Maricela Alarcón, Brett S Abrahams, Jennifer L Stone, Jacqueline A Duvall, Julia V Perederiy, Jamee M Bomar, Jonathan Sebat, Michael Wigler, Christa L Martin, David H Ledbetter, Stanley F Nelson, Rita M Cantor, Daniel H Geschwind. Am J Hum Genet 2008
Times Cited: 554
Times Cited: 554
Times Cited
Times Co-cited
Similarity
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits.
Olga Peñagarikano, Brett S Abrahams, Edward I Herman, Kellen D Winden, Amos Gdalyahu, Hongmei Dong, Lisa I Sonnenblick, Robin Gruver, Joel Almajano, Anatol Bragin,[...]. Cell 2011
Olga Peñagarikano, Brett S Abrahams, Edward I Herman, Kellen D Winden, Amos Gdalyahu, Hongmei Dong, Lisa I Sonnenblick, Robin Gruver, Joel Almajano, Anatol Bragin,[...]. Cell 2011
50
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.
Dan E Arking, David J Cutler, Camille W Brune, Tanya M Teslovich, Kristen West, Morna Ikeda, Alexis Rea, Moltu Guy, Shin Lin, Edwin H Cook,[...]. Am J Hum Genet 2008
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Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.
Kevin A Strauss, Erik G Puffenberger, Matthew J Huentelman, Steven Gottlieb, Seth E Dobrin, Jennifer M Parod, Dietrich A Stephan, D Holmes Morton. N Engl J Med 2006
Kevin A Strauss, Erik G Puffenberger, Matthew J Huentelman, Steven Gottlieb, Seth E Dobrin, Jennifer M Parod, Dietrich A Stephan, D Holmes Morton. N Engl J Med 2006
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Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
Betul Bakkaloglu, Brian J O'Roak, Angeliki Louvi, Abha R Gupta, Jesse F Abelson, Thomas M Morgan, Katarzyna Chawarska, Ami Klin, A Gulhan Ercan-Sencicek, Althea A Stillman,[...]. Am J Hum Genet 2008
Betul Bakkaloglu, Brian J O'Roak, Angeliki Louvi, Abha R Gupta, Jesse F Abelson, Thomas M Morgan, Katarzyna Chawarska, Ami Klin, A Gulhan Ercan-Sencicek, Althea A Stillman,[...]. Am J Hum Genet 2008
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A functional genetic link between distinct developmental language disorders.
Sonja C Vernes, Dianne F Newbury, Brett S Abrahams, Laura Winchester, Jérôme Nicod, Matthias Groszer, Maricela Alarcón, Peter L Oliver, Kay E Davies, Daniel H Geschwind,[...]. N Engl J Med 2008
Sonja C Vernes, Dianne F Newbury, Brett S Abrahams, Laura Winchester, Jérôme Nicod, Matthias Groszer, Maricela Alarcón, Peter L Oliver, Kay E Davies, Daniel H Geschwind,[...]. N Engl J Med 2008
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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
Stéphane Jamain, Hélène Quach, Catalina Betancur, Maria Råstam, Catherine Colineaux, I Carina Gillberg, Henrik Soderstrom, Bruno Giros, Marion Leboyer, Christopher Gillberg,[...]. Nat Genet 2003
Stéphane Jamain, Hélène Quach, Catalina Betancur, Maria Råstam, Catherine Colineaux, I Carina Gillberg, Henrik Soderstrom, Bruno Giros, Marion Leboyer, Christopher Gillberg,[...]. Nat Genet 2003
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Shining a light on CNTNAP2: complex functions to complex disorders.
Pedro Rodenas-Cuadrado, Joses Ho, Sonja C Vernes. Eur J Hum Genet 2014
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Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons.
Olga Varea, Maria Dolores Martin-de-Saavedra, Katherine J Kopeikina, Britta Schürmann, Hunter J Fleming, Jessica M Fawcett-Patel, Anthony Bach, Seil Jang, Elior Peles, Eunjoon Kim,[...]. Proc Natl Acad Sci U S A 2015
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Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1.
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Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels.
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Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development.
Garret R Anderson, Timothy Galfin, Wei Xu, Jason Aoto, Robert C Malenka, Thomas C Südhof. Proc Natl Acad Sci U S A 2012
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CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
J I Friedman, T Vrijenhoek, S Markx, I M Janssen, W A van der Vliet, B H W Faas, N V Knoers, W Cahn, R S Kahn, L Edelmann,[...]. Mol Psychiatry 2008
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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Christelle M Durand, Catalina Betancur, Tobias M Boeckers, Juergen Bockmann, Pauline Chaste, Fabien Fauchereau, Gudrun Nygren, Maria Rastam, I Carina Gillberg, Henrik Anckarsäter,[...]. Nat Genet 2007
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14
Altered functional connectivity in frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2.
Ashley A Scott-Van Zeeland, Brett S Abrahams, Ana I Alvarez-Retuerto, Lisa I Sonnenblick, Jeffrey D Rudie, Dara Ghahremani, Jeanette A Mumford, Russell A Poldrack, Mirella Dapretto, Daniel H Geschwind,[...]. Sci Transl Med 2010
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13
CNTNAP2 variants affect early language development in the general population.
A J O Whitehouse, D V M Bishop, Q W Ang, C E Pennell, S E Fisher. Genes Brain Behav 2011
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Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.
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The contribution of de novo coding mutations to autism spectrum disorder.
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12
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila.
Christiane Zweier, Eiko K de Jong, Markus Zweier, Alfredo Orrico, Lilian B Ousager, Amanda L Collins, Emilia K Bijlsma, Merel A W Oortveld, Arif B Ekici, André Reis,[...]. Am J Hum Genet 2009
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Normal variation in fronto-occipital circuitry and cerebellar structure with an autism-associated polymorphism of CNTNAP2.
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Strong association of de novo copy number mutations with autism.
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CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population.
Weidong Ji, Tao Li, Yaosheng Pan, Hua Tao, Kang Ju, Zujia Wen, Yingchun Fu, Zhiguo An, Qian Zhao, Ti Wang,[...]. Psychiatry Res 2013
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Mouse Cntnap2 and Human CNTNAP2 ASD Alleles Cell Autonomously Regulate PV+ Cortical Interneurons.
Daniel Vogt, Kathleen K A Cho, Samantha M Shelton, Anirban Paul, Z Josh Huang, Vikaas S Sohal, John L R Rubenstein. Cereb Cortex 2018
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Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
D F Newbury, S Paracchini, T S Scerri, L Winchester, L Addis, Alex J Richardson, J Walter, J F Stein, J B Talcott, A P Monaco. Behav Genet 2011
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11
Immune or Genetic-Mediated Disruption of CASPR2 Causes Pain Hypersensitivity Due to Enhanced Primary Afferent Excitability.
John M Dawes, Greg A Weir, Steven J Middleton, Ryan Patel, Kim I Chisholm, Philippa Pettingill, Liam J Peck, Joseph Sheridan, Akila Shakir, Leslie Jacobson,[...]. Neuron 2018
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Structural variation of chromosomes in autism spectrum disorder.
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Advances in autism genetics: on the threshold of a new neurobiology.
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Functional impact of global rare copy number variation in autism spectrum disorders.
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Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R Magalhaes, Catarina Correia, Brett S Abrahams,[...]. Nature 2010
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Disruption of neurexin 1 associated with autism spectrum disorder.
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What does CNTNAP2 reveal about autism spectrum disorder?
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Genome-wide analyses of human perisylvian cerebral cortical patterning.
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Synaptic, transcriptional and chromatin genes disrupted in autism.
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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism.
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A forkhead-domain gene is mutated in a severe speech and language disorder.
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
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9
Contribution of SHANK3 mutations to autism spectrum disorder.
Rainald Moessner, Christian R Marshall, James S Sutcliffe, Jennifer Skaug, Dalila Pinto, John Vincent, Lonnie Zwaigenbaum, Bridget Fernandez, Wendy Roberts, Peter Szatmari,[...]. Am J Hum Genet 2007
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Most genetic risk for autism resides with common variation.
Trent Gaugler, Lambertus Klei, Stephan J Sanders, Corneliu A Bodea, Arthur P Goldberg, Ann B Lee, Milind Mahajan, Dina Manaa, Yudi Pawitan, Jennifer Reichert,[...]. Nat Genet 2014
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Transcriptomic analysis of autistic brain reveals convergent molecular pathology.
Irina Voineagu, Xinchen Wang, Patrick Johnston, Jennifer K Lowe, Yuan Tian, Steve Horvath, Jonathan Mill, Rita M Cantor, Benjamin J Blencowe, Daniel H Geschwind. Nature 2011
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A neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice.
Katsuhiko Tabuchi, Jacqueline Blundell, Mark R Etherton, Robert E Hammer, Xinran Liu, Craig M Powell, Thomas C Südhof. Science 2007
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Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.
Pedro Rodenas-Cuadrado, Nicola Pietrafusa, Teresa Francavilla, Angela La Neve, Pasquale Striano, Sonja C Vernes. BMC Med Genet 2016
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Selective Dysregulation of Hippocampal Inhibition in the Mouse Lacking Autism Candidate Gene CNTNAP2.
Sofia Jurgensen, Pablo E Castillo. J Neurosci 2015
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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction.
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Advancing the understanding of autism disease mechanisms through genetics.
Luis de la Torre-Ubieta, Hyejung Won, Jason L Stein, Daniel H Geschwind. Nat Med 2016
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Expression of Cntnap2 (Caspr2) in multiple levels of sensory systems.
Aaron Gordon, Daniela Salomon, Noy Barak, Yefim Pen, Michael Tsoory, Tali Kimchi, Elior Peles. Mol Cell Neurosci 2016
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Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.
Martin Poot, Vera Beyer, Ira Schwaab, Natalja Damatova, Ruben Van't Slot, Jo Prothero, Sue E Holder, Thomas Haaf. Neurogenetics 2010
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9
Modulation of prefrontal cortex excitation/inhibition balance rescues social behavior in CNTNAP2-deficient mice.
Aslihan Selimbeyoglu, Christina K Kim, Masatoshi Inoue, Soo Yeun Lee, Alice S O Hong, Isaac Kauvar, Charu Ramakrishnan, Lief E Fenno, Thomas J Davidson, Matthew Wright,[...]. Sci Transl Med 2017
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PLINK: a tool set for whole-genome association and population-based linkage analyses.
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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.
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8
Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.