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Page 1
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. Among authors: bylstra y. Nat Commun. 2022 Nov 5;13(1):6694. doi: 10.1038/s41467-022-34116-9. Nat Commun. 2022. PMID: 36335097 Free PMC article.
Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.
Moynihan D, Monaco S, Ting TW, Narasimhalu K, Hsieh J, Kam S, Lim JY, Lim WK, Davila S, Bylstra Y, Balakrishnan ID, Heng M, Chia E, Yeo KK, Goh BK, Gupta R, Tan T, Baynam G, Jamuar SS. Moynihan D, et al. Among authors: bylstra y. Sci Rep. 2024 Mar 1;14(1):5056. doi: 10.1038/s41598-024-55424-8. Sci Rep. 2024. PMID: 38424111 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.
Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
Bylstra Y, Kuan JL, Lim WK, Bhalshankar JD, Teo JX, Davila S, Teh BT, Rozen S, Tan EC, Liew WKM, Yeo KK, Tan P; SinGapore Incidental Finding (SGIF) study group; Saw SM, Cheng CY, Cook S, Foo R, Jamuar SS. Bylstra Y, et al. Genet Med. 2019 Jan;21(1):207-212. doi: 10.1038/s41436-018-0008-6. Epub 2018 Jul 2. Genet Med. 2019. PMID: 29961769 Free article.
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