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Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
Binder JS, Weidemann F, Schoser B, Niemann M, Machann W, Beer M, Plank G, Schmidt A, Bisping E, Poparic I, Lafer I, Stojakovic T, Quasthoff S, Vincent JB, Rienmueller R, Speicher MR, Berghold A, Pieske B, Windpassinger C. Binder JS, et al. Among authors: speicher mr. Circ Cardiovasc Genet. 2012 Oct 1;5(5):490-502. doi: 10.1161/CIRCGENETICS.111.962332. Epub 2012 Aug 25. Circ Cardiovasc Genet. 2012. PMID: 22923418
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Auer-Grumbach M, Fischer C, Papić L, John E, Plecko B, Bittner RE, Bernert G, Pieber TR, Miltenberger G, Schwarz R, Windpassinger C, Grill F, Timmerman V, Speicher MR, Janecke AR. Auer-Grumbach M, et al. Among authors: speicher mr. Neuropediatrics. 2008 Feb;39(1):33-8. doi: 10.1055/s-2008-1077085. Neuropediatrics. 2008. PMID: 18504680 Free PMC article.
Germline mutations in BAP1 predispose to melanocytic tumors.
Wiesner T, Obenauf AC, Murali R, Fried I, Griewank KG, Ulz P, Windpassinger C, Wackernagel W, Loy S, Wolf I, Viale A, Lash AE, Pirun M, Socci ND, Rütten A, Palmedo G, Abramson D, Offit K, Ott A, Becker JC, Cerroni L, Kutzner H, Bastian BC, Speicher MR. Wiesner T, et al. Among authors: speicher mr. Nat Genet. 2011 Aug 28;43(10):1018-21. doi: 10.1038/ng.910. Nat Genet. 2011. PMID: 21874003 Free PMC article.
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.
Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC. Bernkopf M, et al. Among authors: speicher mr. Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13. Hum Mol Genet. 2014. PMID: 24626631 Free PMC article.
A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family.
Khan MA, Rupp VM, Orpinell M, Hussain MS, Altmüller J, Steinmetz MO, Enzinger C, Thiele H, Höhne W, Nürnberg G, Baig SM, Ansar M, Nürnberg P, Vincent JB, Speicher MR, Gönczy P, Windpassinger C. Khan MA, et al. Among authors: speicher mr. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20. Hum Mol Genet. 2014. PMID: 24951542
Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.
Schulz E, Klampfl P, Holzapfel S, Janecke AR, Ulz P, Renner W, Kashofer K, Nojima S, Leitner A, Zebisch A, Wölfler A, Hofer S, Gerger A, Lax S, Beham-Schmid C, Steinke V, Heitzer E, Geigl JB, Windpassinger C, Hoefler G, Speicher MR, Boland CR, Kumanogoh A, Sill H. Schulz E, et al. Among authors: speicher mr. Nat Commun. 2014 Oct 13;5:5191. doi: 10.1038/ncomms6191. Nat Commun. 2014. PMID: 25307848 Free PMC article.
219 results