Concepedia

Rebecca Mar‐Heyming

RM

Statistics

Publications

8

Citations

440

H-Index

8

Active since

2008

Affiliations

Ambry Genetics (United States)(Current)

ARUP Laboratories (United States)

LabCorp (United States)

University of California, Los Angeles

Harvard University

Rebecca Mar‐Heyming is an author at Ambry Genetics (United States) specializing in genetic epidemiology, medicine, and pathology.

Top concepts

Publications per year

2008–2020

8

Publications

8

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen, Andrea M. Oza, Ignacio del Castillo et al. · Genetics in Medicine · 2019 · 98 citations · Full text

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Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification

Gregory J. Hogan, Valentina Vysotskaia, Kyle A. Beauchamp et al. · Clinical Chemistry · 2018 · 75 citations · Full text

Systematic design and comparison of expanded carrier screening panels

Kyle A. Beauchamp, Dale Muzzey, Kenny K. Wong et al. · Genetics in Medicine · 2017 · 70 citations · Full text

, , +21

Association of Stearoyl-CoA Desaturase 1 Activity With Familial Combined Hyperlipidemia

Rebecca Mar‐Heyming, Makoto Miyazaki, Daphna Weissglas‐Volkov et al. · Arteriosclerosis Thrombosis and Vascular Biology · 2008 · 68 citations · Full text

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

Steven M. Harrison, Jill Dolinksy, Wenjie Chen et al. · Human Mutation · 2018 · 65 citations

, , +28

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