanzi, Rudolph E., Trojanowski, John Q., Troncoso, Juan C., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Woltjer, Randall L., Wright, Clinton B., Yu, Chang-En, Yu, Lei, Saba, Yasaman, Alzheimer Disease Genetics Consortium (ADGC), The European Alzheimer’s Disease Initiative (EADI), Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium (CHARGE), Genetic and Environmental Risk in AD/Defining Genetic, Polygenic and Environmental Risk for Alzheimer’s Disease Consortium (GERAD/PERADES), Pilotto, Alberto, Bullido, Maria J., Peters, Oliver, Crane, Paul K., Bennett, David, Bosco, Paola, Coto, Eliecer, Boccardi, Virginia, De Jager, Phil L., Lleo, Alberto, Warner, Nick, Lopez, Oscar L., Ingelsson, Martin, Deloukas, Panagiotis, Cruchaga, Carlos, Graff, Caroline, Gwilliam, Rhian, Fornage, Myriam, Goate, Alison M., Sanchez-Juan, Pascual, Kehoe, Patrick G., Amin, Najaf, Ertekin-Taner, Nilifur, Berr, Claudine, Debette, Stéphanie, Love, Seth, Launer, Lenore J., Younkin, Steven G., Dartigues, Jean-Francois, Corcoran, Chris, Ikram, M. Arfan, Dickson, Dennis W., Nicolas, Gael, Campion, Dominique, Tschanz, JoAnn, Schmidt, Helena, Hakonarson, Hakon, Clarimon, Jordi, Munger, Ron, Schmidt, Reinhold, Farrer, Lindsay A., Van Broeckhoven, Christine, O’Donovan, Michael C., DeStefano, Anita L., Jones, Lesley, Haines, Jonathan L., Deleuze, Jean-Francois, Owen, Michael J., Gudnason, Vilmundur, Mayeux, Richard, Escott-Price, Valentina, Psaty, Bruce M., Ramirez, Alfredo, Wang, Li-San, Ruiz, Agustin, van Duijn, Cornelia M., Holmans, Peter A., Seshadri, Sudha, Williams, Julie, Amouyel, Phillippe, Schellenberg, Gerard D., Lambert, Jean-Charles, and Pericak-Vance, Margaret A.

Published
2019
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33. Erratum: Genetic loci associated with heart rate variability and their effects on cardiac disease risk

Author

Nolte, Ilja M., Munoz, M. Loretto, Tragante, Vinicius, Amare, Azmeraw T., Jansen, Rick, Vaez, Ahmad, von der Heyde, Benedikt, Avery, Christy L., Bis, Joshua C., Dierckx, Bram, van Dongen, Jenny, Gogarten, Stephanie M., Goyette, Philippe, Hernesniemi, Jussi, Huikari, Ville, Hwang, Shih-Jen, Jaju, Deepali, Kerr, Kathleen F., Kluttig, Alexander, Krijthe, Bouwe P., Kumar, Jitender, van der Laan, Sander W., Lyytikäinen, Leo-Pekka, Maihofer, Adam X., Minassian, Arpi, van der Most, Peter J., Müller-Nurasyid, Martina, Nivard, Michel, Salvi, Erika, Stewart, James D., Thayer, Julian F., Verweij, Niek, Wong, Andrew, Zabaneh, Delilah, Zafarmand, Mohammad H., Abdellaoui, Abdel, Albarwani, Sulayma, Albert, Christine, Alonso, Alvaro, Ashar, Foram, Auvinen, Juha, Axelsson, Tomas, Baker, Dewleen G., de Bakker, Paul I. W., Barcella, Matteo, Bayoumi, Riad, Bieringa, Rob J., Boomsma, Dorret, Boucher, Gabrielle, Britton, Annie R., Christophersen, Ingrid, Dietrich, Andrea, Ehret, George B., Ellinor, Patrick T., Eskola, Markku, Felix, Janine F., Floras, John S., Franco, Oscar H., Friberg, Peter, Gademan, Maaike G. J., Geyer, Mark A., Giedraitis, Vilmantas, Hartman, Catharina A., Hemerich, Daiane, Hofman, Albert, Hottenga, Jouke-Jan, Huikuri, Heikki, Hutri-Kähönen, Nina, Jouven, Xavier, Junttila, Juhani, Juonala, Markus, Kiviniemi, Antti M., Kors, Jan A., Kumari, Meena, Kuznetsova, Tatiana, Laurie, Cathy C., Lefrandt, Joop D., Li, Yong, Li, Yun, Liao, Duanping, Limacher, Marian C., Lin, Henry J., Lindgren, Cecilia M., Lubitz, Steven A., Mahajan, Anubha, McKnight, Barbara, zu Schwabedissen, Henriette Meyer, Milaneschi, Yuri, Mononen, Nina, Morris, Andrew P., Nalls, Mike A., Navis, Gerjan, Neijts, Melanie, Nikus, Kjell, North, Kari E., O'Connor, Daniel T., Ormel, Johan, Perz, Siegfried, Peters, Annette, Psaty, Bruce M., Raitakari, Olli T., Risbrough, Victoria B., Sinner, Moritz F., Siscovick, David, Smit, Johannes H., Smith, Nicholas L., Soliman, Elsayed Z., Sotoodehnia, Nona, Staessen, Jan A., Stein, Phyllis K., Stilp, Adrienne M., Stolarz-Skrzypek, Katarzyna, Strauch, Konstantin, Sundström, Johan, Swenne, Cees A., Syvänen, Ann-Christine, Tardif, Jean-Claude, Taylor, Kent D., Teumer, Alexander, Thornton, Timothy A., Tinker, Lesley E., Uitterlinden, André G., van Setten, Jessica, Voss, Andreas, Waldenberger, Melanie, Wilhelmsen, Kirk C., Willemsen, Gonneke, Wong, Quenna, Zhang, Zhu-Ming, Zonderman, Alan B, Cusi, Daniele, Evans, Michele K., Greiser, Halina K., van der Harst, Pim, Hassan, Mohammad, Ingelsson, Erik, Järvelin, Marjo-Riitta, Kääb, Stefan, Kähönen, Mika, Kivimaki, Mika, Kooperberg, Charles, Kuh, Diana, Lehtimäki, Terho, Lind, Lars, Nievergelt, Caroline M., O'Donnell, Chris J., Oldehinkel, Albertine J., Penninx, Brenda, Reiner, Alexander P., Riese, Harriëtte, van Roon, Arie M., Rioux, John D., Rotter, Jerome I., Sofer, Tamar, Stricker, Bruno H., Tiemeier, Henning, Vrijkotte, Tanja G. M., Asselbergs, Folkert W., Brundel, Bianca J. J.M, Heckbert, Susan R., Whitsel, Eric A., den Hoed, Marcel, Snieder, Harold, and de Geus, Eco J. C.

Published
2017
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36. The role of aldehyde dehydrogenase-1 (ALDH1A1) polymorphisms in harmful alcohol consumption in a Finnish population

Author

Lind Penelope A, Eriksson C, and Wilhelmsen Kirk C

Subjects
acetaldehyde, ALDH1A1, alcohol use, alcohol abuse, alcohol dependence, association, single nucleotide polymorphism, Medicine, Genetics, QH426-470
Abstract

Abstract Liver cystolic aldehyde dehydrogenase 1 (ALDH1A1) has been previously associated with both alcohol dependence and alcohol consumption behaviour, and has been implicated in alcohol-induced flushing and alcohol sensitivity in Caucasians. The present study tested for association between ALDH1A1 and alcohol consumption behaviour and susceptibility to problem drinking or alcohol dependence in Finnish cohorts of unrelated male subjects recruited from alcoholism clinical treatment facilities (n = 104) and from the general population (n = 201). All participants completed the Alcohol Use Disorder Identification Test (AUDIT) and were genotyped for eight single nucleotide polymorphisms (SNPs) within or flanking ALDH1A1. To test for association between alcohol consumption behaviour and these polymorphisms, we used generalised linear models and haplotypic analysis. Three SNPs were nominally associated (rs348449, p = 0.043; rs610529, p = 0.013; rs348479, p = 0.025) with the quantitative AUDIT score, which evaluates alcohol consumption behaviour. Two-locus (rs6I0529-rs2288087) haplotype analysis increased the strength of association with AUDIT score (p = 0.00I5). Additionally, rs348449 is highly associated with problem drinking (allelic odds ratio [OR] 7.87, 95 per cent confidence interval [CI] 1.67-37.01) but due to the low minor allele frequency (0.01 and 0.07 in controls and problem drinkers, respectively), more samples are required to validate this observation. Conversely, rs348479 (p = 0.019) and rs6I0529 (allelic OR 0.65, 95 per cent CI 0.43-0.98; genotypic OR 0.32, 95 per cent CI 0.12-0.84) are implicated in alcohol dependence status. This study provides further evidence for a role for ALDH1A1 in alcohol consumption behaviour, including problem drinking and possibly alcohol dependence, in our Finnish population.

Published
2008
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41. Additional file 1 of Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing

Author

Filer, Dayne L., Kuo, Fengshen, Brandt, Alicia T., Tilley, Christian R., Mieczkowski, Piotr A., Berg, Jonathan S., Robasky, Kimberly, Li, Yun, Bizon, Chris, Tilson, Jeffery L., Powell, Bradford C., Bost, Darius M., Jeffries, Clark D., and Wilhelmsen, Kirk C.

Abstract

Additional file 1. Vignette showing the R code and scripts necessary to reproduce the analysis presented.

Published
2021
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42. Assessment of the genetic variance of late-onset Alzheimer's disease

Author

Adams, Perrie M., Albert, Marilyn S., Albin, Roger L., Apostolova, Liana G., Arnold, Steven E., Asthana, Sanjay, Atwood, Craig S., Baldwin, Clinton T., Barber, Robert C., Barmada, Michael M., Barnes, Lisa L., Barral, Sandra, Beach, Thomas G., Becker, James T., Beecham, Gary W., Beekly, Duane, Bennett, David A., Bigio, Eileen H., Bird, Thomas D., Blacker, Deborah, Boeve, Bradley F., Bowen, James D., Boxer, Adam, Burke, James R., Burns, Jeffrey M., Buxbaum, Joseph D., Cairns, Nigel J., Cantwell, Laura B., Cao, Chuanhai, Carlson, Chris S., Carlsson, Cynthia M., Carney, Regina M., Carrasquillo, Minerva M., Carroll, Steven L., Chui, Helena C., Clark, David G., Corneveaux, Jason, Crane, Paul K., Cribbs, David H., Crocco, Elizabeth A., Cruchaga, Carlos, De Jager, Philip L., DeCarli, Charles, Demirci, F. Yesim, Dick, Malcolm, Dickson, Dennis W., Doody, Rachelle S., Duara, Ranjan, Ertekin-Taner, Nilufer, Evans, Denis A., Faber, Kelley M., Fairchild, Thomas J., Fallon, Kenneth B., Fardo, David W., Farlow, Martin R., Ferris, Steven, Foroud, Tatiana M., Frosch, Matthew P., Galasko, Douglas R., Gearing, Marla, Geschwind, Daniel H., Ghetti, Bernardino, Gilbert, John R., Goate, Alison M., Graff-Radford, Neill R., Green, Robert C., Growdon, John H., Hakonarson, Hakon, Hamilton, Ronald L., Hamilton-Nelson, Kara L., Hardy, John, Harrell, Lindy E., Honig, Lawrence S., Huebinger, Ryan M., Huentelman, Matthew J., Hulette, Christine M., Hyman, Bradley T., Jarvik, Gail P., Jicha, Gregory A., Jin, Lee-Way, Jun, Gyungah, Kamboh, M. Ilyas, Karydas, Anna, Katz, Mindy J., Kauwe, John S.K., Kaye, Jeffrey A., Kim, Ronald, Kowall, Neil W., Kramer, Joel H., Kukull, Walter A., Kunkle, Brian W., LaFerla, Frank M., Lah, James J., Larson, Eric B., Leverenz, James B., Levey, Allan I., Li, Ge, Lieberman, Andrew P., Lin, Chiao-Feng, Lipton, Richard B., Lopez, Oscar L., Lunetta, Kathryn L., Lyketsos, Constantine G., Mack, Wendy J., Marson, Daniel C., Martin, Eden R., Martiniuk, Frank, Mash, Deborah C., Masliah, Eliezer, McCormick, Wayne C., McCurry, Susan M., McDavid, Andrew N., McKee, Ann C., Mesulam, Marsel, Miller, Bruce L., Miller, Carol A., Miller, Joshua W., Montine, Thomas J., Morris, John C., Mukherjee, Shubhabrata, Murrell, Jill R., Myers, Amanda J., Naj, Adam C., O'Bryant, Sid, Olichney, John M., Pankratz, Vernon S., Parisi, Joseph E., Partch, Amanda, Paulson, Henry L., Perry, William, Peskind, Elaine, Petersen, Ronald C., Pierce, Aimee, Poon, Wayne W., Potter, Huntington, Quinn, Joseph F., Raj, Ashok, Raskind, Murray, Reiman, Eric M., Reisberg, Barry, Reisch, Joan S., Reitz, Christiane, Ringman, John M., Roberson, Erik D., Rogaeva, Ekaterina, Rosen, Howard J., Rosenberg, Roger N., Royall, Donald R., Sager, Mark A., Sano, Mary, Saykin, Andrew J., Schneider, Julie A., Schneider, Lon S., Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, St George-Hyslop, Peter, Stern, Robert A., Swerdlow, Russell H., Tanzi, Rudolph E., Thornton-Wells, Tricia A., Trojanowski, John Q., Troncoso, Juan C., Tsuang, Debby W., Valladares, Otto, Van Deerlin, Vivianna M., Van Eldik, Linda J., Vardarajan, Badri N., Vinters, Harry V., Vonsattel, Jean Paul, Wang, Li-San, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wendland, Jens R., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Winslow, Ashley R., Wishnek, Sarah, Woltjer, Randall L., Wright, Clinton B., Wu, Chuang-Kuo, Younkin, Steven G., Yu, Chang-En, Yu, Lei, Ridge, Perry G., Hoyt, Kaitlyn B., Boehme, Kevin, Haines, Jonathan L., Mayeux, Richard, Farrer, Lindsay A., Pericak-Vance, Margaret A., and Schellenberg, Gerard D.

Published
2016
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44. Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction.

Author

Filer, Dayne L., Mieczkowski, Piotr A., Brandt, Alicia, Gilmore, Kelly L., Powell, Bradford C., Berg, Jonathan S., Wilhelmsen, Kirk C., and Vora, Neeta L.

Abstract

Objective: Sequencing cell‐free DNA now allows detection of large chromosomal abnormalities and dominant Mendelian disorders in the prenatal period. Improving upon these methods would allow newborn screening programs to begin with prenatal genetics, ultimately improving the management of rare genetic disorders. Methods: As a pilot study, we performed exome sequencing on the cell‐free DNA from three mothers with singleton pregnancies to assess the viability of broad sequencing modalities in a noninvasive prenatal setting. Results: We found poor resolution of maternal and fetal genotypes due to both sampling and technical issues. Conclusion: We find broad sequencing modalities inefficient for noninvasive prenatal applications. Alternatively, we suggest a more targeted path forward for noninvasive prenatal genotyping. Key points: What's already known about this topic?Sequencing‐based noninvasive testing detects large copy number abnormalities and some single‐gene disorders.Fetal exome sequencing (ES) provides 10%–20% diagnostic yield for structural abnormalities after normal karyotype and microarray. What does this study add?Cell‐free ES in three gravid patients with suspected genetic disease in the fetus.Discussion of probability theory underlying noninvasive fetal genotyping.We demonstrate broad sequencing approaches are limited by sampling and technical difficulties, concluding broad sequencing is currently inappropriate for noninvasive testing. [ABSTRACT FROM AUTHOR]

Published
2022
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46. 'Genome-wide association study of susceptibility to particulate matter-associated QT prolongation'

Author

Gondalia, Rahul, Avery, Christy L., Napier, Melanie D., Mendez-Giraldez, Raul, Stewart, James D., Sitlani, Colleen M., Li, Yun, Wilhelmsen, Kirk C., Duan, Qing, Roach, Jeffrey, North, Kari E., Reiner, Alexander P., Zhang, Zhu-Ming, Tinker, Lesley F., Yanosky, Jeff D., Liao, Duanping, and Whitsel, Eric A.

Subjects
Environmental issues, Health
Abstract

Gondalia et al. have noted errors in their paper 'Genome-wide Association Study of Susceptibility to Particulate Matter-Associated QT Prolongation' in Table 1 and Figure 3. Table 1 should not have [...]

Published
2017
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48. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome

Author

Siegel, Dawn H., Ashton, Gabrielle H.S., Penagos, Homero G., Lee, James V., Feiler, Heidi S., Wilhelmsen, Kirk C., South, Andrew P., Smith, Frances J.D., Prescott, Alan R., Wessagowit, Vesarat, Oyama, Noritaka, Akiyama, Masashi, Aboud, Daifullah Al, Aboud, Khalid Al, Githami, Ahmad Al, Hawsawi, Khalid Al, Ismaily, Abla Al, Al-Suwaid, Raouf, Atherton, David J., Caputo, Ruggero, Fine, Jo-David, Frieden, Ilona J., Fuchs, Elaine, Haber, Richard M., Harada, Takashi, Kitajima, Yasuo, Mallory, Susan B., Ogawa, Hideoki, Sahin, Sedef, Shimizu, Hiroshi, Suga, Yasushi, Tadini, Gianluca, Tsuchiya, Kikuo, Wiebe, Colin B., Wojnarowska, Fenella, Zaghloul, Adel B., Hamada, Takahiro, Mallipeddi, Rajeev, Eady, Robin A.J., McLean, W.H. Irwin, McGrath, John A., and Epstein, Ervin H., Jr.

Subjects
Genetic disorders -- Research, Genetic disorders -- Physiological aspects, Skin -- Abnormalities, Biological sciences
Published
2003

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