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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.
Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS. Rivera-Muñoz EA, et al. Among authors: craigen w. Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645. Hum Mutat. 2018. PMID: 30311389 Free PMC article.
Mutation and expression analysis of the endoglin gene in hereditary hemorrhagic telangiectasia reveals null alleles.
Gallione CJ, Klaus DJ, Yeh EY, Stenzel TT, Xue Y, Anthony KB, McAllister KA, Baldwin MA, Berg JN, Lux A, Smith JD, Vary CP, Craigen WJ, Westermann CJ, Warner ML, Miller YE, Jackson CE, Guttmacher AE, Marchuk DA. Gallione CJ, et al. Among authors: craigen wj. Hum Mutat. 1998;11(4):286-94. doi: 10.1002/(SICI)1098-1004(1998)11:4<286::AID-HUMU6>3.0.CO;2-B. Hum Mutat. 1998. PMID: 9554745
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ. Dimmock DP, et al. Among authors: craigen wj. Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519. Hum Mutat. 2008. PMID: 18205204
Molecular findings among patients referred for clinical whole-exome sequencing.
Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM. Yang Y, et al. Among authors: craigen wj. JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601. JAMA. 2014. PMID: 25326635 Free PMC article.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Milko LV, Funke BH, Hershberger RE, Azzariti DR, Lee K, Riggs ER, Rivera-Munoz EA, Weaver MA, Niehaus A, Currey EL, Craigen WJ, Mao R, Offit K, Steiner RD, Martin CL, Rehm HL, Watson MS, Ramos EM, Plon SE, Berg JS. Milko LV, et al. Genet Med. 2019 Apr;21(4):987-993. doi: 10.1038/s41436-018-0267-2. Epub 2018 Sep 5. Genet Med. 2019. PMID: 30181607 Free PMC article.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group. Zastrow DB, et al. Among authors: craigen wj. Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649. Hum Mutat. 2018. PMID: 30311390 Free PMC article.
Clinical and laboratory interpretation of mitochondrial mRNA variants.
Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Wong LC, et al. Among authors: craigen wj. Hum Mutat. 2020 Oct;41(10):1783-1796. doi: 10.1002/humu.24082. Epub 2020 Jul 22. Hum Mutat. 2020. PMID: 32652755
291 results