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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Krawitz PM, Schweiger MR, Rödelsperger C, Marcelis C, Kölsch U, Meisel C, Stephani F, Kinoshita T, Murakami Y, Bauer S, Isau M, Fischer A, Dahl A, Kerick M, Hecht J, Köhler S, Jäger M, Grünhagen J, de Condor BJ, Doelken S, Brunner HG, Meinecke P, Passarge E, Thompson MD, Cole DE, Horn D, Roscioli T, Mundlos S, Robinson PN. Krawitz PM, et al. Among authors: rodelsperger c. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29. Nat Genet. 2010. PMID: 20802478
Microindel detection in short-read sequence data.
Krawitz P, Rödelsperger C, Jäger M, Jostins L, Bauer S, Robinson PN. Krawitz P, et al. Among authors: rodelsperger c. Bioinformatics. 2010 Mar 15;26(6):722-9. doi: 10.1093/bioinformatics/btq027. Epub 2010 Feb 9. Bioinformatics. 2010. PMID: 20144947
Neurofibromin (Nf1) is required for skeletal muscle development.
Kossler N, Stricker S, Rödelsperger C, Robinson PN, Kim J, Dietrich C, Osswald M, Kühnisch J, Stevenson DA, Braun T, Mundlos S, Kolanczyk M. Kossler N, et al. Among authors: rodelsperger c. Hum Mol Genet. 2011 Jul 15;20(14):2697-709. doi: 10.1093/hmg/ddr149. Epub 2011 Apr 9. Hum Mol Genet. 2011. PMID: 21478499 Free PMC article.
Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations.
Ibrahim DM, Hansen P, Rödelsperger C, Stiege AC, Doelken SC, Horn D, Jäger M, Janetzki C, Krawitz P, Leschik G, Wagner F, Scheuer T, Schmidt-von Kegler M, Seemann P, Timmermann B, Robinson PN, Mundlos S, Hecht J. Ibrahim DM, et al. Among authors: rodelsperger c. Genome Res. 2013 Dec;23(12):2091-102. doi: 10.1101/gr.157610.113. Epub 2013 Aug 30. Genome Res. 2013. PMID: 23995701 Free PMC article.
Regulation of fibrillin-1 gene expression by Sp1.
Guo G, Rödelsperger C, Digweed M, Robinson PN. Guo G, et al. Among authors: rodelsperger c. Gene. 2013 Sep 25;527(2):448-55. doi: 10.1016/j.gene.2013.07.006. Epub 2013 Jul 13. Gene. 2013. PMID: 23860323
84 results