Follow
Heidi Rehm
Heidi Rehm
Professor of Pathology, Massachusetts General Hospital, Broad Institute of MIT and Harvard, Harvard
Verified email at broadinstitute.org - Homepage
Title
Cited by
Cited by
Year
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the …
S Richards, N Aziz, S Bale, D Bick, S Das, J Gastier-Foster, WW Grody, ...
Genetics in medicine 17 (5), 405-423, 2015
183942015
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
RC Green, JS Berg, WW Grody, SS Kalia, BR Korf, CL Martin, AL McGuire, ...
Genetics in medicine 15 (7), 565-574, 2013
24542013
Guidelines for investigating causality of sequence variants in human disease
DG MacArthur, TA Manolio, DP Dimmock, HL Rehm, J Shendure, ...
Nature 508 (7497), 469-476, 2014
12682014
ACMG Laboratory Quality Assurance Committee Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of …
S Richards, N Aziz, S Bale, D Bick, S Das, J Gastier-Foster, WW Grody, ...
Genet Med 17 (5), 405-424, 2015
9852015
ACMG clinical laboratory standards for next-generation sequencing
HL Rehm, SJ Bale, P Bayrak-Toydemir, JS Berg, KK Brown, JL Deignan, ...
Genetics in medicine 15 (9), 733-747, 2013
9292013
ClinGen—the clinical genome resource
HL Rehm, JS Berg, LD Brooks, CD Bustamante, JP Evans, MJ Landrum, ...
New England Journal of Medicine 372 (23), 2235-2242, 2015
9222015
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells
DP Corey, J Garcia-Anoveros, JR Holt, KY Kwan, SY Lin, MA Vollrath, ...
Nature 432 (7018), 723-730, 2004
8412004
GJB2 mutations and degree of hearing loss: a multicenter study
RL Snoeckx, PLM Huygen, D Feldmann, S Marlin, F Denoyelle, ...
The American Journal of Human Genetics 77 (6), 945-957, 2005
6192005
Genetic misdiagnoses and the potential for health disparities
AK Manrai, BH Funke, HL Rehm, MS Olesen, BA Maron, P Szolovits, ...
New England Journal of Medicine 375 (7), 655-665, 2016
5702016
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium
LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ...
The American Journal of Human Genetics 98 (6), 1067-1076, 2016
5242016
Assuring the quality of next-generation sequencing in clinical laboratory practice
AS Gargis, L Kalman, MW Berry, DP Bick, DP Dimmock, T Hambuch, F Lu, ...
Nature biotechnology 30 (11), 1033-1036, 2012
4752012
Building the foundation for genomics in precision medicine
SJ Aronson, HL Rehm
Nature 526 (7573), 336-342, 2015
4532015
Shared genetic causes of cardiac hypertrophy in children and adults
H Morita, HL Rehm, A Menesses, B McDonough, AE Roberts, ...
New England Journal of Medicine 358 (18), 1899-1908, 2008
4372008
Disease-targeted sequencing: a cornerstone in the clinic
HL Rehm
Nature reviews genetics 14 (4), 295-300, 2013
4282013
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa
JD Eudy, MD Weston, SF Yao, DM Hoover, HL Rehm, M Ma-Edmonds, ...
Science 280 (5370), 1753-1757, 1998
4261998
The Matchmaker Exchange: a platform for rare disease gene discovery
AA Philippakis, DR Azzariti, S Beltran, AJ Brookes, CA Brownstein, ...
Human mutation 36 (10), 915-921, 2015
4132015
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC)
KE Caudle, HM Dunnenberger, RR Freimuth, JF Peterson, JD Burlison, ...
Genetics in Medicine 19 (2), 215-223, 2017
3892017
Return of genomic results to research participants: the floor, the ceiling, and the choices in between
GP Jarvik, LM Amendola, JS Berg, K Brothers, EW Clayton, W Chung, ...
The American Journal of Human Genetics 94 (6), 818-826, 2014
3812014
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
AN Abou Tayoun, T Pesaran, MT DiStefano, A Oza, HL Rehm, ...
Human mutation 39 (11), 1517-1524, 2018
3662018
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity
AA Alfares, MA Kelly, G McDermott, BH Funke, MS Lebo, SB Baxter, ...
Genetics in Medicine 17 (11), 880-888, 2015
3632015
The system can't perform the operation now. Try again later.
Articles 1–20