Associated Papers
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Torti E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Deep sequencing of a recurrent oligodendroglioma and the derived xenografts reveals new insights into the evolution of human oligodendroglioma and candidate driver genes.
Exner ND et al.
Oncotarget, 2019
31217899 (PubMed )
Supplement: oncotarget-10-3641-s001.pdf
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F et al.
Genome Medicine, 2019
Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.
Liu Z et al.
Frontiers in Genetics, 2018
30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1
Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability.
Reijnders MRF et al.
Nature Communications, 2017
29051493 (PubMed )
Supplement: 41467_2017_933_MOESM5_ESM.xlsx › All_de_novo_mutations
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