Plon, Sharon E.

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

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 1,360

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

Plon, S. E., Eccles, D. M., Easton, D., Foulkes, W. D., Genuardi, M., Greenblatt, M. S., Hogervorst, F. B. L., Hoogerbrugge, N., Spurdle, A. B., Tavtigian, S. V., et al. (2008) · Human Mutation

BRCA gene mutations in cancerGenomics and Rare Diseases

Cited by 912

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

Association Between Osteosarcoma and Deleterious Mutations in the RECQL4 Gene in Rothmund-Thomson Syndrome

Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., et al. (2003) · JNCI Journal of the National Cancer Institute

Sarcoma Diagnosis and TreatmentGenomics and Rare Diseases

Cited by 338

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis

Gomez-Ospina, N., Potter, C. J., Xiao, R., Manickam, K., Kim, M.-S., Kim, K. H., Shneider, B. L., Picarsic, J. L., Jacobson, T. A., Zhang, J., et al. (2016) · Nature Communications

Drug Transport and Resistance MechanismsPediatric Hepatobiliary Diseases and Treatments

Cited by 300

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines

Ghosh, R., Oak, N., & Plon, S. E. (2017) · Genome biology

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 233

Lessons learned from additional research analyses of unsolved clinical exome cases

Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 230

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

Hicks, S., Wheeler, D. A., Plon, S. E., & Kimmel, M. (2011) · Human Mutation

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 223

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

Friedman, J. M., Bombard, Y., Cornel, M. C., Fernandez, C. V., Junker, A. K., Plon, S. E., Stark, Z., & Knoppers, B. M. (2019) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 44

Using multiplexed functional data to reduce variant classification inequities in underrepresented populations

Dawood, M., Fayer, S., Pendyala, S., Post, M., Kalra, D., Patterson, K., Venner, E., Muffley, L. A., Fowler, D. M., Rubin, A. F., et al. (2024) · Genome Medicine

Genomics and Rare DiseasesRace, Genetics, and Society

Cited by 31

Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study

Mangum, R., Reuther, J., Sen Baksi, K., Gandhi, I., Zabriskie, R. C., Recinos, A., Raesz-Martinez, R., Lin, F. Y., Potter, S. L., Sher, A. C., et al. (2023) · Pediatric Hematology and Oncology

Cancer Genomics and DiagnosticsGlioma Diagnosis and Treatment

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