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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
338432015
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
29742013
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
16142015
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
16032015
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
15142014
A genomic mutational constraint map using variation in 76,156 human genomes
S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ...
Nature 625 (7993), 92-100, 2024
12612024
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
11562013
TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells
DP Corey, J García-Añoveros, JR Holt, KY Kwan, SY Lin, MA Vollrath, ...
Nature 432 (7018), 723-730, 2004
9262004
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
8752018
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
8552016
A brief history of human disease genetics
M Claussnitzer, JH Cho, R Collins, NJ Cox, ET Dermitzakis, ME Hurles, ...
Nature 577 (7789), 179-189, 2020
8312020
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
7532005
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
6972016
Variant interpretation using population databases: Lessons from gnomAD
S Gudmundsson, M Singer‐Berk, NA Watts, W Phu, JK Goodrich, ...
Human mutation 43 (8), 1012-1030, 2022
6472022
Genomic data in the all of us research program
Biobank, Mayo Blegen Ashley L. 18 Wirkus Samantha J. 18 Wagner Victoria A ...
Nature 627 (8003), 340-346, 2024
6192024
How many rare diseases are there?
M Haendel, N Vasilevsky, D Unni, C Bologa, N Harris, H Rehm, ...
Nature reviews drug discovery 19 (2), 77-78, 2020
6092020
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource
NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ...
The American Journal of Human Genetics 100 (6), 895-906, 2017
6042017
Building the foundation for genomics in precision medicine
SJ Aronson, HL Rehm
Nature 526 (7573), 336-342, 2015
6042015
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
5922017
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
5632015
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Articles 1–20