A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.

By Dan E. Arking, David J. Cutler, Camille W. Brune, T. Teslovich, K. West, Morna A Ikeda, A. Rea, Moltu Guy, Shin Lin, Edwin H. Cook Jr. and 1 more. American Journal of Human Genetics, 2008

608 citations recorded by the source corpus.

Subfields: Cognitive Neuroscience, Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/d75405b5ac341452d2aae059df499d17b5115daf

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Cognitive Neuroscience

1. O. Marín
2. Daniel H. Geschwind
3. Dan E. Arking
4. L. Weiss

In Genetics

1. O. Marín
2. Jonathan Sebat
3. Daniel H. Geschwind
4. Stanley F. Nelson
5. Dan E. Arking
6. L. Weiss
7. Piotr Fryzlewicz

In Molecular Biology

1. O. Marín
2. Jonathan Sebat
3. Daniel H. Geschwind
4. Stanley F. Nelson
5. L. Weiss
6. Dan E. Arking
7. Piotr Fryzlewicz

Citations in the corpus

• Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. (2008, background): “The second alternative line of supporting evidence for the involvement of CNTNAP2 in ASD etiology consists of the findings described in two separate studies appearing in this issue of AJHG.”
• Interneuron dysfunction in psychiatric disorders (2012, background): “Since then, several genetic studies have provided additional evidence for the involvement of CNTNAP2 in autis”
• Altered Structural Brain Connectivity in Healthy Carriers of the Autism Risk Gene, CNTNAP2 (2011, unknown): “CASPR2 has a suggested developmental role as a cell adhesion molecule responsible for neuroblast migration and laminar organization (Arking et al., 2008; Bakkaloglu et al., 2008; Vernes et al., 2008).”
• Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities and core autism-related deficits (2011, unknown): “Several reports have since linked this gene to an increased risk of autism or autismrelated endophenotypes (Alarcón et al., 2008; Arking et al., 2008; Bakkaloglu et al., 2008; Vernes et al., 2008).”
• Disentangling the heterogeneity of autism spectrum disorder through genetic findings (2014, unknown): “42,43 Neuroimaging during an implicit language­learning task demonstrated immature neuronal network connectivity patterns as well as differential frontostriatal activity as a function of CNTNAP2 genotype, 44 and neuropatho­ logical studies showed increased expression of the gene in frontostriatal…”