Phenobarbital use and neurological problems in FMR1 premutation carriers.

by Saldarriaga, Wilmar, Lein, Pamela, González Teshima, Laura Yuriko, Isaza, Carolina, Rosa, Lina, Polyak, Andrew, Hagerman, Randi, Girirajan, Santhosh, Silva, Marisol, Tassone, Flora
Published 2016

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

by Jensen, Matthew, Kooy, R Frank, Simon, Tony J, Reyniers, Edwin, Girirajan, Santhosh, Tassone, Flora
Published 2018

Global increases in both common and rare copy number load associated with autism.

by Girirajan, Santhosh, Johnson, Rebecca L, Tassone, Flora, Balciuniene, Jorune, Katiyar, Neerja, Fox, Keolu, Baker, Carl, Srikanth, Abhinaya, Yeoh, Kian Hui, Khoo, Su Jen, Nauth, Therese B, Hansen, Robin, Ritchie, Marylyn, Hertz-Picciotto, Irva, Eichler, Evan E, Pessah, Isaac N, Selleck, Scott B
Published 2013

Dissecting the genetic basis of comorbid epilepsy phenotypes in neurodevelopmental disorders.

by Chow, Julie, Jensen, Matthew, Amini, Hajar, Hormozdiari, Farhad, Penn, Osnat, Shifman, Sagiv, Girirajan, Santhosh, Hormozdiari, Fereydoun
Published 2019

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.

by Girirajan, Santhosh, Rosenfeld, Jill A, Cooper, Gregory M, Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E, Baker, Carl, Mefford, Heather C, Kidd, Jeffrey M, Browning, Sharon R, Browning, Brian L, Dickel, Diane E, Levy, Deborah L, Ballif, Blake C, Platky, Kathryn, Farber, Darren M, Gowans, Gordon C, Wetherbee, Jessica J, Asamoah, Alexander, Weaver, David D, Mark, Paul R, Dickerson, Jennifer, Garg, Bhuwan P, Ellingwood, Sara A, Smith, Rosemarie, Banks, Valerie C, Smith, Wendy, McDonald, Marie T, Hoo, Joe J, French, Beatrice N, Hudson, Cindy, Johnson, John P, Ozmore, Jillian R, Moeschler, John B, Surti, Urvashi, Escobar, Luis F, El-Khechen, Dima, Gorski, Jerome L, Kussmann, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M, Zackai, Elaine H, Deardorff, Matthew A, Shaikh, Tamim H, Haan, Eric, Friend, Kathryn L, Fichera, Marco, Romano, Corrado, Gécz, Jozef, DeLisi, Lynn E, Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G, Eichler, Evan E
Published 2010