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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: ludwig ku. Biomolecules. 2023 Jul 13;13(7):1117. doi: 10.3390/biom13071117. Biomolecules. 2023. PMID: 37509153 Free PMC article.
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.
Mingardo E, Beaman G, Grote P, Nordenskjöld A, Newman W, Woolf AS, Eckstein M, Hilger AC, Dworschak GC, Rösch W, Ebert AK, Stein R, Brusco A, Di Grazia M, Tamer A, Torres FM, Hernandez JL, Erben P, Maj C, Olmos JM, Riancho JA, Valero C, Hostettler IC, Houlden H, Werring DJ, Schumacher J, Gehlen J, Giel AS, Buerfent BC, Arkani S, Åkesson E, Rotstein E, Ludwig M, Holmdahl G, Giorgio E, Berettini A, Keene D, Cervellione RM, Younsi N, Ortlieb M, Oswald J, Haid B, Promm M, Neissner C, Hirsch K, Stehr M, Schäfer FM, Schmiedeke E, Boemers TM, van Rooij IALM, Feitz WFJ, Marcelis CLM, Lacher M, Nelson J, Ure B, Fortmann C, Gale DP, Chan MMY, Ludwig KU, Nöthen MM, Heilmann S, Zwink N, Jenetzky E, Odermatt B, Knapp M, Reutter H. Mingardo E, et al. Among authors: ludwig ku. Commun Biol. 2022 Nov 9;5(1):1203. doi: 10.1038/s42003-022-04092-3. Commun Biol. 2022. PMID: 36352089 Free PMC article.
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
Draaken M, Knapp M, Pennimpede T, Schmidt JM, Ebert AK, Rösch W, Stein R, Utsch B, Hirsch K, Boemers TM, Mangold E, Heilmann S, Ludwig KU, Jenetzky E, Zwink N, Moebus S, Herrmann BG, Mattheisen M, Nöthen MM, Ludwig M, Reutter H. Draaken M, et al. Among authors: ludwig m, ludwig ku. PLoS Genet. 2015 Mar 12;11(3):e1005024. doi: 10.1371/journal.pgen.1005024. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25763902 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: ludwig ku. 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: ludwig ku. 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.
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.
Gehlen J, Giel AS, Köllges R, Haas SL, Zhang R, Trcka J, Sungur AÖ, Renziehausen F, Bornholdt D, Jung D, Hoyer PD, Nordenskjöld A, Tibboel D, Vlot J, Spaander MCW, Smigiel R, Patkowski D, Roeleveld N, van Rooij IA, de Blaauw I, Hölscher A, Pauly M, Leutner A, Fuchs J, Niethammer J, Melissari MT, Jenetzky E, Zwink N, Thiele H, Hilger AC, Hess T, Trautmann J, Marks M, Baumgarten M, Bläss G, Landén M, Fundin B, Bulik CM, Pennimpede T, Ludwig M, Ludwig KU, Mangold E, Heilmann-Heimbach S, Moebus S, Herrmann BG, Alsabeah K, Burgos CM, Lilja HE, Azodi S, Stenström P, Arnbjörnsson E, Frybova B, Lebensztejn DM, Debek W, Kolodziejczyk E, Kozera K, Kierkus J, Kaliciński P, Stefanowicz M, Socha-Banasiak A, Kolejwa M, Piaseczna-Piotrowska A, Czkwianianc E, Nöthen MM, Grote P, Rygl M, Reinshagen K, Spychalski N, Ludwikowski B, Hubertus J, Heydweiller A, Ure B, Muensterer OJ, Aubert O, Gosemann JH, Lacher M, Degenhardt P, Boemers TM, Mokrowiecka A, Małecka-Panas E, Wöhr M, Knapp M, Seitz G, de Klein A, Oracz G, Brosens E, Reutter H, Schumacher J. Gehlen J, et al. Among authors: ludwig m, ludwig ku. HGG Adv. 2022 Jan 25;3(2):100093. doi: 10.1016/j.xhgg.2022.100093. eCollection 2022 Apr 14. HGG Adv. 2022. PMID: 35199045 Free PMC article.
Identification of de novo variants in nonsyndromic cleft lip with/without cleft palate patients with low polygenic risk scores.
Ishorst N, Henschel L, Thieme F, Drichel D, Sivalingam S, Mehrem SL, Fechtner AC, Fazaal J, Welzenbach J, Heimbach A, Maj C, Borisov O, Hausen J, Raff R, Hoischen A, Dixon M, Rada-Iglesias A, Bartusel M, Rojas-Martinez A, Aldhorae K, Braumann B, Kruse T, Kirschneck C, Spanier G, Reutter H, Nowak S, Gölz L, Knapp M, Buness A, Krawitz P, Nöthen MM, Nothnagel M, Becker T, Ludwig KU, Mangold E. Ishorst N, et al. Among authors: ludwig ku. Mol Genet Genomic Med. 2023 Mar;11(3):e2109. doi: 10.1002/mgg3.2109. Epub 2022 Dec 5. Mol Genet Genomic Med. 2023. PMID: 36468602 Free PMC article.
Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.
Hoebel AK, Drichel D, van de Vorst M, Böhmer AC, Sivalingam S, Ishorst N, Klamt J, Gölz L, Alblas M, Maaser A, Keppler K, Zink AM, Dixon MJ, Dixon J, Hemprich A, Kruse T, Graf I, Dunsche A, Schmidt G, Daratsianos N, Nowak S, Aldhorae KA, Nöthen MM, Knapp M, Thiele H, Gilissen C, Reutter H, Hoischen A, Mangold E, Ludwig KU. Hoebel AK, et al. Among authors: ludwig ku. J Dent Res. 2017 Oct;96(11):1314-1321. doi: 10.1177/0022034517722761. Epub 2017 Aug 2. J Dent Res. 2017. PMID: 28767323
SUMO1 as a candidate gene for non-syndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in Central European patients.
de Assis NA, Nowak S, Ludwig KU, Reutter H, Vollmer J, Heilmann S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Knapp M, Wienker TF, Kramer FJ, Hoffmann P, Nöthen MM, Mangold E. de Assis NA, et al. Among authors: ludwig ku. Int J Pediatr Otorhinolaryngol. 2011 Jan;75(1):49-52. doi: 10.1016/j.ijporl.2010.10.005. Epub 2010 Nov 1. Int J Pediatr Otorhinolaryngol. 2011. PMID: 21044801
113 results