The DOI matches its Crossref record; 65 of the 67 references it cites were found in a registry or an index.
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
Open accessAbstract
Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based disorders. Gene-expression analyses in developing human brain further identified CNTNAP2 as enriched in circuits important for language development. Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“while the fourth is a homologue of the autism susceptibility gene CNTNAP2 17 .”
From Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology (2011) · cites this paper as [17]
Experimental — accuracy not yet measuredIn the citing paper
“Two common polymorphisms in a relatively circumscribed area of CNTNAP2 have been shown to modulate language function in ASD and other conditions [59–61].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [59]
In the citing paper
“Common variants in CNTNAP2 have also been associated with ASD (49–51) and specific-language impairment (52).”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [49]
In the citing paper
“To incorporate construct validity for the various genetic mutations identified in small numbers of people with autism (12–21), these mutations have been generated in mice (22, 23).”
From Negative allosteric modulation of the mGluR5 receptor reduces repetitive behaviors and rescues social deficits in mouse models of autism (2012) · cites this paper as [14]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
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 14,551
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
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
Self-citationLarge-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
Self-citationLinkage 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
Flagged first, then by citations
2 of the 67 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Items 501–600 of 814
Fang, F., Ge, M., Liu, J., Zhang, Z., Yu, H. Y., Zhu, S., Xu, L., & Shao, L. (2021) · Behavioural Neurology · doi:10.1155/2021/4150926 · Cited by 15
HySec-Flow: Privacy-Preserving Genomic Computing with SGX-based Big-Data Analytics Framework
Widanage, C., Liu, W., Li, J., Chen, H., Wang, X., Tang, H., & Fox, J. (2021) · IEEE ... International Conference on Cloud Computing · doi:10.1109/cloud53861.2021.00098 · Cited by 15
The Emerging Role of the Gut–Brain–Microbiota Axis in Neurodevelopmental Disorders
Hosie, S., Abo-Shaban, T., Lee, C. Y. Q., Matta, S. M., Shindler, A. E., Gore, R., Sharna, S. S., Herath, M., Crack, P. J., Franks, A. E., et al. (2022) · Advances in experimental medicine and biology · doi:10.1007/978-3-031-05843-1_14 · Cited by 16
Cantor, R. M. (2009) · Current Psychiatry Reports · doi:10.1007/s11920-009-0021-1 · Cited by 15
Self-citationEndophenotypes in Autism Spectrum Disorders
Persico, A. M., & Sacco, R. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_1 · Cited by 17
Copy variations in schizophrenia and bipolar disorder
Lachman, H. M. (2008) · Cytogenetic and Genome Research · doi:10.1159/000184689 · Cited by 15
Copy-Number Variations Associated with Autism Spectrum Disorder
Kakinuma, H., & Sato, H. (2008) · Pharmacogenomics · doi:10.2217/14622416.9.8.1143 · Cited by 16
Taylor, M. J., Charman, T., Robinson, E., Hayiou‐Thomas, M. E., Happe, F. G. E., Dale, P. S., & Ronald, A. (2014) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32262 · Cited by 17
Fogel, B. L., & Geschwind, D. H. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-0434-1.00040-2 · Cited by 14
Self-citationEtiologies and Molecular Mechanisms of Communication Disorders
Smith, S. D., Grigorenko, E. L., Willcutt, E. G., Pennington, B. F., Olson, R. K., & DeFries, J. C. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181ee3d9e · Cited by 15
Flax, J. F., Hare, A., Azaro, M. A., Vieland, V. J., & Brzustowicz, L. M. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9063-2 · Cited by 14
Prenatal Development of the Human Fetal Telencephalon
Judáš, M. (2010) · Medical radiology · doi:10.1007/174_2010_119 · Cited by 14
Diagnostic yield of array CGH in patients with autism spectrum disorder in Hong Kong
Siu, W., Lam, C., Mak, C. M., Lau, E. T., Tang, M. H. Y., Tang, W., Poon‐Mak, R. S., Lee, C., Hung, S., Leung, P. W. L., et al. (2016) · Clinical and Translational Medicine · doi:10.1186/s40169-016-0098-1 · Cited by 13
New Horizons for Molecular Genetics Diagnostic and Research in Autism Spectrum Disorder
Al-Dewik, N. I. E., & Alsharshani, M. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-30402-7_2 · Cited by 13
Abrahams, B. S., & Geschwind, D. H. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_29 · Cited by 15
Self-citationCNTN4 modulates neural elongation through interplay with APP
Bamford, R. A., Zuko, A., Eve, M., Sprengers, J. J., Post, H., Taggenbrock, R. L. R. E., Fäβler, D., Mehr, A., Jones, O. J. R., Kudzinskas, A., et al. (2024) · Open Biology · doi:10.1098/rsob.240018 · Cited by 13
Degraded tactile coding in the Cntnap2 mouse model of autism
Wang, H. C., & Feldman, D. E. (2024) · Cell Reports · doi:10.1016/j.celrep.2024.114612 · Cited by 14
Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population
Li, J., You, Y., Yue, W., Yu, H., Lu, T., Wu, Z., Jia, M., Ruan, Y., Liu, J., Zhang, D., et al. (2015) · Neuroscience Letters · doi:10.1016/j.neulet.2015.10.074 · Cited by 13
Lee, E. C., & Hu, V. W. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21186877 · Cited by 13
Otazu, G. H., Li, Y., Lodato, Z., Elnasher, A., Keever, K. M., Li, Y., & Ramos, R. L. (2021) · Neuroscience Letters · doi:10.1016/j.neulet.2021.136257 · Cited by 13
Dauwerse, J. G., Ruivenkamp, C. A. L., Hansson, K. B. M., Marijnissen, G. M., Peters, D. J. M., Breuning, M. H., & Hilhorst‐Hofstee, Y. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33203 · Cited by 13
Terashima, H., Minatohara, K., Maruoka, H., & Okabe, S. (2021) · Microscopy · doi:10.1093/jmicro/dfab039 · Cited by 15
Sy, M. R., Chauhan, J., Prescott, K., Imam, A., Kraus, A., Beleza‐Meireles, A., Salkeld, L., Hosdurga, S., Parker, M. J., Vasudevan, P. C., et al. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62976 · Cited by 12
Truong, D. T., Shriberg, L. D., Smith, S., Chapman, K. L., Scheer-Cohen, A. R., DeMille, M. M. C., Adams, A. K., Nato, A. Q., Wijsman, E. M., Eicher, J. D., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1717-z · Cited by 12
Nudel, R., Appadurai, V., Buil, A., Nordentoft, M., & Werge, T. M. (2021) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-021-09403-z · Cited by 12
Hassan, W. M., Al-Dbass, A. M., AL-Ayadhi, L. Y., Bhat, R. S., & El-Ansary, A. K. (2022) · Scientific Reports · doi:10.1038/s41598-022-07829-6 · Cited by 12
Gandhi, T., Liu, C., Adeyelu, T. T., Canepa, C. R., & Lee, C. C. (2023) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2023.1114789 · Cited by 13
A Molecular Genetic Perspective on Speech and Language
Fisher, S. E. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-407794-2.00002-x · Cited by 13
Iakoubov, L. Z., Mossakowska, M., Szwed, M., & Puzianowska‐Kuźnicka, M. (2014) · Gerontology · doi:10.1159/000363320 · Cited by 12
At the height of fashion: what genetics can teach us about neurodevelopmental disabilities
Grigorenko, E. L. (2009) · Current Opinion in Neurology · doi:10.1097/wco.0b013e3283292414 · Cited by 12
Nakajima, M., Mori, H., Nishikawa, C., Tsuruta, M., Okuyama, S., & Furukawa, Y. (2012) · Journal of Neurochemistry · doi:10.1111/jnc.12085 · Cited by 12
Rendall, A. R., Ford, A., Perrino, P. A., & FITCH, R. H. (2017) · Advances in Neurodevelopmental Disorders · doi:10.1007/s41252-017-0029-1 · Cited by 13
Cerebellar-dependent delay eyeblink conditioning in adolescents with Specific Language Impairment
Steinmetz, A. B., & Rice, M. L. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9058-z · Cited by 12
Verpelli, C., Galimberti, I., Gomez‐Mancilla, B., & Sala, C. (2013) · Developmental Neurobiology · doi:10.1002/dneu.22093 · Cited by 14
Sizoo, B. B., van den Brink, W., Franke, B., Vásquez, A. A., van Wijngaarden-Cremers, P. J. M., & van der Gaag, R. J. (2010) · The World Journal of Biological Psychiatry · doi:10.3109/15622975.2010.480985 · Cited by 11
Mouse Behavior and Models for Autism Spectrum Disorders
Ricceri, L., Michetti, C., & Scattoni, M. L. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800109-7.00017-0 · Cited by 13
Genetic influences of autism candidate genes on circuit wiring and olfactory decoding
Hartig, R., Wolf, D., Schmeißer, M. J., & Kelsch, W. (2021) · Cell and Tissue Research · doi:10.1007/s00441-020-03390-8 · Cited by 11
Epigenetics, Brain and Behavior
Sassone‐Corsi, P., & Christen, Y. (2012) · Research and perspectives in neurosciences · doi:10.1007/978-3-642-27913-3 · Cited by 11
Animal Models of Autism Spectrum Disorder
Erdoğan, H. (2017) · Journal of Neurology & Stroke · doi:10.15406/jnsk.2017.06.00209 · Cited by 11
nlr-1/CNTNAP regulates dopamine circuit structure and foraging behaviors in C. elegans
Bastien, B. L., Haury, W. R., Smisko, W. R., & Hart, M. P. (2024) · Communications Biology · doi:10.1038/s42003-024-06936-6 · Cited by 13
RETRACTED: The developmental pattern of the RAS/RAF/Erk1/2 pathway in the BTBR autism mouse model
Yin, A., Qiu, Y., Jia, B., Song, T., Yu, Y., Alberts, I. L., & Zhong, M. (2014) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2014.01.006 · Cited by 9
RetractedRoss, L. A., Bene, V. A. D., Molholm, S., Woo, Y. J., Andrade, G. N., Abrahams, B. S., & Foxe, J. J. (2017) · Brain and Language · doi:10.1016/j.bandl.2017.07.005 · Cited by 10
Self-citationNewbury, D. F., Simpson, N. H., Thompson, P. A., & Bishop, D. (2018) · Wellcome Open Research · doi:10.12688/wellcomeopenres.13828.1 · Cited by 6
Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population
Kourtian, S., Soueid, J., Makhoul, N. J., Guisso, D. R., Chahrour, M. H., & Boustany, R. (2017) · Scientific Reports · doi:10.1038/srep45336 · Cited by 11
Genetic Intersections of Language and Neuropsychiatric Conditions
Koomar, T., & Michaelson, J. J. (2020) · Current Psychiatry Reports · doi:10.1007/s11920-019-1123-z · Cited by 11
Individual differences in first language acquisition and their theoretical implications
Kidd, E., Bidgood, A., Donnelly, S., Durrant, S., Peter, M., & Rowland, C. F. (2020) · Trends in language acquisition research · doi:10.1075/tilar.27.09kid · Cited by 10
Autoantibody-associated psychiatric syndromes in children: link to adult psychiatry
Hansen, N., Luedecke, D., Malchow, B., Lipp, M., Vogelgsang, J. S., Timäus, C., Zindler, T., Gingele, S., Kühn, S., Gallinat, J., et al. (2021) · Journal of Neural Transmission · doi:10.1007/s00702-021-02354-8 · Cited by 10
(2016) · Routledge eBooks · doi:10.4324/9781315709529 · Cited by 10
Immune Dysfunction in Autism Spectrum Disorder
Jonna, B., Thayne, L., Benson, M., Bray‐Ward, P., & Anthony, R. (2011) · InTech eBooks · doi:10.5772/22318 · Cited by 11
Evaluation of CNTNAP2 gene polymorphisms for exfoliation syndrome in Japanese.
Shimizu, A., Takano, Y., Shi, D., Yokokura, S., Yokoyama, Y., Zheng, X., Shiraishi, A., Ohashi, Y., Nakazawa, T., & Fuse, N. (2012) · Europe PMC (PubMed Central) · Cited by 10
Zhu, B., Chen, C., Xue, G., Lei, X., Wang, Y., Li, J., Moyzis, R. K., Li, J., Dong, Q., & Lin, C. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2016.11.021 · Cited by 10
Comorbidity and diagnosis of developmental disorders
Williams, D. M., & Lind, S. E. (2012) · Psychology Press eBooks · doi:10.4324/9780203100288-9 · Cited by 10
A mouse translocation associated with Caspr5-2 disruption and perinatal lethality
Weichenhan, D., Traut, W., Göngrich, C., Himmelbauer, H., Busch, L., Monyer, H., & Winking, H. (2008) · Mammalian Genome · doi:10.1007/s00335-008-9148-3 · Cited by 10
Geschwind, D. H. (2008) · Nature · doi:10.1038/454838a · Cited by 10
Self-citationThe role of the CNTNAP2 gene in the development of autism spectrum disorder
Валерьевна, В. Е., Sabirov, I. S., Safiullina, L. R., Олегович, Н. Д., Семина, И. И., Rees, T., Fesenko, D. O., & Ahmetov, I. I. (2024) · Research in Autism · doi:10.1016/j.rasd.2024.102409 · Cited by 9
Genetic Susceptibility in Tourette Syndrome
Fernandez, T. V., & State, M. W. (2013) · Oxford University Press eBooks · doi:10.1093/med/9780199796267.003.0007 · Cited by 8
Zebra Finches in Biomedical Research
Patterson, M. M., & Fee, M. S. (2015) · Elsevier eBooks · doi:10.1016/b978-0-12-409527-4.00023-7 · Cited by 10
Newbury, D. F., Simpson, N. H., Thompson, P. A., & Bishop, D. (2018) · Wellcome Open Research · doi:10.12688/wellcomeopenres.14677.2 · Cited by 9
Candidate gene variant effects on language disorders in Robinson Crusoe Island
Mountford, H. S., Villanueva, P., Fernández, M. A., Barbieri, Z. D., Cazier, J., & Newbury, D. F. (2019) · Annals of Human Biology · doi:10.1080/03014460.2019.1622776 · Cited by 9
Bai, T., Zhang, L., Xie, X., Xiao, G., Huang, W., Li, D., Zu, M., Wei, L., Zuo, X., Gong-Jun, J. I., et al. (2019) · Social Cognitive and Affective Neuroscience · doi:10.1093/scan/nsaa008 · Cited by 9
Gata-Garcia, A., Porat, A., Brimberg, L., Volpe, B. T., Huerta, P. T., & Diamond, B. (2021) · Frontiers in Neurology · doi:10.3389/fneur.2021.721108 · Cited by 9
Shen, J., Lincoln, S. A., & Miller, D. T. (2014) · Current Genetic Medicine Reports · doi:10.1007/s40142-014-0047-5 · Cited by 9
Persico, A. M. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-397267-5.00045-5 · Cited by 9
Klauck, S. M. (2008) · Nucleic acids and molecular biology · doi:10.1007/978-3-540-85383-1_3 · Cited by 9
Autism and Obesity: Prevalence, Molecular Basis and Potential Therapies
Kaur, Sharma, J. R., Arieff, Z., Sagar, S., & Kaur (2012) · Autism Insights · doi:10.4137/aui.s9138 · Cited by 8
Li, D., Zhang, L., Bai, T., Huang, W., Ji, G., Yang, T., Zhang, Y., Tian, Y., Qiu, B., & Wang, K. (2021) · Behavioural Brain Research · doi:10.1016/j.bbr.2021.113319 · Cited by 8
Montojo, M. T., Petit‐Pedrol, M., Graus, F., & Dalmau, J. O. (2015) · Neurología (English Edition) · doi:10.1016/j.nrleng.2013.12.015 · Cited by 8
Newbury, D. F., Simpson, N. H., Thompson, P. A., & Bishop, D. (2018) · Wellcome Open Research · doi:10.12688/wellcomeopenres.14677.1 · Cited by 7
Genetic and Environmental Factors in Autism
Güney, E., & İşeri, E. (2013) · InTech eBooks · doi:10.5772/53295 · Cited by 7
Saffen, D. W. (2015) · Science China Life Sciences · doi:10.1007/s11427-012-4336-5 · Cited by 8
CNTNAP2 Is Significantly Associated With Speech Sound Disorder in the Chinese Han Population
Zhao, Y.-J., Wang, Y., Yang, W.-Z., Sun, H.-W., Ma, H., & Zhao, Y. (2015) · Journal of Child Neurology · doi:10.1177/0883073815581609 · Cited by 8
Benítez‐Burraco, A. (2011) · Neurología · doi:10.1016/j.nrl.2011.04.008 · Cited by 8
Connecting Signaling Pathways Underlying Communication to ASD Vulnerability
Lepp, S., Anderson, A. G., & Konopka, G. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-418700-9.00004-6 · Cited by 8
Beiranvandi, F., Akouchekian, M., Javadi, G. R., & Darvish, H. (2020) · Meta Gene · doi:10.1016/j.mgene.2020.100664 · Cited by 8
Riemersma, I. W., Havekes, R., & Kas, M. J. (2021) · Genes · doi:10.3390/genes13010028 · Cited by 8
Deconstruyendo los trastornos del espectro autista: perspectiva clínica
Tuchman, R. F. (2013) · Revista de Neurología · doi:10.33588/rn.56s01.2012657 · Cited by 8
A biolinguistic approach to language disorders
Benítez‐Burraco, A. (2016) · Routledge eBooks · doi:10.4324/9781315709529-21 · Cited by 7
Evidence for parent-of-origin effects in autism spectrum disorder: a narrative review
Ryan, N., & Heron, E. A. (2023) · Journal of Applied Genetics · doi:10.1007/s13353-022-00742-8 · Cited by 8
Shiota, Y., Nishiyama, T., Yokoyama, S., Yoshimura, Y., Hasegawa, C., Tanaka, S., Iwasaki, S., & Kikuchi, M. (2024) · Frontiers in Genetics · doi:10.3389/fgene.2024.1352480 · Cited by 7
Topoisomerases interlink genetic network underlying autism
Vokálová, L., Durdiaková, J., & Ostatníková, D. (2015) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2015.07.009 · Cited by 7
HIV/AIDS: vaccines and alternate strategies for treatment and prevention
Voronin, Y., & Phogat, S. K. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05759.x · Cited by 7
Approaching motor and language deficits in autism from below: a biolinguistic perspective
Benítez‐Burraco, A., & Boeckx, C. A. (2015) · Frontiers in Integrative Neuroscience · doi:10.3389/fnint.2015.00025 · Cited by 7
Behavioural Genetics of Childhood Disorders
Freitag, C. M., Asherson, P. J., & Hebebrand, J. (2011) · Current topics in behavioral neurosciences · doi:10.1007/7854_2011_178 · Cited by 7
Lee, I., Walker, D. I., Lin, Y., Smith, M. R., Mandl, K. D., Jones, D. P., & Kong, S. W. (2023) · EBioMedicine · doi:10.1016/j.ebiom.2023.104746 · Cited by 7
Benítez‐Burraco, A. (2012) · Neurología (English Edition) · doi:10.1016/j.nrleng.2012.05.005 · Cited by 7
Genetic risk in autism: new associations and clinical testing
Freitag, C. M. (2011) · Expert Opinion on Medical Diagnostics · doi:10.1517/17530059.2011.579101 · Cited by 7
Correspondances génotype/phénotype et l’autisme : modèles et stratégies
Bonnet‐Brilhault, F. (2010) · L Encéphale · doi:10.1016/j.encep.2010.02.009 · Cited by 8
Unravelling the genetics of autism spectrum disorders
Sousa, I., Holt, R., Pagnamenta, A. T., & Monaco, A. P. (2011) · Cambridge University Press eBooks · doi:10.1017/cbo9780511973918.005 · Cited by 7
Lahvis, G. P. (2017) · The EPMA Journal · doi:10.1007/s13167-017-0118-2 · Cited by 7
Genetics of language and its implications on language interventions
Sriganesh, R., & Ponniah, R. J. (2018) · Journal of Genetics · doi:10.1007/s12041-018-1006-9 · Cited by 7
Nitric oxide signaling in the development and evolution of language and cognitive circuits
Funk, O. H., & Kwan, K. Y. (2014) · Neuroscience Research · doi:10.1016/j.neures.2014.06.001 · Cited by 7
Language disorders through the lens of biolinguisticsPreprint
Benítez‐Burraco, A. (2023) · doi:10.31234/osf.io/7uk4a · Cited by 7
Genetic, Environmental, and Epigenetic Influences on Behavior
Beauchaine, T. P., Gatzke‐Kopp, L. M., & Gizer, I. R. (2017) · Wiley eBooks · doi:10.1002/9781394258932.ch3 · Cited by 8
The erosion of phenotypic specificity in psychiatric genetics: emerging lessons from CNTNAP2
State, M. W. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.03.021 · Cited by 6
Xu, S., Neupane, S., Wang, H., Pham, T. P., Snyman, M., Huynh, T. V., & Wang, L. (2025) · Heredity · doi:10.1038/s41437-025-00750-4 · Cited by 6
Zheng, S., & Chen, C. (2025) · Journal of Neural Transmission · doi:10.1007/s00702-025-02919-x · Cited by 6
Mann, R. S., Allman, B. L., & Schmid, S. (2023) · Journal of Neurophysiology · doi:10.1152/jn.00029.2022 · Cited by 6
Maroon, M., Haddad, F. L., Doornaert, E. E., Allman, B. L., & Schmid, S. (2024) · PLoS ONE · doi:10.1371/journal.pone.0299380 · Cited by 6
Zheng, A., Mann, R. S., Solaja, D., Allman, B. L., & Schmid, S. (2024) · Journal of Integrative Neuroscience · doi:10.31083/j.jin2303063 · Cited by 6
Evans, P. D., Mueller, K., Gamazon, E. R., Cox, N. J., & Tomblin, J. B. (2015) · Genes Brain & Behavior · doi:10.1111/gbb.12223 · Cited by 6
Metadata
- Authors
- Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., Nelson, S. F., Cantor, R. M., & Geschwind, D. H.
- Affiliations
- University of California, Los Angeles (US)
- Cold Spring Harbor Laboratory (US)
- Emory University (US)
- Corresponding author
- Geschwind, Daniel H.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2008-01
- Volume
- 82
- Issue
- 1
- Pages
- 150-159
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC2253955
- OpenAlex
- W2126538155
- Cited by
- 818
- References
- 67
- Citations by year
- 2026: 15 · 2025: 12 · 2024: 19 · 2023: 19 · 2022: 26 · 2021: 35 · 2020: 29 · 2019: 28 · 2018: 28 · 2017: 52 · 2016: 43 · 2015: 53 · 2014: 48 · 2013: 69 · 2012: 82
- FWCI
- 44.76
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Funders
- National Institute of Mental Health (R01MH64547, R01MH064547, R01MH076431)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- CNTNAP2, autism susceptibility, language development, neurexin, genetic linkage, genetic association, trios, brain gene expression, neurodevelopmental disorders
- MeSH terms
- Autistic Disorder, Brain, Child, Chromosomes, Human, Pair 7, Female, Humans, Language Development, Male, Membrane Proteins, Nerve Tissue Proteins, Gene Expression, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review