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HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005.
Am J Hum Genet. 2023.
PMID: 37541189
Free PMC article.
Conserved UBE3A subcellular distribution between human and mice is facilitated by non-homologous isoforms.
Zampeta FI, Sonzogni M, Niggl E, Lendemeijer B, Smeenk H, de Vrij FMS, Kushner SA, Distel B, Elgersma Y.
Zampeta FI, et al. Among authors: niggl e.
Hum Mol Genet. 2020 Nov 4;29(18):3032-3043. doi: 10.1093/hmg/ddaa194.
Hum Mol Genet. 2020.
PMID: 32879944
Free PMC article.
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Identifying the temporal electrophysiological and molecular changes that contribute to TSC-associated epileptogenesis.
Koene LM, Niggl E, Wallaard I, Proietti-Onori M, Rotaru DC, Elgersma Y.
Koene LM, et al. Among authors: niggl e.
JCI Insight. 2021 Dec 8;6(23):e150120. doi: 10.1172/jci.insight.150120.
JCI Insight. 2021.
PMID: 34877936
Free PMC article.
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Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development.
Perenthaler E, Yousefi S, Niggl E, Barakat TS.
Perenthaler E, et al. Among authors: niggl e.
Front Cell Neurosci. 2019 Jul 31;13:352. doi: 10.3389/fncel.2019.00352. eCollection 2019.
Front Cell Neurosci. 2019.
PMID: 31417368
Free PMC article.
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