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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 · 462 citations · Full text

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 · 354 citations · Full text

Molecular Diagnosis, Functional Genomics, Sequencing +13

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 159 citations · Full text

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

POGZ truncating alleles cause syndromic intellectual disability

Janson J. White, Christine R. Beck, Tamar Harel et al. · Genome Medicine · 2016 · 104 citations · Full text