Willa Thorson

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Willa Thorson, Oscar Diaz‐Horta, Joseph Foster et al. · Human Genetics · 2013 · 101 citations

Urology, Developmental Biology, Medicine +6

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

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Lance H. Rodan, Rebecca C. Spillmann, Harley T. Kurata et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Neurobiology Of Disease, Corticobasal Degeneration, Neurological Disorder +9

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Kelly Schoch, Cecilia Esteves, Anna Bican et al. · Genetics in Medicine · 2020 · 39 citations · Full text

Undiagnosed Diseases Network, Translational Bioinformatics, Medicine +11