Publications

Manole A et al. De novo and bi-allelic pathogenic variants in NARS1 cause neurodevelopmental delay due to toxic gain-of-function and partial loss-of-function effects. Am J Hum Genet. 2020;107(2):311-324. PMID: 32738225.

Śmigiel R et al. Rapid whole-exome sequencing as a diagnostic tool in a neonatal/pediatric intensive care unit. J Clin Med. 2020;9(7):2220. PMID: 32668698.

Wang L et al. Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nat Commun. 2020;11(1):1-12. PMID: 32788587.