SHARON PLON to Databases, Genetic
This is a "connection" page, showing publications SHARON PLON has written about Databases, Genetic.
Connection Strength
2.605
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Framework for microRNA variant annotation and prioritization using human population and disease datasets. Hum Mutat. 2019 01; 40(1):73-89.
Score: 0.498
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Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Biol. 2017 Nov 28; 18(1):225.
Score: 0.466
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The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation. Genet Med. 2025 Jan; 27(1):101228.
Score: 0.375
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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Nov 07; 111(11):2427-2443.
Score: 0.187
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Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms. Annu Rev Biomed Data Sci. 2024 08; 7(1):31-50.
Score: 0.185
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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: 0.133
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BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS Genet. 2018 12; 14(12):e1007752.
Score: 0.126
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ClinGen Allele Registry links information about genetic variants. Hum Mutat. 2018 11; 39(11):1690-1701.
Score: 0.124
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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: 0.123
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ClinGen--the Clinical Genome Resource. N Engl J Med. 2015 06 04; 372(23):2235-42.
Score: 0.098
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Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat. 2008 Nov; 29(11):1273-81.
Score: 0.062
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Using multiplexed functional data to reduce variant classification inequities in underrepresented populations. Genome Med. 2024 Dec 03; 16(1):143.
Score: 0.047
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Implementation of a dyadic nomenclature for monogenic diseases. Am J Hum Genet. 2024 Sep 05; 111(9):1810-1818.
Score: 0.047
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Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel. Hum Mutat. 2018 11; 39(11):1581-1592.
Score: 0.031
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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: 0.031
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Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14.
Score: 0.030
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Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 2016 11 04; 8(1):117.
Score: 0.027
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A robust estimator of mutation rates. Mutat Res. 2009 Feb 10; 661(1-2):101-9.
Score: 0.016