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
Monogenic and polygenic contributions to QTc prolongation in the population
Victor Nauffal , Valerie N Morrill , Sean J Jurgens , Seung Hoan Choi
Circulation 145 ( 20) 1524 -1533
18
2022
International federation of genomic medicine databases using GA4GH standards
Adrian Thorogood , Heidi L Rehm , Peter Goodhand , Angela JH Page
Cell Genomics 1 ( 2)
26
2021
Rare coding variants associated with electrocardiographic intervals identify monogenic arrhythmia susceptibility genes: a multi-ancestry analysis
Seung Hoan Choi , Sean J Jurgens , Christopher M Haggerty , Amelia W Hall
Circulation: Genomic and Precision Medicine 14 ( 4) e003300 -e003300
7
2021
Association of pathogenic variants in hereditary cancer genes with multiple diseases
Chenjie Zeng , Lisa A Bastarache , Ran Tao , Eric Venner
JAMA oncology 8 ( 6) 835 -844
25
2022
Familial hypercholesterolemia in the electronic medical records and genomics network: prevalence, penetrance, cardiovascular risk, and outcomes after return of results
Ozan Dikilitas , Alborz Sherafati , Seyedmohammad Saadatagah , Benjamin A Satterfield
Circulation: Genomic and Precision Medicine 16 ( 2) e003816 -e003816
7
2023
Familial Hypercholesterolemia in the eMERGE Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes after Return of Results
Ozan Dikilitas , Alborz Sherafati , Seyedmohammad Saadatagah , Benjamin A Satterfield
Circulation. Genomic and precision medicine 16 ( 2) e003816 -e003816
2023
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen , Ruebena Dawes , Hyung Chul Kim , Sarah L Stenton
medRxiv 2024.04. 07.24305438 -2024.04. 07.24305438
2024
Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes
Valerie N Morrill , Jennifer L Halford , Seung Hoan Choi , Sean J Jurgens
medRxiv 2021.08. 28.21262571 -2021.08. 28.21262571
2021
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
Moriel Singer-Berk , Sanna Gudmundsson , Samantha Baxter , Eleanor G Seaby
The American Journal of Human Genetics 110 ( 9) 1496 -1508
8
2023
Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data
Moriel Singer-Berk , Sanna Gudmundsson , Samantha Baxter , Eleanor G Seaby
medRxiv
2023
Correction: Corrigendum: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C Green , Jonathan S Berg , Wayne W Grody , Sarah S Kalia
Genetics in Medicine 19 ( 5) 606 -606
30
2017
Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates
Hana Zouk , Wanfeng Yu , Andrea Oza , Megan Hawley
Genetics in Medicine 24 ( 2) 454 -462
6
2022
Management of Secondary Genomic Findings COMMENT
Alexander E Katz , Robert L Nussbaum , Benjamin D Solomon , Heidi L Rehm
OBSTETRICAL & GYNECOLOGICAL SURVEY 75 ( 12) 728 -730
2020
Tracking genetic variants in the biomedical literature using LitVar 2.0
Alexis Allot , Chih-Hsuan Wei , Lon Phan , Timothy Hefferon
Nature Genetics 55 ( 6) 901 -903
7
2023
Clinical genome sequencing
Robert C Green , Heidi L Rehm , Isaac S Kohane
Genomic and personalized medicine 1 102 -122
59
2012
Challenges in the clinical use of genome sequencing
Robert C Green , Heidi L Rehm , I Kohane
Genomic and Personalized Medicine, 2nd edition (HFG Willard and GS Ginsburg, eds.). Academic Press, New York
4
2013
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
Alex H Wagner , Lawrence Babb , Gil Alterovitz , Michael Baudis
Cell genomics 1 ( 2)
23
2021
Development and application of a computable genotype model in the GA4GH Variation Representation Specification
Wesley Goar , Lawrence Babb , Srikar Chamala , Melissa Cline
383 -394
4
2022
Psychosocial effect of newborn genomic sequencing on families in the BabySeq Project: a randomized clinical trial
Stacey Pereira , Hadley Stevens Smith , Leslie A Frankel , Kurt D Christensen
JAMA pediatrics 175 ( 11) 1132 -1141
43
2021
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
Robert C Green , Nidhi Shah , Casie A Genetti , Timothy Yu
The American Journal of Human Genetics 110 ( 7) 1034 -1045
14
2023