Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
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
The genetic landscape of familial congenital hydrocephalus.
Shaheen R et al.
Annals of Neurology, 2017
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