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Journal of Human Genetics|June 22, 2018
Robust imaging and gene delivery to study human lymphoblastoid cell linesLachlan A Jolly, Ying Sun, Renée Carroll, et al.
European Journal of Human Genetics : EJHG|June 15, 2017
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restrictionRenée Carroll, Raman Kumar, Marie Shaw, et al.
European Journal of Medical Genetics|June 13, 2017
Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutationsMark A Corbett, Samantha J Turner, Alison Gardner, et al.
Neurology|October 14, 2016
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyMark A Corbett, Susannah T Bellows, Melody Li, et al.
Human Mutation|April 13, 2021
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disabilityMichael J Field, Raman Kumar, Anna Hackett, et al.
European Journal of Human Genetics : EJHG|February 19, 2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsSandra Whalen, Marie Shaw, Cyril Mignot, et al.
American Journal of Human Genetics|February 7, 2024
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestaltJames L Shepherdson, Katie Hutchison, Dilan Wellalage Don, et al.
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