Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
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_
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
33172502 (PubMed )
Supplement: 40478_2020_1066_MOESM2_ESM.xlsx › S4_Targeted_sequencing_mutation
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
VaRank: a simple and powerful tool for ranking genetic variants.
Geoffroy V et al.
Peerj, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
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
Select a paper to view details