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Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers
Open accessAbstract
Autistic disorder is a complex genetic disease. Because of previous reports of individuals with autistic disorder with duplications of the Prader-Willi/Angelman syndrome critical region, we screened several markers across the 15q11-13 region, for linkage disequilibrium. One hundred forty families, consisting predominantly of a child with autistic disorder and both parents, were studied. Genotyping was performed by use of multiplex PCR and capillary electrophoresis. Two children were identified who had interstitial chromosome 15 duplications and were excluded from further linkage-disequilibrium analysis. Use of the multiallelic transmission-disequilibrium test (MTDT), for nine loci on 15q11-13, revealed linkage disequilibrium between autistic disorder and a marker in the gamma-aminobutyric acidA receptor subunit gene, GABRB3 155CA-2 (MTDT 28.63, 10 df, P=.0014). No evidence was found for parent-of-origin effects on allelic transmission. The convergence of GABRB3 as a positional and functional candidate along with the linkage-disequilibrium data suggests the need for further investigation of the role of GABRB3 or adjacent genes in autistic disorder.
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“The behavioral phenotypes associated with 15q11–q13 defects show a parent-of-origin specific effect on phenotypic expression.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [189]
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“More specifically, it is the maternally derived duplications that convey a high risk of autism (189–191).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [189]
Citations
Cites
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
Self-citationSpielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679
Autism as a strongly genetic disorder: evidence from a British twin study
Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., & Rutter, M. (1995) · Psychological Medicine · doi:10.1017/s0033291700028099 · Cited by 2,461
Lord, C., Rutter, M., Goode, S., Heemsbergen, J., Jordan, H., Mawhood, L., & Schopler, E. (1989) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02211841 · Cited by 2,030
Self-citationWisden, W., Laurie, D. J., Monyer, H., & Seeburg, P. (1992) · Journal of Neuroscience · doi:10.1523/jneurosci.12-03-01040.1992 · Cited by 1,543
INFANTILE AUTISM: A GENETIC STUDY OF 21 TWIN PAIRS
Folstein, S., & Rutter, M. (1977) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1977.tb00443.x · Cited by 1,361 · cited 1×
“Autistic disorder is a complex genetic disease with evidence of high MZ twin concordance, relative to DZ twin concordance (Folstein and Rutter 1977; Ritvo et al. Received December 8, 1997; accepted for publication February 18, 1998; electronically published April 17, 1998.”
BackgroundUBE3A/E6-AP mutations cause Angelman syndrome
Kishino, T., Lalande, M., & Wagstaff, J. E. (1997) · Nature Genetics · doi:10.1038/ng0197-70 · Cited by 1,304
Laurie, D., Wisden, W., & Seeburg, P. (1992) · Journal of Neuroscience · doi:10.1523/jneurosci.12-11-04151.1992 · Cited by 1,144
The TDT and other family-based tests for linkage disequilibrium and association.
(1996) · PubMed Central · Cited by 901
A Twin Study of Autism in Denmark, Finland, Iceland, Norway and Sweden
Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., & Bohman, M. (1989) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1989.tb00254.x · Cited by 780
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- Pericak-Vance, 1997, Linkage evidence supports the involvement of chromosome 15 in autistic disorder (AUT), Am J Hum Genet, A40
Cited by
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Items 201–300 of 368
Flores, C. G., Valcante, G., Guter, S., Zaytoun, A., Wray, E., Bell, L., Jacob, S., Lewis, M. H., Driscoll, D. J., Cook, E. H., et al. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9094-3 · Cited by 30
Genomics and Autism Spectrum Disorder
Johnson, N. L., Giarelli, E., Lewis, C., & Rice, C. E. (2013) · Journal of Nursing Scholarship · doi:10.1111/j.1547-5069.2012.01483.x · Cited by 32
Is There A Connection Between Autism, Prader‐Willi Syndrome, Catatonia, And GABA?
Dhossche, D. M., Song, Y., & Liu, Y. (2005) · International review of neurobiology · doi:10.1016/s0074-7742(05)71009-6 · Cited by 30
Kwasnicka, D. A., Roberts, W., & Scherer, S. W. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0225-8 · Cited by 30
Transmission disequilibrium testing of the chromosome 15q11‐q13 region in autism
Kim, S., Brune, C. W., Kistner, E. O., Christian, S. L., Courchesne, E., Cox, N. J., & Cook, E. H. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30733 · Cited by 30
Self-citationKim, Y.-S., Harry, G. J., Kang, H. S., Goulding, D., Wine, R. N., Kissling, G. E., Liao, G., & Jetten, A. M. (2010) · The Cerebellum · doi:10.1007/s12311-010-0163-z · Cited by 29
Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation
Nomura, J., & Takumi, T. (2012) · Neural Plasticity · doi:10.1155/2012/589524 · Cited by 29
Guffanti, G., Lievers, L. S., Bonati, M. T., Marchi, M., Geronazzo‐Alman, L., Nardocci, N., Estienne, M., Larizza, L., Macciardi, F. M., & Russo, S. (2010) · Psychiatry Research · doi:10.1016/j.psychres.2010.04.057 · Cited by 30
Thompson, R. J., & Bolton, P. (2003) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1022991410822 · Cited by 29
Keller, K. L., Williams, C. A., Wharton, P. W., Paulk, M. F., Bent‐Williams, A., Gray, B. A., Ward, A., Stalker, H., Wallace, M. R., Carter, R. L., et al. (2002) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.10042 · Cited by 29
Proteomic Approach for the Elucidation of Biological Defects in Autism
Junaid, M. A., & Pullarkat, R. K. (2001) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1013242910574 · Cited by 29
Catatonia in Psychiatric Illnesses
Dhossche, D. M., Wachtel, L. E., Goetz, M., & Sienaert, P. A. (2016) · Springer eBooks · doi:10.1007/978-1-4939-2528-5_27 · Cited by 27
Positron Emission Tomography in the Neuroimaging of Autism Spectrum Disorder: A Review
Tan, Z., Wei, H., Song, X., Mai, W., Yan, J., Ye, W., Ling, X., Hou, L., Zhang, S., Yan, S., et al. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.806876 · Cited by 26
Hashemi, E., Sahbaie, P., Davies, M. F., Clark, J. D., & DeLorey, T. M. (2006) · Brain Research · doi:10.1016/j.brainres.2006.10.050 · Cited by 27
Molecular genetics of autism spectrum disorders
Shastry, B. S. (2003) · Journal of Human Genetics · doi:10.1007/s10038-003-0064-9 · Cited by 27
X11-Like Protein Deficiency Is Associated with Impaired Conflict Resolution in Mice
Sano, Y., Ornthanalai, V. G., Yamada, K., Homma, C., Suzuki, H., Suzuki, T., Murphy, N. P., & Itohara, S. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.5756-08.2009 · Cited by 27
Catatonia: a critical review and therapeutic recommendations
Bartolommei, N., Lattanzi, L., Callari, A., Cosentino, L., Luchini, F., & Mauri, M. F. (2012) · Giornale italiano di psicopatologia/Journal of psychopathology/Italian journal of psychopathology · Cited by 24
Yang, S., Guo, X., Dong, X., Han, Y., Gao, L., Su, Y., Dai, W., & Zhang, X. (2017) · Scientific Reports · doi:10.1038/s41598-017-03666-0 · Cited by 26
Cole‐Hughes macrocephaly syndrome and associated autistic manifestations
Naqvi, S., Cole, T. R. P., & Graham, J. M. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20000911)94:2 · Cited by 26
Case Report: High Functioning Autism and Childhood Disintegrative Disorder in Half Brothers
Zwaigenbaum, L., Szatmári, P., Mahoney, W., Bryson, S., Bartolucci, G., & MacLean, J. E. (2000) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1005455505211 · Cited by 27
No association between allelic variants of HOXA1/HOXB1 and autism
Gallagher, L., Hawi, Z., Kearney, G., Fitzgerald, M., & Gill, M. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20094 · Cited by 26
Identifying Essential Cell Types and Circuits in Autism Spectrum Disorders
Maloney, S. E., Rieger, M. A., & Dougherty, J. D. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-418700-9.00003-4 · Cited by 26
Jiao, Y., Chen, R., Ke, X., Cheng, L., Chu, K., Lu, Z., & Herskovits, E. H. (2011) · Advances in Medical Sciences · doi:10.2478/v10039-011-0042-y · Cited by 25
Autistic Disorder and Chromosome 15q11–q13: Construction and Analysis of a BAC/PAC Contig
Maddox, L. O., Menold, M. M., Bass, M. P., Rogala, A. R., Pericak‐Vance, M. A., Vance, J. M., & Gilbert, J. R. (1999) · Genomics · doi:10.1006/geno.1999.6017 · Cited by 24
Papadimitriou, G. N., Dikeos, D. G., Karadima, G., Avramopoulos, D., Daskalopoulou, E. G., & Stefanis, C. N. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1354 · Cited by 24
Determining Genetic Component of a Disease
Ashley‐Koch, A. E. (2005) · doi:10.1002/9780471781141.ch3 · Cited by 24
Autism risk assessment in siblings of affected children using sex-specific genetic scores
Carayol, J., Schellenberg, G. D., Dombroski, B. A., Génin, E., Rousseau, F., & Dawson, G. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-17 · Cited by 24
A Brain Region-Specific Predictive Gene Map for Autism Derived by Profiling a Reference Gene Set
Kumar, A., Swanwick, C. C., Johnson, N., Menashe, I., Basu, S. N., Bales, M. E., & Banerjee‐Basu, S. (2011) · PLoS ONE · doi:10.1371/journal.pone.0028431 · Cited by 23
Association study of the 15q11‐q13 maternal expression domain in Japanese autistic patients
Kato, C., Tochigi, M., Ohashi, J., Koishi, S., Kawakubo, Y., Yamamoto, K., Matsumoto, H., Hashimoto, O., Kim, S.-Y., Watanabe, K., et al. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30690 · Cited by 23
Silva, A. E., Vayego, S. A., Fett‐Conte, A. C., Goloni‐Bertollo, E. M., & Varella‐Garcia, M. (2002) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x2002000200021 · Cited by 22
Genetische und hirnstrukturelle Anomalien bei Autismus-Spektrum-Störungen
Nickl‐Jockschat, T., & Michel, T. M. (2010) · Der Nervenarzt · doi:10.1007/s00115-010-2989-5 · Cited by 21
Triggers for Autism: Genetic and Environmental Factors
Matsuzaki, H., Iwata, K., Manabe, T., & Mori, N. (2012) · Journal of Central Nervous System Disease · doi:10.4137/jcnsd.s9058 · Cited by 23
GABAergic dysfunction in pediatric neuro-developmental disorders
Smith‐Hicks, C. L. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00269 · Cited by 21
Rett Syndrome: A Rosetta Stone for Understanding the Molecular Pathogenesis of Autism
LaSalle, J. M., Hogart, A., & Thatcher, K. N. (2005) · International review of neurobiology · doi:10.1016/s0074-7742(05)71006-0 · Cited by 21
Carvalheira, G. M. G., Vergani, N., & Brunoni, D. (2004) · Brazilian Journal of Psychiatry · doi:10.1590/s1516-44462004000400012 · Cited by 20
First, M. B., & Regier, D. A. (2002) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9780890427644 · Cited by 19
Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder
Noroozi, R., Taheri, M. N., Ghafouri‐Fard, S., Bidel, Z., Omrani, M. D., Moghaddam, A. S., Sarabi, P., & Jarahi, A. M. (2018) · Journal of Molecular Neuroscience · doi:10.1007/s12031-018-1114-2 · Cited by 19
Tochigi, M., Kato, C., Koishi, S., Kawakubo, Y., Yamamoto, K., Matsumoto, H., Hashimoto, O., Kim, S.-Y., Watanabe, K., Kano, Y., et al. (2007) · Journal of Human Genetics · doi:10.1007/s10038-007-0207-5 · Cited by 20
An association analysis of candidate genes on chromosome 15 q11–13 and autism spectrum disorder
Curran, S. R., Powell, J. F., Neale, B. M., Dworzynski, K., Li, T., Murphy, D., & Bolton, P. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001839 · Cited by 19
New Perspectives on Rodent Models of Advanced Paternal Age: Relevance to Autism
Foldi, C. J., Eyles, D. W., Flatscher‐Bader, T., McGrath, J. J., & Burne, T. H. J. (2011) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2011.00032 · Cited by 20
Letting a Typical Mouse Judge Whether Mouse Social Interactions Are Atypical
Shah, C. R., Forsberg, C. G., Kang, J., & Veenstra-VanderWeele, J. M. (2013) · Autism Research · doi:10.1002/aur.1280 · Cited by 18
Chapter 1. Basic Nomenclature Issues for DSM-V
Rounsaville, B. J., Alarcón, R. D., Andrews, G., Jackson, J. S., Kendell, R. E., & Kendler, K. S. (2002) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9780890427644.lg01 · Cited by 18
Yoo, H. K., Chung, S., Hong, J. P., Kim, B., & Cho, S. C. (2009) · Yonsei Medical Journal · doi:10.3349/ymj.2009.50.2.304 · Cited by 17
Müller, R., & Courchesne, E. (2000) · Cambridge University Press eBooks · doi:10.1017/cbo9780511470998.027 · Cited by 17
Self-citationThe yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders
Battaglia, A., & Bonaglia, M. C. (2006) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30077 · Cited by 17
An in-frame deletion in the α2C adrenergic receptor is common in African–Americans
Feng, J., Zheng, J., Gelernter, J. E., Kranzler, H. R., Cook, E. H., Goldman, D. A., Jones, I. R., Craddock, N. J., Heston, L. L., DeLisi, L. E., et al. (2001) · Molecular Psychiatry · doi:10.1038/sj.mp.4000817 · Cited by 17
Self-citationJacob, N., Rüschendorf, F., Schmitt‐Egenolf, M., Hennies, H.-C., Friedl, G., Ständer, M., Wienker, T. F., Reis, A., & Traupe, H. (1999) · Journal of Investigative Dermatology · doi:10.1046/j.1523-1747.1999.00541.x · Cited by 17
Leader, G., Forde, J., Naughton, K., Maher, L., Arndt, S., & Mannion, A. (2021) · Journal of Intellectual Disability Research · doi:10.1111/jir.12789 · Cited by 16
Convergent synaptic and circuit substrates underlying autism genetic risks
McGee, A. W., Li, G., Lu, Z., & Qiu, S. (2014) · Frontiers in Biology · doi:10.1007/s11515-014-1298-y · Cited by 17
Sesarini, C. V., Costa, L. D., Naymark, M., Grañana, N. E., Cajal, A. R., Coto, M. A. G., Pallia, R. C., & Argibay, P. F. (2013) · Autism Research · doi:10.1002/aur.1353 · Cited by 16
Bonora, E., Monaco, A. P., Lamb, J. A., Bailey, A. J., & Barnby, G. (2006) · CRC Press eBooks · doi:10.1201/9781420004205.ch3 · Cited by 16
Adak, P., Sinha, S., & Banerjee, N. (2021) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04865-x · Cited by 16
The role of candidate genes in unraveling the genetics of autism
Stodgell, C., Ingram, J. L., & Hyman, S. L. (2000) · International review of research in mental retardation · doi:10.1016/s0074-7750(00)80006-3 · Cited by 16
Huang, H., Cheung, I. K., & Akbarian, S. (2010) · Autism Research · doi:10.1002/aur.141 · Cited by 12
Chapter 3. Advances in Developmental Science and DSM-V
Pine, D. S., Alegria, M. M., Cook, E. H., Costello, E. J., Dahl, R. E., Koretz, D. S., Merikangas, K. R., Reiss, A. L., & Vitiello, B. (2002) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9780890427644.lg03 · Cited by 14
Self-citationInvestigation of two variants in the DOPA decarboxylase gene in patients with autism
Lauritsen, M. B., Børglum, A. D., Betancur, C., Philippe, A., Kruse, T. A., Leboyer, M., & Ewald, H. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10379 · Cited by 15
A critical review of the impact of candidate copy number variants on autism spectrum disorder
Abedini, S. S., Akhavantabasi, S., Liang, Y., Heng, J. I., Alizadehsani, R., Dehzangi, A., Bauer, D. C., & Alinejad‐Rokny, H. (2024) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2024.108509 · Cited by 18
Late‐onset Lennox‐Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
Rocha, J., Guerra, C. S. P. S., de Oliveira, R. L., Dória, S., Rego, R., & Rosas, M. J. (2012) · Epileptic Disorders · doi:10.1684/epd.2012.0502 · Cited by 13
Borgatti, R., Piccinelli, P., Passoni, D., Raggi, M. E., & Ferrarese, C. (2001) · Journal of Child Neurology · doi:10.1177/088307380101601209 · Cited by 13
The Genetic Control of Stoichiometry Underlying Autism
Darnell, R. B. (2020) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-100119-024851 · Cited by 12
The pathophysiology and treatment of autism
Posey, D. J., & McDougle, C. J. (2001) · Current Psychiatry Reports · doi:10.1007/s11920-001-0006-1 · Cited by 12
Jin, F., & Wang, Z. (2024) · Frontiers in Neuroscience · doi:10.3389/fnins.2024.1514678 · Cited by 12
Brain and plasma amino acid concentration in infant rats prenatally exposed to valproic acid
Puig-Lagunes, Á. A., Rocha, L., Morgado‐Valle, C., Beltrán‐Parrazal, L., & López‐Meraz, M. L. (2021) · Anais da Academia Brasileira de Ciências · doi:10.1590/0001-3765202120190861 · Cited by 13
Catatonia in Psychiatric Illnesses
Dhossche, D. M., & Wachtel, L. E. (2008) · Humana Press eBooks · doi:10.1007/978-1-59745-252-6_27 · Cited by 10
Chapter 5. Mental Disorders and Disability: Time to Reevaluate the Relationship?
Lehman, A. F., Alexopoulos, G. S., Goldman, H. B., Jeste, D. V., & Üstün, B. (2002) · American Psychiatric Association Publishing eBooks · doi:10.1176/appi.books.9780890427644.lg05 · Cited by 10
Common Genetic Variants in Autism Spectrum Disorders
Anney, R. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00010-7 · Cited by 9
GABA Receptor SNPs and Elevated Plasma GABA Levels Affect the Severity of the Indian ASD Probands
Saha, S., Chatterjee, M., Dutta, N., Sinha, S., & Mukhopadhyay, K. (2022) · Journal of Molecular Neuroscience · doi:10.1007/s12031-022-02023-9 · Cited by 9
Genetic variation of UBE3A is associated with schizotypy in a population of typical individuals
Salminen, I., Read, S., Hurd, P. L., & Crespi, B. J. (2019) · Psychiatry Research · doi:10.1016/j.psychres.2019.03.019 · Cited by 9
A family‐based study of the Cys23Ser 5HT2C serotonin receptor polymorphism in schizophrenia
Murad, I., Kremer, I., Dobrusin, M., Muhaheed, M., Bannoura, I., Müller, D., Schulze, T. G., Reshef, A., Blanaru, M., Gathas, S., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1260 · 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
Shared Chromosomal Susceptibility Regions Between Autism and Other Mental Disorders
Chagnon, Y. C. (2005) · International review of neurobiology · doi:10.1016/s0074-7742(05)71017-5 · Cited by 9
Wong, K. (2001) · Nature · doi:10.1038/35082228 · Cited by 9
Genetic and Environmental Factors in Autism
Güney, E., & İşeri, E. (2013) · InTech eBooks · doi:10.5772/53295 · 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
GABAergic neurotransmission alterations in autism spectrum disorders
Sesarini, C. V. (2015) · Neurotransmitter · doi:10.14800/nt.1052 · Cited by 8
Wegiel, J., Brown, W. T., Fauci, G. L., Adayev, T., Kascsak, R. J., Kascsak, R., Flory, M. J., Kaczmarski, W., Kuchna, I., Nowicki, K., et al. (2018) · Autism Research · doi:10.1002/aur.2003 · Cited by 7
IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies
Germain, N. D., Levine, E. S., & Chamberlain, S. J. (2020) · Advances in neurobiology · doi:10.1007/978-3-030-45493-7_3 · Cited by 7
Mutation screening of the UBE3A gene in Chinese Han population with autism
Zhao, X., Zhang, R., & Yu, S. (2020) · BMC Psychiatry · doi:10.1186/s12888-020-03000-5 · Cited by 7
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
Chen, J., Chang, C., Li, L., Lee, W., Lin, C., Li, S., Moi, S., & Yang, C.-H. (2020) · Cells · doi:10.3390/cells9102303 · Cited by 7
Feng, J., Craddock, N. J., Jones, I. R., Cook, E. H., Goldman, D. A., Heston, L. L., Peltonen, L., DeLisi, L. E., & Sommer, S. S. (2001) · Psychiatric Genetics · doi:10.1097/00041444-200103000-00009 · Cited by 7
Self-citationPeripheral Markers of the γ-Aminobutyric Acid (GABA)ergic System in Angelman's Syndrome
Borgatti, R., Piccinelli, P., Passoni, D., Romeo, A., Viri, M., Musumeci, S. A., Elia, M., Cogliati, T., Valseriati, D., Grasso, R., et al. (2003) · Journal of Child Neurology · doi:10.1177/08830738030180010801 · Cited by 7
Smith, S. D., & Morris, C. A. (2005) · Applied Psycholinguistics · doi:10.1017/s0142716405050083 · Cited by 7
[Autism, chromosome 15 and the GAbaergic dysfunction hypothesis].
Solís-Áñez, E., Delgado-Luengo, W., & Hernández, M. L. (2007) · PubMed · Cited by 6
Johnson, C. P., & Myers, S. M. (2008) · Elsevier eBooks · doi:10.1016/b978-0-323-04025-9.50018-0 · Cited by 6
Kakooza‐Mwesige, A., Stoppelbein, L., & Dhossche, D. M. (2007) · Cambridge University Press eBooks · doi:10.1017/cbo9780511543784.013 · Cited by 6
Human Disorders Caused by the Disruption of the Regulation of Excitatory Neurotransmission
Steinlein, O. K. (2007) · Springer eBooks · doi:10.1007/400_2007_034 · Cited by 6
GABA and Glutamate Receptors of the Autistic Brain
Limón, A., Jorge, M., & Miledi, R. (2011) · InTech eBooks · doi:10.5772/20304 · Cited by 5
Walker, M. A. (2008) · Expert Opinion on Therapeutic Targets · doi:10.1517/14728222.12.8.949 · Cited by 6
Autism and epistemology IV: Does autism need a theory of mind?
Fisch, G. S. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36135 · Cited by 5
Evans, B. (2017) · Manchester University Press eBooks · doi:10.26530/oapen_625488 · Cited by 35
Advances and Challenges in the Genetics of Autism
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Metadata
- Authors
- Cook, E. H., Courchesne, R. Y., Cox, N. J., Lord, C., Gonen, D., Guter, S. J., Lincoln, A., Nix, K., Haas, R., Leventhal, B. L., & Courchesne, E.
- Affiliations
- University of Chicago (US)
- University of California San Diego (US)
- Corresponding author
- Cook, Edwin H.
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1998-05
- Volume
- 62
- Issue
- 5
- Pages
- 1077-1083
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1377089
- OpenAlex
- W2159457615
- Cited by
- 369
- References
- 61
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 6 · 2021: 6 · 2020: 10 · 2019: 3 · 2018: 7 · 2017: 6 · 2016: 6 · 2015: 4 · 2014: 10 · 2013: 19 · 2012: 16
- FWCI
- 14.08
- 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)
- Funders
- National Institutes of Health (5k02mh001389-03, 5r01mh052223-05)
- National Institute of Mental Health (K05 MH01196, R01 MH52223, K05MH001196, 5 K02 MH01389)
- 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
- autistic disorder, linkage disequilibrium, 15q11-13, GABRB3, GABAA receptor subunits, transmission disequilibrium test, parent-of-origin effects, candidate genes
- MeSH terms
- Autistic Disorder, Child, Chromosome Mapping, Chromosomes, Human, Pair 15, Female, Genetic Markers, Humans, Male, Linkage Disequilibrium
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