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Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R; Genomics England Research Consortium; Atan D, Sayer JA. Olinger E, et al. Among authors: wilson ij. Genet Med Open. 2024 Feb 29;2:101834. doi: 10.1016/j.gimo.2024.101834. eCollection 2024. Genet Med Open. 2024. PMID: 39669628 Free PMC article.
Kidney traits on repeat-the role of MUC1 VNTR.
Olinger E, Wilson I, Devuyst O, Sayer JA. Olinger E, et al. Kidney Int. 2022 May;101(5):863-866. doi: 10.1016/j.kint.2021.12.026. Epub 2022 Jan 11. Kidney Int. 2022. PMID: 35031326 Free article. No abstract available.
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT, Thomas NS, Thompson J, Rock SA, Neatu R, Powell L, Molinari E; Genomics England Research Consortium; Wilson IJ, Cordell HJ, Olinger E, Miles CG, Sayer JA, Wheway G, Lucas JS. Devlin LA, et al. Among authors: wilson ij. Clin Genet. 2023 Mar;103(3):330-334. doi: 10.1111/cge.14251. Epub 2022 Nov 3. Clin Genet. 2023. PMID: 36273371 Free PMC article.
A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families.
Olinger E, Alawi IA, Al Riyami MS, Salmi IA, Molinari E, Faqeih EA, Al-Hamed MH, Barroso-Gil M, Powell L, Al-Hussaini AA, Rahim KA, Almontashiri NAM, Miles C, Shril S, Hildebrandt F, Consortium GER, Wilson IJ, Sayer JA. Olinger E, et al. Among authors: wilson ij. Hum Mutat. 2021 Oct;42(10):1221-1228. doi: 10.1002/humu.24251. Epub 2021 Jul 26. Hum Mutat. 2021. PMID: 34212438 Free PMC article.
Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.
Powell L, Olinger E, Wedderburn S, Ramakumaran VS, Kini U, Clayton-Smith J, Ramsden SC, Rice SJ, Barroso-Gil M, Wilson I, Cowley L, Johnson S, Harris E, Montgomery T, Bertoli M; Genomics England Research Consortium; Boltshauser E, Sayer JA. Powell L, et al. Brain Commun. 2021 Jul 16;3(3):fcab163. doi: 10.1093/braincomms/fcab163. eCollection 2021. Brain Commun. 2021. PMID: 34423300 Free PMC article.
Progressive liver, kidney, and heart degeneration in children and adults affected by TULP3 mutations.
Devane J, Ott E, Olinger EG, Epting D, Decker E, Friedrich A, Bachmann N, Renschler G, Eisenberger T, Briem-Richter A, Grabhorn EF, Powell L, Wilson IJ, Rice SJ, Miles CG, Wood K; Genomics England Research Consortium; Trivedi P, Hirschfield G, Pietrobattista A, Wohler E, Mezina A, Sobreira N, Agolini E, Maggiore G, Dahmer-Heath M, Yilmaz A, Boerries M, Metzger P, Schell C, Grünewald I, Konrad M, König J, Schlevogt B, Sayer JA, Bergmann C. Devane J, et al. Among authors: wilson ij. Am J Hum Genet. 2022 May 5;109(5):928-943. doi: 10.1016/j.ajhg.2022.03.015. Epub 2022 Apr 8. Am J Hum Genet. 2022. PMID: 35397207 Free PMC article.
76 results