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Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Genet Med. 2022 Sep;24(9):1899-1908. doi: 10.1016/j.gim.2022.05.001. Epub 2022 May 26.
Genet Med. 2022.
PMID: 35616647
Free PMC article.
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: wilcox eh.
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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Evaluating the impact of in silico predictors on clinical variant classification.
Wilcox EH, Sarmady M, Wulf B, Wright MW, Rehm HL, Biesecker LG, Abou Tayoun AN.
Wilcox EH, et al.
Genet Med. 2022 Apr;24(4):924-930. doi: 10.1016/j.gim.2021.11.018. Epub 2021 Dec 23.
Genet Med. 2022.
PMID: 34955381
Free PMC article.
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Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project.
Wilcox E, Harrison SM, Lockhart E, Voelkerding K, Lubin IM; ClinGen Expert Panels; Rehm HL, Kalman LV, Funke B.
Wilcox E, et al.
J Mol Diagn. 2021 Nov;23(11):1500-1505. doi: 10.1016/j.jmoldx.2021.07.018. Epub 2021 Aug 9.
J Mol Diagn. 2021.
PMID: 34384894
Free PMC article.
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