Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

by Dong Li, Elizabeth Bhoj, Elizabeth McCormick, Fengxiang Wang, James Snyder, Tiancheng Wang, Yan Zhao, Cecilia Kim, Rosetta Chiavacci, Lifeng Tian, Marni J. Falk, Hakon Hakonarson
Published 2016-01-01

Gene network analysis in a pediatric cohort identifies novel lung function genes.

by Bruce A Ong, Jin Li, Joseph M McDonough, Zhi Wei, Cecilia Kim, Rosetta Chiavacci, Frank Mentch, Jason B Caboot, Jonathan Spergel, Julian L Allen, Patrick M A Sleiman, Hakon Hakonarson
Published 2013-01-01

From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes.

by Zhi Wei, Kai Wang, Hui-Qi Qu, Haitao Zhang, Jonathan Bradfield, Cecilia Kim, Edward Frackleton, Cuiping Hou, Joseph T Glessner, Rosetta Chiavacci, Charles Stanley, Dimitri Monos, Struan F A Grant, Constantin Polychronakos, Hakon Hakonarson
Published 2009-10-01

Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling

by Josephine Elia, Grace Ungal, Charlly Kao, Alexander Ambrosini, Nilsa De Jesus-Rosario, Lene Larsen, Rosetta Chiavacci, Tiancheng Wang, Christine Kurian, Kanani Titchen, Brian Sykes, Sharon Hwang, Bhumi Kumar, Jacqueline Potts, Joshua Davis, Jeffrey Malatack, Emma Slattery, Ganesh Moorthy, Athena Zuppa, Andrew Weller, Enda Byrne, Yun R. Li, Walter K. Kraft, Hakon Hakonarson
Published 2018-01-01

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

by 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
Published 2020-01-01