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7 results
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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Hum Mutat. 2018 Nov;39(11):1593-1613. doi: 10.1002/humu.23630.
Hum Mutat. 2018.
PMID: 30311386
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: cushman bj.
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.
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ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group.
DiStefano MT, et al. Among authors: cushman bj.
Genet Med. 2019 Oct;21(10):2239-2247. doi: 10.1038/s41436-019-0487-0. Epub 2019 Mar 21.
Genet Med. 2019.
PMID: 30894701
Free PMC article.
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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group.
Patel MJ, et al. Among authors: cushman bj.
Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6.
Genet Med. 2021.
PMID: 34230634
Free PMC article.
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ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data.
Henrie A, Hemphill SE, Ruiz-Schultz N, Cushman B, DiStefano MT, Azzariti D, Harrison SM, Rehm HL, Eilbeck K.
Henrie A, et al.
Hum Mutat. 2018 Aug;39(8):1051-1060. doi: 10.1002/humu.23555. Epub 2018 Jun 21.
Hum Mutat. 2018.
PMID: 29790234
Free PMC article.
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Correction: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, Duzkale H, Matsunaga T, Shen J, Zhang W, Kenna M, Schimmenti LA, Tekin M, Rehm HL, Tayoun ANA, Amr SS; ClinGen Hearing Loss Clinical Domain Working Group.
DiStefano MT, et al. Among authors: cushman bj.
Genet Med. 2019 Oct;21(10):2409. doi: 10.1038/s41436-019-0553-7.
Genet Med. 2019.
PMID: 31114025
Free article.
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Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.
Grant AR, Cushman BJ, Cavé H, Dillon MW, Gelb BD, Gripp KW, Lee JA, Mason-Suares H, Rauen KA, Tartaglia M, Vincent LM, Zenker M.
Grant AR, et al. Among authors: cushman bj.
Hum Mutat. 2018 Nov;39(11):1485-1493. doi: 10.1002/humu.23624.
Hum Mutat. 2018.
PMID: 30311384
Free PMC article.
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