Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.

por Nori Matsunami, Dexter Hadley, Charles H Hensel, G Bryce Christensen, Cecilia Kim, Edward Frackelton, Kelly Thomas, Renata Pellegrino da Silva, Jeff Stevens, Lisa Baird, Brith Otterud, Karen Ho, Tena Varvil, Tami Leppert, Christophe G Lambert, Mark Leppert, Hakon Hakonarson
Publicado 2013

Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk

por Xiao Chang, Yan Zhao, Cuiping Hou, Joseph Glessner, Lee McDaniel, Maura A. Diamond, Kelly Thomas, Jin Li, Zhi Wei, Yichuan Liu, Yiran Guo, Frank D. Mentch, Haijun Qiu, Cecilia Kim, Perry Evans, Zalman Vaksman, Sharon J. Diskin, Edward F. Attiyeh, Patrick Sleiman, John M. Maris, Hakon Hakonarson
Publicado 2017

Leprosy and the adaptation of human toll-like receptor 1.

por Sunny H Wong, Sailesh Gochhait, Dheeraj Malhotra, Fredrik H Pettersson, Yik Y Teo, Chiea C Khor, Anna Rautanen, Stephen J Chapman, Tara C Mills, Amit Srivastava, Aleksey Rudko, Maxim B Freidin, Valery P Puzyrev, Shafat Ali, Shweta Aggarwal, Rupali Chopra, Belum S N Reddy, Vijay K Garg, Suchismita Roy, Sarah Meisner, Sunil K Hazra, Bibhuti Saha, Sian Floyd, Brendan J Keating, Cecilia Kim, Benjamin P Fairfax, Julian C Knight, Philip C Hill, Richard A Adegbola, Hakon Hakonarson, Paul E M Fine, Ramasamy M Pitchappan, Rameshwar N K Bamezai, Adrian V S Hill, Fredrik O Vannberg
Publicado 2010

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations

por Yun Rose Li, Joseph T. Glessner, Bradley P. Coe, Jin Li, Maede Mohebnasab, Xiao Chang, John Connolly, Charlly Kao, Zhi Wei, Jonathan Bradfield, Cecilia Kim, Cuiping Hou, Munir Khan, Frank Mentch, Haijun Qiu, Marina Bakay, Christopher Cardinale, Maria Lemma, Debra Abrams, Andrew Bridglall-Jhingoor, Meckenzie Behr, Shanell Harrison, George Otieno, Alexandria Thomas, Fengxiang Wang, Rosetta Chiavacci, Lawrence Wu, Dexter Hadley, Elizabeth Goldmuntz, Josephine Elia, John Maris, Robert Grundmeier, Marcella Devoto, Brendan Keating, Michael March, Renata Pellagrino, Struan F. A. Grant, Patrick M. A. Sleiman, Mingyao Li, Evan E. Eichler, Hakon Hakonarson
Publicado 2020

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.

por Maja Bucan, Brett S Abrahams, Kai Wang, Joseph T Glessner, Edward I Herman, Lisa I Sonnenblick, Ana I Alvarez Retuerto, Marcin Imielinski, Dexter Hadley, Jonathan P Bradfield, Cecilia Kim, Nicole B Gidaya, Ingrid Lindquist, Ted Hutman, Marian Sigman, Vlad Kustanovich, Clara M Lajonchere, Andrew Singleton, Junhyong Kim, Thomas H Wassink, William M McMahon, Thomas Owley, John A Sweeney, Hilary Coon, John I Nurnberger, Mingyao Li, Rita M Cantor, Nancy J Minshew, James S Sutcliffe, Edwin H Cook, Geraldine Dawson, Joseph D Buxbaum, Struan F A Grant, Gerard D Schellenberg, Daniel H Geschwind, Hakon Hakonarson
Publicado 2009