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Generation of two patient-derived iPSC lines from siblings (LIBUCi001-A and LIBUCi002-A) and a genetically modified iPSC line (JMUi001-A-1) to mimic dilated cardiomyopathy with ataxia (DCMA) caused by a homozygous DNAJC19 mutation.
Janz A, Chen R, Regensburger M, Ueda Y, Rost S, Klopocki E, Günther K, Edenhofer F, Duff HJ, Ergün S, Gerull B. Janz A, et al. Among authors: klopocki e. Stem Cell Res. 2020 Jul;46:101856. doi: 10.1016/j.scr.2020.101856. Epub 2020 Jun 2. Stem Cell Res. 2020. PMID: 32521499 Free article.
Generation of induced pluripotent stem cell (iPSC) lines carrying a heterozygous (UKWMPi002-A-1) and null mutant knockout (UKWMPi002-A-2) of Cadherin 13 associated with neurodevelopmental disorders using CRISPR/Cas9.
Vitale MR, Zöller JEM, Jansch C, Janz A, Edenhofer F, Klopocki E, van den Hove D, Vanmierlo T, Rivero O, Nadif Kasri N, Ziegler GC, Lesch KP. Vitale MR, et al. Among authors: klopocki e. Stem Cell Res. 2021 Mar;51:102169. doi: 10.1016/j.scr.2021.102169. Epub 2021 Jan 11. Stem Cell Res. 2021. PMID: 33486346 Free article.
Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5.
Klein T, Henkel L, Klug K, Kwok CK, Klopocki E, Üçeyler N. Klein T, et al. Among authors: klopocki e. Stem Cell Res. 2018 Dec;33:171-174. doi: 10.1016/j.scr.2018.10.017. Epub 2018 Oct 12. Stem Cell Res. 2018. PMID: 30384131 Free article.
Noncoding copy-number variations are associated with congenital limb malformation.
Flöttmann R, Kragesteen BK, Geuer S, Socha M, Allou L, Sowińska-Seidler A, Bosquillon de Jarcy L, Wagner J, Jamsheer A, Oehl-Jaschkowitz B, Wittler L, de Silva D, Kurth I, Maya I, Santos-Simarro F, Hülsemann W, Klopocki E, Mountford R, Fryer A, Borck G, Horn D, Lapunzina P, Wilson M, Mascrez B, Duboule D, Mundlos S, Spielmann M. Flöttmann R, et al. Among authors: klopocki e. Genet Med. 2018 Jun;20(6):599-607. doi: 10.1038/gim.2017.154. Epub 2017 Oct 12. Genet Med. 2018. PMID: 29236091 Free article.
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.
Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. Klopocki E, et al. J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6. J Med Genet. 2012. PMID: 22147889
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