Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

Haploview: analysis and visualization of LD and haplotype maps

Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2004) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,563

Linear Models and Empirical Bayes Methods for Assessing Differential Expression in Microarray Experiments

Smyth, G. K. (2004) · Statistical Applications in Genetics and Molecular Biology · doi:10.2202/1544-6115.1027 · Cited by 11,829

Exploration, normalization, and summaries of high density oligonucleotide array probe level data

Irizarry, R. A. (2003) · Biostatistics · doi:10.1093/biostatistics/4.2.249 · Cited by 10,603

Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders

Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065

A haplotype map of the human genome

The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858

Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795

Large-scale copy number polymorphism in the human genome

Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557

Linkage disequilibrium in finite populations

Hill, W. G., & Robertson, A. (1968) · Theoretical and Applied Genetics · doi:10.1007/bf01245622 · Cited by 2,035

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851

Genetic data analysis II: methods for discrete population genetic data

(1996) · Choice Reviews Online · doi:10.5860/choice.34-2150 · Cited by 1,626

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

Cukier, H. N., Rabionet, R., Konidari, I., Rayner‐Evans, M. Y., Baltos, M. L., Wright, H. H., Abramson, R. K., Martin, E. R., Cuccaro, M. L., Pericak‐Vance, M. A., et al. (2009) · Neurogenetics · doi:10.1007/s10048-009-0228-7 · Cited by 79

Identification of a microdeletion at the 7q33‐q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

Petrin, A. L., Giacheti, C. M., Maximino, L. P., Abramides, D. V. M., Zanchetta, S., Rossi, N. F., Richieri‐Costa, A., & Murray, J. C. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33749 · Cited by 82

CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders

Mercati, O., Huguet, G., Danckaert, A., André-Leroux, G., Maruani, A., Bellinzoni, M., Rolland, T., Gouder, L., Mathieu, A., Buratti, J., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.61 · Cited by 87

E3 Ubiquitin Ligases Neurobiological Mechanisms: Development to Degeneration

Upadhyay, A., Joshi, V., Amanullah, A., Mishra, R., Arora, N., Prasad, A., & Mishra, A. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00151 · Cited by 80

FOXP2 Targets Show Evidence of Positive Selection in European Populations

Ayub, Q., Yngvadóttir, B., Chen, Y., Xue, Y., Hu, M., Vernes, S. C., Fisher, S. E., & Tyler‐Smith, C. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.03.019 · Cited by 78

Overview of Mouse Models of Autism Spectrum Disorders

Bey, A. L., & Jiang, Y. (2014) · Current Protocols in Pharmacology · doi:10.1002/0471141755.ph0566s66 · Cited by 85

Genetically meaningful phenotypic subgroups in autism spectrum disorders

Veatch, O. J., Veenstra-VanderWeele, J. M., Potter, M. H., Pericak‐Vance, M. A., & Haines, J. L. (2013) · Genes Brain & Behavior · doi:10.1111/gbb.12117 · Cited by 78

Non-word Repetition Impairment in Autism and Specific Language Impairment: Evidence for Distinct Underlying Cognitive Causes

Williams, D. M., Payne, H., & Marshall, C. R. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1579-8 · Cited by 77

Language growth and genetics of specific language impairment

Rice, M. L. (2013) · International Journal of Speech-Language Pathology · doi:10.3109/17549507.2013.783113 · Cited by 77

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Prasov, L., Masud, T., Khaliq, S., Mehdi, S. Q., Abid, A., Oliver, E. R., Silva, E. D., Lewanda, A., Brodsky, M. C., Borchert, M., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds197 · Cited by 76

Monogenic mouse models of autism spectrum disorders: Common mechanisms and missing links

Hulbert, S. W., & Jiang, Y. (2015) · Neuroscience · doi:10.1016/j.neuroscience.2015.12.040 · Cited by 76

Functional analysis ofTCF4missense mutations that cause Pitt-Hopkins syndrome

Forrest, M. P., Chapman, R. M., Doyle, A. M., Tinsley, C. L., Waite, A. J., & Blake, D. J. (2012) · Human Mutation · doi:10.1002/humu.22160 · Cited by 73

Neurobiology of autism gene products: towards pathogenesis and drug targets

Kleijer, K. T. E., Schmeißer, M. J., Krueger‐Burg, D., Boeckers, T. M., Scheiffele, P., Bourgeron, T., Brose, N., & Burbach, J. P. H. (2014) · Psychopharmacology · doi:10.1007/s00213-013-3403-3 · Cited by 80

Coupling Diffusion Imaging with Histological and Gene Expression Analysis to Examine the Dynamics of Cortical Areas across the Fetal Period of Human Brain Development

Huang, H., Jeon, T., Sedmak, G., Pletikos, M., Vasung, L., Xu, X., Yarowsky, P., Richards, L. J., Kostović, I., Šestan, N., et al. (2012) · Cerebral Cortex · doi:10.1093/cercor/bhs241 · Cited by 76

Evidence for shared deficits in identifying emotions from faces and from voices in autism spectrum disorders and specific language impairment

Taylor, L. J., Maybery, M. T., Grayndler, L., & Whitehouse, A. (2015) · International Journal of Language & Communication Disorders · doi:10.1111/1460-6984.12146 · Cited by 82

Language delay aggregates in toddler siblings of children with autism spectrum disorder

for the IBIS Network, Marrus, N. M., Hall, L., Paterson, S., Elison, J. T., Wolff, J. J., Swanson, M. R., Parish‐Morris, J., Eggebrecht, A. T., Pruett, J. R., et al. (2018) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-018-9247-8 · Cited by 73

The PI3K signaling pathway as a pharmacological target in Autism related disorders and Schizophrenia

Enríquez-Barreto, L., & Morales, M. (2016) · Journal of Green Engineering · doi:10.1186/s40591-016-0047-9 · Cited by 73

Transcriptional vulnerabilities of striatal neurons in human and rodent models of Huntington’s disease

Matsushima, A., Pineda, S. S., Crittenden, J. R., Lee, H., Galani, K., Mantero, J. C., Tombaugh, G. C., Kellis, M., Heiman, M., & Graybiel, A. M. (2023) · Nature Communications · doi:10.1038/s41467-022-35752-x · Cited by 72

A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea

Rossi, E. G., Verri, A. P., Patricelli, M. G., Destefani, V., Ricca, I., Vetro, A., Ciccone, R., Giorda, R., Toniolo, D., Maraschio, P., et al. (2008) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2008.06.010 · Cited by 74

Impairment of learning and memory in TAG-1 deficient mice associated with shorter CNS internodes and disrupted juxtaparanodes

Savvaki, M., Panagiotaropoulos, T. I., Stamatakis, A., Sargiannidou, I., Karatzioula, P., Watanabe, K., Stylianopoulou, F., Karagogeos, D., & Kleopa, K. A. (2008) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2008.07.025 · Cited by 76

Toward epigenetic and gene regulation models of specific language impairment: looking for links among growth, genes, and impairments

Rice, M. L. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-27 · Cited by 74

Behavioral and Cerebellar Transmission Deficits in Mice Lacking the Autism-Linked Gene Islet Brain-2

Giza, J., Urbanski, M. J., Prestori, F., Bandyopadhyay, B., Yam, A., Friedrich, V., Kelley, K., D'Angelo, E., & Goldfarb, M. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.1161-10.2010 · Cited by 68

Autoantibodies to central nervous system neuronal surface antigens: psychiatric symptoms and psychopharmacological implications

Pollak, T. A., Beck, K., Irani, S. R., Howes, O. D., David, A. S., & McGuire, P. K. (2015) · Psychopharmacology · doi:10.1007/s00213-015-4156-y · Cited by 72

Shank mutant mice as an animal model of autism

Yoo, J., Bakes, J., Bradley, C. A., Collingridge, G. L., & Kaang, B. (2013) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2013.0143 · Cited by 76

Deleterious GRM1 Mutations in Schizophrenia

Ayoub, M. A., Angelicheva, D., Vile, D., Chandler, D., Morar, B., Cavanaugh, J. A., Visscher, P. M., Jablensky, A. V., Pfleger, K. D. G., & Kalaydjieva, L. V. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032849 · Cited by 71

Enhancing inhibitory synaptic function reverses spatial memory deficits in Shank2 mutant mice

Lim, C., Kim, H., Yu, N., Kang, S. J., Kim, T., Ko, H., Lee, J., Yang, J.-E., Ryu, H.-H., Park, T., et al. (2016) · Neuropharmacology · doi:10.1016/j.neuropharm.2016.08.016 · Cited by 74

Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice

Xing, X., Zhang, J., Wu, K., Cao, B., Li, X., Jiang, F., Hu, Z., Xia, K., & Li, J. (2019) · Scientific Reports · doi:10.1038/s41598-019-39434-5 · Cited by 77

Evidence for Distinct Cognitive Profiles in Autism Spectrum Disorders and Specific Language Impairment

Taylor, L. J., Maybery, M. T., Grayndler, L., & Whitehouse, A. (2013) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-013-1847-2 · Cited by 75

The role of Pax6 in brain development and its impact on pathogenesis of autism spectrum disorder

Kikkawa, T., Casingal, C. R., Chun, S. H., Shinohara, H. M., Hiraoka, K., & Osumi, N. (2018) · Brain Research · doi:10.1016/j.brainres.2018.02.041 · Cited by 67

Globularity and language-readiness: generating new predictions by expanding the set of genes of interest

Boeckx, C. A., & Benítez‐Burraco, A. (2014) · Frontiers in Psychology · doi:10.3389/fpsyg.2014.01324 · Cited by 65

CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population

Ji, W., Li, T., Pan, Y., Tao, H., Ju, K., Wen, Z., Fu, Y., An, Z., Zhao, Q., Wang, T., et al. (2012) · Psychiatry Research · doi:10.1016/j.psychres.2012.09.024 · Cited by 68

Autism genetics – an overview

Yin, J., & Schaaf, C. P. (2016) · Prenatal Diagnosis · doi:10.1002/pd.4942 · Cited by 78

Chapter 15: Disease Gene Prioritization

Bromberg, Y. (2013) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1002902 · Cited by 69

Nuclear and Mitochondrial Genome Defects in Autisms

Smith, M., Spence, M. A., & Flodman, P. L. (2008) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2008.03571.x · Cited by 67

Expression of Cntnap2 (Caspr2) in multiple levels of sensory systems

Gordon, A., Salomon, D., Barak, N., Pen, Y., Tsoory, M., Kimchi, T., & Peles, E. (2015) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2015.11.012 · Cited by 67

Repint of “Reframing autism as a behavioral syndrome and not a specific mental disorder: Implications of genetic and phenotypic heterogeneity”

Tordjman, S., Cohen, D., Anderson, G. M., Botbol, M., Canitano, R., Coulon, N., & Roubertoux, P. L. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.01.014 · Cited by 71

The Role of the FOXP Family of Transcription Factors in ASD

Bowers, J. M., & Konopka, G. (2012) · Disease Markers · doi:10.1155/2012/456787 · Cited by 66

Altered Auditory Processing, Filtering, and Reactivity in theCntnap2Knock-Out Rat Model for Neurodevelopmental Disorders

Scott, K. E., Schormans, A. L., Pacoli, K., Oliveira, C. D., Allman, B. L., & Schmid, S. (2018) · Journal of Neuroscience · doi:10.1523/jneurosci.0759-18.2018 · Cited by 70

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

Krumbiegel, M., Pasutto, F., Schlötzer-Schrehardt, U. M., Uebe, S., Zenkel, M., Mardin, C. Y., Weisschuh, N., Paoli, D., Gramer, E., Becker, C., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2010.144 · Cited by 64

Reduced Language Lateralization in Autism and the Broader Autism Phenotype as Assessed with Robust Individual‐Subjects Analyses

Jouravlev, O., Kell, A. J. E., Mineroff, Z., Haskins, A. J., Ayyash, D., Kanwisher, N., & Fedorenko, E. G. (2020) · Autism Research · doi:10.1002/aur.2393 · Cited by 66

Mouse Models of Autism: Testing Hypotheses About Molecular Mechanisms

Roullet, F., & Crawley, J. N. (2011) · Current topics in behavioral neurosciences · doi:10.1007/7854_2010_113 · Cited by 67

A genome-wide association study in progressive multiple sclerosis

Boneschi, F. M., Esposito, F., Brambilla, P., Lindström, E., Lavorgna, G., Stankovich, J. M., Rodegher, M., Capra, R., Ghezzi, A., Coniglio, G., et al. (2012) · Multiple Sclerosis Journal · doi:10.1177/1352458512439118 · Cited by 65

Neurexins 1–3 Each Have a Distinct Pattern of Expression in the Early Developing Human Cerebral Cortex

Harkin, L. F., Lindsay, S., Xu, Y., Alzu’bi, A., Ferrara, A., Gullon, E. A., James, O. G., & Clowry, G. J. (2016) · Cerebral Cortex · doi:10.1093/cercor/bhw394 · Cited by 68

Molecular Architecture of Contactin-associated Protein-like 2 (CNTNAP2) and Its Interaction with Contactin 2 (CNTN2)

Lu, Z., Reddy, M., Liu, J., Kalichava, A., Liu, J., Zhang, L., Chen, F., Wang, Y., Holthauzen, L. M. F., White, M. A., et al. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.748236 · Cited by 67

Molecular networks of the FOXP2 transcription factor in the brain

den Hoed, J., Devaraju, K., & Fisher, S. E. (2021) · EMBO Reports · doi:10.15252/embr.202152803 · Cited by 64

Language deficits in schizophrenia and autism as related oscillatory connectomopathies: An evolutionary account

Murphy, E., & Benítez‐Burraco, A. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.07.029 · Cited by 66

Parent-Of-Origin Effects in Autism Identified through Genome-Wide Linkage Analysis of 16,000 SNPs

Fradin, D., Cheslack‐Postava, K., Ladd‐Acosta, C., Newschaffer, C. J., Chakravarti, A., Arking, D. E., Feinberg, A. P., & Fallin, M. D. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012513 · Cited by 65

Increased gene expression of FOXP1 in patients with autism spectrum disorders

Chien, W., Gau, S. S., Chen, C., Tsai, W., Wu, Y.-Y., Chen, P., Shang, C., & Chen, C. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-23 · Cited by 65

Contactin 4 as an autism susceptibility locus

Cottrell, C. E., Bir, N., Varga, E., Alvarez, C. E., Bouyain, S., Zernzach, R. C., Thrush, D. L., Evans, J., Trimarchi, M. P., Butter, E. M., et al. (2011) · Autism Research · doi:10.1002/aur.184 · Cited by 64

What’s new in autism?

Steyaert, J. G., & la Marche, W. D. (2008) · European Journal of Pediatrics · doi:10.1007/s00431-008-0764-4 · Cited by 63

Loss of Cntnap2 in the Rat Causes Autism‐Related Alterations in Social Interactions, Stereotypic Behavior, and Sensory Processing

Scott, K. E., Kazazian, K., Mann, R. S., Möhrle, D., Schormans, A. L., Schmid, S., & Allman, B. L. (2020) · Autism Research · doi:10.1002/aur.2364 · Cited by 62

MACROD2 gene associated with autistic-like traits in a general population sample

Jones, R., Cadby, G., Blangero, J., Abraham, L. J., Whitehouse, A., & Moses, E. K. (2014) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000052 · Cited by 60

Converging Evidence for an Association of ATP2B2 Allelic Variants with Autism in Male Subjects

Carayol, J., Sacco, R., Tores, F., Rousseau, F., Lewin, P., Hager, J., & Persico, A. M. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.05.020 · Cited by 59

Diverse Non-genetic, Allele-Specific Expression Effects Shape Genetic Architecture at the Cellular Level in the Mammalian Brain

Huang, W.-C., Ferris, E., Cheng, T., Hörndli, C. S., Gleason, K., Tamminga, C. A., Wagner, J. D., Boucher, K. M., Christian, J. L., & Gregg, C. J. (2017) · Neuron · doi:10.1016/j.neuron.2017.01.033 · Cited by 59

Composition, assembly, and maintenance of excitable membrane domains in myelinated axons

Rasband, M. N. (2010) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2010.09.010 · Cited by 62

A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism

Kumar, R. A., Sudi, J., Babatz, T. D., Brune, C. W., Oswald, D. P., Yen, M., Nowak, N. J., Cook, E. H., Christian, S. L., & Dobyns, W. B. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.065821 · Cited by 63

Mutation in Parkinson Disease-Associated, G-Protein-Coupled Receptor 37 (GPR37/PaelR) Is Related to Autism Spectrum Disorder

Fujita‐Jimbo, E., Yu, Z.-L., Li, H., Yamagata, T., Mori, M., Momoi, T., & Momoi, M. Y. (2012) · PLoS ONE · doi:10.1371/journal.pone.0051155 · Cited by 63

No Evidence for Association of Autism with Rare Heterozygous Point Mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins

Murdoch, J. D., Gupta, A. R., Sanders, S., Walker, M. F., Keaney, J. F., Fernandez, T. V., Murtha, M. T., Anyanwu, S. I., Ober, G., Raubeson, M. J., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1004852 · Cited by 63

Dysregulation of Neurite Outgrowth and Cell Migration in Autism and Other Neurodevelopmental Disorders

Prem, S., Millonig, J. H., & DiCicco-Bloom, E. M. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-45493-7_5 · Cited by 59

Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees

Coon, H. H., Villalobos, M., Robison, R. J., Camp, N. J., Cannon, D. S., Allen‐Brady, K., Miller, J. S., & McMahon, W. M. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-8 · Cited by 58

CNTNAP2 stabilizes interneuron dendritic arbors through CASK

Gao, R., Piguel, N. H., Melendez-Zaidi, A. E., Martin‐de‐Saavedra, M. D., Yoon, S., Forrest, M. P., Myczek, K., Zhang, F. G., Russell, T. A., Csernansky, J. G., et al. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0027-3 · Cited by 57

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

Smogavec, M., Cleall, A., Hoyer, J., Lederer, D., Nassogne, M.-C., Palmer, E. E., Deprez, M., Benoit, V., Maystadt, I., Noakes, C., et al. (2016) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2016-103880 · Cited by 56

Neurexin 3 transmembrane and soluble isoform expression and splicing haplotype are associated with neuron inflammasome and Alzheimer’s disease

Hishimoto, A., Pletnikova, O., Lang, D. L., Troncoso, J. C., Egan, J. M., & Liu, Q.-R. (2019) · Alzheimer's Research & Therapy · doi:10.1186/s13195-019-0475-2 · Cited by 62

Parvalbumin and parvalbumin chandelier interneurons in autism and other psychiatric disorders

Juárez, P., & Martínez‐Cerdeño, V. (2022) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2022.913550 · Cited by 56

Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population

Li, X., Hu, Z., He, Y., Xiong, Z., Long, Z., Peng, Y., Bu, F., Ling, J., Xun, G., Mo, X., et al. (2010) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32833a216f · Cited by 60

HLA Immune Function Genes in Autism

Torres, A., Westover, J. B., & Rosenspire, A. J. (2012) · Autism Research and Treatment · doi:10.1155/2012/959073 · Cited by 59

The neurobiology of syntax: beyond string sets

Petersson, K. M., & Peter Hagoort, A. (2012) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2012.0101 · Cited by 60

Genome‐wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways

Sherva, R., Gross, A., Mukherjee, S., Koesterer, R., Amouyel, P., Bellenguez, C., Dufouil, C., Bennett, D. A., Chibnik, L., Cruchaga, C., et al. (2020) · Alzheimer's & Dementia · doi:10.1002/alz.12106 · Cited by 54

Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

Tang, C. S.-M., Cheng, G., So, M., Yip, B. H. K., Miao, X., Wong, E. H.-M., Ngan, E., Lui, V. C., Song, Y., Chan, D. T.-M., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002687 · Cited by 54

Analysis of two language-related genes in autism

Claudio Toma, A., Amaia Hervas, G., Torrico, B., Balmaña, N., Salgado, M., Maristany, M., Vilella, E., Martínez‐Leal, R., Planelles, M. I., Cuscó, I., et al. (2012) · Psychiatric Genetics · doi:10.1097/ypg.0b013e32835d6fc6 · Cited by 58

A Genome-Wide Association Study of Social and Non-Social Autistic-Like Traits in the General Population Using Pooled DNA, 500 K SNP Microarrays and Both Community and Diagnosed Autism Replication Samples

Ronald, A., Butcher, L. M., Docherty, S. J., Davis, O. S. P., Schalkwyk, L. C., Craig, I., & Plomin, R. J. (2009) · Behavior Genetics · doi:10.1007/s10519-009-9308-6 · Cited by 57

Possible functional links among brain- and skull-related genes selected in modern humans

Benítez‐Burraco, A., & Boeckx, C. A. (2015) · Frontiers in Psychology · doi:10.3389/fpsyg.2015.00794 · Cited by 55

A white paper on a neurodevelopmental framework for drug discovery in autism and other neurodevelopmental disorders

Díaz‐Caneja, C. M., State, M. W., Hagerman, R. J., Jacquemont, S., Marín, Ó., Bagni, C., Umbricht, D., Simonoff, E. A., Andres-Trelles, F., Kaale, A., et al. (2021) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2021.02.020 · Cited by 56

Disrupted AMPA Receptor Function upon Genetic- or Antibody-Mediated Loss of Autism-Associated CASPR2

Fernandes, D., Santos, S. D., Coutinho, E., Whitt, J. L., Beltrão, N., Rondão, T., Leite, M. I., Buckley, C. J., Lee, H., & Carvalho, A. L. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz032 · Cited by 59

Interneuron development and dysfunction

Yang, J., Yang, X. W., & Tang, K. (2021) · FEBS Journal · doi:10.1111/febs.15872 · Cited by 54

Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis

Jang, W. E., Park, J. H., Park, G., Bang, G., Na, C. H., Kim, J. Y., Kim, K.-Y., Kim, K. P., Shin, C. Y., An, J., et al. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01822-1 · Cited by 58

Social Responsiveness, an Autism Endophenotype: Genomewide Significant Linkage to Two Regions on Chromosome 8

Lowe, J. K., Werling, D. M., Constantino, J. N., Cantor, R. M., & Geschwind, D. H. (2014) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2014.14050576 · Cited by 53

Emerging Pharmacotherapies for Neurodevelopmental Disorders

Wetmore, D. Z., & Garner, C. C. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181ee3833 · Cited by 56

The DISC1 promoter: characterization and regulation by FOXP2

Walker, R. M., Hill, A. E., Newman, A. C., Hamilton, G., Torrance, H. S., Anderson, S. M., Ogawa, F., Deriziotis, P., Nicod, J., Vernes, S. C., et al. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds111 · Cited by 55

Genetics and the Language Sciences

Fisher, S. E., & Vernes, S. C. (2014) · Annual Review of Linguistics · doi:10.1146/annurev-linguist-030514-125024 · Cited by 55

Haploinsufficiency of CMIP in a Girl With Autism Spectrum Disorder and Developmental Delay due to a De Novo Deletion on Chromosome 16q23.2

der Aa, N. V., Vandeweyer, G., Reyniers, E., Kenis, S., Dom, L., Mortier, G. R., Rooms, L., & Kooy, R. F. (2012) · Autism Research · doi:10.1002/aur.1240 · Cited by 53

Symptomatic, Genetic, and Mechanistic Overlaps between Autism and Alzheimer’s Disease

Nadeem, M. S., Hosawi, S. B. I., Alshehri, S., Ghoneim, M. M., Imam, S. S., Murtaza, B. N., & Kazmi, I. A. (2021) · Biomolecules · doi:10.3390/biom11111635 · Cited by 60

Inherited genetic variants in autism-related CNTNAP2 show perturbed trafficking and ATF6 activation

Falivelli, G., Jaco, A. D., Favaloro, F. L., Kim, H.-G., Wilson, J., Dubi, N., Ellisman, M. H., Abrahams, B. S., Taylor, P., & Comoletti, D. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds320 · Cited by 56

Genotator: A disease-agnostic tool for genetic annotation of disease

Wall, D. P., Perotte, R., Tong, M. Y., Jung, J.-Y., Fusaro, V. A., DeLuca, T. F., & Tonellato, P. J. (2010) · BMC Medical Genomics · doi:10.1186/1755-8794-3-50 · Cited by 54

Implicit Artificial Syntax Processing: Genes, Preference, and Bounded Recursion

Folia, V., Forkstam, C., Ingvar, M., & Petersson, K. M. (2011) · Biolinguistics · doi:10.5964/bioling.8835 · Cited by 51

Dendritic Integration Dysfunction in Neurodevelopmental Disorders

Nelson, A. D., & Bender, K. J. (2021) · Developmental Neuroscience · doi:10.1159/000516657 · Cited by 54

Direct Downregulation of CNTNAP2 by STOX1A is Associated with Alzheimer's Disease

van Abel, D., Michel, O. J., Veerhuis, R., Jacobs, M., van Dijk, M., & Oudejans, C. B. M. (2012) · Journal of Alzheimer s Disease · doi:10.3233/jad-2012-120472 · Cited by 52

The Autism Candidate Gene Neurobeachin Encodes a Scaffolding Protein Implicated in Membrane Trafficking and Signaling

Volders, K., Nuytens, K., & Creemers, J. W. M. (2011) · Current Molecular Medicine · doi:10.2174/156652411795243432 · Cited by 54

Links between genetics and pathophysiology in the autism spectrum disorders

Holt, R., & Monaco, A. P. (2011) · EMBO Molecular Medicine · doi:10.1002/emmm.201100157 · Cited by 52

Artificial escape from XCI by DNA methylation editing of the CDKL5 gene

Halmai, J. A. N. M., Deng, P., Gonzalez, C. E., Halmai, N. B., Cameron, D. L., Carter, J., Buchanan, F. K. B., Waldo, J. J., Lock, S., Anderson, J. D., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz1214 · Cited by 54

Glutamatergic Dysfunction and Synaptic Ultrastructural Alterations in Schizophrenia and Autism Spectrum Disorder: Evidence from Human and Rodent Studies

Eltokhi, A., Santuy, A., Merchán-Pérez, Á., & Sprengel, R. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms22010059 · Cited by 54

Contactins

Zuko, A., Bouyain, S., van der Zwaag, B., & Burbach, J. P. H. (2011) · Advances in protein chemistry and structural biology · doi:10.1016/b978-0-12-386483-3.00001-x · Cited by 54

Emerging atypicalities in functional connectivity of language-related networks in young infants at high familial risk for ASD

Liu, J., Okada, N. J., Cummings, K. K., Jung, J., Patterson, G., Bookheimer, S. Y., Jeste, S., & Dapretto, M. (2020) · Developmental Cognitive Neuroscience · doi:10.1016/j.dcn.2020.100814 · Cited by 53

ZEBrA: Zebra finch Expression Brain Atlas—A resource for comparative molecular neuroanatomy and brain evolution studies

Lovell, P. V., Wirthlin, M. E., Kaser, T., Buckner, A. A., Carleton, J. B., Snider, B. R., McHugh, A. K., Tolpygo, A. S., Mitra, P. P., & Mello, C. V. (2020) · The Journal of Comparative Neurology · doi:10.1002/cne.24879 · Cited by 50

Mutant Mouse Models of Autism Spectrum Disorders

Provenzano, G., Zunino, G., Genovesi, S., Sgadó, P., & Bozzi, Y. (2012) · Disease Markers · doi:10.1155/2012/916082 · Cited by 53

Language‐related Cntnap2 gene is differentially expressed in sexually dimorphic song nuclei essential for vocal learning in songbirds

Panaitof, S. C., Abrahams, B. S., Dong, H., Geschwind, D. H., & White, S. A. (2010) · Journal of Comparative Neurology · doi:10.1002/cne.22318 · Cited by 49

MET Receptor Tyrosine Kinase as an Autism Genetic Risk Factor

Peng, Y., Huentelman, M., Smith, C., & Qiu, S. (2013) · International Review of Neurobiology · doi:10.1016/b978-0-12-418700-9.00005-8 · Cited by 49

Autism, the Integrations of ‘Difference’ and the Origins of Modern Human Behaviour

Spikins, P. (2009) · Cambridge Archaeological Journal · doi:10.1017/s0959774309000262 · Cited by 51

A Schizophrenia-Related Genetic-Brain-Cognition Pathway Revealed in a Large Chinese Population

Luo, N., Jing Sui （Beijing Normal University）， my correct affiliation is beijing normal university, N. Q. U. O. S. A. T., Chen, J., Zhang, F., Tian, L., Lin, D., Song, M., Calhoun, V. D., Cui, Y. J., Vergara, V. M., et al. (2018) · EBioMedicine · doi:10.1016/j.ebiom.2018.10.009 · Cited by 50

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders

Claudio Toma, A., Pierce, K. D., Shaw, A. D., Heath, A., Mitchell, P. B., Schofield, P. R., & Fullerton, J. M. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007535 · Cited by 51

Defining the Contribution of CNTNAP2 to Autism Susceptibility

Sampath, S., Bhat, S., Gupta, S., O’Connor, A., West, A. B., Arking, D. E., & Chakravarti, A. (2013) · PLoS ONE · doi:10.1371/journal.pone.0077906 · Cited by 39

Defining the Contribution of CNTNAP2 to Autism

Sampath, S., Bhat, S., Gupta, S., West, A. B., Dan, E., & Chakravarti, A. (2013)

Single nucleotide polymorphisms in the CNTNAP2 gene in Brazilian patients with autistic spectrum disorder

Nascimento, P. P., Bossolani-Martins, A. L., Rosan, D. B. A., de Mattos, L. C., Brandão, C. C., & Fett‐Conte, A. C. (2016) · Genetics and Molecular Research · doi:10.4238/gmr.15017422 · Cited by 36

Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2

Cormand, B., Bayes, M., Ribasés, M., Ramos‐Quiroga, J. A., Perez-Costillas, L., de Diego‐Otero, Y., Caballero‐Andaluz, R., Jurado, L. A. P., del Campo, M., Cuscó, I., et al. (2013) · Repositori institucional URV (Universitat Rovira i Virgili)

The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population

Zare, S., Mashayekhi, F., & Bidabadi, E. (2017) · Journal of Clinical Neuroscience · doi:10.1016/j.jocn.2017.01.008 · Cited by 29