Characterization of the renal phenotype in RMND1‐related mitochondrial disease

by Brian J. Shayota, Nhon T. Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy C. Goldstein, Michael Moritz, Dennis W. Bartholomew, Matthew T. Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J. Lamb, Fernando Scaglia, Michael C. Braun, Mir Reza Bekheirnia
Published 2019-12-01

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

by Alexander H. Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C. A. D’Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R. Parekh, Wayne J. Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny, Charles D. Fraser, James F. Martin, Christine Eng, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, John W. Belmont
Published 2017-10-01

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.

by Jinglan Zhang, Véronik Lachance, Adam Schaffner, Xianting Li, Anastasia Fedick, Lauren E Kaye, Jun Liao, Jill Rosenfeld, Naomi Yachelevich, Mary-Lynn Chu, Wendy G Mitchell, Richard G Boles, Ellen Moran, Mari Tokita, Elizabeth Gorman, Kaytee Bagley, Wei Zhang, Fan Xia, Magalie Leduc, Yaping Yang, Christine Eng, Lee-Jun Wong, Raphael Schiffmann, George A Diaz, Ruth Kornreich, Ryan Thummel, Melissa Wasserstein, Zhenyu Yue, Lisa Edelmann
Published 2016-04-01