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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN; ClinGen Hearing Loss Clinical Domain Working Group. Oza AM, et al. Among authors: abou tayoun an. Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630. Hum Mutat. 2018. PMID: 30311386 Free PMC article.
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group. Brnich SE, et al. Among authors: abou tayoun an. Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2. Genome Med. 2019. PMID: 31892348 Free PMC article.
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
DiStefano MT, Hemphill SE, Cushman BJ, Bowser MJ, Hynes E, Grant AR, Siegert RK, Oza AM, Gonzalez MA, Amr SS, Rehm HL, Abou Tayoun AN. DiStefano MT, et al. Among authors: abou tayoun an. J Mol Diagn. 2018 Nov;20(6):789-801. doi: 10.1016/j.jmoldx.2018.06.005. Epub 2018 Aug 8. J Mol Diagn. 2018. PMID: 30096381 Free PMC article.
65 results