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
Introduction of genomics into prenatal diagnostics
Michael E Talkowski , Heidi L Rehm
The Lancet 393 ( 10173) 719 -721
6
2019
A systematic approach to the reporting of medically relevant findings from whole genome sequencing.
Heather M McLaughlin , Ozge Ceyhan-Birsoy , Kurt D Christensen , Isaac S Kohane
BMC Medical Genetics 15 ( 1) 134 -134
68
2014
Good laboratory practice for clinical next-generation sequencing informatics pipelines
Amy S Gargis , Lisa Kalman , David P Bick , Cristina da Silva
Nature Biotechnology 33 ( 7) 689 -693
104
2015
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Catherine A Brownstein , Alan H Beggs , Nils Homer , Barry Merriman
Genome Biology 15 ( 3) 1 -18
332
2014
A novel clinician interface to improve clinician access to up-to-date genetic results.
Allison R Wilcox , Pamela M Neri , Lynn A Volk , Lisa P Newmark
Journal of the American Medical Informatics Association 21
14
2014
MutaDATABASE: a centralized and standardized DNA variation database.
Sherri Bale , Martijn Devisscher , Wim Van Criekinge , Heidi L Rehm
Nature Biotechnology 29 ( 2) 117 -118
30
2011
Reply to Clarity and claims in variation/mutation databasing
Sherri Bale , Heidi L Rehm , Robert Nussbaum , Madhuri Hegde
Nature Biotechnology 29 ( 9) 792 -794
2011
Assuring the quality of next-generation sequencing in clinical laboratory practice
Amy S Gargis , Lisa Kalman , Meredith W Berry , David P Bick
Nature Biotechnology 30 ( 11) 1033 -1036
476
2012
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays
Prachi Kothiyal , Stephanie Cox , Jonathan Ebert , Ammar Husami
BMC Biotechnology 10 ( 1) 10 -10
47
2010
Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study
William J Lane , Connie M Westhoff , Nicholas S Gleadall , Maria Aguad
The Lancet Haematology 5 ( 6)
35
2018
A Framework for Automated Gene Selection in Genomic Screening
Lorena Lazo de la Vega , Wanfeng Yu , Kalotina Machini , Christina Austin-Tse
medRxiv
2020
Comparison of viral levels in individuals with or without symptoms at time of COVID-19 testing among 32,480 residents and staff of nursing homes and assisted living facilities in Massachusetts.
Niall J Lennon , Roby P Bhattacharyya , Michael J Mina , Heidi L Rehm
medRxiv
27
2020
Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.
Naif A M Almontashiri , Abdulrahman Alswaid , Andrea Oza , Khalid A Al-Mazrou
Genetics in Medicine 20 ( 5) 536 -544
11
2018
Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin
Sami S Amr , Elissa Murphy , Elizabeth Duffy , Rojeen Niazi
Clinical Chemistry 64 ( 4) 705 -714
10
2018
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort
Girish V Putcha , Bassem A Bejjani , Stacey Bleoo , Jessica K Booker
Genetics in Medicine 9 ( 7) 413 -426
141
2007
A novel custom resequencing array for dilated cardiomyopathy
Rebekah S Zimmerman , Stephanie Cox , Neal K Lakdawala , Allison Cirino
Genetics in Medicine 12 ( 5) 268 -278
75
2010
The Ancestral Pace of Variant Reclassification.
Sharon E Plon , Heidi L Rehm
Journal of the National Cancer Institute 110 ( 10) 1133 -1134
2018
Prospective evaluation of genome sequencing versus standard-of-care as a first molecular diagnostic test
Deanna G Brockman , Christina A Austin-Tse , Renée C Pelletier , Caroline Harley
medRxiv
2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants
Adam S Gordon , Hana Zouk , Eric Venner , Christine M Eng
Genetics in Medicine 22 ( 9) 1470 -1477
48
2020
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study
M Ragan Hart , Barbara B Biesecker , Carrie L Blout , Kurt D Christensen
Genetics in Medicine 21 ( 5) 1100 -1110
120
2019