LinkedSV for detection of mosaic structural variants from linked-read exome and genome sequencing data

por Li Fang, Charlly Kao, Michael V. Gonzalez, Fernanda A. Mafra, Renata Pellegrino da Silva, Mingyao Li, Sören-Sebastian Wenzel, Katharina Wimmer, Hakon Hakonarson, Kai Wang
Publicado 2019

NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients

por Michael E. March, Alvaro Gutierrez-Uzquiza, Asbjorg Osk Snorradottir, Leticia S. Matsuoka, Noelia Fonseca Balvis, Thorgeir Gestsson, Kenny Nguyen, Patrick M. A. Sleiman, Charlly Kao, Helgi J. Isaksson, Birkir Thor Bragason, Elias Olafsson, Astridur Palsdottir, Hakon Hakonarson
Publicado 2021

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

por 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
Publicado 2018

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