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Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M, Hebrard M, Tirado-Magallanes R, Tan JHJ, Jeyakani J, Li Z, Chai JF, Chong YS, Davila S, Goh LL, Lee ES, Wong E, Wong TY; SG10K_Health Consortium; Prabhakar S, Liu J, Cheng CY, Eisenhaber B, Karnani N, Leong KP, Sim X, Yeo KK, Chambers JC, Tai ES, Tan P, Jamuar SS, Ngeow J, Lim WK. Chan SH, et al. Nat Commun. 2022 Nov 5;13(1):6694. doi: 10.1038/s41467-022-34116-9. Nat Commun. 2022. PMID: 36335097 Free PMC article.
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.
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.
Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Bhatia NS, Lim JY, Bonnard C, Kuan JL, Brett M, Wei H, Cham B, Chin H, Bosso-Lefevre C, Dharuman P, Escande-Beillard N, Devasia AG, Goh CYJ, Kam S, Liew WK, Liew WK, Lin G, Jain K, Ng AY, Subramanian D, Xie M, Tan YM, Tawari NR, Tiang Z, Ting TW, Tohari S, Tong CK, Lezhava A, Ng SB, Law HY, Venkatesh B, Tomar S, Sethi R, Tan G, Shanmugasundaram A, Goh DL, Lai PS, Lai A, Tan ES, Ng I, Reversades B, Tan EC, Foo R, Jamuar SS; SUREKids Working Group. Bhatia NS, et al. Among authors: jain k. Arch Dis Child. 2021 Jan;106(1):31-37. doi: 10.1136/archdischild-2020-319180. Epub 2020 Aug 20. Arch Dis Child. 2021. PMID: 32819910
1,559 results