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Page 1
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: golz l. 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.
Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.
Ludwig KU, Böhmer AC, Bowes J, Nikolic M, Ishorst N, Wyatt N, Hammond NL, Gölz L, Thieme F, Barth S, Schuenke H, Klamt J, Spielmann M, Aldhorae K, Rojas-Martinez A, Nöthen MM, Rada-Iglesias A, Dixon MJ, Knapp M, Mangold E. Ludwig KU, et al. Among authors: golz l. Hum Mol Genet. 2017 Feb 15;26(4):829-842. doi: 10.1093/hmg/ddx012. Hum Mol Genet. 2017. PMID: 28087736 Free PMC article.
Nonsyndromic cleft lip with or without cleft palate in arab populations: genetic analysis of 15 risk loci in a novel case-control sample recruited in Yemen.
Aldhorae KA, Böhmer AC, Ludwig KU, Esmail AH, Al-Hebshi NN, Lippke B, Gölz L, Nöthen MM, Daratsianos N, Knapp M, Jäger A, Mangold E. Aldhorae KA, et al. Among authors: golz l. Birth Defects Res A Clin Mol Teratol. 2014 Apr;100(4):307-13. doi: 10.1002/bdra.23221. Epub 2014 Mar 13. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24634360 Clinical Trial.
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Mangold E, Böhmer AC, Ishorst N, Hoebel AK, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer FJ, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MM, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU. Mangold E, et al. Among authors: golz l. Am J Hum Genet. 2016 Apr 7;98(4):755-62. doi: 10.1016/j.ajhg.2016.02.013. Epub 2016 Mar 24. Am J Hum Genet. 2016. PMID: 27018475 Free PMC article.
Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.
Klamt J, Hofmann A, Böhmer AC, Hoebel AK, Gölz L, Becker J, Zink AM, Draaken M, Hemprich A, Scheer M, Schmidt G, Martini M, Knapp M, Mangold E, Degenhardt F, Ludwig KU. Klamt J, et al. Among authors: golz l. Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):767-72. doi: 10.1002/bdra.23539. Epub 2016 Jul 7. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27384521
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: golz l. J Dent Res. 2017 Oct;96(11):1314-1321. doi: 10.1177/0022034517722761. Epub 2017 Aug 2. J Dent Res. 2017. PMID: 28767323
Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample.
Ishorst N, Francheschelli P, Böhmer AC, Khan MFJ, Heilmann-Heimbach S, Fricker N, Little J, Steegers-Theunissen RPM, Peterlin B, Nowak S, Martini M, Kruse T, Dunsche A, Kreusch T, Gölz L, Aldhorae K, Halboub E, Reutter H, Mossey P, Nöthen MM, Rubini M, Ludwig KU, Knapp M, Mangold E. Ishorst N, et al. Among authors: golz l. Birth Defects Res. 2018 Jun 1;110(10):871-882. doi: 10.1002/bdr2.1213. Epub 2018 Mar 2. Birth Defects Res. 2018. PMID: 29498243
Extending the allelic spectrum at noncoding risk loci of orofacial clefting.
Thieme F, Henschel L, Hammond NL, Ishorst N, Hausen J, Adamson AD, Biedermann A, Bowes J, Zieger HK, Maj C, Kruse T, Buness A, Hoischen A, Gilissen C, Kreusch T, Jäger A, Gölz L, Braumann B, Aldhorae K, Rojas-Martinez A, Krawitz PM, Mangold E, Dixon MJ, Ludwig KU. Thieme F, et al. Among authors: golz l. Hum Mutat. 2021 Aug;42(8):1066-1078. doi: 10.1002/humu.24219. Epub 2021 Jun 3. Hum Mutat. 2021. PMID: 34004033
73 results