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Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Voigt C, Mégarbané A, Neveling K, Czeschik JC, Albrecht B, Callewaert B, von Deimling F, Hehr A, Falkenberg Smeland M, König R, Kuechler A, Marcelis C, Puiu M, Reardon W, Riise Stensland HM, Schweiger B, Steehouwer M, Teller C, Martin M, Rahmann S, Hehr U, Brunner HG, Lüdecke HJ, Wieczorek D. Voigt C, et al. Among authors: martin m. Orphanet J Rare Dis. 2013 Jul 24;8:110. doi: 10.1186/1750-1172-8-110. Orphanet J Rare Dis. 2013. PMID: 23879989 Free PMC article.
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D. Czeschik JC, et al. Among authors: martin m. Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9. Hum Genet. 2013. PMID: 23568615
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B. Wieczorek D, et al. Among authors: martin m. Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1. Hum Mol Genet. 2013. PMID: 23906836 Free article.
Exact and heuristic algorithms for weighted cluster editing.
Rahmann S, Wittkop T, Baumbach J, Martin M, Truss A, Böcker S. Rahmann S, et al. Among authors: martin m. Comput Syst Bioinformatics Conf. 2007;6:391-401. Comput Syst Bioinformatics Conf. 2007. PMID: 17951842 Free article.
Next-generation RNA sequencing reveals differential expression of MYCN target genes and suggests the mTOR pathway as a promising therapy target in MYCN-amplified neuroblastoma.
Schramm A, Köster J, Marschall T, Martin M, Schwermer M, Fielitz K, Büchel G, Barann M, Esser D, Rosenstiel P, Rahmann S, Eggert A, Schulte JH. Schramm A, et al. Among authors: martin m. Int J Cancer. 2013 Feb 1;132(3):E106-15. doi: 10.1002/ijc.27787. Epub 2012 Sep 26. Int J Cancer. 2013. PMID: 22907398
Discovering motifs that induce sequencing errors.
Allhoff M, Schönhuth A, Martin M, Costa IG, Rahmann S, Marschall T. Allhoff M, et al. Among authors: martin m. BMC Bioinformatics. 2013;14 Suppl 5(Suppl 5):S1. doi: 10.1186/1471-2105-14-S5-S1. Epub 2013 Apr 10. BMC Bioinformatics. 2013. PMID: 23735080 Free PMC article.
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