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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
PLoS One. 2017 Jul 27;12(7):e0181874. doi: 10.1371/journal.pone.0181874. eCollection 2017.
PLoS One. 2017.
PMID: 28750028
Free PMC article.
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D, Omoyinmi E, Hong Y, Mulhern C, Papadopoulou C, Casimir M, Hacohen Y, Nyanhete R, Ahlfors H, Cullup T, Lim M, Gilmour K, Mankad K, Wassmer E, Berg S, Hemingway C, Brogan P, Eleftheriou D.
McCreary D, et al. Among authors: nyanhete r.
JAMA Netw Open. 2019 Oct 2;2(10):e1914274. doi: 10.1001/jamanetworkopen.2019.14274.
JAMA Netw Open. 2019.
PMID: 31664448
Free PMC article.
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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel A, Hayward JD, Tailor V, Nyanhete R, Ahlfors H, Gabriel C, Jannini TB, Abbou-Rayyah Y, Henderson R, Nischal KK, Islam L, Bitner-Glindzicz M, Hurst J, Valdivia LE, Zanolli M, Moosajee M, Brookes J, Papadopoulos M, Khaw PT, Cullup T, Jenkins L, Dahlmann-Noor A, Sowden JC.
Patel A, et al. Among authors: nyanhete r.
Ophthalmology. 2019 Jun;126(6):888-907. doi: 10.1016/j.ophtha.2018.12.050. Epub 2019 Jan 14.
Ophthalmology. 2019.
PMID: 30653986
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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A, Callaway A, Durkie M, Cubuk C, Alikian M, Burghel GJ, Robinson R, Izatt L, Talukdar S, Side L, Cranston T, Palmer-Smith S, Baralle D, Berry IR, Drummond J, Wallace AJ, Norbury G, Eccles DM, Ellard S, Lalloo F, Evans DG, Woodward E, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK.
Garrett A, et al.
J Med Genet. 2020 Dec;57(12):829-834. doi: 10.1136/jmedgenet-2019-106759. Epub 2020 Mar 13.
J Med Genet. 2020.
PMID: 32170000
Free PMC article.
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Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations.
Garrett A, Durkie M, Callaway A, Burghel GJ, Robinson R, Drummond J, Torr B, Cubuk C, Berry IR, Wallace AJ, Ellard S, Eccles DM, Tischkowitz M, Hanson H, Turnbull C; CanVIG-UK.
Garrett A, et al.
J Med Genet. 2021 May;58(5):297-304. doi: 10.1136/jmedgenet-2020-107248. Epub 2020 Nov 18.
J Med Genet. 2021.
PMID: 33208383
Free PMC article.
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Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.
Loong L, Cubuk C, Choi S, Allen S, Torr B, Garrett A, Loveday C, Durkie M, Callaway A, Burghel GJ, Drummond J, Robinson R, Berry IR, Wallace A, Eccles DM, Tischkowitz M, Ellard S, Ware JS, Hanson H, Turnbull C; CanVIG-UK.
Loong L, et al.
Genet Med. 2022 Mar;24(3):552-563. doi: 10.1016/j.gim.2021.11.011. Epub 2021 Nov 18.
Genet Med. 2022.
PMID: 34906453
Free PMC article.
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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Loong L, Huntley C, McRonald F, Santaniello F, Pethick J, Torr B, Allen S, Tulloch O, Goel S, Shand B, Rahman T, Luchtenborg M, Garrett A, Barber R, Bedenham T, Bourn D, Bradshaw K, Brooks C, Bruty J, Burghel GJ, Butler S, Buxton C, Callaway A, Callaway J, Drummond J, Durkie M, Field J, Jenkins L, McVeigh TP, Mountford R, Nyanhete R, Petrides E, Robinson R, Scott T, Stinton V, Tellez J, Wallace AJ, Yarram-Smith L, Sahan K, Hallowell N, Eccles DM, Pharoah P, Tischkowitz M, Antoniou AC, Evans DG, Lalloo F, Norbury G, Morris E, Burn J, Hardy S, Turnbull C.
Loong L, et al. Among authors: nyanhete r.
J Med Genet. 2023 Jul;60(7):669-678. doi: 10.1136/jmg-2022-108800. Epub 2022 Dec 26.
J Med Genet. 2023.
PMID: 36572524
Free PMC article.
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