Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa

Fast and accurate short read alignment with Burrows–Wheeler transform

Heng Li, Richard Durbin · Bioinformatics · 2009 · 62.8K citations · Full text

Life Sciences, Bioinformatics, Biology +12

Strong association of de novo copy number mutations with sporadic schizophrenia

Bin Xu, Johannes L. Roos, Shawn Levy et al. · Nature Genetics · 2008 · 828 citations

Life Sciences, Genetics, Molecular Genetics +15

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Kimberly Splinter, David R. Adams, Carlos A. Bacino et al. · New England Journal of Medicine · 2018 · 374 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Next‐generation genetic testing for retinitis pigmentosa

Kornelia Neveling, Rob W.J. Collin, Christian Gilissen et al. · Human Mutation · 2012 · 287 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Mark Consugar, Daniel Navarro-Gomez, Emily Place et al. · Genetics in Medicine · 2014 · 257 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16