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Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene CACNA1D Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy.
Rinné S, Stallmeyer B, Pinggera A, Netter MF, Matschke LA, Dittmann S, Kirchhefer U, Neudorf U, Opp J, Striessnig J, Decher N, Schulze-Bahr E. Rinné S, et al. Among authors: dittmann s. Int J Mol Sci. 2022 Nov 17;23(22):14215. doi: 10.3390/ijms232214215. Int J Mol Sci. 2022. PMID: 36430690 Free PMC article.
In vitro modeling of ryanodine receptor 2 dysfunction using human induced pluripotent stem cells.
Fatima A, Xu G, Shao K, Papadopoulos S, Lehmann M, Arnáiz-Cot JJ, Rosa AO, Nguemo F, Matzkies M, Dittmann S, Stone SL, Linke M, Zechner U, Beyer V, Hennies HC, Rosenkranz S, Klauke B, Parwani AS, Haverkamp W, Pfitzer G, Farr M, Cleemann L, Morad M, Milting H, Hescheler J, Saric T. Fatima A, et al. Among authors: dittmann s. Cell Physiol Biochem. 2011;28(4):579-92. doi: 10.1159/000335753. Epub 2011 Dec 14. Cell Physiol Biochem. 2011. PMID: 22178870 Free PMC article.
Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.
Veerman CC, Mengarelli I, Lodder EM, Kosmidis G, Bellin M, Zhang M, Dittmann S, Guan K, Wilde AAM, Schulze-Bahr E, Greber B, Bezzina CR, Verkerk AO. Veerman CC, et al. Among authors: dittmann s. J Am Heart Assoc. 2017 Jul 24;6(7):e005135. doi: 10.1161/JAHA.116.005135. J Am Heart Assoc. 2017. PMID: 28739862 Free PMC article.
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino D… See abstract for full author list ➔ Walsh R, et al. Among authors: dittmann s. Genet Med. 2021 Jan;23(1):47-58. doi: 10.1038/s41436-020-00946-5. Epub 2020 Sep 7. Genet Med. 2021. PMID: 32893267 Free PMC article.
Functional characterization of novel alpha-helical rod domain desmin (DES) pathogenic variants associated with dilated cardiomyopathy, atrioventricular block and a risk for sudden cardiac death.
Fischer B, Dittmann S, Brodehl A, Unger A, Stallmeyer B, Paul M, Seebohm G, Kayser A, Peischard S, Linke WA, Milting H, Schulze-Bahr E. Fischer B, et al. Among authors: dittmann s. Int J Cardiol. 2021 Apr 15;329:167-174. doi: 10.1016/j.ijcard.2020.12.050. Epub 2020 Dec 26. Int J Cardiol. 2021. PMID: 33373648
152 results