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AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Guan Q, Balciuniene J, Cao K, Fan Z, Biswas S, Wilkens A, Gallo DJ, Bedoukian E, Tarpinian J, Jayaraman P, Sarmady M, Dulik M, Santani A, Spinner N, Abou Tayoun AN, Krantz ID, Conlin LK, Luo M. Guan Q, et al. Among authors: luo m. Genet Med. 2018 Dec;20(12):1600-1608. doi: 10.1038/gim.2018.48. Epub 2018 Mar 29. Genet Med. 2018. PMID: 29595809 Free article.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Sheppard S, et al. Among authors: luo m. Genet Med. 2018 Dec;20(12):1663-1676. doi: 10.1038/s41436-018-0004-x. Epub 2018 Jun 15. Genet Med. 2018. PMID: 29907799 Free PMC article.
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK. Mulchandani S, et al. Among authors: luo m. Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6. Genet Med. 2016. PMID: 26248010 Free article.
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Luo M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. Gibson KM, et al. Among authors: luo m. Genet Med. 2018 Mar;20(3):329-336. doi: 10.1038/gim.2017.153. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29389922 Free article.
Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Gibson KM, Nesbitt A, Cao K, Yu Z, Denenberg E, DeChene E, Guan Q, Bhoj E, Zhou X, Zhang B, Wu C, Dubbs H, Wilkens A, Medne L, Bedoukian E, White PS, Pennington J, Luo M, Conlin L, Monos D, Sarmady M, Marsh E, Zackai E, Spinner N, Krantz I, Deardorff M, Santani A. Gibson KM, et al. Among authors: luo m. Genet Med. 2018 Nov;20(11):1486. doi: 10.1038/gim.2018.1. Genet Med. 2018. PMID: 29419820 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.
7,879 results