Pubilkationen und Pressemitteilungen
Analysis of candidate genes for cleft lip ± cleft palate using murine single-cell expression data.
Siewert A, Reiz B, Krug C, Heggemann J, Mangold E, Dickten H, and Ludwig KU.
Front Cell Dev Biol. 2023. doi: 10.3389/fcell.2023.1091666.
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations.
Zieger HK, Weinhold L, Schmidt A, Holtgrewe M, Juranek SA, Siewert A, Scheer AB, Thieme F, Mangold E, Ishorst N, Brand FU, Welzenbach J, Beule D, Paeschke K, Krawitz PM and Ludwig KU.
HGG Adv. 2022;4(1):100166. doi: 10.1016/j.xhgg.2022.100166.
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 and Mangold E;
Mol Genet Genomic Med. 2022 Dec 5:e2109. doi: 10.1002/mgg3.2109.
Systematic assays and resources for the functional annotation of non-coding variants.
Kircher M & Ludwig KU
medizinische genetik 2022; 34(4): 275–286. doi.org/10.1515/medgen-2022-2161. Review
Allele-specific transcription factor binding in a cellular model of orofacial clefting.
Ruff KLM, Hollstein R, Fazaal J, Thieme F, Gehlen J, Mangold E, Knapp M, Welzenbach J, Ludwig KU.
Sci Rep, 2022. 12:1807. https://doi.org/10.1038/s41598-022-05876-7
MicroRNA-149, a candidate for non-syndromic cleft lip with/without cleft palate implicated in neural crest cell migration.
Stüssel LG*, Hollstein R*, Laugsch M, Hochfeld LM, Welzenbach J, Schröder J, Thieme F, Ishorst N, Romero RM, Weinhold L, Hess T, Gehlen J, Mostowska A, Heilmann-Heimbach S, Mangold E, Rada-Iglesias A, Knapp M, Schaaf CP, Ludwig KU.
Journal of Dental Research, 2021 Sep 16;220345211038203. Online ahead of print
Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.
Welzenbach J, Hammond NL, Nikolić M, Thieme F, Ishorst N, Leslie EJ, Weinberg SM, Beaty TH, Marazita ML, Mangold E, Knapp M, Cotney J, Rada-Iglesias A, Dixon MJ and Ludwig KU
HGG Advances, 2021. 2(3). June 08, 2021 DOI:https://doi.org/10.1016/j.xhgg.2021.100038
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 and Ludwig KU:
Hum Mutat. 2021 Aug;42(8):1066-1078. doi: 10.1002/humu.24219. Epub 2021 Jun 3.
Evaluating shared genetic influences on nonsyndromic cleft lip/palate and oropharyngeal neoplasms.
Howe LJ, Hemani G, Lesseur C, Gaborieau V, Ludwig KU, Mangold E, Brennan P, Ness AR, St Pourcain B, Davey Smith G, Lewis SJ:
Genet Epidemiol. 2020. doi: 10.1002/gepi.22343. Online ahead of print
Msx1 deficiency interacts with hypoxia and induces a morphogenetic regulation during lip development
Nakatomi M, Ludwig KU, Knapp M, Kist R, Lisgo S, Mangold E, Peters H
Development. 2020. 147(21):dev189175. doi: 10.1242/dev.189175.
Cleft lip/palate and educational attainment: cause, consequence, or correlation? A Mendelian randomization study.
Dardani C, Howe LJ, Stergiakouli E, Wren Y, Humphries K, Davies A, Ho K, Mangold E, Ludwig KU, Relton CL, Davey Smith G, Lewis SJ, Sandy J, Davies NM and Sharp GC:
Journal of Epidemiology. 2020. doi: 10.1093/ije/dyaa047.
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.
van Rooij IALM*, Ludwig KU*, Welzenbach J, Ishorst N, Thonissen M, Galesloot TE, Ongkosuwito E, Bergé SJ, Kiemeney LALM, Vermeesch JR, Brunner H, Roeleveld N, Devriendt K, Dormaar T, Hens G, Knapp M, Carels C* and Mangold E*: Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene.
Genes. 2019. 10(12). doi: 10.3390/genes10121023.
Die Rolle seltener Varianten bei häufigen Krankheiten
Ludwig KU, Degenhardt F and Nöthen MM: The role of rare variants in common diseases.
medgen. 2019. 31:12. Invited Review [German].
p63 establishes epithelial enhancers at critical craniofacial development genes.
Lin-Shiao E, Lan Y, Welzenbach J, Alexander KA, Zhang Z, Knapp M, Mangold E, Sammons M, Ludwig KU and Berger SL: p63 establishes epithelial enhancers at critical craniofacial development genes.
Sci Adv. 2019. 5(5):eaaw0946.
Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Khandelwal KD, van den Boogaard MJH, Mehrem SL, Gebel J, Fagerberg C, van Beusekom E, van Binsbergen E, Topaloglu O, Steehouwer M, Gilissen C, Ishorst N, van Rooij IALM, Roeleveld N, Christensen K, Schoenaers J, Bergé S, Murray JC, Hens G, Devriendt K, Ludwig KU, Mangold E, Hoischen A, Zhou H, Dötsch V, Carels CEL and van Bokhoven H: Deletions and loss-of-function variants in TP63 associated with orofacial clefting.
Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.
Howe LJ, Richardson TG, Arathimos R, Alvizi L, Passos-Bueno MR, Nohr E, Sorensen T, Ludwig KU, Mangold E, Knapp M, Stergiakouli E, St Pourcain B, Smith GD, Sandy J, Relton CL, Lewis S, Hemani G and Sharp GC: DNA methylation mediates genetic liability to non-syndromic cleft lip/palate.
Epigenomics. 2019. 11(2):133-145.
Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.
Howe LJ, Lee MK, Sharp GC, Davey Smith G, Ludwig KU, Mangold E, St Pourcain B, Shaffer JR, Marazita ML, Feingold E, Zhurov A, Stergiakouli E, Sandy J, Richmond S, Weinberg SM, Hemani G and Lewis SJ: Investigating the shared genetics of non-syndromic cleft lip/palate and facial morphology.
PLoS Genetics. 2018. 14(8):e1007501.
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, and Mangold E: Nonsyndromic cleft palate: Replication of suggestive findings from imputed GWAS data in a multi-ethnic sample.
Birth Defects Research Part A. 2018. 110(10):871-882.
Investigation of dominant and recessive inheritance models in genome-wide association studies data of nonsyndromic cleft lip with or without cleft palate.
Böhmer AC, Gölz L, Kreusch T, Kramer F-J, Pötzsch B, Nöthen MM, Jäger A, Mangold E, Knapp M and Ludwig KU: Investigation of Dominant and Recessive Inheritance Models in Nonsyndromic Cleft Lip with or without Cleft Palate.
Birth Defects Research Part A. 2018. 110(4):336-341.
MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.
Masotti C, Brito LA, Nica AC, Ludwig KU, Nunes K, Savastano CP, Malcher C, Ferreira SG, Kobayashi GS, Bueno DF, Alonso N, Franco D, Rojas-Martinez A, dos Santos SE, Galante PA, Meyer D, Hünemeier T, Mangold E, Dermitzakis ET and Passos-Bueno MR: MRPL53, a New Candidate Gene for Orofacial Clefting, Identified Using an eQTL Approach.
Journal of Dental Research. 2018. 97(1):33.
Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.
Holzinger ER, Li Q, Parker MM, Hetmanski JB, Marazita ML, Mangold E, Ludwig KU, Taub MA, Begum F, Murray JC, Albacha-Hejazi H, Alqosayer K, Al-Souki G, Albasha-Hejazi A, Scott AF, Beaty TH, Bailey-Wilson JE.
Mol Genet and Genom Medic. 2017. doi: 10.1002/mgg.3.320
Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate.
Mostowska A, Gaczkowska A, Żukowski K, Ludwig KU, Hozyasz KK, Wójcicki P, Mangold E, Böhmer AC, Heilmann-Heimbach S, Knapp M, Zadurska M, Biedziak B, Budner M, Lasota A, Daktera-Micker A, Jagodziński PP.
Clin Genet. 2017 doi: 10.1111/cge.13141. [Epub ahead of print]
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.
J Dent Res. 2017 Oct;96(11):1314-1321.
The role of noncoding genetic variation in isolated orofacial clefts.
Thieme F & Ludwig KU.
J Dent Res. 2017 Oct;96(11):1238
Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.
Yu Y, Zuo X, He M, Gao J, Fu Y, Qin C, Meng L, Wang W, Song Y, Cheng Y, Zhou F, Chen G, Zheng X, Wang X, Liang B, Zhu Z, Fu X, Sheng Y, Hao J, Liu Z, Yan H, Mangold E, Ruczinski I, Liu J, Marazita ML, Ludwig KU, Beaty TH, Zhang X, Sun L, Bian Z.
Nat Commun. 2017, 8:14364.
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, Nikolić 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.
Hum Mol Genet. 2017 Jan 13. pii: ddx012. doi: 10.1093/hmg/ddx012. [Epub ahead of print]
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.
J Dent Res. 2017: 96:179-185.
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 IA, Thonissen M, Swinnen S, Phan M, Conte F, Ishorst N, Gilissen C, Roa Fuentes L, van de Vorst M, Henkes A, Steehouwer M, van Beusekom E, Bloemen M, Vankeirsbilck B, Bergé S, Hens G, Schoenaers J, Vander Poorten V, Roosenboom J, Verdonck A, Devriendt K, Roeleveldt N, Jhangiani SN, Vissers LE, 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 CE.
Genet Med. 2016: 18:1158-1162.
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.
Birth Defects Res A Clin Mol Teratol. 2016: 106:767-72.
Meta-analysis reveals genome-wide significance at 15q13 for nonsyndromic clefting of both the lip and the palate, and functional analyses implicate GREM1 as plausible causative gene.
Ludwig KU, Ahmed ST, Böhmer AC, Sangani NB, Varghese S, Klamt J, Schuenke H, Gültepe P, Hofmann A, Rubini M, Aldhorae KA, Steegers-Theunissen RP, Rojas-Martinez A, Reiter R, Borck G, Knapp M, Nakatomi M, Graf D, Mangold E, Peters H. ,
PLoS Genetics 2016: 12(3):e1005914
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 A-K, Gültepe P, Schuenke H, Klamt J, Hofmann A, Gölz L, Raff R, Tessmann P, Nowak S, Reutter H, Hemprich A, Kreusch T, Kramer F-J, Braumann B, Reich R, Schmidt G, Jäger A, Reiter R, Brosch S, Stavusis J, Ishida M, Seselgyte R, Moore GE, Nöthen MN, Borck G, Aldhorae KA, Lace B, Stanier P, Knapp M, Ludwig KU
Am J Hum Gen 2016: 98:755-62
Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.
Garg P*, Ludwig KU*, Böhmer AC, Rubini M, Steegers-Theunissen R, Mossey PA, Mangold E, Sharp AJ
Eur J Hum Genet 2014: 22:822-30
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
Ludwig KU*, Mangold E*, Herms S, Nowak S, Reutter H, Paul A, Becker J, Herberz R, AlChawa T, Nasser E, Böhmer AC, Mattheisen M, Alblas MA, Barth S, Kluck N, Lauster C, Braumann B, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Daratsianos N, Kreusch T, Murray JC, Marazita ML, Ruczinski I, Scott AF, Beaty TH, Kramer F-J, Wienker TF, Steegers-Theunissen RP, Rubini M, Mossey PA, Hoffmann P, Lange C, Cichon S, Propping P, Knapp M*, Nöthen MM*
Nat Genet 2012: 44(9):968-71.
Breakthroughs in the Genetics of orofacial clefting.
Mangold E, Ludwig KU, Nöthen MM
Trends Mol Med 2011: 17(12):725-733. Review.
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Ghassibe-Sabbagh M, Desmyter L, Langenberg T, Claes F, Boute O, Bayet B, Pellerin P, Hermans K, Backx L, Mansilla MA, Imoehl S, Nowak S, Ludwig KU, Baluardo C, Ferrian M, Mossey P, Nöthen M, Dewerchin M, François G, Revencu N, Vanwijck R, Hecht J, Mangold E, Murray J, Rubini M, Vermeesch JR, Poirel HA, Carmeliet P, Vikkula M
Am J Hum Genet 2011: 88(2):150-161.
Genome-wide association study identifies new susceptibility loci for non-syndromic cleft lip with or without cleft palate.
Mangold E*, Ludwig KU*, Birnbaum S*, Baluardo C, Ferrian M, Herms S, Reutter H, Almeida de Assis N, Al Chawa T, Mattheisen M, Steffens M, Barth S, Kluck N, Paul A, Becker J, Lauster C, Schmidt G, Braumann B, Scheer M, Reich RH, Hemprich A, Pötzsch S, Blaumeiser B, Moebus S, Krawczak M, Schreiber S, Meitinger T, Wichmann E, Steegers-Theunissen RP, Kramer F-J, Cichon S, Propping P, Wienker TF, Knapp M, Rubini M, Mossey PA, Hoffmann P, Nöthen MM
Nat Genet 2010: 42(1):24–26.
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
Birnbaum S*, Ludwig KU*, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida de Assis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Bergé SJ, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Steegers-Theunissen RP, Pötzsch B, Moebus S, Horsthemke B, Kramer F-J, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nöthen MM*, Mangold E*
Nat Genet 2009: 41(4):473–477.
