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ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.
Zhang R, Knapp M, Suzuki K, Kajioka D, Schmidt JM, Winkler J, Yilmaz Ö, Pleschka M, Cao J, Kockum CC, Barker G, Holmdahl G, Beaman G, Keene D, Woolf AS, Cervellione RM, Cheng W, Wilkins S, Gearhart JP, Sirchia F, Di Grazia M, Ebert AK, Rösch W, Ellinger J, Jenetzky E, Zwink N, Feitz WF, Marcelis C, Schumacher J, Martinón-Torres F, Hibberd ML, Khor CC, Heilmann-Heimbach S, Barth S, Boyadjiev SA, Brusco A, Ludwig M, Newman W, Nordenskjöld A, Yamada G, Odermatt B, Reutter H. Zhang R, et al. Sci Rep. 2017 Feb 8;7:42170. doi: 10.1038/srep42170. Sci Rep. 2017. PMID: 28176844 Free PMC article.
Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.
Zhang R, Thiele H, Bartmann P, Hilger AC, Berg C, Herberg U, Klingmüller D, Nürnberg P, Ludwig M, Reutter H. Zhang R, et al. Twin Res Hum Genet. 2016 Feb;19(1):60-5. doi: 10.1017/thg.2015.93. Epub 2015 Dec 18. Twin Res Hum Genet. 2016. PMID: 26681452
PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology?
Kolarova J, Bens S, Ammerpohl O, Hilger AC, Zhang R, Reutter H, Siebert R. Kolarova J, et al. Among authors: zhang r. Birth Defects Res A Clin Mol Teratol. 2016 Aug;106(8):724-8. doi: 10.1002/bdra.23521. Epub 2016 May 25. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27223093
Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.
Zhang R, Marsch F, Kause F, Degenhardt F, Schmiedeke E, Märzheuser S, Hoppe B, Bachour H, Boemers TM, Schäfer M, Spychalski N, Neser J, Leonhardt J, Kosch F, Ure B, Gómez B, Lacher M, Deffaa OJ, Palta M, Wittekindt B, Kleine K, Schmedding A, Grasshoff-Derr S, Ven AV, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Reutter H. Zhang R, et al. Birth Defects Res. 2017 Jul 17;109(13):1063-1069. doi: 10.1002/bdr2.1042. Epub 2017 Jun 12. Birth Defects Res. 2017. PMID: 28605140
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia.
Zhang R, Gehlen J, Kawalia A, Melissari MT, Dakal TC, Menon AM, Höfele J, Riedhammer K, Waffenschmidt L, Fabian J, Breuer K, Kalanithy J, Hilger AC, Sharma A, Hölscher A, Boemers TM, Pauly M, Leutner A, Fuchs J, Seitz G, Ludwikowski BM, Gomez B, Hubertus J, Heydweiller A, Kurz R, Leonhardt J, Kosch F, Holland-Cunz S, Münsterer O, Ure B, Schmiedeke E, Neser J, Degenhardt P, Märzheuser S, Kleine K, Schäfer M, Spychalski N, Deffaa OJ, Gosemann JH, Lacher M, Heilmann-Heimbach S, Zwink N, Jenetzky E, Ludwig M, Grote P, Schumacher J, Thiele H, Reutter H. Zhang R, et al. PLoS One. 2020 Jun 5;15(6):e0234246. doi: 10.1371/journal.pone.0234246. eCollection 2020. PLoS One. 2020. PMID: 32502225 Free PMC article.
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