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A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.

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Title: A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.
Authors: Mirshahi UL; Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Best AF; Biostatistics Branch, Biometric Research Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Chen ZE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Hu Y; Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania.; Department of Endocrinology, Main Line Health System, Wynnewood, Pennsylvania., Haley JS; Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania., Golden A; Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania., Stahl R; Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania., Manickam K; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio., Carr AG; Weststat, Inc, Rockville, Maryland., Harney LA; Weststat, Inc, Rockville, Maryland., Field A; ResourcePath, Sterling, Virginia., Hatton J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Schultz KAP; Cancer and Blood Disorders, Children's Minnesota, Minneapolis.; International Pleuropulmonary Blastoma/ DICER1 Registry, Minneapolis, Minnesota.; International Ovarian and Testicular Stromal Tumor Registry, Minneapolis, Minnesota., Bauer AJ; The Thyroid Center, Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Hill DA; ResourcePath, Sterling, Virginia.; Division of Pathology and Center for Cancer and Immunology Research, Children's National Health System, Washington, DC.; Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC., Rosenberg PS; Biostatistics Branch, Biometric Research Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health, Rockville, Maryland., Murray MF; Department of Genetics, Yale School of Medicine, New Haven, Connecticut., Carey DJ; Geisinger Clinic, Geisinger Health System, Danville, Pennsylvania., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Source: JAMA network open [JAMA Netw Open] 2021 Feb 01; Vol. 4 (2), pp. e210112. Date of Electronic Publication: 2021 Feb 01.
Publication Type: Journal Article; Research Support, N.I.H., Intramural
Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE
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