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Direct Assessment of Hereditary Hemochromatosis in Preimplantation Genetic Testing.
F S Sci. 2024 Dec 21:S2666-335X(24)00083-1. doi: 10.1016/j.xfss.2024.12.003. Online ahead of print.
F S Sci. 2024.
PMID: 39716515
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler G, Birch AH, Schreiber-Agus N, Cai X, Cai G, Shi L, Yu C, Larmore AM, Mendiratta-Vij G, Elkhoury L, Dillon MW, Zhu J, Mclellan AS, Suer FE, Webb BD, Schadt EE, Kornreich R, Edelmann L.
Akler G, et al. Among authors: suer fe.
Mol Genet Genomic Med. 2020 Feb;8(2):e1053. doi: 10.1002/mgg3.1053. Epub 2019 Dec 27.
Mol Genet Genomic Med. 2020.
PMID: 31880409
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.
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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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.
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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