Kelly Radtke

The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

Marina T. DiStefano, Scott Goehringer, Lawrence Babb et al. · Genetics in Medicine · 2022 · 145 citations · Full text

Bioinformatics Database, Global Effort, Genetics +9

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya et al. · Genetics in Medicine · 2023 · 112 citations · Full text

Genome-wide Association Study, Genetic Analysis, Next-generation Sequencing +6

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Erica D. Smith, Kelly Radtke, Mari Rossi et al. · Human Mutation · 2017 · 108 citations · Full text

Exome Sequencing, Genetic Epidemiology, Diagnosis +19

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 · 54 citations · Full text

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15