Janson J. White

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song et al. · The American Journal of Human Genetics · 2018 · 228 citations · Full text

Genetic Analysis, Allelic Variant, Systems Biology +7

DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Alexander Hoischen et al. · The American Journal of Human Genetics · 2015 · 135 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Zeynep Coban‐Akdemir et al. · The American Journal of Human Genetics · 2017 · 110 citations · Full text

Knockout Mouse, Developmental Biology, Genetic Disorder +6

DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome

Janson J. White, Juliana F. Mazzeu, Alexander Hoischen et al. · The American Journal of Human Genetics · 2016 · 108 citations · Full text

Allelic Variant, −1 Frameshift, Developmental Biology +8

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Ingrid S. Paine, Jennifer E. Posey, Christopher M. Grochowski et al. · The American Journal of Human Genetics · 2019 · 105 citations · Full text

Functional Genomics, Medicine, Genetics +6