Cameron Mroske

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

Kelly D. Farwell, Layla Shahmirzadi, Dima El‐Khechen et al. · Genetics in Medicine · 2014 · 468 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

Katherine L. Helbig, Kelly D. Farwell Hagman, Deepali N. Shinde et al. · Genetics in Medicine · 2016 · 360 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2018 · 186 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +8

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder

Ning Liu, Kelly Schoch, Xi Luo et al. · Human Molecular Genetics · 2018 · 73 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske et al. · Genetics in Medicine · 2016 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15