Comprehensive Diagnostic Testing for Stereocilin

Two-sided confidence intervals for the single proportion: comparison of seven methods

Robert G. Newcombe · Statistics in Medicine · 1998 · 5K citations

The accessible chromatin landscape of the human genome

Robert E. Thurman, Eric Rynes, Richard Humbert et al. · Nature · 2012 · 2.8K citations · Full text

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green, Jonathan S. Berg, Wayne W. Grody et al. · Genetics in Medicine · 2013 · 2.5K citations · Full text

Next-generation Sequencing, Acmg Recommendations, Diagnosis +9

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 910 citations · Full text

Translational Medicine, Dna Sequencing, Sequencing +8

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome

Michel De Vos, Bruce E. Hayward, Susan Picton et al. · The American Journal of Human Genetics · 2004 · 196 citations · Full text

Engineering, Somatic Variant, Genetic Disorder +6