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Page 1
PKD1L1 Is Involved in Congenital Chylothorax.
Whitchurch JB, Schneider S, Hilger AC, Köllges R, Stegmann JD, Waffenschmidt L, Dyer L, Thiele H, Dhabhai B, Dakal TC, Müller A, Norris DP, Reutter HM. Whitchurch JB, et al. Among authors: waffenschmidt l. Cells. 2024 Jan 12;13(2):149. doi: 10.3390/cells13020149. Cells. 2024. PMID: 38247840 Free PMC article.
Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.
Köllges R, Stegmann J, Schneider S, Waffenschmidt L, Fazaal J, Breuer K, Hilger AC, Dworschak GC, Mingardo E, Rösch W, Hofmann A, Neissner C, Ebert AK, Stein R, Younsi N, Hirsch-Koch K, Schmiedeke E, Zwink N, Jenetzky E, Thiele H, Ludwig KU, Reutter H. Köllges R, et al. Among authors: waffenschmidt l. Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117. Biomolecules. 2023. PMID: 37509153 Free PMC article.
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations.
Fabian J, Dworschak GC, Waffenschmidt L, Schierbaum L, Bendixen C, Heilmann-Heimbach S, Sivalingam S, Buness A, Schwarzer N, Boemers TM, Schmiedeke E, Neser J, Leonhardt J, Kosch F, Weih S, Gielen HM, Hosie S, Kabs C, Palta M, Märzheuser S, Bode LM, Lacher M, Schäfer FM, Stehr M, Knorr C, Ure B, Kleine K, Rolle U, Zaniew M, Phillip G, Zwink N, Jenetzky E, Reutter H, Hilger AC. Fabian J, et al. Among authors: waffenschmidt l. Eur J Hum Genet. 2023 Jan;31(1):105-111. doi: 10.1038/s41431-022-01216-5. Epub 2022 Nov 1. Eur J Hum Genet. 2023. PMID: 36319675 Free PMC article.
Genome-wide association study in patients with posterior urethral valves.
van der Zanden LFM, Maj C, Borisov O, van Rooij IALM, Quaedackers JSLT, Steffens M, Schierbaum L, Schneider S, Waffenschmidt L, Kiemeney LALM, de Wall LLL, Heilmann S, Hofmann A, Gehlen J, Schumacher J, Szczepanska M, Taranta-Janusz K, Kroll P, Krzemien G, Szmigielska A, Schreuder MF, Weber S, Zaniew M, Roeleveld N, Reutter H, Feitz WFJ, Hilger AC. van der Zanden LFM, et al. Among authors: waffenschmidt l. Front Pediatr. 2022 Sep 27;10:988374. doi: 10.3389/fped.2022.988374. eCollection 2022. Front Pediatr. 2022. PMID: 36238604 Free PMC article.
Re-sequencing of candidate genes FOXF1, HSPA6, HAAO, and KYNU in 522 individuals with VATER/VACTERL, VACTER/VACTERL-like association, and isolated anorectal malformation.
Thiem CE, Stegmann JD, Hilger AC, Waffenschmidt L, Bendixen C, Köllges R, Schmiedeke E, Schäfer FM, Lacher M, Kosch F, Grasshoff-Derr S, Kabs C, Neser J, Jenetzky E, Fazaal J, Schumacher J, Hoefele J, Ludwig KU, Reutter H. Thiem CE, et al. Among authors: waffenschmidt l. Birth Defects Res. 2022 Jun;114(10):478-486. doi: 10.1002/bdr2.2008. Epub 2022 Mar 31. Birth Defects Res. 2022. PMID: 35362267
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
Schneider S, Köllges R, Stegmann JD, Thieme F, Hilger AC, Waffenschmidt L, Fazaal J, Kalanithy JC, Geipel A, Strizek B, Ludwig KU, Reutter H, Müller A. Schneider S, et al. Among authors: waffenschmidt l. Am J Med Genet A. 2022 May;188(5):1607-1611. doi: 10.1002/ajmg.a.62643. Epub 2022 Jan 7. Am J Med Genet A. 2022. PMID: 34994518 No abstract available.
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. Among authors: waffenschmidt l. PLoS One. 2020 Jun 5;15(6):e0234246. doi: 10.1371/journal.pone.0234246. eCollection 2020. PLoS One. 2020. PMID: 32502225 Free PMC article.