Associated Papers
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
A novel variant in NSUN2 causes intellectual disability in a Chinese family.
Yang Q et al.
Bmc Medical Genomics, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Further delineation of autosomal recessive intellectual disability syndrome caused by homozygous variant of the NSUN2 gene in a chinese pedigree.
Sun S et al.
Molecular Genetics & Genomic Medicine, 2020
The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.
Mu W et al.
Journal of Neurogenetics, 2019
A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child.
Komara M et al.
Journal of Molecular Neuroscience : Mn, 2015
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.
Fahiminiya S et al.
Clinical Genetics, 2014
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