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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Amendola LM, Jarvik GP, Leo MC, McLaughlin HM, Akkari Y, Amaral MD, Berg JS, Biswas S, Bowling KM, Conlin LK, Cooper GM, Dorschner MO, Dulik MC, Ghazani AA, Ghosh R, Green RC, Hart R, Horton C, Johnston JJ, Lebo MS, Milosavljevic A, Ou J, Pak CM, Patel RY, Punj S, Richards CS, Salama J, Strande NT, Yang Y, Plon SE, Biesecker LG, Rehm HL. Amendola LM, et al. Among authors: biesecker lg. Am J Hum Genet. 2016 Jun 2;98(6):1067-1076. doi: 10.1016/j.ajhg.2016.03.024. Epub 2016 May 12. Am J Hum Genet. 2016. PMID: 27181684 Free PMC article.
ACMG secondary findings 2.0.
Biesecker LG. Biesecker LG. Genet Med. 2017 May;19(5):604. doi: 10.1038/gim.2017.27. Epub 2017 Apr 13. Genet Med. 2017. PMID: 28406490 Free article. No abstract available.
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM; ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI). Abou Tayoun AN, et al. Among authors: biesecker lg. 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.
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan-Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Goddard KAB; ClinGen Resource. Webber EM, et al. Among authors: biesecker lg. Hum Mutat. 2018 Nov;39(11):1677-1685. doi: 10.1002/humu.23631. Hum Mutat. 2018. PMID: 30311382 Free PMC article.
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. Among authors: biesecker lg. Hum Mutat. 2018 Nov;39(11):1525-1530. doi: 10.1002/humu.23642. Hum Mutat. 2018. PMID: 30311383 Free PMC article.
430 results