Associated Papers
Identification of Novel Mosaic Variants in Focal Epilepsy-Associated Patients' Brain Lesions.
Garcia CAB et al.
Genes, 2025
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons.
Vogt D et al.
Cerebral Cortex (new York, N.y. : 1991), 2018
Contactin-associated protein-like 2, a protein of the neurexin family involved in several human diseases.
Saint-Martin M et al.
The European Journal of Neuroscience, 2018
Genetic variants in autism-related CNTNAP2 impair axonal growth of cortical neurons.
Canali G et al.
Human Molecular Genetics, 2018
CNTNAP2 Heterozygous Missense Variants: Risk Factors for Autism Spectrum Disorder and/or Other Pathologies?
Canali G et al.
Journal of Experimental Neuroscience, 2018
Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2).
Lu Z et al.
The Journal of Biological Chemistry, 2016
Shining a light on CNTNAP2: complex functions to complex disorders.
Rodenas-Cuadrado P et al.
European Journal of Human Genetics : Ejhg, 2014
Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation.
Falivelli G et al.
Human Molecular Genetics, 2012
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
Bakkaloglu B et al.
American Journal of Human Genetics, 2008
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