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H. Rehm · SciRah

Researcher profile · Semantic Scholar

H. Rehm

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H. Rehm — researcher profile on SciRah

h-index: 86
Works: 321
Citations: 61K

Most-cited papers

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
V. Pejaver, Alicia B. Byrne, Bing Feng, K. Pagel +21 more
2022American Journal of Human Genetics483 citations Open access
Semantic Scholar
GA4GH: International policies and standards for data sharing across genomic research and healthcare
H. Rehm, A. Page, Lindsay D. Smith, Jeremy B. Adams +198 more
2021Cell Genomics306 citations Open access
Semantic Scholar
Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
K. Karczewski, M. Solomonson, Katherine R. Chao, J. Goodrich +41 more
2022Cell Genomics266 citations Open access
Semantic Scholar
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
Si-Wei Chen, L. Francioli, J. Goodrich, Ryan L. Collins +40 more
2022bioRxiv261 citations Open access
Semantic Scholar
Recommendations for clinical interpretation of variants found in non-coding regions of the genome
J. Ellingford, J. Ahn, R. Bagnall, D. Baralle +23 more
2021Genome Medicine230 citations Open access
Semantic Scholar
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
Marina T. DiStefano, Scott Goehringer, L. Babb, F. Alkuraya +42 more
2022medRxiv149 citations Open access
Semantic Scholar
FAVOR: functional annotation of variants online resource and annotator for variation across the human genome
Hufeng Zhou, Theodore Arapoglou, Xi-Hao Li, Zi-Lin Li +20 more
2022bioRxiv143 citations Open access
Semantic Scholar
The landscape of tolerated genetic variation in humans and primates
Hong Gao, T. Hamp, Jeffrey M. Ede, J. Schraiber +93 more
2023bioRxiv138 citations Open access
Semantic Scholar
A harmonized public resource of deeply sequenced diverse human genomes
Zan Koenig, M. Yohannes, Lethukuthula L Nkambule, Xue-Fang Zhao +17 more
2023bioRxiv135 citations Open access
Semantic Scholar
Best practices for the interpretation and reporting of clinical whole genome sequencing
C. Austin-Tse, V. Jobanputra, D. Perry, D. Bick +19 more
2022npj Genomic Medicine134 citations Open access
Semantic Scholar
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
C. Rehder, Lora J. H. Bean, D. Bick, Elizabeth C. Chao +6 more
2021Genetics in Medicine134 citations Open access
Semantic Scholar
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Kristen M. Laricchia, N. Lake, Nicholas A. Watts, Megan Shand +13 more
2021bioRxiv127 citations Open access
Semantic Scholar
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
H. Rehm, J. Alaimo, S. Aradhya, P. Bayrak-Toydemir +58 more
2023Genetics in Medicine118 citations Open access
Semantic Scholar
Problems with Using Polygenic Scores to Select Embryos
P. Turley, M. Meyer, Nancy Wang, D. Cesarini +9 more
2021New England Journal of Medicine118 citations Open access
Semantic Scholar
Mono- and biallelic variant effects on disease at biobank scale
H. Heyne, J. Karjalainen, K. Karczewski, S. Lemmelä +7 more
2023Nature86 citations Open access
Semantic Scholar
Discordant Results Between Conventional Newborn Screening and Genomic Sequencing in the BabySeq Project
M. Wojcik, Tian Zhang, O. Ceyhan-Birsoy, C. Genetti +8 more
2021Genetics in Medicine70 citations Open access
Semantic Scholar
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Samantha M. Baxter, J. Posey, N. Lake, N. Sobreira +238 more
2021medRxiv65 citations Open access
Semantic Scholar
Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Ma Li, A. A. Tayoun, Marina T. DiStefano, A. Pandya +4 more
2022Genetics in Medicine61 citations Open access
Semantic Scholar
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization
Carrie L. Blout Zawatsky, Nidhi S. Shah, K. Machini, Emma F. Perez +16 more
2021medRxiv61 citations Open access
Semantic Scholar
Utilizing ClinGen Gene-Disease Validity and Dosage Sensitivity Curations to Inform Variant Classification
C. Thaxton, Molly E. Good, Marina T. DiStefano, Xi Luo +6 more
2021Human Mutation56 citations Open access
Semantic Scholar
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
E. Dolzhenko, B. Weisburd, K. Ibañez, I. Rajan-Babu +22 more
2021Genome Medicine55 citations Open access
Semantic Scholar
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Chelsea Lowther, E. Valkanas, J. Giordano, Harold Wang +41 more
2023American Journal of Human Genetics54 citations Open access
Semantic Scholar
International federation of genomic medicine databases using GA4GH standards
A. Thorogood, H. Rehm, P. Goodhand, A. Page +11 more
2021Cell Genomics52 citations Open access
Semantic Scholar
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification
A. Wagner, L. Babb, G. Alterovitz, M. Baudis +24 more
2021Cell Genomics52 citations Open access
Semantic Scholar
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program
E. Venner, D. Muzny, Joshua D. Smith, K. Walker +17 more
2022Genome Medicine47 citations Open access
Semantic Scholar
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy
E. Verdura, A. Rodríguez-Palmero, V. Vélez-Santamaría, Laura Planas-Serra +31 more
2021Brain : a journal of neurology47 citations Open access
Semantic Scholar
Rare penetrant mutations confer severe risk of common diseases
Petko P. Fiziev, J. McRae, J. Ulirsch, J. Dron +17 more
2023Science46 citations Open access
Semantic Scholar
Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation
C. Thaxton, J. Goldstein, Marina T. DiStefano, Kathleen E. Wallace +5 more
2022Cell Genomics45 citations Open access
Semantic Scholar
Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking
K. Boycott, Danielle R. Azzariti, A. Hamosh, H. Rehm
2022Human Mutation45 citations Open access
Semantic Scholar
Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry.
E. Jordan, D. Kinnamon, G. Haas, M. Hofmeyer +34 more
2023Journal of the American Medical Association (JAMA)44 citations Open access
Semantic Scholar
Evaluating the impact of in silico predictors on clinical variant classification
Emma Wilcox, Mahdi Sarmady, Bryan Wulf, Matt W. Wright +3 more
2021bioRxiv43 citations Open access
Semantic Scholar
Monogenic and Polygenic Contributions to QTc Prolongation in the Population
V. Nauffal, Valerie N. Morrill, S. Jurgens, S. Choi +34 more
2021medRxiv42 citations Open access
Semantic Scholar
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Robert C. Green, Nidhi S. Shah, C. Genetti, Timothy W. Yu +13 more
2023American Journal of Human Genetics41 citations Open access
Semantic Scholar
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
Chen-Jie Zeng, L. Bastarache, Ran Tao, E. Venner +29 more
2022JAMA Oncology41 citations Open access
Semantic Scholar
Tracking genetic variants in the biomedical literature using LitVar 2.0
Alexis Allot, Chih-Hsuan Wei, L. Phan, T. Hefferon +3 more
2023Nature Genetics37 citations Open access
Semantic Scholar
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
M. Patel, Marina T. DiStefano, A. Oza, Madeline Y. Hughes +47 more
2021Genetics in Medicine37 citations Open access
Semantic Scholar
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Eleanor G. Seaby, H. Rehm, A. O'Donnell-Luria
2021Frontiers in Genetics35 citations Open access
Semantic Scholar
Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights
Jennifer M. Yeh, Natasha K. Stout, Aeysha B. Chaudhry, Kurt D. Christensen +11 more
2021Genetics in Medicine35 citations Open access
Semantic Scholar
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
M. Singer-Berk, Sanna Gudmundsson, S. Baxter, Eleanor G. Seaby +9 more
2023American Journal of Human Genetics28 citations Open access
Semantic Scholar
Rare penetrant mutations confer severe risk of common diseases
Petko P. Fiziev, J. McRae, J. Ulirsch, J. Dron +17 more
2023medRxiv27 citations Open access
Semantic Scholar
Time to make rare disease diagnosis accessible to all
H. Rehm
2022Nature Medicine27 citations Open access
Semantic Scholar
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.
Patricia L. Weng, A. Majmundar, Kamal Khan, Tze Y. Lim +63 more
2021American Journal of Human Genetics23 citations Open access
Semantic Scholar
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
Eleanor G. Seaby, D. Smedley, A. L. Taylor Tavares, H. Brittain +5 more
2022Genetics in Medicine21 citations Open access
Semantic Scholar
Genomic considerations for FHIR®; eMERGE implementation lessons
M. Murugan, L. Babb, C. O. Taylor, Luke V. Rasmussen +22 more
2021Journal of Biomedical Informatics21 citations Open access
Semantic Scholar
Discordant calls across genotype discovery approaches elucidate variants with systematic errors
E. Atkinson, M. Artomov, K. Karczewski, A. Loboda +4 more
2023bioRxiv20 citations Open access
Semantic Scholar
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, T. Hughes, C. Lareau +10 more
2022i Medicina20 citations Open access
Semantic Scholar
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Yongqiang Zhang, Georgios Tachtsidis, Claudia Schob, M. Koko +19 more
2021Human Molecular Genetics19 citations Open access
Semantic Scholar
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
S. L. Stenton, M. O’Leary, G. Lemire, G. VanNoy +70 more
2023Human Genomics18 citations Open access
Semantic Scholar
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Eleanor G. Seaby, N. S. Thomas, A. Webb, H. Brittain +61 more
2022Human Genetics16 citations Open access
Semantic Scholar
Insights from a genome-wide truth set of tandem repeat variation
B. Weisburd, Grace Tiao, H. Rehm
2023bioRxiv15 citations Open access
Semantic Scholar

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