Publications

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Author Title [ Year(Asc)]
Filters: Keyword is Transcription, Genetic  [Clear All Filters]
2021
Oláhová, M. et al. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun 12, 1135 (2021).
2018
Ichida, J. K. et al. Comparative genomic analysis of embryonic, lineage-converted and stem cell-derived motor neurons. Development 145, (2018).
2017
Harms, F. Leonie et al. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet 100, 117-127 (2017).
2016
Zuccherato, L. W., Alleva, B., Whiters, M. A., Carvalho, C. M. B. & Lupski, J. R. Chimeric transcripts resulting from complex duplications in chromosome Xq28. Hum Genet 135, 253-6 (2016).
2012
van der Maarel, S. M., Miller, D. G., Tawil, R., Filippova, G. N. & Tapscott, S. J. Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation. Curr Opin Neurol 25, 614-20 (2012).