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Correction: 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. 2018 Dec;20(12):1692. doi: 10.1038/s41436-018-0142-1. Genet Med. 2018. PMID: 30089799 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.
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.
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients.
Pua CJ, Tham N, Chin CWL, Walsh R, Khor CC, Toepfer CN, Repetti GG, Garfinkel AC, Ewoldt JF, Cloonan P, Chen CS, Lim SQ, Cai J, Loo LY, Kong SC, Chiang CWK, Whiffin N, de Marvao A, Lio PM, Hii AA, Yang CX, Le TT, Bylstra Y, Lim WK, Teo JX, Padilha K, Silva GV, Pan B, Govind R, Buchan RJ, Barton PJR, Tan P, Foo R, Yip JWL, Wong RCC, Chan WX, Pereira AC, Tang HC, Jamuar SS, Ware JS, Seidman JG, Seidman CE, Cook SA. Pua CJ, et al. Among authors: bylstra y. Circ Genom Precis Med. 2020 Oct;13(5):424-434. doi: 10.1161/CIRCGEN.119.002823. Epub 2020 Aug 20. Circ Genom Precis Med. 2020. PMID: 32815737 Free PMC article.
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