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One or more keywords matched the following properties of PLON, SHARON
overview Dr. Sharon Plon is a board-certified medical geneticist and a longstanding researcher in the areas of cancer genetics, including the discovery of new cancer susceptibility genes and early implementation of genomic testing in medicine. At Texas Children’s Hospital, she founded the Cancer Genetics Clinic in 1995 and is Director of the Texas Children’s Cancer Genetics and Genomics Program. Dr. Plon is holds a Dan L Duncan Cancer Center Professorship in the Departments of Pediatrics/Hematology-Oncology, Molecular and Human Genetics and Human Genome Sequencing Center. Drs. Plon and D. William Parsons were principal investigators of the NHGRI/NCI-funded BASIC3 clinical trial on the incorporation of exome sequencing into the care of newly diagnosed childhood cancer patients and this study was then expanded into several different centers in Texas (KidsCanSeq trial). Since 2013, Dr. Plon has served as one of the Principal Investigators of the NIH-supported Clinical Genome (ClinGen) Resource and chairs the ClinGen hereditary cancer clinical domain working group. She is also working closely with Dr. Philip Lupo on a population-based study to understand the association between birth defects and cancer risk in children. Dr. Plon recently served on the Board of Directors of the American Society of Human Genetics and was a member of the Human Genome Research Advisory Council of the National Human Genome Research Institute from 2017-2020.
One or more keywords matched the following items that are connected to PLON, SHARON
Item TypeName
Academic Article Next-generation sequencing in the clinic: are we ready?
Academic Article Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Academic Article Incidental copy-number variants identified by routine genome testing in a clinical population.
Concept National Human Genome Research Institute (U.S.)
Concept Genome, Human
Concept Genome-Wide Association Study
Academic Article A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record.
Academic Article Experiences and attitudes of genome investigators regarding return of individual genetic test results.
Academic Article Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.
Academic Article Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings.
Academic Article Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients.
Academic Article Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing.
Academic Article ClinGen--the Clinical Genome Resource.
Academic Article CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
Academic Article Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Academic Article Recommendations for the integration of genomics into clinical practice.
Academic Article Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Academic Article Molecular diagnostic experience of whole-exome sequencing in adult patients.
Academic Article Family-based exome-wide assessment of maternal genetic effects on susceptibility to childhood B-cell acute lymphoblastic leukemia in hispanics.
Academic Article Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Academic Article ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants.
Academic Article Lessons learned from additional research analyses of unsolved clinical exome cases.
Academic Article Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Academic Article Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility.
Academic Article Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
Academic Article The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations.
Academic Article Insights from the 2018 Biology of Genomes meeting.
Academic Article Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
Academic Article Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Academic Article Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Academic Article Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Academic Article Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Academic Article Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Academic Article ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Academic Article Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Academic Article Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Academic Article Framework for microRNA variant annotation and prioritization using human population and disease datasets.
Grant Genomic Approaches to Defining Inherited Basis of Childhood Cancer
Grant Clinically Relevant Genome Variation Database
Grant Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas: The KidsCanSeq Study
Grant Clinical Genome Resource (ClinGen)
Concept Whole Genome Sequencing
Academic Article Genetic Predisposition to Childhood Cancer in the Genomic Era.
Academic Article A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen).
Academic Article Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG).
Academic Article Ancestry-specific predisposing germline variants in cancer.
Grant Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)
Academic Article ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Academic Article Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
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