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
Coordinate synthesis and turnover of heat shock proteins in Borrelia burgdorferi: degradation of DnaK during recovery from heat shock.
R G Cluss , A S Goel , H L Rehm , J G Schoenecker
Infection and Immunity 64 ( 5) 1736 -1743
16
1996
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M Baxter , Jennifer E Posey , Nicole J Lake , Nara Sobreira
Genetics in Medicine 24 ( 4) 784 -797
18
2022
Principles and Recommendations for Standardizing the Use of the Next-Generation Sequencing Variant File in Clinical Settings.
Ira M Lubin , Nazneen Aziz , Lawrence J Babb , Dennis Ballinger
J Mol Diagn 19 ( 3) 417 -26
25
2017
Scotopic and Photopic ERG Responses in Pediatric Patients with Usher Syndrome
Anne Fulton , Anne Fulton , Anne Moskowitz , Anne Moskowitz
Investigative Ophthalmology & Visual Science 55 ( 13) 332 -332
2014
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Patricia L Weng , Amar J Majmundar , Kamal Khan , Tze Y Lim
American Journal of Human Genetics 108 ( 2) 357 -367
2021
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Mayher J Patel , Marina T DiStefano , Andrea M Oza , Madeline Y Hughes
medRxiv
10
2021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project
Monica H Wojcik , Tian Zhang , Ozge Ceyhan-Birsoy , Casie A Genetti
Genetics in Medicine 1 -4
2021
Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights.
Jennifer M Yeh , Natasha K Stout , Aeysha Chaudhry , Kurt D Christensen
Genetics in Medicine 1 -6
2021
Genomic Considerations for FHIR®; eMERGE Implementation Lessons
David R Crosslin , Eric Venner , Hakon Hakonarson , Robert R Freimuth
Journal of Biomedical Informatics 118 103795 -103795
2021
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort
Lilian Downie , Jane L Halliday , Rachel A Burt , Sebastian Lunke
BMJ Paediatrics Open 1 ( 1)
8
2017
Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs.
Heidi L Rehm
Genetics in Medicine 20 ( 3) 378 -379
2018
A new era in the interpretation of human genomic variation.
Heidi L Rehm
Genetics in Medicine 19 ( 10) 1092 -1095
19
2017
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.
Rashesh V Sanghvi , , Christian J Buhay , Bradford C Powell
Genetics in Medicine 20 ( 8) 855 -866
18
2018
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Lynn W Bush , Anita E Beck , Leslie G Biesecker , James P Evans
Genetics in Medicine 20 ( 2) 169 -171
6
2018
Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing
Christopher M Haggerty , Cynthia A James , Hugh Calkins , Crystal Tichnell
Genetics in Medicine 19 ( 11) 1245 -1252
31
2017
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.
Kurt D Christensen , Jason L Vassy , Kathryn A Phillips , Carrie L Blout
Genetics in Medicine 20 ( 12) 1544 -1553
15
2018
Response to Biesecker and Harrison.
C Sue Richards , , Nazneen Aziz , Sherri Bale
Genetics in Medicine 20 ( 12) 1689 -1690
3
2018
The MedSeq Project: A randomized trial of integrating whole genome sequencing into clinical medicine
Jason L Vassy , Denise M Lautenbach , Heather M McLaughlin , Sek Won Kong
Trials 15 ( 1) 85 -85
143
2014
A new age in the genetics of deafness.
Heidi L Rehm , Cynthia C Morton
Genetics in Medicine 1 ( 6) 295 -304
7
1999
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection
Daniel S Herman , G Kees Hovingh , Oleg Iartchouk , Heidi L Rehm
Nature Methods 6 ( 7) 507 -510
66
2009