Associated Papers
A Missense Pathogenic Variant in a Conserved Region of CNTNAP2 Is Associated with Obesity, Seizures, and Language Impairment in a Pakistani Family.
Naudhani S et al.
Molecular Syndromology, 2023
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
D'Onofrio G et al.
Human Genetics, 2023
Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2022
Novel Missense CNTNAP2 Variant Identified in Two Consanguineous Pakistani Families With Developmental Delay, Epilepsy, Intellectual Disability, and Aggressive Behavior.
Badshah N et al.
Frontiers in Neurology, 2022
The role of contactin-associated protein-like 2 in neurodevelopmental disease and human cerebral cortex evolution.
St George-Hyslop F et al.
Frontiers in Molecular Neuroscience, 2022
Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder.
de Jong JO et al.
Nature Communications, 2021
Altered cingulate structures and the associations with social awareness deficits and CNTNAP2 gene in autism spectrum disorder.
Chien YL et al.
Neuroimage. Clinical, 2021
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
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
Genomic diagnostics within a medically underserved population: efficacy and implications.
Strauss KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Neurogenetics of developmental dyslexia: from genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms.
Mascheretti S et al.
Translational Psychiatry, 2017
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
Smogavec M et al.
Journal of Medical Genetics, 2016
CNTNAP2 gene in high functioning autism: no association according to family and meta-analysis approaches.
Werling AM et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2016
Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.
Rodenas-Cuadrado P et al.
Bmc Medical Genetics, 2016
Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders.
Poot M
Molecular Syndromology, 2015
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
Watson CM et al.
American Journal of Medical Genetics. Part A, 2014
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
Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1.
Zweier C
Molecular Syndromology, 2012
What does CNTNAP2 reveal about autism spectrum disorder?
Peñagarikano O et al.
Trends in Molecular Medicine, 2012
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.
Gregor A et al.
Bmc Medical Genetics, 2011
Early progenitor cell marker expression distinguishes type II from type I focal cortical dysplasias.
Orlova KA et al.
Journal of Neuropathology and Experimental Neurology, 2010
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Zweier C et al.
American Journal of Human Genetics, 2009
Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
Strauss KA et al.
The New England Journal of Medicine, 2006
Recent Advances in the Genetics of Vocal Learning.
Condro MC et al.
Comparative Cognition & Behavior Reviews, 0
Pitt Hopkins-Like Syndrome 1 with Novel CNTNAP2 Mutation in Siblings.
Mittal R et al.
Child Neurology Open, 0