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Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit.
Śmigiel R, Biela M, Szmyd K, Błoch M, Szmida E, Skiba P, Walczak A, Gasperowicz P, Kosińska J, Rydzanicz M, Stawiński P, Biernacka A, Zielińska M, Gołębiowski W, Jalowska A, Ohia G, Głowska B, Walas W, Królak-Olejnik B, Krajewski P, Sykut-Cegielska J, Sąsiadek MM, Płoski R. Śmigiel R, et al. Among authors: sasiadek mm. J Clin Med. 2020 Jul 13;9(7):2220. doi: 10.3390/jcm9072220. J Clin Med. 2020. PMID: 32668698 Free PMC article.
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R, Landsberg G, Schilling M, Rydzanicz M, Pollak A, Walczak A, Stodolak A, Stawinski P, Mierzewska H, Sasiadek MM, Gruss OJ, Ploski R. Smigiel R, et al. Among authors: sasiadek mm. Eur J Hum Genet. 2018 Oct;26(10):1502-1511. doi: 10.1038/s41431-018-0179-2. Epub 2018 Jun 13. Eur J Hum Genet. 2018. PMID: 29899372 Free PMC article.
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Smigiel R, Sherman DL, Rydzanicz M, Walczak A, Mikolajkow D, Krolak-Olejnik B, Kosinska J, Gasperowicz P, Biernacka A, Stawinski P, Marciniak M, Andrzejewski W, Boczar M, Krajewski P, Sasiadek MM, Brophy PJ, Ploski R. Smigiel R, et al. Among authors: sasiadek mm. Hum Mol Genet. 2018 Nov 1;27(21):3669-3674. doi: 10.1093/hmg/ddy277. Hum Mol Genet. 2018. PMID: 30124836 Free PMC article.
172 results