Associated Papers
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_S2_
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Hiraide T et al.
Clinical Genetics, 2021
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Greenbaum L et al.
Frontiers in Genetics, 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
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro V et al.
Orphanet Journal of Rare Diseases, 2016
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
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