Associated Papers
Forebrain Eml1 depletion reveals early centrosomal dysfunction causing subcortical heterotopia.
Zaidi D et al.
The Journal of Cell Biology, 2024
Human cerebral organoids reveal progenitor pathology in EML1-linked cortical malformation.
Jabali A et al.
Embo Reports, 2022
A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
Markus F et al.
Journal of Human Genetics, 2021
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Oegema R et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019
Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.
Uzquiano A et al.
Cell Reports, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
Kielar M et al.
Nature Neuroscience, 2014
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