Associated Papers
Deletion of Emc1 in photoreceptor cells causes retinal degeneration in mice.
Li X et al.
The Febs Journal, 2023
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_MOESM17_ESM.xlsx › Sheet1
The genetic landscape of inherited retinal dystrophies in Arabs.
Jaffal L et al.
Bmc Medical Genomics, 2023
37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1
Structural and mechanistic basis of the EMC-dependent biogenesis of distinct transmembrane clients.
Miller-Vedam LE et al.
Elife, 2020
Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects.
Marquez J et al.
The Journal of Clinical Investigation, 2020
A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy.
Geetha TS et al.
Molecular Genetics & Genomic Medicine, 2018
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Harel T et al.
American Journal of Human Genetics, 2016
Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
Abu-Safieh L et al.
Genome Research, 2013
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