SHARON PLON to Genome, Human
This is a "connection" page, showing publications SHARON PLON has written about Genome, Human.
Connection Strength
3.382
-
Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat. 2018 11; 39(11):1542-1552.
Score: 0.367
-
Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Biol. 2017 Nov 28; 18(1):225.
Score: 0.344
-
Molecular diagnostic experience of whole-exome sequencing in adult patients. Genet Med. 2016 07; 18(7):678-85.
Score: 0.300
-
Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5.
Score: 0.282
-
The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation. Genet Med. 2025 Jan; 27(1):101228.
Score: 0.277
-
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource. Am J Hum Genet. 2025 Feb 06; 112(2):215-223.
Score: 0.141
-
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). Genet Med. 2022 05; 24(5):986-998.
Score: 0.115
-
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. Genome Med. 2022 01 18; 14(1):6.
Score: 0.115
-
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). Cold Spring Harb Mol Case Stud. 2019 10; 5(5).
Score: 0.098
-
Framework for microRNA variant annotation and prioritization using human population and disease datasets. Hum Mutat. 2019 01; 40(1):73-89.
Score: 0.092
-
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. Hum Mutat. 2018 11; 39(11):1553-1568.
Score: 0.092
-
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592.
Score: 0.092
-
Updated recommendation for the benign stand-alone ACMG/AMP criterion. Hum Mutat. 2018 11; 39(11):1525-1530.
Score: 0.092
-
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Hum Mutat. 2018 11; 39(11):1614-1622.
Score: 0.092
-
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet. 2018 09 06; 103(3):319-327.
Score: 0.091
-
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. Genet Med. 2019 04; 21(4):987-993.
Score: 0.091
-
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants. Genome Med. 2017 01 12; 9(1):3.
Score: 0.081
-
Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084.
Score: 0.077
-
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 06 02; 98(6):1051-1066.
Score: 0.077
-
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 06 02; 98(6):1067-1076.
Score: 0.077
-
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record. J Am Med Inform Assoc. 2015 Nov; 22(6):1231-42.
Score: 0.073
-
ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42.
Score: 0.072
-
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med. 2013 Nov; 15(11):860-7.
Score: 0.065
-
A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record. Genet Med. 2013 Oct; 15(10):824-32.
Score: 0.064
-
Next-generation sequencing in the clinic: are we ready? Nat Rev Genet. 2012 11; 13(11):818-24.
Score: 0.061
-
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). Genet Med. 2020 07; 22(7):1142-1148.
Score: 0.025
-
Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings. J Clin Oncol. 2014 Jul 20; 32(21):2203-5.
Score: 0.017
-
Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med. 2012 Apr; 14(4):405-10.
Score: 0.014