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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. 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.
Wie ist die Weiterbildungssituation der NaturwissenschaftlerInnen in der Humangenetik in Deutschland, und wie erreichen wir eine staatliche Anerkennung der Weiterbildung zur/zum FachhumangenetikerIn?
Hollstein R, Ishorst N, Lischka A, Sindermann L, Behrens YL. Hollstein R, et al. Among authors: ishorst n. Med Genet. 2023 Dec 5;35(4):339-350. doi: 10.1515/medgen-2023-2045. eCollection 2023 Dec. Med Genet. 2023. PMID: 38841540 German. No abstract available.
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Ockeloen CW, Khandelwal KD, Dreesen K, Ludwig KU, Sullivan R, van Rooij IALM, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, RoaFuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Poorten VV, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LELM, Lupski JR, de Ligt J, Von den Hoff JW, Pfundt R, Brunner HG, Zhou H, Dixon J, Mangold E, van Bokhoven H, Dixon MJ, Kleefstra T, Hoischen A, Carels CEL. Ockeloen CW, et al. Among authors: ishorst n. Genet Med. 2016 Nov;18(11):1158-1162. doi: 10.1038/gim.2016.10. Epub 2016 Mar 10. Genet Med. 2016. PMID: 26963285 Free PMC article.
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: ishorst n. 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.
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.
Khandelwal KD, Ishorst N, Zhou H, Ludwig KU, Venselaar H, Gilissen C, Thonissen M, van Rooij IA, Dreesen K, Steehouwer M, van de Vorst M, Bloemen M, van Beusekom E, Roosenboom J, Borstlap W, Admiraal R, Dormaar T, Schoenaers J, Vander Poorten V, Hens G, Verdonck A, Bergé S, Roeleveldt N, Vriend G, Devriendt K, Brunner HG, Mangold E, Hoischen A, van Bokhoven H, Carels CE. Khandelwal KD, et al. Among authors: ishorst n. J Dent Res. 2017 Feb;96(2):179-185. doi: 10.1177/0022034516678829. Epub 2016 Nov 13. J Dent Res. 2017. PMID: 27834299
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: ishorst n. Hum Mol Genet. 2017 Feb 15;26(4):829-842. doi: 10.1093/hmg/ddx012. Hum Mol Genet. 2017. PMID: 28087736 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: ishorst n. 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. 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
20 results