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293 results on '"Kim, Cecilia E"'

1. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Author

Li, Dong, Chang, Xiao, Connolly, John J, Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J, Robinson, Nora, Abrams, Debra, Li, Yun R, Bradfield, Jonathan P, Kim, Cecilia E, Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D, Thomas, Kelly A, Chiavacci, Rosetta M, Cone, Roger, Li, Bingshan, Sleiman, Patrick A, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, and Hakonarson, Hakon

Subjects
Biological Sciences, Mathematical Sciences, Genetics, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group
Abstract

A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.

Published
2017

2. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Author

Li, Dong, Chang, Xiao, Connolly, John J, Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J, Robinson, Nora, Abrams, Debra, Li, Yun R, Bradfield, Jonathan P, Kim, Cecilia E, Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D, Thomas, Kelly A, Chiavacci, Rosetta M, Cone, Roger, Li, Bingshan, Sleiman, Patrick A, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, and Hakonarson, Hakon

Subjects
Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group
Abstract

We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.

Published
2017

3. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Author

Lanktree, Matthew B, Guo, Yiran, Murtaza, Muhammed, Glessner, Joseph T, Bailey, Swneke D, Onland-Moret, N Charlotte, Lettre, Guillaume, Ongen, Halit, Rajagopalan, Ramakrishnan, Johnson, Toby, Shen, Haiqing, Nelson, Christopher P, Klopp, Norman, Baumert, Jens, Padmanabhan, Sandosh, Pankratz, Nathan, Pankow, James S, Shah, Sonia, Taylor, Kira, Barnard, John, Peters, Bas J, Maloney, Cliona M, Lobmeyer, Maximilian T, Stanton, Alice, Zafarmand, M Hadi, Romaine, Simon PR, Mehta, Amar, van Iperen, Erik PA, Gong, Yan, Price, Tom S, Smith, Erin N, Kim, Cecilia E, Li, Yun R, Asselbergs, Folkert W, Atwood, Larry D, Bailey, Kristian M, Bhatt, Deepak, Bauer, Florianne, Behr, Elijah R, Bhangale, Tushar, Boer, Jolanda MA, Boehm, Bernhard O, Bradfield, Jonathan P, Brown, Morris, Braund, Peter S, Burton, Paul R, Carty, Cara, Chandrupatla, Hareesh R, Chen, Wei, Connell, John, Dalgeorgou, Chrysoula, de Boer, Anthonius, Drenos, Fotios, Elbers, Clara C, Fang, James C, Fox, Caroline S, Frackelton, Edward C, Fuchs, Barry, Furlong, Clement E, Gibson, Quince, Gieger, Christian, Goel, Anuj, Grobbee, Diederik E, Hastie, Claire, Howard, Philip J, Huang, Guan-Hua, Johnson, W Craig, Li, Qing, Kleber, Marcus E, Klein, Barbara EK, Klein, Ronald, Kooperberg, Charles, Ky, Bonnie, LaCroix, Andrea, Lanken, Paul, Lathrop, Mark, Li, Mingyao, Marshall, Vanessa, Melander, Olle, Mentch, Frank D, Meyer, Nuala J, Monda, Keri L, Montpetit, Alexandre, Murugesan, Gurunathan, Nakayama, Karen, Nondahl, Dave, Onipinla, Abiodun, Rafelt, Suzanne, Newhouse, Stephen J, Otieno, F George, Patel, Sanjey R, Putt, Mary E, Rodriguez, Santiago, Safa, Radwan N, Sawyer, Douglas B, Schreiner, Pamela J, Simpson, Claire, Sivapalaratnam, Suthesh, Srinivasan, Sathanur R, and Suver, Christine

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Adult, Black or African American, Asian People, Body Height, Cardiovascular System, Female, Gene Frequency, Genetic Heterogeneity, Genetic Loci, Genome-Wide Association Study, Hispanic or Latino, Humans, Interleukin-11, Male, Polymorphism, Single Nucleotide, Smad3 Protein, White People, Hugh Watkins on behalf of PROCARDIS, Meena Kumari on behalf of the Whitehall II Study and the WHII 50K Group, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10(-6)), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10(-8)). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10(-11)). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait.

Published
2011

4. Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival

Author

Kim, Daniel Seung, Kim, Jerry H., Burt, Amber A., Crosslin, David R., Burnham, Nancy, Kim, Cecilia E., McDonald-McGinn, Donna M., Zackai, Elaine H., Nicolson, Susan C., Spray, Thomas L., Stanaway, Ian B., Nickerson, Deborah A., Heagerty, Patrick J., Hakonarson, Hakon, Gaynor, J. William, and Jarvik, Gail P.

Published
2016
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5. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

Author

Falk, Marni J., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Lasorsa, Francesco M., Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D., Chiavacci, Rosetta, Liang, Jinlong, Liu, Xuanzhu, Jiang, Hui, Giannuzzi, Giulia, Marsh, Eric D., Yiran, Guo, Tian, Lifeng, Palmieri, Ferdinando, Hakonarson, Hakon, Zschocke, Johannes, Editor-in-chief, Gibson, K Michael, Editor-in-chief, Gibson, K. Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor

Published
2014
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6. Rare variants at 16p11.2 are associated with common variable immunodeficiency

Author

Maggadottir, S. Melkorka, Li, Jin, Glessner, Joseph T., Li, Yun Rose, Wei, Zhi, Chang, Xiao, Mentch, Frank D., Thomas, Kelly A., Kim, Cecilia E., Zhao, Yan, Hou, Cuiping, Wang, Fengxiang, Jørgensen, Silje F., Perez, Elena E., Sullivan, Kathleen E., Orange, Jordan S., Karlsen, Tom H., Chapel, Helen, Cunningham-Rundles, Charlotte, and Hakonarson, Hakon

Published
2015
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7. Phenotype Specific Association of the TGFBR3 Locus with Nonsyndromic Cryptorchidism

Author

Barthold, Julia S., Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzalez, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Mateson, Abigail B., Robbins, Alan K., Li, Jin, Akins, Robert E., Jr., Hakonarson, Hakon, and Devoto, Marcella

Published
2015
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8. Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

Author

Saxena, Richa, Elbers, Clara C., Guo, Yiran, Peter, Inga, Gaunt, Tom R., Mega, Jessica L., Lanktree, Matthew B., Tare, Archana, Castillo, Berta Almoguera, Li, Yun R., Johnson, Toby, Bruinenberg, Marcel, Gilbert-Diamond, Diane, Rajagopalan, Ramakrishnan, Voight, Benjamin F., Balasubramanyam, Ashok, Barnard, John, Bauer, Florianne, Baumert, Jens, Bhangale, Tushar, Böhm, Bernhard O., Braund, Peter S., Burton, Paul R., Chandrupatla, Hareesh R., Clarke, Robert, Cooper-DeHoff, Rhonda M., Crook, Errol D., Davey-Smith, George, Day, Ian N., de Boer, Anthonius, de Groot, Mark C.H., Drenos, Fotios, Ferguson, Jane, Fox, Caroline S., Furlong, Clement E., Gibson, Quince, Gieger, Christian, Gilhuijs-Pederson, Lisa A., Glessner, Joseph T., Goel, Anuj, Gong, Yan, Grant, Struan F.A., Grobbee, Diederick E., Hastie, Claire, Humphries, Steve E., Kim, Cecilia E., Kivimaki, Mika, Kleber, Marcus, Meisinger, Christa, Kumari, Meena, Langaee, Taimour Y., Lawlor, Debbie A., Li, Mingyao, Lobmeyer, Maximilian T., Maitland-van der Zee, Anke-Hilse, Meijs, Matthijs F.L., Molony, Cliona M., Morrow, David A., Murugesan, Gurunathan, Musani, Solomon K., Nelson, Christopher P., Newhouse, Stephen J., O'Connell, Jeffery R., Padmanabhan, Sandosh, Palmen, Jutta, Patel, Sanjey R., Pepine, Carl J., Pettinger, Mary, Price, Thomas S., Rafelt, Suzanne, Ranchalis, Jane, Rasheed, Asif, Rosenthal, Elisabeth, Ruczinski, Ingo, Shah, Sonia, Shen, Haiqing, Silbernagel, Günther, Smith, Erin N., Spijkerman, Annemieke W.M., Stanton, Alice, Steffes, Michael W., Thorand, Barbara, Trip, Mieke, van der Harst, Pim, van der A, Daphne L., van Iperen, Erik P.A., van Setten, Jessica, van Vliet-Ostaptchouk, Jana V., Verweij, Niek, Wolffenbuttel, Bruce H.R., Young, Taylor, Zafarmand, M. Hadi, Zmuda, Joseph M., Boehnke, Michael, Altshuler, David, McCarthy, Mark, Kao, W.H. Linda, Pankow, James S., Cappola, Thomas P., Sever, Peter, Poulter, Neil, Caulfield, Mark, Dominiczak, Anna, Shields, Denis C., Bhatt, Deepak L., Zhang, Li, Curtis, Sean P., Danesh, John, Casas, Juan P., van der Schouw, Yvonne T., Onland-Moret, N. Charlotte, Doevendans, Pieter A., Dorn, Gerald W., II, Farrall, Martin, FitzGerald, Garret A., Hamsten, Anders, Hegele, Robert, Hingorani, Aroon D., Hofker, Marten H., Huggins, Gordon S., Illig, Thomas, Jarvik, Gail P., Johnson, Julie A., Klungel, Olaf H., Knowler, William C., Koenig, Wolfgang, März, Winfried, Meigs, James B., Melander, Olle, Munroe, Patricia B., Mitchell, Braxton D., Bielinski, Susan J., Rader, Daniel J., Reilly, Muredach P., Rich, Stephen S., Rotter, Jerome I., Saleheen, Danish, Samani, Nilesh J., Schadt, Eric E., Shuldiner, Alan R., Silverstein, Roy, Kottke-Marchant, Kandice, Talmud, Philippa J., Watkins, Hugh, Asselbergs, Folkert W., de Bakker, Paul I.W., McCaffery, Jeanne, Wijmenga, Cisca, Sabatine, Marc S., Wilson, James G., Reiner, Alex, Bowden, Donald W., Hakonarson, Hakon, Siscovick, David S., and Keating, Brendan J.

Published
2012
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9. Strong synaptic transmission impact by copy number variations in schizophrenia

Author

Glessner, Joseph T., Reilly, Muredach P., Kim, Cecilia E., Takahashi, Nagahide, Albano, Anthony, Hou, Cuiping, Bradfield, Jonathan P., Zhang, Haitao, Sleiman, Patrick M. A., Flory, James H., Imielinski, Marcin, Frackelton, Edward C., Chiavacci, Rosetta, Thomas, Kelly A., Garris, Maria, Otieno, Frederick G., Davidson, Michael, Weiser, Mark, Reichenberg, Abraham, Davis, Kenneth L., Friedman, Joseph I., Cappola, Thomas P., Margulies, Kenneth B., Rader, Daniel J., Grant, Struan F. A., Buxbaum, Joseph D., Gur, Raquel E., Hakonarson, Hakon, and Lupski, James R.

Published
2010

12. Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions

Author

Barthold, Julia Spencer, Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzaléz, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Li, Jin, Hakonarson, Hakon, and Devoto, Marcella

Published
2015
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15. Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate

Author

Falk, Marni J., primary, Li, Dong, additional, Gai, Xiaowu, additional, McCormick, Elizabeth, additional, Place, Emily, additional, Lasorsa, Francesco M., additional, Otieno, Frederick G., additional, Hou, Cuiping, additional, Kim, Cecilia E., additional, Abdel-Magid, Nada, additional, Vazquez, Lyam, additional, Mentch, Frank D., additional, Chiavacci, Rosetta, additional, Liang, Jinlong, additional, Liu, Xuanzhu, additional, Jiang, Hui, additional, Giannuzzi, Giulia, additional, Marsh, Eric D., additional, Guo, Yiran, additional, Tian, Lifeng, additional, Palmieri, Ferdinando, additional, and Hakonarson, Hakon, additional

Published
2014
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16. A genome-wide study reveals copy number variants exclusive to childhood obesity cases

Author

Glessner, Joseph T., Bradfield, Jonathan P., Kai Wang, Takahashi, Nagahide, Haitao Zhang, Sleiman, Patrick M., Mentch, Frank D., Kim, Cecilia E., Cuiping Hou, Thomas, Kelly A., Garris, Maria L., Deliard, Sandra, Frackelton, Edward C., Otieno, F. George, Jainhua Zhao, Chiavacci, Rosetta M., Mingyao Li, Buxbaum, Joseph D., Berkowitz, Robert I., Hakonarson, Hakon, and Grant, Struan F.A.

Subjects
Obesity in children -- Genetic aspects, Obesity in children -- Demographic aspects, Single nucleotide polymorphisms -- Analysis, Biological sciences
Abstract

A whole-genome copy number variations (CNV) study in a large cohort of child hood-obesity cases and lean controls of European ancestry who were genotyped with the Illumina Infinium II HumanHap550K BeadChip was performed to examine the CNVs in a large pediatric cohort presenting with common obesity that is primarily nonsyndromic. The results indicated that CNVs contributed to the genetic susceptibility of common childhood obesity in subjects of both European and African ancestry.

Published
2010

17. Variants of DENND1B associated with asthma in children

Author

Sleiman, Patrick M.A., Flory, James, Imielinski, Marcin, Bradfield, Jonathan P., Annaiah, Kiran, Willis-Owen, Saffron A.G., Kai Wang, Rafaels, Nicholas M., Michel, Sven, Bonnelykke, Klaus, Haitao Zhang, Kim, Cecilia E., Frackelton, Edward C., Glessner, Joseph T., Cuiping Hou, Otieno, F. George, Santa, Erin, Thomas, Kelly, Smith, Ryan M., Glaberson, Wendy R., Garris, Maria, Chiavacci, Rosetta M., Beaty, Terri H., Ruczinski, Ingo, Orange, Jordan M., Allen, Julian, Spergel, Jonathan M., Grundmeier, Robert, Mathias, Rasika A., Christie, Jason D., von Mutius, Erika, Cookson, WIlliam O.C., Kabesch, Michael, Moffatt, Miriam F., Grunstein, Michael M., Barnes, Kathleen C., Devoto, Marcella, Magnusson, Mark, Hongzhe Li, Grant, Struan F.A., Bisgaard, Hans, and Hakonarson, Hakon

Subjects
Asthma in children -- Genetic aspects, Corticosteroids -- Usage, Single nucleotide polymorphisms -- Analysis
Abstract

A study was conducted to evaluate whether variants of DENND1B locus may influence the onset of asthma in children. Results have indicated that the locus DENND1B is associated with susceptibility to asthma.

Published
2009

18. Common genetic variants on 5p14.1 associate with autism spectrum disorders

Author

Wang, Kai, Zhang, Haitao, Ma, Deqiong, Bucan, Maja, Glessner, Joseph T., Abrahams, Brett S., Salyakina, Daria, Imielinski, Marcin, Bradfield, Jonathan P., Sleiman, Patrick M.A., Kim, Cecilia E., Hou, Cuiping, Frackelton, Edward, Chiavacci, Rosetta, Takahashi, Nagahide, Sakurai, Takeshi, Rappaport, Eric, Lajonchere, Clara M., Munson, Jeffrey, Estes, Annette, Korvatska, Olena, Piven, Joseph, Sonnenblick, Lisa I., Retuerto, Ana I. Alvarez, Herman, Edward I., Hutman, Ted, Sigman, Marian, Ozonoff, Sally, Klin, Ami, Owley, Thomas, Sweeney, John A., Brune, Camille W., Cantor, Rita M., Bernier, Raphael, Gilbert, John R., Cuccaro, Michael L., McMahon, William M., Miller, Judith, State, Matthew W., Wassink, Thomas H., Coon, Hilary, Levy, Susan E., Schult, Robert T., Nurnberger, John I. Jr., Haines, Jonathan L., Sutcliffe, James S., Cook, Edwin H., Minshew, Nancy J., Buxbaums, Joseph D., Dawson, Geraldine, Grant, Struan F.A., Geschwind, Daniel H., Pericak-Vance, Margaret A., Schellenberg, Gerard D., and Hakonarson, Hakon

Subjects
Pervasive developmental disorders -- Genetic aspects -- Risk factors, Genetic research -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Genetic aspects, Risk factors
Abstract

Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 X [10.sup.-8], odds ratio =1.19). These signals were replicated in two independent cohorts, with combined Pvalues ranging from 7.4 X [10.sup.-8] to 2.1 X [10.sup.-10]. Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs., ASDs encompass a range of clinically defined conditions, including autism and pervasive developmental disorder not otherwise specified, which are more common and severe, as well as Asperger's syndrome, which appears [...]

Published
2009

19. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Author

Wang, Kai, Cai, Guiqing, Korvatska, Olena, Kim, Cecilia E., Wood, Shawn, Zhang, Haitao, Estes, Annette, Brune, Camille W., Bradfield, Jonathan P., Imielinski, Marcin, Frackelton, Edward C., Reichert, Jennifer, Crawford, Emily L., Munson, Jeffrey, Sleiman, Patrick M.A., Chiavacci, Rosetta, Annaiah, Kiran, Thomas, Kelly, Hou, Cuiping, Glaberson, Wendy, Flory, James, Otieno, Frederick, Garris, Maria, Soorya, Latha, Klei, Lambertus, Piven, Joseph, Meyer, Kacie J., Anagnostou, Evdokia, Sakurai, Takeshi, Game, Rachel M., Rudd, Danielle S., Zurawiecki, Danielle, McDouglelo, Christopher J., Davis, Lea K., Miller, Judith, Posey, David J., Michaels, Shana, Kolevzon, Alexander, Silverman, Jeremy M., Bernier, Raphael, Levy, Susan E., Schultz, Robert T., Dawson, Geraldine, Owleys, Thomas, McMahon, William M., Wassink, Thomas H., Sweeney, John A., Nurnberger, Jr., John I., Coon, Hilary, Sutcliffe, James S., Minshew, Nancy J., Grant, Struan F.A., Bucan, Maja, Cook, Jr., Edwin H., Buxbaum, Joseph D., Devlin, Bernie D., Schellenberg, Gerard D., and Hakonarson, Hakon

Subjects
Neurons -- Properties -- Genetic aspects, Ubiquitin -- Properties -- Genetic aspects, Autism -- Genetic aspects, Environmental issues, Science and technology, Zoology and wildlife conservation, Genetic aspects, Properties
Abstract

Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins(1-4). Previous studies focusing on candidate genes or genomic regions have identified several copy number variations (CNVs) that are associated with an increased risk of ASDs(5-9). Here we present the results from a whole-genome CNV study on a cohort of 859 ASD cases and 1,409 healthy children of European ancestry who were genotyped with 550,000 single nucleotide polymorphism markers, in an attempt to comprehensively identify CNVs conferring susceptibility to ASDs. Positive findings were evaluated in an independent cohort of 1,336 ASD cases and 1,110 controls of European ancestry. Besides previously reported ASD candidate genes, such as NRXNI (ref. 10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGNI and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x [10.sup.-3]). Furthermore, CNVs within or surrounding genes involved in the ubiquitin pathways, including UBE3A, PARKZ RFWD2 and FBX040, were affected by CNVs not observed in controls (P= 3.3 x [10.sup.-3]). We also identified duplications 55 kilobases upstream of complementary DNA AK123120 (P=3.6 x [10.sup.-6]). Although these variants may be individually rare, they target genes involved in neuronal cell-adhesion or ubiquitin degradation, indicating that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD., ASDs, including autism, are neurodevelopmental disorders characterized by impairments in social and communication skills, as well as stereotyped and repetitive behaviours and/or a restricted range of interests. Current prevalence estimates [...]

Published
2009

20. Association of Variants of the Interleukin-23 Receptor Gene With Susceptibility to Pediatric Crohn’s Disease

Author

Baldassano, Robert N., Bradfield, Jonathan P., Monos, Dimitri S., Kim, Cecilia E., Glessner, Joseph T., Casalunovo, Tracy, Frackelton, Edward C., Otieno, F. George, Kanterakis, Stathis, Shaner, Julie L., Smith, Ryan M., Eckert, Andrew W., Robinson, Luke J., Onyiah, Chioma C., Abrams, Debra J., Chiavacci, Rosetta M., Skraban, Robert, Devoto, Marcella, Grant, Struan F.A., and Hakonarson, Hakon

Published
2007
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22. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis

Author

Couthouis, Julien, Hart, Michael P., Erion, Renske, King, Oliver D., Diaz, Zamia, Nakaya, Tadashi, Ibrahim, Fadia, Kim, Hyung-Jun, Mojsilovic-Petrovic, Jelena, Panossian, Saarene, Kim, Cecilia E., Frackelton, Edward C., Solski, Jennifer A., Williams, Kelly L., Clay-Falcone, Dana, Elman, Lauren, McCluskey, Leo, Greene, Robert, Hakonarson, Hakon, Kalb, Robert G., Lee, Virginia M.Y., Trojanowski, John Q., Nicholson, Garth A., Blair, Ian P., Bonini, Nancy M., Van Deerlin, Vivianna M., Mourelatos, Zissimos, Shorter, James, and Gitler, Aaron D.

Published
2012
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24. Variants of DENND1B Associated with Asthma in Children

Author

Sleiman, Patrick M.A., Flory, James, Imielinski, Marcin, Bradfield, Jonathan P., Annaiah, Kiran, Willis-Owen, Saffron A.G., Wang, Kai, Rafaels, Nicholas M., Michel, Sven, Bonnelykke, Klaus, Zhang, Haitao, Kim, Cecilia E., Frackelton, Edward C., Glessner, Joseph T., Hou, Cuiping, Otieno, George F., Santa, Erin, Thomas, Kelly, Smith, Ryan M., Glaberson, Wendy R., Garris, Maria, Chiavacci, Rosetta M., Beaty, Terri H., Ruczinski, Ingo, Orange, Jordan M., Allen, Julian, Spergel, Jonathan M., Grundmeier, Robert, Mathias, Rasika A., Christie, Jason D., von Mutius, Erika, Cookson, William O.C., Kabesch, Michael, Moffatt, Miriam F., Grunstein, Michael M., Barnes, Kathleen C., Devoto, Marcella, Magnusson, Mark, Li, Hongzhe, Grant, Struan F.A., Bisgaard, Hans, and Hakonarson, Hakon

Published
2010
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25. Examination of Type 2 Diabetes Loci Implicates CDKAL1 as a Birth Weight Gene

Author

Zhao, Jianhua, Li, Mingyao, Bradfield, Jonathan P., Wang, Kai, Zhang, Haitao, Sleiman, Patrick, Kim, Cecilia E., Annaiah, Kiran, Glaberson, Wendy, Glessner, Joseph T., Otieno, F. George, Thomas, Kelly A., Garris, Maria, Hou, Cuiping, Frackelton, Edward C., Chiavacci, Rosetta M., Berkowitz, Robert I., Hakonarson, Hakon, and Grant, Struan F.A.

Published
2009

26. 17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry

Author

Flory, James H., Sleiman, Patrick M., Christie, Jason D., Annaiah, Kiran, Bradfield, Jonathan, Kim, Cecilia E., Glessner, Joseph, Imielinski, Marcin, Li, Hongzhe, Frackelton, Edward C., Cuiping, Hou, Otieno, George, Thomas, Kelly, Smith, Ryan, Glaberson, Wendy, Garris, Maria, Chiavacci, Rosetta, Allen, Julian, Spergel, Jonathan, Grundmeier, Robert, Grunstein, Michael, Magnusson, Michael, Grant, Struan F.A., Bønnelykke, Klaus, Bisgaard, Hans, and Hakonarson, Hakon

Published
2009

27. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

Author

Glessner, Joseph T., Wang, Kai, Cai, Guiqing, Korvatska, Olena, Kim, Cecilia E., Wood, Shawn, Zhang, Haitao, Estes, Annette, Brune, Camille W., Bradfield, Jonathan P., Imielinski, Marcin, Frackelton, Edward C., Reichert, Jennifer, Crawford, Emily L., Munson, Jeffrey, Sleiman, Patrick M. A., Chiavacci, Rosetta, Annaiah, Kiran, Thomas, Kelly, Hou, Cuiping, Glaberson, Wendy, Flory, James, Otieno, Frederick, Garris, Maria, Soorya, Latha, Klei, Lambertus, Piven, Joseph, Meyer, Kacie J., Anagnostou, Evdokia, Sakurai, Takeshi, Game, Rachel M., Rudd, Danielle S., Zurawiecki, Danielle, McDougle, Christopher J., Davis, Lea K., Miller, Judith, Posey, David J., Michaels, Shana, Kolevzon, Alexander, Silverman, Jeremy M., Bernier, Raphael, Levy, Susan E., Schultz, Robert T., Dawson, Geraldine, Owley, Thomas, McMahon, William M., Wassink, Thomas H., Sweeney, John A., Nurnberger, John I., Coon, Hilary, Sutcliffe, James S., Minshew, Nancy J., Grant, Struan F. A., Bucan, Maja, Cook, Edwin H., Buxbaum, Joseph D., Devlin, Bernie, Schellenberg, Gerard D., and Hakonarson, Hakon

Published
2009
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28. Follow-Up Analysis of Genome-Wide Association Data Identifies Novel Loci for Type 1 Diabetes

Author

Grant, Struan F.A., Qu, Hui-Qi, Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Taback, Shayne P., Frackelton, Edward C., Eckert, Andrew W., Annaiah, Kiran, Lawson, Margaret L., Otieno, F. George, Santa, Erin, Shaner, Julie L., Smith, Ryan M., Skraban, Robert, Imielinski, Marcin, Chiavacci, Rosetta M., Grundmeier, Robert W., Stanley, Charles A., Kirsch, Susan E., Waggott, Daryl, Paterson, Andrew D., Monos, Dimitri S., Polychronakos, Constantin, and Hakonarson, Hakon

Published
2009

29. ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry

Author

Sleiman, Patrick M.A., Annaiah, Kiran, Imielinski, Marcin, Bradfield, Jonathan P., Kim, Cecilia E., Frackelton, Edward C., Glessner, Joseph T., Eckert, Andrew W., Otieno, George F., Santa, Erin, Thomas, Kelly, Smith, Ryan M., Glaberson, Wendy, Garris, Maria, Gunnlaugsson, Sigfus, Chiavacci, Rosetta M., Allen, Julian, Spergel, Jonathan, Grundmeier, Robert, Grunstein, Michael M., Magnusson, Mark, Bisgaard, Hans, Grant, Struan F.A., and Hakonarson, Hakon

Published
2008

31. A Novel Susceptibility Locus for Type 1 Diabetes on Chr12q13 Identified by a Genome-Wide Association Study

Author

Hakonarson, Hakon, Qu, Hui-Qi, Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Casalunovo, Tracy, Taback, Shayne P., Frackelton, Edward C., Eckert, Andrew W., Annaiah, Kiran, Lawson, Margaret L., Otieno, F. George, Santa, Erin, Shaner, Julie L., Smith, Ryan M., Onyiah, Chioma C., Skraban, Robert, Chiavacci, Rosetta M., Robinson, Luke J., Stanley, Charles A., Kirsch, Susan E., Devoto, Marcella, Monos, Dimitri S., Grant, Struan F.A., and Polychronakos, Constantin

Published
2008

32. A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene

Author

Hakonarson, Hakon, Grant, Struan F. A., Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Casalunovo, Tracy, Taback, Shayne P., Frackelton, Edward C., Lawson, Margaret L., Robinson, Luke J., Skraban, Robert, Lu, Yang, Chiavacci, Rosetta M., Stanley, Charles A., Kirsch, Susan E., Rappaport, Eric F., Orange, Jordan S., Monos, Dimitri S., Devoto, Marcella, Qu, Hui-Qi, and Polychronakos, Constantin

Published
2007
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33. Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn’s disease

Author

Baldassano, Robert N, Bradfield, Jonathan P, Monos, Dimitri S, Kim, Cecilia E, Glessner, Joseph T, Casalunovo, Tracy, Frackelton, Edward C, Otieno, F George, Kanterakis, Stathis, Shaner, Julie L, Smith, Ryan M, Eckert, Andrew W, Robinson, Luke J, Onyiah, Chioma C, Abrams, Debra J, Chiavacci, Rosetta M, Skraban, Robert, Devoto, Marcella, Grant, Struan F A, and Hakonarson, Hakon

Published
2007

34. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

Author

Frackelton Edward C, Deliard Sandra, Garris Maria L, Thomas Kelly A, Keating Brendan J, Hou Cuiping, Glessner Joseph T, Kim Cecilia E, Sleiman Patrick M, Wang Kai, Mentch Frank D, Zhang Haitao, Bradfield Jonathan P, Li Mingyao, Zhao Jianhua, Otieno F George, Chiavacci Rosetta M, Berkowitz Robert I, Hakonarson Hakon, and Grant Struan FA

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Human height is considered highly heritable and correlated with certain disorders, such as type 2 diabetes and cancer. Despite environmental influences, genetic factors are known to play an important role in stature determination. A number of genetic determinants of adult height have already been established through genome wide association studies. Methods To examine 51 single nucleotide polymorphisms (SNPs) corresponding to the 46 previously reported genomic loci for height in 8,184 European American children with height measurements. We leveraged genotyping data from our ongoing GWA study of height variation in children in order to query the 51 SNPs in this pediatric cohort. Results Sixteen of these SNPs yielded at least nominally significant association to height, representing fifteen different loci including EFEMP1-PNPT1, GPR126, C6orf173, SPAG17, Histone class 1, HLA class III and GDF5-UQCC. Other loci revealed no evidence for association, including HMGA1 and HMGA2. For the 16 associated variants, the genotype score explained 1.64% of the total variation for height z-score. Conclusion Among 46 loci that have been reported to associate with adult height to date, at least 15 also contribute to the determination of height in childhood.

Published
2010
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35. First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes

Author

Cousminer, Diana L., Ahlqvist, Emma, Mishra, Rajashree, Andersen, Mette K., Chesi, Alessandra, Hawa, Mohammad I., Davis, Asa, Hodge, Kenyaita M., Bradfield, Jonathan P., Zhou, Kaixin, Guy, Vanessa C., Akerlund, Mikael, Wod, Mette, Fritsche, Lars G., Vestergaard, Henrik, Snyder, James, Højlund, Kurt, Linneberg, Allan, Karajamaki, Annemari, Brandslund, Ivan, Kim, Cecilia E., Witte, Daniel, Sorgjerd, Elin Pettersen, Brillon, David J., Pedersen, Oluf, Beck-Nielsen, Henning, Grarup, Niels, Pratley, Richard E., Rickels, Michael R., Vella, Adrian, Ovalle, Fernando, Melander, Olle, Harris, Ronald I., Varvel, Stephen, Grill, Valdemar E. R., Hakonarson, Hakon, Froguel, Philippe, Lonsdale, John T., Mauricio, Didac, Schloot, Nanette C., Khunti, Kamlesh, Greenbaum, Carla J., Asvold, Bjorn Olav, Yderstraede, Knud B., Pearson, Ewan R., Schwartz, Stanley, Voight, Benjamin F., Hansen, Torben, Tuomi, Tiinamaija, Boehm, Bernhard O., Groop, Leif, Leslie, R. David, Grant, Struan F. A., Cousminer, Diana L., Ahlqvist, Emma, Mishra, Rajashree, Andersen, Mette K., Chesi, Alessandra, Hawa, Mohammad I., Davis, Asa, Hodge, Kenyaita M., Bradfield, Jonathan P., Zhou, Kaixin, Guy, Vanessa C., Akerlund, Mikael, Wod, Mette, Fritsche, Lars G., Vestergaard, Henrik, Snyder, James, Højlund, Kurt, Linneberg, Allan, Karajamaki, Annemari, Brandslund, Ivan, Kim, Cecilia E., Witte, Daniel, Sorgjerd, Elin Pettersen, Brillon, David J., Pedersen, Oluf, Beck-Nielsen, Henning, Grarup, Niels, Pratley, Richard E., Rickels, Michael R., Vella, Adrian, Ovalle, Fernando, Melander, Olle, Harris, Ronald I., Varvel, Stephen, Grill, Valdemar E. R., Hakonarson, Hakon, Froguel, Philippe, Lonsdale, John T., Mauricio, Didac, Schloot, Nanette C., Khunti, Kamlesh, Greenbaum, Carla J., Asvold, Bjorn Olav, Yderstraede, Knud B., Pearson, Ewan R., Schwartz, Stanley, Voight, Benjamin F., Hansen, Torben, Tuomi, Tiinamaija, Boehm, Bernhard O., Groop, Leif, Leslie, R. David, and Grant, Struan F. A.

Published
2018

36. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling (Scientific Reports (2017) 7 (3847) DOI: 10.1038/s41598-017-01674-8)

Author

Dong, Li, Chang, Xiao, Connolly, John J, Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J, Robinson, Nora, Abrams, Debra, Yun R, Li, Bradfield, Jonathan P, Kim, Cecilia E, Jin, Li, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D, Thomas, Kelly A, Chiavacci, Rosetta M, Cone, Roger, Bingshan, Li, Sleiman, Patrick A, Hakonarson, Hakon, and Tortorella, A

Subjects
Multidisciplinary
Published
2017

37. Warrantless searches and seizures.

Author

Kim, Cecilia E., Samsel, Jennifer N., Hernand, David Mark, Loughlin, Charles A., and Gerber, Marc S.

Subjects
Searches and seizures -- Cases, Warrants (Law) -- Cases
Published
1992

38. Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects

Author

Hu, Ray, primary, Morley, Michael P., additional, Brandimarto, Jeffrey, additional, Tucker, Nathan R., additional, Parsons, Victoria A., additional, Zhao, Sihai D., additional, Meder, Benjamin, additional, Katus, Hugo A., additional, Rühle, Frank, additional, Stoll, Monika, additional, Villard, Eric, additional, Cambien, François, additional, Lin, Honghuang, additional, Smith, Nicholas L., additional, Felix, Janine F., additional, Vasan, Ramachandran S., additional, van der Harst, Pim, additional, Newton-Cheh, Christopher, additional, Li, Jin, additional, Kim, Cecilia E., additional, Hakonarson, Hakon, additional, Hannenhalli, Sridhar, additional, Ashley, Euan A., additional, Moravec, Christine S., additional, Tang, W.H. Wilson, additional, Maillet, Marjorie, additional, Molkentin, Jeffery D., additional, Ellinor, Patrick T., additional, Margulies, Kenneth B., additional, and Cappola, Thomas P, additional

Published
2018
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39. Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa

Author

Vahidnezhad, Hassan, primary, Youssefian, Leila, additional, Saeidian, Amir Hossein, additional, Zeinali, Sirous, additional, Touati, Andrew, additional, Abiri, Maryam, additional, Sotoudeh, Soheila, additional, Norouz‐zadeh, Sara, additional, Amirinezhad, Niloufar, additional, Mozafari, Nikoo, additional, Daneshpazhooh, Maryam, additional, Mahmoudi, Hamidreza, additional, Hamid, Mohammad, additional, Bradfield, Jonathan P., additional, Kim, Cecilia E., additional, Hakonarson, Hakon, additional, and Uitto, Jouni, additional

Published
2018
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40. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Author

TN groep Adan, Brain, Circulatory Health, Translational Neuroscience, Genetica Groep Koeleman, Child Health, Onderzoek, Pathologie, AIOS Psychiatrie, Li, Dong, Chang, Xiao, Connolly, John J., Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J., Robinson, Nora, Abrams, Debra, Li, Yun R., Bradfield, Jonathan P., Kim, Cecilia E., Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D., Thomas, Kelly A., Chiavacci, Rosetta M., Cone, Roger, Li, Bingshan, Sleiman, Patrick A., Hakonarson, Hakon, Perica, Vesna Boraska, Franklin, Christopher S., Floyd, James A.B., Thornton, Laura M., Huckins, Laura M., Southam, Lorraine, Rayner, William N, Tachmazidou, Ioanna, Schmidt, Ulrike, Tozzi, Federica, Kiezebrink, Kirsty, Hebebrand, Johannes, Gorwood, Philip, Adan, Roger A.H., Kas, Martien J.H., Favaro, Angela, Santonastaso, Paolo, Fernánde-Aranda, Fernando, Gratacos, Monica, Rybakowski, Filip, Dmitrzak-Weglarz, Monika, Kaprio, Jaakko, Keski-Rahkonen, Anna, Raevuori-Helkamaa, Anu, Furth, Eric F.Van, Slof-Opt Landt, Margarita C.T., Hudson, James I., Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S., Monteleone, Palmiero, Karwautz, Andreas, Berrettini, Wade H., Schork, Nicholas J., Ando, Tetsuya, Inoko, Hidetoshi, Esko, Toñu, Fischer, Krista, Männik, Katrin, Metspalu, Andres, Baker, Jessica H., DeSocio, Janiece E., Hilliard, Christopher E., O'Toole, Julie K., Pantel, Jacques, Szatkiewicz, Jin P., Zerwas, Stephanie, Davis, Oliver S P, Helder, Sietske, Bühren, Katharina, Burghardt, Roland, De Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, André, Zipfel, Stephan, Boni, Claudette, Ramoz, Nicolas, Versini, Audrey, Danner, Unna N., Hendriks, Judith, Koeleman, Bobby P.C., Ophoff, Roel A., Strengman, Eric, van Elburg, Annemarie A., Bruson, Alice, Clementi, Maurizio, Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, Elisa, Escaramís, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P. Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, DIkeos, DImitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, DIck, Danielle M., Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J, Reinvang, Ivar, Steen, Vidar M., Le Hellard, Stephanie, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen W., Aschauer, Harald, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Barrett, Jeff C., Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F, Zeggini, Eleftheria, Bulik, Cynthia M., Brandt, Harry, Crawford, Steve, Crow, Scott, Fichter, Manfred M., Halmi, Katherine A., Johnson, Craig, Kaplan, Allan S., La Via, Maria C., Mitchell, James R., Strober, Michael, Rotondo, Alessandro, Treasure, Janet, Woodside, D. Blake, Keel, Pamela K., Klump, Kelly L., Lilenfeld, Lisa, Bergen, Andrew W., Kaye, Walter, Magistretti, Pierre, TN groep Adan, Brain, Circulatory Health, Translational Neuroscience, Genetica Groep Koeleman, Child Health, Onderzoek, Pathologie, AIOS Psychiatrie, Li, Dong, Chang, Xiao, Connolly, John J., Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J., Robinson, Nora, Abrams, Debra, Li, Yun R., Bradfield, Jonathan P., Kim, Cecilia E., Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D., Thomas, Kelly A., Chiavacci, Rosetta M., Cone, Roger, Li, Bingshan, Sleiman, Patrick A., Hakonarson, Hakon, Perica, Vesna Boraska, Franklin, Christopher S., Floyd, James A.B., Thornton, Laura M., Huckins, Laura M., Southam, Lorraine, Rayner, William N, Tachmazidou, Ioanna, Schmidt, Ulrike, Tozzi, Federica, Kiezebrink, Kirsty, Hebebrand, Johannes, Gorwood, Philip, Adan, Roger A.H., Kas, Martien J.H., Favaro, Angela, Santonastaso, Paolo, Fernánde-Aranda, Fernando, Gratacos, Monica, Rybakowski, Filip, Dmitrzak-Weglarz, Monika, Kaprio, Jaakko, Keski-Rahkonen, Anna, Raevuori-Helkamaa, Anu, Furth, Eric F.Van, Slof-Opt Landt, Margarita C.T., Hudson, James I., Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy S., Monteleone, Palmiero, Karwautz, Andreas, Berrettini, Wade H., Schork, Nicholas J., Ando, Tetsuya, Inoko, Hidetoshi, Esko, Toñu, Fischer, Krista, Männik, Katrin, Metspalu, Andres, Baker, Jessica H., DeSocio, Janiece E., Hilliard, Christopher E., O'Toole, Julie K., Pantel, Jacques, Szatkiewicz, Jin P., Zerwas, Stephanie, Davis, Oliver S P, Helder, Sietske, Bühren, Katharina, Burghardt, Roland, De Zwaan, Martina, Egberts, Karin, Ehrlich, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Imgart, Hartmut, Scherag, André, Zipfel, Stephan, Boni, Claudette, Ramoz, Nicolas, Versini, Audrey, Danner, Unna N., Hendriks, Judith, Koeleman, Bobby P.C., Ophoff, Roel A., Strengman, Eric, van Elburg, Annemarie A., Bruson, Alice, Clementi, Maurizio, Degortes, Daniela, Forzan, Monica, Tenconi, Elena, Docampo, Elisa, Escaramís, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P. Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, DIkeos, DImitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L., Levitan, Robert D., Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, DIck, Danielle M., Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A., Espeseth, Thomas, Lundervold, Astri J, Reinvang, Ivar, Steen, Vidar M., Le Hellard, Stephanie, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen W., Aschauer, Harald, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Barrett, Jeff C., Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F, Zeggini, Eleftheria, Bulik, Cynthia M., Brandt, Harry, Crawford, Steve, Crow, Scott, Fichter, Manfred M., Halmi, Katherine A., Johnson, Craig, Kaplan, Allan S., La Via, Maria C., Mitchell, James R., Strober, Michael, Rotondo, Alessandro, Treasure, Janet, Woodside, D. Blake, Keel, Pamela K., Klump, Kelly L., Lilenfeld, Lisa, Bergen, Andrew W., Kaye, Walter, and Magistretti, Pierre

Published
2017

42. The Soldier and the Animal: metaphor in maintenance of antiretroviral adherence in Ghana’s Eastern Region

Author

Akiyama, Matthew J., Napier, David, Bourque, S., Goldberg, A., Boukh-Viner, T., Gregg, C., Kyryakov, P., Chowdhury, S., Titorenko, V.I., Andrews, S.D., Ateeq, B., Torrisani, J., D’Allesio, A.C., Unterberger, A., OU, J-N, McKinney, A., Rabbani, S., Szyf, M., Berger, Robert G., Hancock, Trina, Decatanzaro, Denys, Antonova, Lilia, Mueller, Christopher R., Fong, Jenna, Bañski, Piotr, Kodiha, Mohamed, Stochaj, Ursula, Moheshwarnath, Issur, Bisaillon, Martin, Brisbin, Sarah E., Chin-Sang, Ian D., Ste-Marie, A., Simard, C., Côté, S., Fucile, S, Gisel, E, Erg, Otr, Lau, C, Bourdeau, Annie, Heinonen, Krista M., Doody, Karen M., Higgins, Emily K., Lee-Loy, Ailsa, Tremblay, Michel L., Banski, Piotr, Leduc, F., Maquennehan, V., Nkoma, G. Bikond, Boissonneault, G., Lim, Letitia Z., Hacking, S. A., Li, A., Wang, H., Harvey, E. J., Henderson, J. E., Prefontaine, D., Lajoie-Kadoch, S., Mogas, A.K., Foley, S., Olivenstein, R., Halayko, A.J., Ernst, P., Lemière, C., Martin, J.G., Hamid, Q., McKillop, W. M., Dekaban, G. A., Nguyen, Alana, Beland, Melanie, Gaitan, Yaned, Bouchard, Maxime, Behrmann, Jason, Williams-Jones, Bryn, Hakonarson, Hakon, Grant, Struan F.A., Bradfield, Jonathan P., Marchand, Luc, Kim, Cecilia E., Glessner, Joseph T., Grabs, Rosemarie, Casalunovo, Tracy, Taback, Shayne P., Frackelton, Edward C., Lawson, Margaret L., Robinson, Luke J., Capasso, Mario, Skraban, Robert, Lu, Yang, Chiavacci, Rosetta M., Stanley, Charles A., Kirsch, Susan E., Monos, Dimitri S., Devoto, Marcella, Qu, Hui-Qi, Polychronakos, Constantin, Proulx, Dominic Paquin, Lemieux, Réal, Bazin, Renée, Richard, Nathalie, Tseu, Irene, Post, Martin, Radina, M, Penner, MJ, Smith, RG, Samdup, D, Sebak, Safaa, Mirzaei, Maryam, Malhotra, Meenakshi, Kulamarva, Arun, Prakash, Satya, Tzankov, S., Bhangoo, M. K., Fan, A.C.Y., Young, J.C., Arulanandam, Rozanne, Cao, Jun, Vultur, Adina, Degeer, Jonathan, Larue, Lionel, Feracci, Hélène, Raptis, Leda, Vi, Linda, Gan, Bing Siang, O’gorman, David, Shao, W., and Saleh, M.

Subjects
cell division, implant osseo-integration, caspase-3, Bisphenol-A, heterokaryons, Ghana, Hsp70, stress, VAB-1 Eph Receptor, bone regeneration, protein folding, Rho GTPases, antibodies, implantation, adherence, oncogenic signaling, Hsc70s, polyploidy, genomic integrity, topoisomerase, fertility, shuttling, airway smooth muscle cells, Calcineurin, ADAM12, apoptosis, tyrosine kinase, cell signalling, CnABP, single-nucleotide polymorphism, developmental delay, Type 1 diabetes, cell-cell adhesion, tissue engineering, protein tyrosine phosphatase-1B, confluence, C. elegans, CSLSR Abstracts, pregnancy, interleukin 33, stretch, estrogens, RAS activation, tumour suppressor, antiretroviral therapy, DNA repair, autism, Hsp90, Dupuytren’s Disease, DAF-18/PTEN, Wilms’ tumor, intersferon-gamma, idiopathic toe walking, Hsc70, cytochrome C, megakaryocytes, metastasis, ADHD, chaperones, IGF, nucleoli, nucleolar targeting, epigenetics, uterus, Pax2, Stat3, nucleus, HIV, Krobo, illness narrative, demethylation, asthma, osteoporosis, bronchial biopsies, hematopoiesis, spermiogenesis, T cell protein tyrosine phosphatase, cadherin, blood platelet production, inflammation, genome-wide association, Abstracts from CSLSR, chromatin, accumulation, mitochondrial import
Published
2007

43. Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.

Author

Vahidnezhad, Hassan, Youssefian, Leila, Saeidian, Amir Hossein, Zeinali, Sirous, Touati, Andrew, Abiri, Maryam, Sotoudeh, Soheila, Norouz‐zadeh, Sara, Amirinezhad, Niloufar, Mozafari, Nikoo, Daneshpazhooh, Maryam, Mahmoudi, Hamidreza, Hamid, Mohammad, Bradfield, Jonathan P., Kim, Cecilia E., Hakonarson, Hakon, and Uitto, Jouni

Subjects
EPIDERMOLYSIS bullosa, MICROSATELLITE repeats, SINGLE nucleotide polymorphisms, HUMAN chromosome abnormality diagnosis, MOLECULAR diagnosis, NUCLEOTIDE sequencing
Abstract

Autozygosity mapping (AM) is a technique utilised for mapping homozygous autosomal recessive (AR) traits and facilitation of genetic diagnosis. We investigated the utility of AM for the molecular diagnosis of heterogeneous AR disorders, using epidermolysis bullosa (EB) as a paradigm. We applied this technique to a cohort of 46 distinct EB families using both short tandem repeat (STR) and genome‐wide single nucleotide polymorphism (SNP) array‐based AM to guide targeted Sanger sequencing of EB candidate genes. Initially, 39 of the 46 cases were diagnosed with homozygous mutations using this method. Independently, 26 cases, including the seven initially unresolved cases, were analysed with an EB‐targeted next‐generation sequencing (NGS) panel. NGS identified mutations in five additional cases, initially undiagnosed due to the presence of compound heterozygosity, deep intronic mutations or runs of homozygosity below the set threshold of 2 Mb, for a total yield of 44 of 46 cases (95.7%) diagnosed genetically. [ABSTRACT FROM AUTHOR]

Published
2019
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44. High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Author

Shaikh, Tamim H., Xiaowu Gai, Perin, Juan C., Glessner, Joseph T., Hongbo Xie, Murphy, Kevin, O'Hara, Ryan, Casalunovo, Tracy, Conlin, Laura K., D'Arcy, Monica, Frackelton, Edward C., Geiger, Elizabeth A., Haldeman-Englert, Chad, Imielinski, Marcin, Kim, Cecilia E., Medne, Livija, Annaiah, Kiran, Bradfield, Jonathan P., Dabaghyan, Elvira, Eckert, Andrew, Onyiah, Chioma C., Ostapenko, Svetlana, Otieno, F. George, Santa, Erin, Shaner, Julie L., Skraban, Robert, Smith, Ryan M., Elia, Josephine, Goldmuntz, Elizabeth, Spinner, Nancy B., Zackai, Elaine H., Chiavacci, Rosetta M., Grundmeier, Robert, Rappaport, Eric F., Grant, Struan F.A., White, Peter S., and Hakonarson, Hakon

Subjects
African Americans -- Genetic aspects, DNA microarrays -- Usage, High resolution spectroscopy -- Analysis, Human genome -- Research, Whites -- Genetic aspects, Health
Published
2009

45. Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis

Author

Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, and Hakonarson, Hakon

Published
2013
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46. Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

Author

Cardinale, Christopher J., primary, Li, Dong, additional, Tian, Lifeng, additional, Connolly, John J., additional, March, Michael E., additional, Hou, Cuiping, additional, Wang, Fengxiang, additional, Snyder, James, additional, Kim, Cecilia E., additional, Chiavacci, Rosetta M., additional, Sleiman, Patrick M., additional, Burnham, Jon M., additional, and Hakonarson, Hakon, additional

Published
2016
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47. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism

Author

Wang, Yanping, primary, Li, Jin, additional, Kolon, Thomas F., additional, Olivant Fisher, Alicia, additional, Figueroa, T. Ernesto, additional, BaniHani, Ahmad H., additional, Hagerty, Jennifer A., additional, Gonzalez, Ricardo, additional, Noh, Paul H., additional, Chiavacci, Rosetta M., additional, Harden, Kisha R., additional, Abrams, Debra J., additional, Stabley, Deborah, additional, Kim, Cecilia E., additional, Sol-Church, Katia, additional, Hakonarson, Hakon, additional, Devoto, Marcella, additional, and Barthold, Julia Spencer, additional

Published
2016
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49. Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

Author

Finkel, Terri H., primary, Li, Jin, additional, Wei, Zhi, additional, Wang, Wei, additional, Zhang, Haitao, additional, Behrens, Edward M., additional, Reuschel, Emma L., additional, Limou, Sophie, additional, Wise, Carol, additional, Punaro, Marilynn, additional, Becker, Mara L., additional, Munro, Jane E., additional, Flatø, Berit, additional, Førre, Øystein, additional, Thompson, Susan D., additional, Langefeld, Carl D., additional, Glass, David N., additional, Glessner, Joseph T., additional, Kim, Cecilia E., additional, Frackelton, Edward, additional, Shivers, Debra K., additional, Thomas, Kelly A., additional, Chiavacci, Rosetta M., additional, Hou, Cuiping, additional, Xu, Kexiang, additional, Snyder, James, additional, Qiu, Haijun, additional, Mentch, Frank, additional, Wang, Kai, additional, Winkler, Cheryl A., additional, Lie, Benedicte A., additional, Ellis, Justine A., additional, and Hakonarson, Hakon, additional

Published
2016
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50. Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Author

Li, Yun R, Zhao, Sihai D, Li, Jin, Bradfield, Jonathan P, Mohebnasab, Maede, Steel, Laura, Kobie, Julie, Abrams, Debra J, Mentch, Frank D, Glessner, Joseph T, Guo, Yiran, Wei, Zhi, Connolly, John J, Cardinale, Christopher J, Bakay, Marina, Li, Dong, Maggadottir, S Melkorka, Thomas, Kelly A, Qui, Haijun, Chiavacci, Rosetta M, Kim, Cecilia E, Wang, Fengxiang, Snyder, James, Flatø, Berit, Førre, Øystein, Denson, Lee A, Thompson, Susan D, Becker, Mara L, Guthery, Stephen L, Latiano, Anna, Perez, Elena, Resnick, Elena, Strisciuglio, Caterina, Staiano, Annamaria, Miele, Erasmo, Silverberg, Mark S, Lie, Benedicte A, Punaro, Marilynn, Russell, Richard K, Wilson, David C, Dubinsky, Marla C, Monos, Dimitri S, Annese, Vito, Munro, Jane E, Wise, Carol, Chapel, Helen, Cunningham-Rundles, Charlotte, Orange, Jordan S, Behrens, Edward M, Sullivan, Kathleen E, Kugathasan, Subra, Griffiths, Anne M, Satsangi, Jack, Grant, Struan FA, Sleiman, Patrick MA, Finkel, Terri H, Polychronakos, Constantin, Baldassano, Robert N, Luning Prak, Eline T, Ellis, Justine A, Li, Hongzhe, Keating, Brendan J, Hakonarson, Hakon, Li, Yun R, Zhao, Sihai D, Li, Jin, Bradfield, Jonathan P, Mohebnasab, Maede, Steel, Laura, Kobie, Julie, Abrams, Debra J, Mentch, Frank D, Glessner, Joseph T, Guo, Yiran, Wei, Zhi, Connolly, John J, Cardinale, Christopher J, Bakay, Marina, Li, Dong, Maggadottir, S Melkorka, Thomas, Kelly A, Qui, Haijun, Chiavacci, Rosetta M, Kim, Cecilia E, Wang, Fengxiang, Snyder, James, Flatø, Berit, Førre, Øystein, Denson, Lee A, Thompson, Susan D, Becker, Mara L, Guthery, Stephen L, Latiano, Anna, Perez, Elena, Resnick, Elena, Strisciuglio, Caterina, Staiano, Annamaria, Miele, Erasmo, Silverberg, Mark S, Lie, Benedicte A, Punaro, Marilynn, Russell, Richard K, Wilson, David C, Dubinsky, Marla C, Monos, Dimitri S, Annese, Vito, Munro, Jane E, Wise, Carol, Chapel, Helen, Cunningham-Rundles, Charlotte, Orange, Jordan S, Behrens, Edward M, Sullivan, Kathleen E, Kugathasan, Subra, Griffiths, Anne M, Satsangi, Jack, Grant, Struan FA, Sleiman, Patrick MA, Finkel, Terri H, Polychronakos, Constantin, Baldassano, Robert N, Luning Prak, Eline T, Ellis, Justine A, Li, Hongzhe, Keating, Brendan J, and Hakonarson, Hakon

Abstract

Autoimmune diseases (AIDs) are polygenic diseases affecting 7-10% of the population in the Western Hemisphere with few effective therapies. Here, we quantify the heritability of paediatric AIDs (pAIDs), including JIA, SLE, CEL, T1D, UC, CD, PS, SPA and CVID, attributable to common genomic variations (SNP-h(2)). SNP-h(2) estimates are most significant for T1D (0.863±s.e. 0.07) and JIA (0.727±s.e. 0.037), more modest for UC (0.386±s.e. 0.04) and CD (0.454±0.025), largely consistent with population estimates and are generally greater than that previously reported by adult GWAS. On pairwise analysis, we observed that the diseases UC-CD (0.69±s.e. 0.07) and JIA-CVID (0.343±s.e. 0.13) are the most strongly correlated. Variations across the MHC strongly contribute to SNP-h(2) in T1D and JIA, but does not significantly contribute to the pairwise rG. Together, our results partition contributions of shared versus disease-specific genomic variations to pAID heritability, identifying pAIDs with unexpected risk sharing, while recapitulating known associations between autoimmune diseases previously reported in adult cohorts.

Published
2015

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