Brent L. Fogel

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

Hane Lee, Joshua L. Deignan, Naghmeh Dorrani et al. · JAMA · 2014 · 969 citations · Full text

Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export

Andrea Legati, Donatella Giovannini, Gaël Nicolas et al. · Nature Genetics · 2015 · 306 citations · Full text

Neurodegenerative Diseases, Altered Phosphate Export, Mendelian Disorder +6

Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS

Haloom Rafehi, David J. Szmulewicz, Mark F. Bennett et al. · The American Journal of Human Genetics · 2019 · 276 citations · Full text

Exome Sequencing in the Clinical Diagnosis of Sporadic or Familial Cerebellar Ataxia

Brent L. Fogel, Hane Lee, Joshua L. Deignan et al. · JAMA Neurology · 2014 · 235 citations · Full text

RBFOX1 regulates both splicing and transcriptional networks in human neuronal development

Brent L. Fogel, Eric Wexler, Amanda Wahnich et al. · Human Molecular Genetics · 2012 · 215 citations · Full text

Transcriptional Networks, Brain Development, Genetics +18