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 · 173 citations · Full text

Muscle Function, Genetics, Dm1 Skeletal Muscle +16

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

James P. Orengo, Donnie S. Bundman, Thomas A. Cooper · Nucleic Acids Research · 2006 · 117 citations · Full text

Alternative splicing dysregulation secondary to skeletal muscle regeneration

James P. Orengo, Amanda J. Ward, Thomas A. Cooper · Annals of Neurology · 2010 · 58 citations · Full text

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Oguz Kanca, Jonathan C. Andrews, Pei-Tseng Lee et al. · The American Journal of Human Genetics · 2019 · 55 citations · Full text

Wdr37 Are Associated, Mendelian Disorder, Genetic Disorder +9

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Sacha Ferdinandusse, Kirsty McWalter, Heleen te Brinke et al. · Genetics in Medicine · 2020 · 49 citations · Full text