Associated Papers
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
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Annals of Clinical and Translational Neurology, 2024
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Chopra M et al.
Annals of Clinical and Translational Neurology, 2022
Novel Consensus Splice Site Pathogenic Variation in THOC2 Gene Leads to Recurrent Arthrogryposis Multiplex Congenita Phenotype: A Case Report.
Tamhankar V et al.
Cureus, 2021
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Kumar R et al.
Frontiers in Molecular Neuroscience, 2020
Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion.
Santos-Rebouças CB et al.
Frontiers in Genetics, 2020
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery.
Kumar R et al.
Human Mutation, 2018
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Kumar R et al.
American Journal of Human Genetics, 2015
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