A point mutation in the gene for asparagine-linked glycosylation 10B (Alg10b) causes nonsyndromic hearing impairment in mice (Mus musculus).

by Frank J Probst, Rebecca R Corrigan, Daniela Del Gaudio, Andrew P Salinger, Isabel Lorenzo, Simon S Gao, Ilene Chiu, Anping Xia, John S Oghalai, Monica J Justice
Published 2013-01-01

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

by Sureni V. Mullegama, Steven D. Klein, Stephen R. Williams, Jeffrey W. Innis, Frank J. Probst, Chad Haldeman-Englert, Julian A. Martinez-Agosto, Ying Yang, Yuchen Tian, Sarah H. Elsea, Toshihiko Ezashi
Published 2021-05-01

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

by Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet
Published 2014-03-01

Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.

by Melissa K Boles, Bonney M Wilkinson, Laurens G Wilming, Bin Liu, Frank J Probst, Jennifer Harrow, Darren Grafham, Kathryn E Hentges, Lanette P Woodward, Andrea Maxwell, Karen Mitchell, Michael D Risley, Randy Johnson, Karen Hirschi, James R Lupski, Yosuke Funato, Hiroaki Miki, Pablo Marin-Garcia, Lucy Matthews, Alison J Coffey, Anne Parker, Tim J Hubbard, Jane Rogers, Allan Bradley, David J Adams, Monica J Justice
Published 2009-12-01