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
JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia
Jacob M Rosenberg , Joshua M Peters , Travis Hughes , Caleb A Lareau
Med 3 ( 1) 42 -57
6
2022
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Heidi L Rehm , Angela JH Page , Lindsay Smith , Jeremy B Adams
Cell genomics 1 ( 2)
62
2021
Supplemental Materials for
Narmeen Rehman , Heidi L Rehm , Marc S Williams , MD6 Lisa Diller
Ann C. Wu 1500 ( 1) 3
2015
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
Vikas Pejaver , Alicia B Byrne , Bing-Jian Feng , Kymberleigh A Pagel
The American Journal of Human Genetics 109 ( 12) 2163 -2177
2
2022
Variant interpretation using population databases: Lessons from gnomAD
Sanna Gudmundsson , Moriel Singer‐Berk , Nicholas A Watts , William Phu
Human mutation 43 ( 8) 1012 -1030
75
2022
Problems with using polygenic scores to select embryos
Patrick Turley , Michelle N Meyer , Nancy Wang , David Cesarini
New England Journal of Medicine 385 ( 1) 78 -86
74
2021
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Kristen M Laricchia , Nicole J Lake , Nicholas A Watts , Megan Shand
Genome Research 32 ( 3) 569 -582
20
2022
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization
Carrie L Blout Zawatsky , Nidhi Shah , Kalotina Machini , Emma Perez
The American Journal of Human Genetics 108 ( 12) 2224 -2237
19
2021
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Jamie M Ellingford , Joo Wook Ahn , Richard D Bagnall , Diana Baralle
Genome Medicine 14 ( 1) 73
20
2022
seqr: A web-based analysis and collaboration tool for rare disease genomics
Lynn S Pais , Hana Snow , Ben Weisburd , Shifa Zhang
Human mutation 43 ( 6) 698 -707
13
2022
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project
Sarah L Stenton , Melanie C O’Leary , Gabrielle Lemire , Grace E VanNoy
Human Genomics 18 ( 1) 44 -44
3
2024
The gene curation coalition: a global effort to harmonize gene–disease evidence resources
Marina T DiStefano , Scott Goehringer , Lawrence Babb , Fowzan S Alkuraya
Genetics in Medicine 24 ( 8) 1732 -1742
70
2022
Importance of adopting standardized MANE transcripts in clinical reporting
Caroline F Wright , David R FitzPatrick , James S Ware , Heidi L Rehm
Genetics in Medicine 25 ( 2)
3
2023
The landscape of tolerated genetic variation in humans and primates
Hong Gao , Tobias Hamp , Jeffrey Ede , Joshua G Schraiber
Science 380 ( 6648) eabn8153 -eabn8153
50
2023
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome
Hufeng Zhou , Theodore Arapoglou , Xihao Li , Zilin Li
Nucleic acids research 51 ( D1) D1300 -D1311
42
2023
A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xga.
William J Lane , Maria Aguad , Robin Smeland‐Wagman , Sunitha Vege
Transfusion 59 ( 3) 908 -915
8
2019
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
Siwei Chen , Laurent C Francioli , Julia K Goodrich , Ryan L Collins
BioRxiv 2022.03. 20.485034 -2022.03. 20.485034
174
2022
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
Konrad J Karczewski , Matthew Solomonson , Katherine R Chao , Julia K Goodrich
Cell Genomics 2 ( 9)
107
2022
A genomic mutational constraint map using variation in 76,156 human genomes
Siwei Chen , Laurent C Francioli , Julia K Goodrich , Ryan L Collins
Nature 625 ( 7993) 92 -100
91
2024
Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes
Konrad J Karczewski , Matthew Solomonson , Katherine R Chao , Julia K Goodrich
Medrxiv 2021.06. 19.21259117 -2021.06. 19.21259117
27
2021