Associated Papers
EMC10 Gene Variants May Cause Dual Molecular Effects on the Neuropsychiatric Disease Pattern.
Bolat H et al.
Developmental Neurobiology, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Expanding EMC foldopathies: Topogenesis deficits alter the neural crest.
Marquez J et al.
Genesis (new York, N.y. : 2000), 2023
Biallelic loss of EMC10 leads to mild to severe intellectual disability.
Kaiyrzhanov R et al.
Annals of Clinical and Translational Neurology, 2022
The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment.
Haddad-Eid E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2022
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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