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198 results

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A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Stark Z, Tan TY, Chong B, Brett GR, Yap P, Walsh M, Yeung A, Peters H, Mordaunt D, Cowie S, Amor DJ, Savarirayan R, McGillivray G, Downie L, Ekert PG, Theda C, James PA, Yaplito-Lee J, Ryan MM, Leventer RJ, Creed E, Macciocca I, Bell KM, Oshlack A, Sadedin S, Georgeson P, Anderson C, Thorne N, Melbourne Genomics Health Alliance, Gaff C, White SM. Stark Z, et al. Among authors: downie l. Genet Med. 2016 Nov;18(11):1090-1096. doi: 10.1038/gim.2016.1. Epub 2016 Mar 3. Genet Med. 2016. PMID: 26938784 Free article.
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tan TY, Dillon OJ, Stark Z, Schofield D, Alam K, Shrestha R, Chong B, Phelan D, Brett GR, Creed E, Jarmolowicz A, Yap P, Walsh M, Downie L, Amor DJ, Savarirayan R, McGillivray G, Yeung A, Peters H, Robertson SJ, Robinson AJ, Macciocca I, Sadedin S, Bell K, Oshlack A, Georgeson P, Thorne N, Gaff C, White SM. Tan TY, et al. Among authors: downie l. JAMA Pediatr. 2017 Sep 1;171(9):855-862. doi: 10.1001/jamapediatrics.2017.1755. JAMA Pediatr. 2017. PMID: 28759686 Free PMC article.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
Martyn M, Kanga-Parabia A, Lynch E, James PA, Macciocca I, Trainer AH, Halliday J, Keogh L, Wale J, Winship I, Bogwitz M, Valente G, Walsh M, Downie L, Amor D, Wallis M, Cunningham F, Burgess M, Brown NJ, Jarmolowicz A, Lunke S, Goranitis I; Melbourne Genomics Health Alliance; Gaff CL. Martyn M, et al. Among authors: downie l. J Genet Couns. 2019 Apr;28(2):388-397. doi: 10.1002/jgc4.1102. Epub 2019 Feb 18. J Genet Couns. 2019. PMID: 30776170
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.
Childhood Hearing Australasian Medical Professionals network: Consensus guidelines on investigation and clinical management of childhood hearing loss.
Sung V, Downie L, Paxton GA, Liddle K, Birman CS, Chan WW, Cottier C, Harris A, Hunter M, Peadon E, Peacock K, Roddick L, Rose E, Saunders K, Amor DJ. Sung V, et al. Among authors: downie l. J Paediatr Child Health. 2019 Sep;55(9):1013-1022. doi: 10.1111/jpc.14508. J Paediatr Child Health. 2019. PMID: 31524978 No abstract available.
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Downie L, Halliday J, Burt R, Lunke S, Lynch E, Martyn M, Poulakis Z, Gaff C, Sung V, Wake M, Hunter MF, Saunders K, Rose E, Lewis S, Jarmolowicz A, Phelan D, Rehm HL; Melbourne Genomics Health Alliance; Amor DJ. Downie L, et al. Eur J Hum Genet. 2020 May;28(5):587-596. doi: 10.1038/s41431-019-0553-8. Epub 2019 Dec 12. Eur J Hum Genet. 2020. PMID: 31827275 Free PMC article.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Yeung A, Tan NB, Tan TY, Stark Z, Brown N, Hunter MF, Delatycki M, Stutterd C, Savarirayan R, Mcgillivray G, Stapleton R, Kumble S, Downie L, Regan M, Lunke S, Chong B, Phelan D, Brett GR, Jarmolowicz A, Prawer Y, Valente G, Smagarinsky Y, Martyn M, McEwan C, Goranitis I, Gaff C, White SM. Yeung A, et al. Among authors: downie l. Genet Med. 2020 Dec;22(12):1986-1993. doi: 10.1038/s41436-020-0929-8. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773771 Free article.
198 results