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Year | Number of Results |
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2018 | 4 |
2022 | 1 |
2023 | 2 |
2024 | 1 |
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Page 1
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Hum Mutat. 2018 Nov;39(11):1517-1524. doi: 10.1002/humu.23626. Epub 2018 Sep 7.
Hum Mutat. 2018.
PMID: 30192042
Free PMC article.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V, Byrne AB, Feng BJ, Pagel KA, Mooney SD, Karchin R, O'Donnell-Luria A, Harrison SM, Tavtigian SV, Greenblatt MS, Biesecker LG, Radivojac P, Brenner SE; ClinGen Sequence Variant Interpretation Working Group.
Pejaver V, et al.
Am J Hum Genet. 2022 Dec 1;109(12):2163-2177. doi: 10.1016/j.ajhg.2022.10.013. Epub 2022 Nov 21.
Am J Hum Genet. 2022.
PMID: 36413997
Free PMC article.
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Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh R, Harrison SM, Rehm HL, Plon SE, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group.
Ghosh R, et al.
Hum Mutat. 2018 Nov;39(11):1525-1530. doi: 10.1002/humu.23642.
Hum Mutat. 2018.
PMID: 30311383
Free PMC article.
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Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Walker LC, Hoya M, Wiggins GAR, Lindy A, Vincent LM, Parsons MT, Canson DM, Bis-Brewer D, Cass A, Tchourbanov A, Zimmermann H, Byrne AB, Pesaran T, Karam R, Harrison SM, Spurdle AB; ClinGen Sequence Variant Interpretation Working Group.
Walker LC, et al.
Am J Hum Genet. 2023 Jul 6;110(7):1046-1067. doi: 10.1016/j.ajhg.2023.06.002. Epub 2023 Jun 22.
Am J Hum Genet. 2023.
PMID: 37352859
Free PMC article.
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The ACMG/AMP reputable source criteria for the interpretation of sequence variants.
Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group.
Biesecker LG, et al.
Genet Med. 2018 Dec;20(12):1687-1688. doi: 10.1038/gim.2018.42.
Genet Med. 2018.
PMID: 29543229
Free PMC article.
No abstract available.
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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI).
Tavtigian SV, et al.
Genet Med. 2018 Sep;20(9):1054-1060. doi: 10.1038/gim.2017.210. Epub 2018 Jan 4.
Genet Med. 2018.
PMID: 29300386
Free PMC article.
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ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.
Biesecker LG, Byrne AB, Harrison SM, Pesaran T, Schäffer AA, Shirts BH, Tavtigian SV, Rehm HL; ClinGen Sequence Variant Interpretation Working Group.
Biesecker LG, et al.
Am J Hum Genet. 2024 Jan 4;111(1):24-38. doi: 10.1016/j.ajhg.2023.11.009. Epub 2023 Dec 15.
Am J Hum Genet. 2024.
PMID: 38103548
Free article.
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