Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
Coe, Bradley P., Stessman, Holly A. F., Sulovari, Arvis, Geisheker, Madeleine R., Bakken, Trygve E., Lake, Allison M., Dougherty, Joseph D., Lein, Ed S., Hormozdiari, Fereydoun, Bernier, Raphael A., Eichler, Evan E.
Published in Nature genetics (01.01.2019)
Published in Nature genetics (01.01.2019)
Get full text
Journal Article
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.
Published in American journal of human genetics (05.12.2019)
Published in American journal of human genetics (05.12.2019)
Get full text
Journal Article
A framework for an evidence-based gene list relevant to autism spectrum disorder
Schaaf, Christian P., Betancur, Catalina, Yuen, Ryan K. C., Parr, Jeremy R., Skuse, David H., Gallagher, Louise, Bernier, Raphael A., Buchanan, Janet A., Buxbaum, Joseph D., Chen, Chun-An, Dies, Kira A., Elsabbagh, Mayada, Firth, Helen V., Frazier, Thomas, Hoang, Ny, Howe, Jennifer, Marshall, Christian R., Michaud, Jacques L., Rennie, Olivia, Szatmari, Peter, Chung, Wendy K., Bolton, Patrick F., Cook, Edwin H., Scherer, Stephen W., Vorstman, Jacob A. S.
Published in Nature reviews. Genetics (01.06.2020)
Published in Nature reviews. Genetics (01.06.2020)
Get full text
Journal Article
Excess of rare, inherited truncating mutations in autism
Krumm, Niklas, Turner, Tychele N, Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P, Stessman, Holly A, He, Zong-Xiao, Leal, Suzanne M, Bernier, Raphael, Eichler, Evan E
Published in Nature genetics (01.06.2015)
Published in Nature genetics (01.06.2015)
Get full text
Journal Article
Long-term Risk of Neuropsychiatric Disease After Exposure to Infection In Utero
Al-Haddad, Benjamin J S, Jacobsson, Bo, Chabra, Shilpi, Modzelewska, Dominika, Olson, Erin M, Bernier, Raphael, Enquobahrie, Daniel A, Hagberg, Henrik, Östling, Svante, Rajagopal, Lakshmi, Adams Waldorf, Kristina M, Sengpiel, Verena
Published in JAMA psychiatry (Chicago, Ill.) (01.06.2019)
Published in JAMA psychiatry (Chicago, Ill.) (01.06.2019)
Get more information
Journal Article
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
Giannuzzi, Giuliana, Schmidt, Paul J., Porcu, Eleonora, Willemin, Gilles, Munson, Katherine M., Nuttle, Xander, Earl, Rachel, Chrast, Jacqueline, Hoekzema, Kendra, Risso, Davide, Männik, Katrin, De Nittis, Pasquelena, Baratz, Ethan D., Herault, Yann, Gao, Xiang, Philpott, Caroline C., Bernier, Raphael A., Kutalik, Zoltan, Fleming, Mark D., Eichler, Evan E., Reymond, Alexandre
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
Get full text
Journal Article
Progress in Understanding and Treating SCN2A-Mediated Disorders
Sanders, Stephan J., Campbell, Arthur J., Cottrell, Jeffrey R., Moller, Rikke S., Wagner, Florence F., Auldridge, Angie L., Bernier, Raphael A., Catterall, William A., Chung, Wendy K., Empfield, James R., George, Alfred L., Hipp, Joerg F., Khwaja, Omar, Kiskinis, Evangelos, Lal, Dennis, Malhotra, Dheeraj, Millichap, John J., Otis, Thomas S., Petrou, Steven, Pitt, Geoffrey, Schust, Leah F., Taylor, Cora M., Tjernagel, Jennifer, Spiro, John E., Bender, Kevin J.
Published in Trends in neurosciences (Regular ed.) (01.07.2018)
Published in Trends in neurosciences (Regular ed.) (01.07.2018)
Get full text
Journal Article
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, Brian J., Vives, Laura, Girirajan, Santhosh, Karakoc, Emre, Krumm, Niklas, Coe, Bradley P., Levy, Roie, Ko, Arthur, Lee, Choli, Smith, Joshua D., Turner, Emily H., Stanaway, Ian B., Vernot, Benjamin, Malig, Maika, Baker, Carl, Reilly, Beau, Akey, Joshua M., Borenstein, Elhanan, Rieder, Mark J., Nickerson, Deborah A., Bernier, Raphael, Shendure, Jay, Eichler, Evan E.
Published in Nature (London) (10.05.2012)
Published in Nature (London) (10.05.2012)
Get full text
Journal Article
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
O'Roak, Brian J, Deriziotis, Pelagia, Lee, Choli, Vives, Laura, Schwartz, Jerrod J, Girirajan, Santhosh, Karakoc, Emre, MacKenzie, Alexandra P, Ng, Sarah B, Baker, Carl, Rieder, Mark J, Nickerson, Deborah A, Bernier, Raphael, Fisher, Simon E, Shendure, Jay, Eichler, Evan E
Published in Nature genetics (01.06.2011)
Published in Nature genetics (01.06.2011)
Get full text
Journal Article
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
Krupp, Deidre R., Barnard, Rebecca A., Duffourd, Yannis, Evans, Sara A., Mulqueen, Ryan M., Bernier, Raphael, Rivière, Jean-Baptiste, Fombonne, Eric, O’Roak, Brian J.
Published in American journal of human genetics (07.09.2017)
Published in American journal of human genetics (07.09.2017)
Get full text
Journal Article
Weaker neural suppression in autism
Schallmo, Michael-Paul, Kolodny, Tamar, Kale, Alexander M., Millin, Rachel, Flevaris, Anastasia V., Edden, Richard A. E., Gerdts, Jennifer, Bernier, Raphael A., Murray, Scott O.
Published in Nature communications (29.05.2020)
Published in Nature communications (29.05.2020)
Get full text
Journal Article
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
O'Roak, Brian J., Vives, Laura, Fu, Wenqing, Egertson, Jarrett D., Stanaway, Ian B., Phelps, Ian G., Carvill, Gemma, Kumar, Akash, Lee, Choli, Ankenman, Katy, Munson, Jeff, Hiatt, Joseph B., Turner, Emily H., Levy, Roie, O'Day, Diana R., Krumm, Niklas, Coe, Bradley P., Martin, Beth K., Borenstein, Elhanan, Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Akey, Joshua M., Bernier, Raphael, Eichler, Evan E., Shendure, Jay
Published in Science (American Association for the Advancement of Science) (21.12.2012)
Published in Science (American Association for the Advancement of Science) (21.12.2012)
Get full text
Journal Article
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes
Guo, Hui, Duyzend, Michael H., Coe, Bradley P., Baker, Carl, Hoekzema, Kendra, Gerdts, Jennifer, Turner, Tychele N., Zody, Michael C., Beighley, Jennifer S., Murali, Shwetha C., Nelson, Bradley J., Bamshad, Michael J., Nickerson, Deborah A., Bernier, Raphael A., Eichler, Evan E.
Published in Genetics in medicine (01.07.2019)
Published in Genetics in medicine (01.07.2019)
Get full text
Journal Article
De novo TBR1 mutations in sporadic autism disrupt protein functions
Deriziotis, Pelagia, O’Roak, Brian J., Graham, Sarah A., Estruch, Sara B., Dimitropoulou, Danai, Bernier, Raphael A., Gerdts, Jennifer, Shendure, Jay, Eichler, Evan E., Fisher, Simon E.
Published in Nature communications (18.09.2014)
Published in Nature communications (18.09.2014)
Get full text
Journal Article
Sex Differences in Visual Motion Processing
Murray, Scott O., Schallmo, Michael-Paul, Kolodny, Tamar, Millin, Rachel, Kale, Alex, Thomas, Philipp, Rammsayer, Thomas H., Troche, Stefan J., Bernier, Raphael A., Tadin, Duje
Published in Current biology (10.09.2018)
Published in Current biology (10.09.2018)
Get full text
Journal Article