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: mmc3.pdf
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G et al.
Human Genetics, 2023
37183190 (PubMed )
Supplement: 439_2023_2552_MOESM1_ESM.xlsx › Supplementary_Table_2
Shining a light on CNTNAP2: complex functions to complex disorders.
Rodenas-Cuadrado P et al.
European Journal of Human Genetics : Ejhg, 2014
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S11.xls › Supp_Table_11
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
Gregor A et al.
Bmc Medical Genetics, 2011
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