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ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller DT, Lee K, Chung WK, Gordon AS, Herman GE, Klein TE, Stewart DR, Amendola LM, Adelman K, Bale SJ, Gollob MH, Harrison SM, Hershberger RE, McKelvey K, Richards CS, Vlangos CN, Watson MS, Martin CL; ACMG Secondary Findings Working Group. Miller DT, et al. Among authors: harrison sm. Genet Med. 2021 Aug;23(8):1381-1390. doi: 10.1038/s41436-021-01172-3. Epub 2021 May 20. Genet Med. 2021. PMID: 34012068 Free article. No abstract available.
Using ClinVar as a Resource to Support Variant Interpretation.
Harrison SM, Riggs ER, Maglott DR, Lee JM, Azzariti DR, Niehaus A, Ramos EM, Martin CL, Landrum MJ, Rehm HL. Harrison SM, et al. Curr Protoc Hum Genet. 2016 Apr 1;89:8.16.1-8.16.23. doi: 10.1002/0471142905.hg0816s89. Curr Protoc Hum Genet. 2016. PMID: 27037489 Free PMC article.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA, Caleshu C, Morales A, Buchan J, Wolf Z, Harrison SM, Cook S, Dillon MW, Garcia J, Haverfield E, Jongbloed JDH, Macaya D, Manrai A, Orland K, Richard G, Spoonamore K, Thomas M, Thomson K, Vincent LM, Walsh R, Watkins H, Whiffin N, Ingles J, van Tintelen JP, Semsarian C, Ware JS, Hershberger R, Funke B. Kelly MA, et al. Among authors: harrison sm. Genet Med. 2018 Mar;20(3):351-359. doi: 10.1038/gim.2017.218. Epub 2018 Jan 4. Genet Med. 2018. PMID: 29300372 Free PMC article.
ClinGen's GenomeConnect registry enables patient-centered data sharing.
Savatt JM, Azzariti DR, Faucett WA, Harrison S, Hart J, Kattman B, Landrum MJ, Ledbetter DH, Miller VR, Palen E, Rehm HL, Rhode J, Turner S, Vidal JA, Wain KE, Riggs ER, Martin CL. Savatt JM, et al. Hum Mutat. 2018 Nov;39(11):1668-1676. doi: 10.1002/humu.23633. Hum Mutat. 2018. PMID: 30311371 Free PMC article.
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: harrison sm. Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645. Hum Mutat. 2018. PMID: 30311389 Free PMC article.
229 results