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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.
Misattributed parentage as an unanticipated finding during exome/genome sequencing: current clinical laboratory practices and an opportunity for standardization.
Eno C, Bayrak-Toydemir P, Bean L, Braxton A, Chao EC, El-Khechen D, Esplin ED, Friedman B, Hagman KDF, Hambuch T, Hernandez A, Juusola J, Londre G, Machado J, Mao R, Mighion L, Rehm HL, Ward P, Deignan JL. Eno C, et al. Genet Med. 2019 Apr;21(4):861-866. doi: 10.1038/s41436-018-0265-4. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214068 Free article.
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.
Enhancements to the National HIV Surveillance System, United States, 2013-2023.
Satcher Johnson A, Peruski A, Oster AM, Balaji A, Siddiqi AE, Sweeney P, Hernandez AL. Satcher Johnson A, et al. Among authors: hernandez al. Public Health Rep. 2024 Jun 1:333549241253092. doi: 10.1177/00333549241253092. Online ahead of print. Public Health Rep. 2024. PMID: 38822672
Correction: Integrated biosensors for monitoring microphysiological systems.
Mou L, Mandal K, Mecwan MM, Hernandez AL, Maity S, Sharma S, Herculano RD, Kawakita S, Jucaud V, Dokmeci MR, Khademhosseini A. Mou L, et al. Among authors: hernandez al. Lab Chip. 2024 Apr 16;24(8):2358-2359. doi: 10.1039/d4lc90026j. Lab Chip. 2024. PMID: 38501991 Free PMC article.
111 results