Rehm, Heidi L.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 32,594

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

ClinGen — The Clinical Genome Resource

Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

Cited by 1,496

Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,224

Genomic data in the all of us research program

The All of Us Research Program Genomics Investigators, Manuscript Writing Group, Bick, A. G., Metcalf, G. A., Mayo, K. R., Lichtenstein, L., Rura, S., Carroll, R. J., Musick, A., Linder, J. E., et al. (2024) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 829

Genetic Misdiagnoses and the Potential for Health Disparities

Manrai, A. K., Funke, B. H., Rehm, H. L., Olesen, M. S., Maron, B. A., Szolovits, P., Margulies, D. M., Loscalzo, J., & Kohane, I. S. (2016) · New England Journal of Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

Cited by 808

A brief history of human disease genetics

Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 697

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Pejaver, V., Byrne, A. B., Feng, B.-J., Pagel, K. A., Mooney, S. D., Karchin, R., O’Donnell-Luria, A., Harrison, S. M., Tavtigian, S. V., Greenblatt, M. S., et al. (2022) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 589

How many rare diseases are there?

Haendel, M., Vasilevsky, N., Unni, D., Bologa, C., Harris, N., Rehm, H., Hamosh, A., Baynam, G., Groza, T., McMurry, J., et al. (2020) · Nature Reviews Drug Discovery

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 554

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 447

The All of Us Research Program: Data quality, utility, and diversity

Ramirez, A. H., Sulieman, L., Schlueter, D. J., Halvorson, A., Qian, J., Ratsimbazafy, F., Loperena, R., Mayo, K., Basford, M., Deflaux, N., et al. (2022) · Patterns

Electronic Health Records SystemsEthics in Clinical Research

Cited by 352

Lack of diversity in genomic databases is a barrier to translating precision medicine research into practice

Landry, L. G., Ali, N., Williams, D. R., Rehm, H. L., & Bonham, V. L. (2018) · Health Affairs

Race, Genetics, and SocietyEthics in Clinical Research

Cited by 344

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Karczewski, K. J., Solomonson, M., Chao, K. R., Goodrich, J. K., Tiao, G., Lu, W., Riley-Gillis, B. M., Tsai, E. A., Kim, H. I., Zheng, X., et al. (2022) · Cell Genomics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 284

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

Harrison, S. M., Dolinsky, J. S., Knight Johnson, A. E., Pesaran, T., Azzariti, D. R., Bale, S., Chao, E. C., Das, S., Vincent, L., & Rehm, H. L. (2017) · Genetics in Medicine

Genomics and Rare DiseasesClinical Laboratory Practices and Quality Control

Cited by 234

Problems with Using Polygenic Scores to Select Embryos

Turley, P., Meyer, M. N., Wang, N., Cesarini, D., Hammonds, E., Martin, A. R., Neale, B. M., Rehm, H. L., Wilkins-Haug, L., Benjamin, D. J., et al. (2021) · New England Journal of Medicine

Prenatal Screening and DiagnosticsAssisted Reproductive Technology and Twin Pregnancy

Cited by 187

The landscape of tolerated genetic variation in humans and primates

Gao, H., Hamp, T., Ede, J., Schraiber, J. G., McRae, J., Singer-Berk, M., Yang, Y., Dietrich, A., Fiziev, P., Kuderna, L., et al. (2023) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 183

Research Directions in the Clinical Implementation of Pharmacogenomics: An Overview of US Programs and Projects

Volpi, S., Bult, C. J., Chisholm, R. L., Deverka, P. A., Ginsburg, G. S., Jacob, H. J., Kasapi, M., McLeod, H. L., Roden, D. M., Williams, M. S., et al. (2018) · Clinical Pharmacology & Therapeutics

Pharmacogenetics and Drug MetabolismGenetic Associations and Epidemiology

Cited by 135

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study

Morales, A., Kinnamon, D. D., Jordan, E., Platt, J., Vatta, M., Dorschner, M. O., Starkey, C. A., Mead, J. O., Ai, T., Burke, W., et al. (2020) · Circulation: Genomic and Precision Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

Cited by 114

Mondo: Unifying diseases for the world, by the world

Vasilevsky, N. A., Matentzoglu, N. A., Toro, S., Flack, J. E., Hegde, H., Unni, D. R., Alyea, G. F., Amberger, J. S., Babb, L., Balhoff, J. P., et al. (2022) · medRxiv

Biomedical Text Mining and OntologiesSemantic Web and Ontologies

Cited by 107

Disease Boundaries in the Retina of Patients with Usher Syndrome Caused by MYO7A Gene Mutations

Jacobson, S. G., Aleman, T. S., Sumaroka, A., Cideciyan, A. V., Roman, A. J., Windsor, E. A. M., Schwartz, S. B., Rehm, H. L., & Kimberling, W. J. (2009) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 93

Time to make rare disease diagnosis accessible to all

Rehm, H. L. (2022) · Nature Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 33

Advancing Understanding of Inequities in Rare Disease Genomics

Serrano, J. G., O'Leary, M., VanNoy, G. E., Mangilog, B. E., Holm, I. A., Fraiman, Y. S., Rehm, H. L., O'Donnell-Luria, A., & Wojcik, M. H. (2023) · Clinical Therapeutics

Genomics and Rare DiseasesEthics in Clinical Research

Cited by 25

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Higgins, J., Dalgleish, R., Dunnen, J. T., Barsh, G., Freeman, P. J., Cooper, D. N., Cullinan, S., Davies, K. E., Dorkins, H., Gong, L., et al. (2021) · Human Mutation

Academic Writing and PublishingGenomics and Rare Diseases

Cited by 13