Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
Wilton KM et al.
Molecular Genetics & Genomic Medicine, 2020
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
Giorgio E et al.
American Journal of Medical Genetics. Part A, 2016
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
Mochida GH et al.
American Journal of Human Genetics, 2009
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