James P. Orengo

Expanded CTG repeats within the <i>DMPK</i> 3′ UTR causes severe skeletal muscle wasting in an inducible mouse model for myotonic dystrophy

James P. Orengo, Pierre Chambon, Daniel METZGER et al. · Proceedings of the National Academy of Sciences · 2008 · 175 citations · Full text

Medicine, Genetics, Molecular Genetics +15

A bichromatic fluorescent reporter for cell-based screens of alternative splicing

James P. Orengo, Donnie S. Bundman, Thomas A. Cooper · Nucleic Acids Research · 2006 · 119 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +17

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Life Sciences, Biochemistry, Cell Biology +12

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Brett V. Johnson, Raman Kumar, Sabrina Oishi et al. · Biological Psychiatry · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov et al. · The American Journal of Human Genetics · 2020 · 69 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16