Bibliotecas PUC-SP - Busca Integrada

De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types

by Siwei Chen, Jiebiao Wang, Ercument Cicek, Kathryn Roeder, Haiyuan Yu, Bernie Devlin
Published in Molecular Autism (2020-10-01)

Evaluating and improving health equity and fairness of polygenic scores

by Tianyu Zhang, Geyu Zhou, Lambertus Klei, Peng Liu, Alexandra Chouldechova, Hongyu Zhao, Kathryn Roeder, Max G’Sell, Bernie Devlin
Published in HGG Advances (2024-04-01)

Transcriptome alterations are enriched for synapse-associated genes in the striatum of subjects with obsessive-compulsive disorder

by Sean C. Piantadosi, Lora L. McClain, Lambertus Klei, Jiebiao Wang, Brittany L. Chamberlain, Sara A. Springer, David A. Lewis, Bernie Devlin, Susanne E. Ahmari
Published in Translational Psychiatry (2021-03-01)

Testing for an unusual distribution of rare variants.

by Benjamin M Neale, Manuel A Rivas, Benjamin F Voight, David Altshuler, Bernie Devlin, Marju Orho-Melander, Sekar Kathiresan, Shaun M Purcell, Kathryn Roeder, Mark J Daly
Published in PLoS Genetics (2011-03-01)

Schizophrenia-associated differential DNA methylation in brain is distributed across the genome and annotated to MAD1L1, a locus at which DNA methylation and transcription phenotyp...

by Brandon C. McKinney, Lora L. McClain, Christopher M. Hensler, Yue Wei, Lambertus Klei, David A. Lewis, Bernie Devlin, Jiebiao Wang, Ying Ding, Robert A. Sweet
Published in Translational Psychiatry (2022-08-01)

Maternal body mass index in early pregnancy and autism in offspring: a population-based cohort study in Sweden and Denmark

by Matilda Morin, Weiyao Yin, Heidi MacLean, Bernie Devlin, Abraham Reichenberg, Shanna H. Swan, Joseph D. Buxbaum, Diana Schendel, Martina Persson, Thomas Munk Laursen, Alexander Kolevzon, Jakob Grove, Lambertus Klei, Kathryn Roeder, Sven Sandin
Published in BMC Medicine (2025-11-01)

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

by Xin He, Stephan J Sanders, Li Liu, Silvia De Rubeis, Elaine T Lim, James S Sutcliffe, Gerard D Schellenberg, Richard A Gibbs, Mark J Daly, Joseph D Buxbaum, Matthew W State, Bernie Devlin, Kathryn Roeder
Published in PLoS Genetics (2013-01-01)

Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

by Behrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, Maureen Mulhern, Xinyi Xu, Lambertus Klei, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Bernie Devlin, Joseph D. Buxbaum
Published in Molecular Autism (2021-10-01)

How rare and common risk variation jointly affect liability for autism spectrum disorder

by Lambertus Klei, Lora Lee McClain, Behrang Mahjani, Klea Panayidou, Silvia De Rubeis, Anna-Carin Säll Grahnat, Gun Karlsson, Yangyi Lu, Nadine Melhem, Xinyi Xu, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Joseph D. Buxbaum, Kathryn Roeder, Bernie Devlin
Published in Molecular Autism (2021-10-01)

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

by Li Liu, Aniko Sabo, Benjamin M Neale, Uma Nagaswamy, Christine Stevens, Elaine Lim, Corneliu A Bodea, Donna Muzny, Jeffrey G Reid, Eric Banks, Hillary Coon, Mark Depristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook, Bernie Devlin, Gerard D Schellenberg, James S Sutcliffe, Mark J Daly, Richard A Gibbs, Kathryn Roeder
Published in PLoS Genetics (2013-04-01)

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex

by Donna M. Werling, Sirisha Pochareddy, Jinmyung Choi, Joon-Yong An, Brooke Sheppard, Minshi Peng, Zhen Li, Claudia Dastmalchi, Gabriel Santpere, André M.M. Sousa, Andrew T.N. Tebbenkamp, Navjot Kaur, Forrest O. Gulden, Michael S. Breen, Lindsay Liang, Michael C. Gilson, Xuefang Zhao, Shan Dong, Lambertus Klei, A. Ercument Cicek, Joseph D. Buxbaum, Homa Adle-Biassette, Jean-Leon Thomas, Kimberly A. Aldinger, Diana R. O’Day, Ian A. Glass, Noah A. Zaitlen, Michael E. Talkowski, Kathryn Roeder, Matthew W. State, Bernie Devlin, Stephan J. Sanders, Nenad Sestan
Published in Cell Reports (2020-04-01)

De Novo Insertions and Deletions of Predominantly Paternal Origin Are Associated with Autism Spectrum Disorder

by Shan Dong, Michael F. Walker, Nicholas J. Carriero, Michael DiCola, A. Jeremy Willsey, Adam Y. Ye, Zainulabedin Waqar, Luis E. Gonzalez, John D. Overton, Stephanie Frahm, John F. Keaney, III, Nicole A. Teran, Jeanselle Dea, Jeffrey D. Mandell, Vanessa Hus Bal, Catherine A. Sullivan, Nicholas M. DiLullo, Rehab O. Khalil, Jake Gockley, Zafer Yuksel, Sinem M. Sertel, A. Gulhan Ercan-Sencicek, Abha R. Gupta, Shrikant M. Mane, Michael Sheldon, Andrew I. Brooks, Kathryn Roeder, Bernie Devlin, Matthew W. State, Liping Wei, Stephan J. Sanders
Published in Cell Reports (2014-10-01)

Genetic associations with psychosis and affective disturbance in Alzheimer's disease

by Inga Margret Antonsdottir, Byron Creese, Lambertus Klei, Mary Ann A. DeMichele‐Sweet, Elise A. Weamer, Pablo Garcia‐Gonzalez, Marta Marquie, Mercè Boada, Emilio Alarcón‐Martín, Sergi Valero, NIA‐LOAD Family Based Study Consortium, Alzheimer's Disease Genetics Consortium (ADGC), AddNeuroMed Consortium, Yushi Liu, Basavaraj Hooli, Dag Aarsland, Geir Selbaek, Sverre Bergh, Arvid Rongve, Ingvild Saltvedt, Håvard K. Skjellegrind, Bo Engdahl, Ole A. Andreassen, Barbara Borroni, Patrizia Mecocci, Yehani Wedatilake, Richard Mayeux, Tatiana Foroud, Agustín Ruiz, Oscar L. Lopez, M. Ilyas Kamboh, Clive Ballard, Bernie Devlin, Constantine Lyketsos, Robert A. Sweet
Published in Alzheimer’s & Dementia: Translational Research & Clinical Interventions (2024-04-01)