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Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder.
Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi: 10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.
Am J Hum Genet. 2022.
PMID: 36283405
Free PMC article.
A Novel Mutation in Cse1l Disrupts Brain and Eye Development with Specific Effects on Pax6 Expression.
Blizzard LE, Menke C, Patel SD, Waclaw RR, Lachke SA, Stottmann RW.
Blizzard LE, et al.
J Dev Biol. 2021 Jul 7;9(3):27. doi: 10.3390/jdb9030027.
J Dev Biol. 2021.
PMID: 34287339
Free PMC article.
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CNS glycosylphosphatidylinositol deficiency results in delayed white matter development, ataxia and premature death in a novel mouse model.
Lukacs M, Blizzard LE, Stottmann RW.
Lukacs M, et al. Among authors: blizzard le.
Hum Mol Genet. 2020 May 8;29(7):1205-1217. doi: 10.1093/hmg/ddaa046.
Hum Mol Genet. 2020.
PMID: 32179897
Free PMC article.
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