Associated Papers
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual Disability.
Asif M et al.
Genes, 2022
36672789 (PubMed )
Supplement: genes-14-00048-s001.zip › genes-2033021-supplementary › Supplementary_files › V2_Sppplemantary_Table_S2_01.12.2022.xlsx › Sheet1
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability.
Aslanger AD et al.
Journal of Human Genetics, 2022
Whole exome sequencing revealed novel variants in consanguineous Pakistani families with intellectual disability.
Rasool IG et al.
Genes & Genomics, 2021
Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder.
Krämer J et al.
Frontiers in Genetics, 2020
Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability.
Hnoonual A et al.
Frontiers in Genetics, 2019
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
Mortreux J et al.
European Journal of Human Genetics : Ejhg, 2018
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