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Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
Chan MMY, Sadeghi-Alavijeh O, Lopes FM, Hilger AC, Stanescu HC, Voinescu CD, Beaman GM, Newman WG, Zaniew M, Weber S, Ho YM, Connolly JO, Wood D, Maj C, Stuckey A, Kousathanas A; Genomics England Research Consortium; Kleta R, Woolf AS, Bockenhauer D, Levine AP, Gale DP. Chan MMY, et al. Among authors: lopes fm. Elife. 2022 Sep 20;11:e74777. doi: 10.7554/eLife.74777. Elife. 2022. PMID: 36124557 Free PMC article.
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Kolvenbach CM, Dworschak GC, Frese S, Japp AS, Schuster P, Wenzlitschke N, Yilmaz Ö, Lopes FM, Pryalukhin A, Schierbaum L, van der Zanden LFM, Kause F, Schneider R, Taranta-Janusz K, Szczepańska M, Pawlaczyk K, Newman WG, Beaman GM, Stuart HM, Cervellione RM, Feitz WFJ, van Rooij IALM, Schreuder MF, Steffens M, Weber S, Merz WM, Feldkötter M, Hoppe B, Thiele H, Altmüller J, Berg C, Kristiansen G, Ludwig M, Reutter H, Woolf AS, Hildebrandt F, Grote P, Zaniew M, Odermatt B, Hilger AC. Kolvenbach CM, et al. Among authors: lopes fm. Am J Hum Genet. 2019 May 2;104(5):994-1006. doi: 10.1016/j.ajhg.2019.03.023. Am J Hum Genet. 2019. PMID: 31051115 Free PMC article.
Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder.
Beaman GM, Lopes FM, Hofmann A, Roesch W, Promm M, Bijlsma EK, Patel C, Akinci A, Burgu B, Knijnenburg J, Ho G, Aufschlaeger C, Dathe S, Voelckel MA, Cohen M, Yue WW, Stuart HM, Mckenzie EA, Elvin M, Roberts NA, Woolf AS, Newman WG. Beaman GM, et al. Among authors: lopes fm. Front Genet. 2022 Jun 23;13:896125. doi: 10.3389/fgene.2022.896125. eCollection 2022. Front Genet. 2022. PMID: 35812751 Free PMC article.
Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder.
Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ, Gardiner NJ, Chopra K, Coletta R, Bajwa Z, Hall RJ, Yue WW, Schaefer F, Weber S, Henriksson R, Stuart HM, Hedman H, Newman WG, Woolf AS. Roberts NA, et al. Among authors: lopes fm. Kidney Int. 2019 May;95(5):1138-1152. doi: 10.1016/j.kint.2018.11.040. Epub 2019 Mar 8. Kidney Int. 2019. PMID: 30885509 Free PMC article.
121 results