Associated Papers
Monogenic defects in Russian children with autism spectrum disorders.
Suspitsin EN et al.
World Journal of Clinical Pediatrics, 2025
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.
Xu J et al.
Bmc Medical Genomics, 2025
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
van der Laan L et al.
Hgg Advances, 2024
38571311 (PubMed )
Supplement: mmc2.xlsx › Table_S1
A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder.
Aldeeri AA et al.
American Journal of Medical Genetics. Part A, 2023
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.
Veltra D et al.
Expert Review of Molecular Diagnostics, 2023
Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia.
Sirp A et al.
The Journal of Biological Chemistry, 2021
The subcellular localization of bHLH transcription factor TCF4 is mediated by multiple nuclear localization and nuclear export signals.
Greb-Markiewicz B et al.
Scientific Reports, 2019
Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine.
Yang J et al.
Nucleic Acids Research, 2019
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Mary L et al.
European Journal of Human Genetics : Ejhg, 2018
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless.
Tamberg L et al.
Biology Open, 2015
Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
Forrest M et al.
Human Mutation, 2012
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
Sepp M et al.
Human Molecular Genetics, 2012
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S et al.
Human Mutation, 2012
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
de Pontual L et al.
Human Mutation, 2009
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