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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.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hatton JN, Frone MN, Cox HC, Crowley SB, Hiraki S, Yokoyama NN, Abul-Husn NS, Amatruda JF, Anderson MJ, Bofill-De Ros X, Carr AG, Chao EC, Chen KS, Gu S, Higgs C, Machado J, Ritter D, Schultz KA, Soper ER, Wu MK, Mester JL, Kim J, Foulkes WD, Witkowski L, Stewart DR. Hatton JN, et al. Hum Mutat. 2023;2023:9537832. doi: 10.1155/2023/9537832. Epub 2023 Mar 29. Hum Mutat. 2023. PMID: 38084291 Free PMC article.
Clinical variants paired with phenotype: A rich resource for brain gene curation.
Chopra M, Savatt JM, Bingaman TI, Good ME, Morgan A, Cooney C, Rossel AM, VanHoute B, Cordova I, Mahida S, Lanzotti V, Baldridge D, Gurnett CA, Piven J, Hazlett H, Pomeroy SL, Sahin M, Payne PRO, Riggs ER, Constantino JN; Brain Gene Registry Consortium. Chopra M, et al. Genet Med. 2024 Mar;26(3):101035. doi: 10.1016/j.gim.2023.101035. Epub 2023 Dec 4. Genet Med. 2024. PMID: 38059438 Free PMC article.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt RJ, Steeves M, Bayrak-Toydemir P, Benson KA, Coe BP, Conlin LK, Ganapathi M, Garcia J, Gollob MH, Jobanputra V, Luo M, Ma D, Maston G, McGoldrick K, Palculict TB, Pesaran T, Pollin TI, Qian E, Rehm HL, Riggs ER, Schilit SLP, Sergouniotis PI, Tvrdik T, Watkins N, Zec L, Zhang W, Lebo MS; ClinGen Low Penetrance/Risk Allele Working Group. Schmidt RJ, et al. Genet Med. 2024 Mar;26(3):101036. doi: 10.1016/j.gim.2023.101036. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054408
Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships-allelic requirement, inheritance modes, and disease mechanisms.
Roberts AM, DiStefano MT, Riggs ER, Josephs KS, Alkuraya FS, Amberger J, Amin M, Berg JS, Cunningham F, Eilbeck K, Firth HV, Foreman J, Hamosh A, Hay E, Leigh S, Martin CL, McDonagh EM, Perrett D, Ramos EM, Robinson PN, Rath A, Sant DW, Stark Z, Whiffin N, Rehm HL, Ware JS. Roberts AM, et al. Genet Med. 2024 Feb;26(2):101029. doi: 10.1016/j.gim.2023.101029. Epub 2023 Nov 17. Genet Med. 2024. PMID: 37982373 Free PMC article.
Decoding Genetics, Ancestry, and Geospatial Context for Precision Health.
Koyama S, Wang Y, Paruchuri K, Uddin MM, Cho SMJ, Urbut SM, Haidermota S, Hornsby WE, Green RC, Daly MJ, Neale BM, Ellinor PT, Smoller JW, Lebo MS, Karlson EW, Martin AR, Natarajan P. Koyama S, et al. medRxiv [Preprint]. 2023 Oct 25:2023.10.24.23297096. doi: 10.1101/2023.10.24.23297096. medRxiv. 2023. PMID: 37961173 Free PMC article. Preprint.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Singer-Berk M, Gudmundsson S, Baxter S, Seaby EG, England E, Wood JC, Son RG, Watts NA, Karczewski KJ, Harrison SM, MacArthur DG, Rehm HL, O'Donnell-Luria A. Singer-Berk M, et al. Am J Hum Genet. 2023 Sep 7;110(9):1496-1508. doi: 10.1016/j.ajhg.2023.08.005. Epub 2023 Aug 25. Am J Hum Genet. 2023. PMID: 37633279 Free PMC article.
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R. Flowers M, et al. Mol Genet Metab. 2023 Nov;140(3):107668. doi: 10.1016/j.ymgme.2023.107668. Epub 2023 Jul 26. Mol Genet Metab. 2023. PMID: 37549443
38 results