Novel mutations of the LHCGR gene in two families with 46,XY DSD causing Leydig cell hypoplasia I

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

CADD: predicting the deleteriousness of variants throughout the human genome

Philipp Rentzsch, Daniela Witten, Gregory M. Cooper et al. · Nucleic Acids Research · 2018 · 3.9K citations · Full text

Life Sciences, Bioinformatics, Genetics +17

Consensus Statement on Management of Intersex Disorders

Peter A. Lee, Christopher P. Houk, S. Faisal Ahmed et al. · PEDIATRICS · 2006 · 2.3K citations

Medicine, Pediatrics, Pediatric Orthopaedics +6

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

Hanka Venselaar, Tim AH te Beek, Remko Kuipers et al. · BMC Bioinformatics · 2010 · 1.2K citations · Full text

Life Sciences, Bioinformatics, Biology +16

Consensus statement on management of intersex disorders

Ieuan A. Hughes, Christopher P. Houk, S. Faisal Ahmed et al. · Journal of Pediatric Urology · 2006 · 686 citations

Medicine, Pediatrics, Pediatric Orthopaedics +6