Genetic architecture in autism spectrum disorder
Devlin, Bernie, Scherer, Stephen W
Published in Current opinion in genetics & development (01.06.2012)
Published in Current opinion in genetics & development (01.06.2012)
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
Kosmicki, Jack A, Samocha, Kaitlin E, Howrigan, Daniel P, Sanders, Stephan J, Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J, Cutler, David J, Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D, Neale, Benjamin M, MacArthur, Daniel G, Wall, Dennis P, Robinson, Elise B, Daly, Mark J
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
An, Joon-Yong, Lin, Kevin, Zhu, Lingxue, Werling, Donna M, Dong, Shan, Brand, Harrison, Wang, Harold Z, Zhao, Xuefang, Schwartz, Grace B, Collins, Ryan L, Currall, Benjamin B, Dastmalchi, Claudia, Dea, Jeanselle, Duhn, Clif, Gilson, Michael C, Klei, Lambertus, Liang, Lindsay, Markenscoff-Papadimitriou, Eirene, Pochareddy, Sirisha, Ahituv, Nadav, Buxbaum, Joseph D, Coon, Hilary, Daly, Mark J, Kim, Young Shin, Marth, Gabor T, Neale, Benjamin M, Quinlan, Aaron R, Rubenstein, John L, Sestan, Nenad, State, Matthew W, Willsey, A Jeremy, Talkowski, Michael E, Devlin, Bernie, Roeder, Kathryn, Sanders, Stephan J
Published in Science (American Association for the Advancement of Science) (14.12.2018)
Published in Science (American Association for the Advancement of Science) (14.12.2018)
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The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment
Cotney, Justin, Muhle, Rebecca A., Sanders, Stephan J., Liu, Li, Willsey, A. Jeremy, Niu, Wei, Liu, Wenzhong, Klei, Lambertus, Lei, Jing, Yin, Jun, Reilly, Steven K., Tebbenkamp, Andrew T., Bichsel, Candace, Pletikos, Mihovil, Sestan, Nenad, Roeder, Kathryn, State, Matthew W., Devlin, Bernie, Noonan, James P.
Published in Nature communications (10.03.2015)
Published in Nature communications (10.03.2015)
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Testing for an unusual distribution of rare variants
Neale, Benjamin M, Rivas, Manuel A, Voight, Benjamin F, Altshuler, David, Devlin, Bernie, Orho-Melander, Marju, Kathiresan, Sekar, Purcell, Shaun M, Roeder, Kathryn, Daly, Mark J
Published in PLoS genetics (01.03.2011)
Published in PLoS genetics (01.03.2011)
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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Minshew, Nancy J, Thomas, Kelly, Nurnberger, John I, Crawford, Emily L, Otieno, Frederick, Dawson, Geraldine, Posey, David J, Annaiah, Kiran, Glaberson, Wendy, Wood, Shawn, Meyer, Kacie J, Sleiman, Patrick M. A, Miller, Judith, Munson, Jeffrey, Kim, Cecilia E, Bradfield, Jonathan P, Soorya, Latha, Frackelton, Edward C, Bucan, Maja, Sakurai, Takeshi, Hou, Cuiping, Anagnostou, Evdokia, Piven, Joseph, Schultz, Robert T, Zhang, Haitao, Cook, Edwin H, Schellenberg, Gerard D, Wang, Kai, Flory, James, Rudd, Danielle S, Sweeney, John A, Zurawiecki, Danielle, Grant, Struan F. A, Michaels, Shana, Levy, Susan E, Chiavacci, Rosetta, McMahon, William M, Brune, Camille W, Korvatska, Olena, Klei, Lambertus, Cai, Guiqing, McDougle, Christopher J, Hakonarson, Hakon, Kolevzon, Alexander, Garris, Maria, Silverman, Jeremy M, Wassink, Thomas H, Owley, Thomas, Glessner, Joseph T, Sutcliffe, James S, Reichert, Jennifer, Davis, Lea K, Bernier, Raphael, Game, Rachel M, Devlin, Bernie, Coon, Hilary, Imielinski, Marcin, Estes, Annette, Buxbaum, Joseph D
Published in Nature (28.05.2009)
Published in Nature (28.05.2009)
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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
He, Xin, Sanders, Stephan J, Liu, Li, De Rubeis, Silvia, Lim, Elaine T, Sutcliffe, James S, Schellenberg, Gerard D, Gibbs, Richard A, Daly, Mark J, Buxbaum, Joseph D, State, Matthew W, Devlin, Bernie, Roeder, Kathryn
Published in PLoS genetics (01.08.2013)
Published in PLoS genetics (01.08.2013)
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Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
Luo, Rui, Sanders, Stephan J., Tian, Yuan, Voineagu, Irina, Huang, Ni, Chu, Su H., Klei, Lambertus, Cai, Chaochao, Ou, Jing, Lowe, Jennifer K., Hurles, Matthew E., Devlin, Bernie, State, Matthew W., Geschwind, Daniel H.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types
Chen, Siwei, Wang, Jiebiao, Cicek, Ercument, Roeder, Kathryn, Yu, Haiyuan, Devlin, Bernie
Published in Molecular autism (08.10.2020)
Published in Molecular autism (08.10.2020)
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Common genetic variants, acting additively, are a major source of risk for autism
Klei, Lambertus, Sanders, Stephan J, Murtha, Michael T, Hus, Vanessa, Lowe, Jennifer K, Willsey, A Jeremy, Moreno-De-Luca, Daniel, Yu, Timothy W, Fombonne, Eric, Geschwind, Daniel, Grice, Dorothy E, Ledbetter, David H, Lord, Catherine, Mane, Shrikant M, Martin, Christa Lese, Martin, Donna M, Morrow, Eric M, Walsh, Christopher A, Melhem, Nadine M, Chaste, Pauline, Sutcliffe, James S, State, Matthew W, Cook, Jr, Edwin H, Roeder, Kathryn, Devlin, Bernie
Published in Molecular autism (15.10.2012)
Published in Molecular autism (15.10.2012)
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Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotypes share genetic variation with schizophrenia risk
McKinney, Brandon C., McClain, Lora L., Hensler, Christopher M., Wei, Yue, Klei, Lambertus, Lewis, David A., Devlin, Bernie, Wang, Jiebiao, Ding, Ying, Sweet, Robert A.
Published in Translational psychiatry (20.08.2022)
Published in Translational psychiatry (20.08.2022)
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Discovering genetic ancestry using spectral graph theory
Lee, Ann B., Luca, Diana, Klei, Lambertus, Devlin, Bernie, Roeder, Kathryn
Published in Genetic epidemiology (01.01.2010)
Published in Genetic epidemiology (01.01.2010)
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The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease
Stutzbach, Lauren D, Xie, Sharon X, Naj, Adam C, Albin, Roger, Gilman, Sid, Lee, Virginia M Y, Trojanowski, John Q, Devlin, Bernie, Schellenberg, Gerard D
Published in Acta neuropathologica communications (06.07.2013)
Published in Acta neuropathologica communications (06.07.2013)
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Evaluating and improving health equity and fairness of polygenic scores
Zhang, Tianyu, Zhou, Geyu, Klei, Lambertus, Liu, Peng, Chouldechova, Alexandra, Zhao, Hongyu, Roeder, Kathryn, G’Sell, Max, Devlin, Bernie
Published in HGG advances (11.04.2024)
Published in HGG advances (11.04.2024)
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How rare and common risk variation jointly affect liability for autism spectrum disorder
Klei, Lambertus, McClain, Lora Lee, Mahjani, Behrang, Panayidou, Klea, De Rubeis, Silvia, Grahnat, Anna-Carin Säll, Karlsson, Gun, Lu, Yangyi, Melhem, Nadine, Xu, Xinyi, Reichenberg, Abraham, Sandin, Sven, Hultman, Christina M, Buxbaum, Joseph D, Roeder, Kathryn, Devlin, Bernie
Published in Molecular autism (06.10.2021)
Published in Molecular autism (06.10.2021)
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Transcriptome alterations are enriched for synapse-associated genes in the striatum of subjects with obsessive-compulsive disorder
Piantadosi, Sean C., McClain, Lora L., Klei, Lambertus, Wang, Jiebiao, Chamberlain, Brittany L., Springer, Sara A., Lewis, David A., Devlin, Bernie, Ahmari, Susanne E.
Published in Translational psychiatry (15.03.2021)
Published in Translational psychiatry (15.03.2021)
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Neural Correlates of Symptom Dimensions in Pediatric Obsessive-Compulsive Disorder: A Functional Magnetic Resonance Imaging Study
Gilbert, Andrew R, Akkal, Dalila, Almeida, Jorge R. C, Mataix-Cols, David, Kalas, Catherine, Devlin, Bernie, Birmaher, Boris, Phillips, Mary L
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01.09.2009)
Published in Journal of the American Academy of Child and Adolescent Psychiatry (01.09.2009)
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Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Mahjani, Behrang, De Rubeis, Silvia, Gustavsson Mahjani, Christina, Mulhern, Maureen, Xu, Xinyi, Klei, Lambertus, Satterstrom, F Kyle, Fu, Jack, Talkowski, Michael E, Reichenberg, Abraham, Sandin, Sven, Hultman, Christina M, Grice, Dorothy E, Roeder, Kathryn, Devlin, Bernie, Buxbaum, Joseph D
Published in Molecular autism (06.10.2021)
Published in Molecular autism (06.10.2021)
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DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics
Liu, Li, Lei, Jing, Sanders, Stephan J, Willsey, Arthur Jeremy, Kou, Yan, Cicek, Abdullah Ercument, Klei, Lambertus, Lu, Cong, He, Xin, Li, Mingfeng, Muhle, Rebecca A, Ma'ayan, Avi, Noonan, James P, Sestan, Nenad, McFadden, Kathryn A, State, Matthew W, Buxbaum, Joseph D, Devlin, Bernie, Roeder, Kathryn
Published in Molecular autism (06.03.2014)
Published in Molecular autism (06.03.2014)
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