Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

por Sujata Srikanth, Lavanya Jain, Cinthya Zepeda-Mendoza, Lauren Cascio, Kelly Jones, Rini Pauly, Barb DuPont, Curtis Rogers, Sara Sarasua, Katy Phelan, Cynthia Morton, Luigi Boccuto
Publicado 2021

A new test for autism spectrum disorder: Metabolic data from different cell types

por Sujata Srikanth, Lauren Cascio, Rini Pauly, Kelly Jones, Skylar Sorrow, Rossana Cubillan, Chin-Fu Chen, Cindy D. Skinner, Kevin Champaigne, Roger E. Stevenson, Charles E. Schwartz, Luigi Boccuto
Publicado 2021

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

por Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, Sujata Srikanth, Nicola A. Thompson, Mercedes Pardo, Lu Yu, Joy W. Norris, Yunhui Peng, Karen W. Gripp, Kirk A. Aleck, Chumei Li, Ed Spence, Tae-Ik Choi, Soo Jeong Kwon, Hee-Moon Park, Daseuli Yu, Won Do Heo, Marie R. Mooney, Shahid M. Baig, Ingrid M. Wentzensen, Aida Telegrafi, Kirsty McWalter, Trevor Moreland, Chelsea Roadhouse, Keri Ramsey, Michael J. Lyons, Cindy Skinner, Emil Alexov, Nicholas Katsanis, Roger E. Stevenson, Jyoti S. Choudhary, David J. Adams, Cheol-Hee Kim, Erica E. Davis, Charles E. Schwartz
Publicado 2020