Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
Unveiling New Clinical and Genetic Insights in Ultra-Rare Intellectual Disability Phenotypes: A Study of a Turkish Cohort.
Turkyilmaz A et al.
Clinical Genetics, 2025
Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in-depth exploration.
Dai X et al.
Prenatal Diagnosis, 2024
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
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Chung HL et al.
Human Molecular Genetics, 2022
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
Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker SW et al.
The Journal of Molecular Diagnostics : Jmd, 2019
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
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