Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.

by Jinmyung Choi, Parisa Shooshtari, Kaitlin E Samocha, Mark J Daly, Chris Cotsapas
Published 2016-06-01

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

by Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin
Published 2024-04-01

Contribution of retrotransposition to developmental disorders

by Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick J. Short, Alejandro Sifrim, Tarjinder Singh, Kate E. Chandler, Emma Clement, Katherine L. Lachlan, Katrina Prescott, Elisabeth Rosser, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Published 2019-10-01

The contribution of X-linked coding variation to severe developmental disorders

by Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles
Published 2021-01-01

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

by Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly
Published 2020-03-01

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 2013-04-01

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

by Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.
Published 2017

Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation

by Choi, Jinmyung, Shooshtari, Parisa, Samocha, Kaitlin E., Daly, Mark J., Cotsapas, Chris
Published 2016

Exome Sequencing in Schizophrenia-Affected Parent–offspring Trios Reveals Risk Conferred by Protein-Coding De Novo Mutations

by Howrigan, Daniel, Rose, Samuel A., Samocha, Kaitlin E., Fromer, Menachem, Cerrato, Felecia, Chen, Wei J., Churchhouse, Claire, Chambert, Kimberly, Chandler, Sharon D., Daly, Mark, Dumont, Ashley, Genovese, Giulio, Hwu, Hai-Gwo, Laird, Nan, Kosmicki, Jack, Moran, Jennifer L., Singh, Tarjinder, McCarroll, Steven, Faraone, Stephen V., Glatt, Stephen J., McCarroll, Steven, Tsuang, Ming, Neale, Benjamin
Published 2022

Patterns and rates of exonic de novo mutations in autism spectrum disorders

by Neale, Benjamin Michael, Kou, Yan, Liu, Li, Ma'ayan, Avi, Samocha, Kaitlin Elisabeth, Sabo, Aniko, Lin, Chiao-Feng, Stevens, Christine, Wang, Li-San, Makarov, Vladimir, Polak, Pazi Penchas, Yoon, Seungtai, Maguire, Jared, Crawford, Emily L., Campbell, Nicholas G., Geller, Evan T., Valladares, Otto, Shafer, Chad, Liu, Han, Zhao, Tuo, Cai, Guiqing, Lihm, Jayon, Dannenfelser, Ruth, Jabado, Omar, Peralta, Zuleyma, Nagaswamy, Uma, Muzny, Donna, Reid, Jeffrey G., Newsham, Irene, Wu, Yuanqing, Lewis, Lora, Han, Yi, Voight, Benjamin F., Lim, Elaine, Rossin, Elizabeth Jeffries, Kirby, Andrew, Flannick, Jason A., Fromer, Menachem, Shakir, Khalid, Fennell, Tim, Garimella, Kiran, Banks, Eric, Poplin, Ryan, Gabriel, Stacey, DePristo, Mark, Wimbish, Jack R., Boone, Braden E., Levy, Shawn E., Betancur, Catalina, Sunyaev, Shamil R., Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Devlin, Bernie, Gibbs, Richard A., Roeder, Kathryn, Schellenberg, Gerard D., Sutcliffe, James S., Daly, Mark Joseph
Published 2013

A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling

by Patterson, Heide Christine, Gerbeth, Carolin, Thiru, Prathapan, Vogtle, Nora F., Knoll, Marko, Shahsafaei, Aliakbar, Samocha, Kaitlin E., Huang, Cher X., Song, Rui, Chen, Cynthia, Kao, Jennifer, Shi, Jiahai, Salmon, Wendy, Shaul, Yoav D., Stokes, Matthew P., Silva, Jeffrey C., Bell, George W., MacArthur, Daniel G., Ruland, Jurgen, Meisinger, Chris, Harden, Mark Michael,Jr., Lodish, Harvey F
Published 2016