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272 results

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Page 1
Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus.
Self JE, Shawkat F, Malpas CT, Thomas NS, Harris CM, Hodgkins PR, Chen X, Trump D, Lotery AJ. Self JE, et al. Among authors: thomas ns. Arch Ophthalmol. 2007 Sep;125(9):1255-63. doi: 10.1001/archopht.125.9.1255. Arch Ophthalmol. 2007. PMID: 17846367
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project.
Moore AR, Yu J, Pei Y, Cheng EWY, Taylor Tavares AL, Walker WT, Thomas NS, Kamath A, Ibitoye R, Josifova D, Wilsdon A, Ross A, Calder AD, Offiah AC, Wilkie AOM; Genomics England Research Consortium; Taylor JC, Pagnamenta AT. Moore AR, et al. Among authors: thomas ns. J Med Genet. 2023 Nov 27;60(12):1235-1244. doi: 10.1136/jmg-2023-109362. J Med Genet. 2023. PMID: 37558402 Free PMC article.
A panel-agnostic strategy 'HiPPo' improves diagnostic efficiency in the UK Genome Medicine Service.
Seaby EG, Thomas NS, Hunt D, Baralle D, Rehm HL, O'Donnell-Luria A, Ennis S. Seaby EG, et al. Among authors: thomas ns. medRxiv [Preprint]. 2023 Feb 1:2023.01.31.23285025. doi: 10.1101/2023.01.31.23285025. medRxiv. 2023. Update in: Healthcare (Basel). 2023 Dec 15;11(24):3179. doi: 10.3390/healthcare11243179 PMID: 36778464 Free PMC article. Updated. Preprint.
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N, Fassad MR, Driessens C, Goggin P, Abdelrahman N, Adwan A, Albakri M, Chopra J, Doherty R, Fashho B, Freke GM, Hasaballah A, Jackson CL, Mohamed MA, Abu Nema R, Patel MP, Pengelly RJ, Qaaqour A, Rubbo B, Thomas NS, Thompson J, Walker WT, Wheway G, Mitchison HM, Lucas JS. Rumman N, et al. Among authors: thomas ns. ERJ Open Res. 2023 Apr 17;9(2):00714-2022. doi: 10.1183/23120541.00714-2022. eCollection 2023 Mar. ERJ Open Res. 2023. PMID: 37077557 Free PMC article.
FILIP1-associated neuromuscular disorder and phenotypic blending due to paternal UPD6.
Watts LM, Bunyan DJ, Giacopuzzi E, Walker S, Gazdagh G, Thomas NS, Straub V, Childs AM, Forsyth J, Vogt J, Khan S, Willis TA, Taylor JC, Pagnamenta AT. Watts LM, et al. Among authors: thomas ns. Brain Commun. 2024 Sep 25;6(5):fcae330. doi: 10.1093/braincomms/fcae330. eCollection 2024. Brain Commun. 2024. PMID: 39386087 Free PMC article. No abstract available.
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).
Lin S, Sanchez-Bretaño A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, Schmitt MA, Norman CS, Hammond S, Harlalka GV, Ennis S, Cross HE, Wenger O, Crosby AH, Baple EL, Self JE. Lin S, et al. Among authors: thomas ns. NPJ Genom Med. 2022 Jan 13;7(1):2. doi: 10.1038/s41525-021-00275-9. NPJ Genom Med. 2022. PMID: 35027574 Free PMC article.
272 results