Concepedia

Steven Keiles

SK

10

Publications

895

Citations

10

H-Index

2005

Active since

Affiliations

Ambry Genetics (United States)(Current)

Stanford University

Quest Diagnostics (United States)

Johns Hopkins University

California Department of Public Health

Steven Keiles is an author at Ambry Genetics (United States) specializing in medicine, molecular diagnostics, and genetics.

Top concepts

Publications per year

2005–2015

10

Publications

10

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients

Holly LaDuca, Aaron J. Stuenkel, Jill S. Dolinsky et al. · Genetics in Medicine · 2014 · 335 citations · Full text

Comprehensive functional analysis of chymotrypsin C ( <i>CTRC</i> ) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk

Sebastian Beer, Jiayi Zhou, András Szabó et al. · Gut · 2012 · 108 citations · Full text

Identification of CFTR, PRSS1, and SPINK1 Mutations in 381 Patients With Pancreatitis

Steven Keiles, Anja Kammesheidt · Pancreas · 2006 · 98 citations

The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

Hansook Kim Chong, Tao Wang, Hsiao-Mei Lu et al. · PLoS ONE · 2014 · 86 citations · Full text

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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Izabela Karbassi, Glenn A. Maston, Angela Love et al. · Human Mutation · 2015 · 70 citations · Full text

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