Nicholas Pachter

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen et al. · Genome biology · 2016 · 397 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

Marjolijn Renard, Catherine Francis, Rajarshi Ghosh et al. · Journal of the American College of Cardiology · 2018 · 302 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

Elizabeth Page, Elizabeth Bancroft, Mark N. Brook et al. · European Urology · 2019 · 240 citations · Full text

Medicine, Oncology, Urology +17

Renal Tumors Associated With Germline SDHB Mutation Show Distinctive Morphology

Anthony J. Gill, Nicholas Pachter, Angela Chou et al. · The American Journal of Surgical Pathology · 2011 · 191 citations

Medicine, Oncology, Pathology +10

Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification

Michael T. Parsons, Emma Tudini, Hongyan Li et al. · Human Mutation · 2019 · 152 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17