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Page 1
'Location, Location, Location': a spatial approach for rare variant analysis and an application to a study on non-syndromic cleft lip with or without cleft palate.
Fier H, Won S, Prokopenko D, AlChawa T, Ludwig KU, Fimmers R, Silverman EK, Pagano M, Mangold E, Lange C. Fier H, et al. Among authors: alchawa t. Bioinformatics. 2012 Dec 1;28(23):3027-33. doi: 10.1093/bioinformatics/bts568. Epub 2012 Oct 8. Bioinformatics. 2012. PMID: 23044548 Free PMC article.
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 FJ, Wienker TF, Steegers-Theunissen RP, Rubini M, Mossey PA, Hoffmann P, Lange C, Cichon S, Propping P, Knapp M, Nöthen MM. Ludwig KU, et al. Among authors: alchawa t. Nat Genet. 2012 Sep;44(9):968-71. doi: 10.1038/ng.2360. Epub 2012 Aug 5. Nat Genet. 2012. PMID: 22863734 Free PMC article.
Nonsyndromic cleft lip with or without cleft palate: Increased burden of rare variants within Gremlin-1, a component of the bone morphogenetic protein 4 pathway.
Al Chawa T, Ludwig KU, Fier H, Pötzsch B, Reich RH, Schmidt G, Braumann B, Daratsianos N, Böhmer AC, Schuencke H, Alblas M, Fricker N, Hoffmann P, Knapp M, Lange C, Nöthen MM, Mangold E. Al Chawa T, et al. Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):493-8. doi: 10.1002/bdra.23244. Epub 2014 Apr 7. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 24706492
Is it rare or common?
Adhikari K, AlChawa T, Ludwig K, Mangold E, Laird N, Lange C. Adhikari K, et al. Among authors: alchawa t. Genet Epidemiol. 2012 Jul;36(5):419-29. doi: 10.1002/gepi.21637. Epub 2012 Apr 30. Genet Epidemiol. 2012. PMID: 22549767 Free PMC article.