Associated Papers
Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.
Alzayed NT et al.
Neurology. Genetics, 2024
Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.
Li X et al.
The Febs Journal, 2023
Novel compound heterozygous variants in EMC1 associated with global developmental delay: a lesson from a non-silent synonymous exonic mutation.
Wang G et al.
Frontiers in Molecular Neuroscience, 2023
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Álvarez-Mora MI et al.
Orphanet Journal of Rare Diseases, 2022
Novel truncating and missense variants extending the spectrum of EMC1-related phenotypes, causing autism spectrum disorder, severe global development delay and visual impairment.
Cabet S et al.
European Journal of Medical Genetics, 2020
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