Associated Papers
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
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2021
Novel Compound Heterozygous Mutation in TRAPPC9 Gene: The Relevance of Whole Genome Sequencing.
Alvarez-Mora MI et al.
Genes, 2021
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
Wilton KM et al.
Molecular Genetics & Genomic Medicine, 2020
TRAPPopathies: An emerging set of disorders linked to variations in the genes encoding transport protein particle (TRAPP)-associated proteins.
Sacher M et al.
Traffic (copenhagen, Denmark), 2019
Phenotypes in siblings with homozygous mutations of TRAPPC9 and/or MCPH1 support a bifunctional model of MCPH1.
Duerinckx S et al.
Molecular Genetics & Genomic Medicine, 2018
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