Heidi Rehm
机构: Professor of Pathology, Massachusetts General Hospital, Broad Institute of MIT and Harvard, Harvard
主页: the-tgg.org
每年引用次数
引用次数
引用: 60,527
H-指数: 90
I10-指数 : 254
出版物: 441
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Marilyn M Li , Ahmad Abou Tayoun , Marina DiStefano , Arti Pandya
Genetics in Medicine 24 ( 7) 1392 -1406
31
2022
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation
Courtney Thaxton , Jennifer Goldstein , Marina DiStefano , Kathleen Wallace
Cell genomics 2 ( 5)
19
2022
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
Angharad M Roberts , Marina T DiStefano , Erin Rooney Riggs , Katherine S Josephs
Genetics in Medicine 26 ( 2) 101029 -101029
1
2024
Mutations in spliceosomal genes PPIL1 and PRP17 cause neurodegenerative pontocerebellar hypoplasia with microcephaly
Guoliang Chai , Alice Webb , Chen Li , Danny Antaki
Neuron 109 ( 2) 241 -256. e9
35
2021
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans
Peter Kraft , Heidi L Rehm , Gina M Peloso , James G Wilson
Accessing clinical-grade genomic classification data through the ClinGen Data Platform
Karen P Dalton , Heidi L Rehm , Matt W Wright , Mark E Mandell
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 28 531 -531
2
2023
22. Reimagining and enhancing the Clinical Genome Resource (ClinGen) Somatic Cancer Clinical Domain Working Group
Jason Saliba , Gordana Raca , Angshumoy Roy , Ian King
Cancer Genetics 268 8 -8
2022
ClinGen — The Clinical Genome Resource
Heidi L. Rehm , Jonathan S. Berg , Lisa D. Brooks , Carlos D. Bustamante
The New England Journal of Medicine 372 ( 23) 2235 -2242
935
2015
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
Ryan J Schmidt , Marcie Steeves , Pinar Bayrak-Toydemir , Katherine A Benson
Genetics in Medicine 26 ( 3) 101036 -101036
6
2024
Evaluating the impact of in silico predictors on clinical variant classification
Emma H Wilcox , Mahdi Sarmady , Bryan Wulf , Matt W Wright
Genetics in Medicine 24 ( 4) 924 -930
22
2022
The landscape of reported VUS in multi-gene panel and genomic testing: time for a change
Heidi L Rehm , Joseph T Alaimo , Swaroop Aradhya , Pinar Bayrak-Toydemir
Genetics in Medicine 25 ( 12) 100947 -100947
28
2023
Harmonizing variant classification for return of results in the All of Us Research Program
Steven M Harrison , Christina A Austin‐Tse , Serra Kim , Matthew Lebo
Human mutation 43 ( 8) 1114 -1121
7
2022
Creation of an expert curated variant list for clinical genomic test development and validation: A ClinGen and GeT-RM collaborative project
Emma Wilcox , Steven M Harrison , Edward Lockhart , Karl Voelkerding
The Journal of Molecular Diagnostics 23 ( 11) 1500 -1505
3
2021
Genetic sex validation for sample tracking in next-generation sequencing clinical testing
Jianhong Hu , Viktoriya Korchina , Hana Zouk , Maegan V Harden
BMC Research Notes 17 ( 1) 62 -62
1
2024
Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests
Heidi L Rehm , Joseph T Alaimo , Swaroop Aradhya , Pinar Bayrak-Toydemir
medRxiv 2022.09. 21.22279949 -2022.09. 21.22279949
1
2022
Genetic Sex Validation for Sample Tracking in Clinical Testing
Jianhong Hu , Viktoriya Korchina , Hana Zouk , Maegan V Harden
Research Square
2023
Genetic architecture of dilated cardiomyopathy in individuals of African and European ancestry
Elizabeth Jordan , Daniel D Kinnamon , Garrie J Haas , Mark Hofmeyer
JAMA 330 ( 5) 432 -441
6
2023
STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci
Laurel Hiatt , Ben Weisburd , Egor Dolzhenko , Grace E VanNoy
medRxiv 2024.05. 21.24307682 -2024.05. 21.24307682
2024
Will variants of uncertain significance still exist in 2030?
Douglas M Fowler , Heidi L Rehm
The American Journal of Human Genetics 111 ( 1) 5 -10
9
2024
Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics
Raye L Alford , Thomas B Friedman , Bronya J B Keats , William J Kimberling
Genetics in Medicine 5 ( 4) 338 -341
4
2003