The DOI matches its Crossref record; 60 of the 61 references it cites were found in a registry or an index.
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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
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?
In the citing paper
“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]
In the citing paper
“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
Flagged first, then by citations
1 of the 61 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Pericak-Vance, 1997, Linkage evidence supports the involvement of chromosome 15 in autistic disorder (AUT), Am J Hum Genet, A40
Cited by
Sorted by citations
Identification and Evaluation of Children With Autism Spectrum Disorders
Johnson, C. P., Myers, S. M., & and the Council on Children With Disabilities (2007) · Pediatrics · doi:10.1542/peds.2007-2361 · Cited by 2,011
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207
The Screening and Diagnosis of Autistic Spectrum Disorders
Filipek, P. A., Accardo, P., Baranek, G. T., Cook, E. H., Dawson, G., Gordon, B., Gravel, J. S., Johnson, C. P., Kallen, R. J., Levy, S. E., et al. (1999) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1021943802493 · Cited by 1,016
Self-citationAutism and the pervasive developmental disorders
Volkmar, F. R., & Klin, A. (2012) · doi:10.1093/med/9780199696758.003.0214 · Cited by 931
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797
Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024646 · Cited by 778
Genetics of austim: complex aetiology for a heterogeneous disorder
Folstein, S. E., & Rosen-Sheidley, B. (2001) · Nature Reviews Genetics · doi:10.1038/35103559 · Cited by 771
The genetics of autistic disorders and its clinical relevance: a review of the literature
Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638
Autism and pervasive developmental disorders
Volkmar, F. R., Lord, C., Bailey, A., Schultz, R. T., & Klin, A. (2004) · Journal of Child Psychology and Psychiatry · doi:10.1046/j.0021-9630.2003.00317.x · Cited by 616
Self-citationFerguson, B. R., & Gao, W.-J. (2018) · Frontiers in Neural Circuits · doi:10.3389/fncir.2018.00037 · Cited by 594
Genomic and epigenetic evidence for oxytocin receptor deficiency in autism
Gregory, S. G., Connelly, J. J., Towers, A. J., Johnson, J., Biscocho, D., Markunas, C. A., Lintas, C., Abramson, R. K., Wright, H. H., Ellis, P., et al. (2009) · BMC Medicine · doi:10.1186/1741-7015-7-62 · Cited by 576
Neuropathological findings in autism
Palmen, S. J. M. C. (2004) · Brain · doi:10.1093/brain/awh287 · Cited by 527
Genome-Wide Scan for Autism Susceptibility Genes
Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.805 · Cited by 471
A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p
(2001) · The American Journal of Human Genetics · doi:10.1086/323264 · Cited by 453
GABA system dysfunction in autism and related disorders: From synapse to symptoms
Coghlan, S., Horder, J., Inkster, B., Méndez, M. A., Murphy, D., & Nutt, D. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2012.07.005 · Cited by 459
Sex differences in oxytocin and vasopressin: Implications for autism spectrum disorders?
CARTER, C. (2007) · Behavioural Brain Research · doi:10.1016/j.bbr.2006.08.025 · Cited by 432
Samaco, R. C., Hogart, A., & LaSalle, J. M. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi045 · Cited by 425
Neurochemistry in the pathophysiology of autism.
McDougle, C. J., Erickson, C. A., Stigler, K. A., & Posey, D. J. (2005) · PubMed · Cited by 408
Fine Mapping of Autistic Disorder to Chromosome 15q11-q13 by Use of Phenotypic Subtypes
Shao, Y., Cuccaro, M. L., Hauser, E. R., Raiford, K. L., Menold, M. M., Wolpert, C. M., Ravan, S. A., Elston, L. A., Decena, K., Donnelly, S. L., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/367846 · Cited by 391
Yasui, D. H., Peddada, S., Bieda, M. C., Vallero, R. O., Hogart, A., Nagarajan, R. P., Thatcher, K. N., Farnham, P., & LaSalle, J. M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707442104 · Cited by 388
Ma, D. Q., Whitehead, P. L., Menold, M. M., Martin, E. R., Ashley‐Koch, A. E., Mei, H., Ritchie, M. D., DeLong, G. R., Abramson, R. K., Wright, H. H., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/433195 · Cited by 365
Vorstman, J. A. S., Staal, W. G., van Daalen, E., van Engeland, H., Hochstenbach, P. F. R., & Franke, L. (2006) · Molecular Psychiatry · doi:10.1038/sj.mp.4001757 · Cited by 353
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Hogart, A., Wu, D., LaSalle, J. M., & Schanen, N. C. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.08.011 · Cited by 361
Epigenetics of autism spectrum disorders
Schanen, N. C. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl213 · Cited by 341
Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic DisordersPreprint
Ji, Y., Eichler, E. E., Schwartz, S., & Nicholls, R. D. (2000) · Genome Research · doi:10.1101/gr.10.5.597 · Cited by 327
Shumyatsky, G. P., Tsvetkov, E., Malleret, G., Vronskaya, S., Hatton, M., Hampton, L. L., Battey, J. F., Dulac, C. G., Kandel, E. R., & Bolshakov, V. Y. (2002) · Cell · doi:10.1016/s0092-8674(02)01116-9 · Cited by 326
Blatt, G. J., Fitzgerald, C. M., Guptill, J. T., Booker, A. B., Kemper, T. L., & Bauman, M. L. (2001) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1013238809666 · Cited by 322
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
Yan, J., Oliveira, G., Coutinho, A. P., Yang, C., Feng, J., Katz, C., Sram, J. P., Bockholt, A., Jones, I. R., Craddock, N. J., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001629 · Cited by 328
Self-citationAssociation between a GABRB3 polymorphism and autism
Buxbaum, J. D., Silverman, J. M., Smith, C. J. W., Greenberg, D. A., Kilifarski, M., Reichert, J. G., Cook, E. H., Fang, Y., Song, C.-Y., & Vitale, R. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001011 · Cited by 322
Self-citationAlterations of GABAergic Signaling in Autism Spectrum Disorders
Pizzarelli, R., & Cherubini, E. (2011) · Neural Plasticity · doi:10.1155/2011/297153 · Cited by 338
GABAergic Signaling as Therapeutic Target for Autism Spectrum Disorders
Cellot, G., & Cherubini, E. (2014) · Frontiers in Pediatrics · doi:10.3389/fped.2014.00070 · Cited by 323
Genetic Studies of Autism: From the 1970s into the Millennium
Rutter, M. L. (2000) · Research on Child and Adolescent Psychopathology · doi:10.1023/a:1005113900068 · Cited by 299
Williams syndrome: From genotype through to the cognitive phenotype
Donnai, D., & Karmiloff‐Smith, A. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(200022)97:2 · Cited by 314
Volkmar, F. R., & Pauls, D. L. (2003) · The Lancet · doi:10.1016/s0140-6736(03)14471-6 · Cited by 316
Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms
Tordjman, S., Somogyi, E., Coulon, N., Kermarrec, S., Cohen, D., Bronsard, G., Bonnot, O., Weismann-Arcache, C., Botbol, M., Lauth, B., et al. (2014) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2014.00053 · Cited by 283
High frequency of neurexin 1β signal peptide structural variants in patients with autism
Feng, J., Schroer, R. J., Jin, Y., Song, W., Yang, C., Bockholt, A., Cook, E. H., Skinner, C. D., Schwartz, C. E., & Sommer, S. S. (2006) · Neuroscience Letters · doi:10.1016/j.neulet.2006.08.017 · Cited by 285
Self-citationAUTISM AS A PARADIGMATIC COMPLEX GENETIC DISORDER
Veenstra-VanderWeele, J. M., Christian, S. L., & Cook, E. H. (2004) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.5.061903.180050 · Cited by 282
Self-citationKim, S.-J., Young, L. J., Gonen, D., Veenstra-VanderWeele, J., Courchesne, R., Courchesne, E., Lord, C., Leventhal, B. L., Cook Jr, E. H., & Insel, T. R. (2002) · Molecular Psychiatry · doi:10.1038/sj.mp.4001125 · Cited by 265
Self-citationCurrent Enlightenment About Etiology and Pharmacological Treatment of Autism Spectrum Disorder
Eissa, N., Al‐Houqani, M., Sadeq, A. S., Ojha, S. K., Sasse, A., & Sadek, B. S. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00304 · Cited by 276
Genomic screen and follow‐up analysis for autistic disorder
Shao, Y., Wolpert, C. M., Raiford, K. L., Menold, M. M., Donnelly, S. L., Ravan, S. A., Bass, M. P., McClain, C., von Wendt, L., Vance, J. M., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.10153 · Cited by 252
The Pediatrician's Role in the Diagnosis and Management of Autistic Spectrum Disorder in Children
(2001) · PEDIATRICS · doi:10.1542/peds.107.5.1221 · Cited by 247
Harada, M., Taki, M. M., Nose, A., Kubo, H., Mori, K., Nishitani, H., & Matsuda, T. (2011) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-010-1065-0 · Cited by 231
The pathophysiology of restricted repetitive behavior
Lewis, M. H., & Kim, S. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9019-6 · Cited by 246
Autism Spectrum Disorders and Epigenetics
Grafodatskaya, D., Chung, B., Szatmari, P., & Weksberg, R. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1016/j.jaac.2010.05.005 · Cited by 235
Neuroanatomical substrates of social cognition dysfunction in autism
Pelphrey, K. A., Adolphs, R., & Morris, J. P. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20040 · Cited by 242
The inv dup (15) or idic (15) syndrome (Tetrasomy 15q)
Battaglia, A. (2008) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-3-30 · Cited by 227
DeLorey, T. M., Sahbaie, P., Hashemi, E., Homanics, G. E., & Clark, J. D. (2007) · Behavioural Brain Research · doi:10.1016/j.bbr.2007.09.009 · Cited by 225
Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder
Reddy, K. S. (2005) · BMC Medical Genetics · doi:10.1186/1471-2350-6-3 · Cited by 222
Genetic Advances in the Study of Speech and Language Disorders
Newbury, D. F., & Monaco, A. P. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.001 · Cited by 231
Association of the homeobox transcription factor, ENGRAILED 2, 3, with autism spectrum disorder
Gharani, N., Benayed, R., Mancuso, V., Brzustowicz, L. M., & Millonig, J. H. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001498 · Cited by 216
Molecular genetics of autism spectrum disorder
Veenstra-VanderWeele, J. M., & Cook, E. H. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001505 · Cited by 224
Self-citationBauman, M. L. (2006) · Johns Hopkins University Press eBooks · doi:10.1353/book.3225 · Cited by 215
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses
Won, H., Mah, W., & Kim, E. (2013) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2013.00019 · Cited by 217
Incorporating language phenotypes strengthens evidence of linkage to autism
Bradford, Y., Haines, J. L., Hutcheson, H. B., Gardiner, M., Braun, T. A., Sheffield, V. C., Cassavant, T., Huang, W. Q., Wang, K., Vieland, V. J., et al. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1497 · Cited by 205
Gatto (2010) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2010.00004 · Cited by 204
Deidda, G., Bozarth, I. F., & Cancedda, L. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00119 · Cited by 192
Atypical patterns of cerebral motor activation in autism: a functional magnetic resonance study
Müller, R.-A., Pierce, K., Ambrose, J. B., Allen, G., & Courchesne, E. (2001) · Biological Psychiatry · doi:10.1016/s0006-3223(00)01004-0 · Cited by 186
Self-citationDecreased left perisylvian GABA concentration in children with autism and unaffected siblings
Rojas, D. C., Singel, D., Steinmetz, S. E., Hepburn, S., & Brown, M. S. (2013) · NeuroImage · doi:10.1016/j.neuroimage.2013.01.045 · Cited by 197
Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops
Mullins, C., Fishell, G., & Tsien, R. W. (2016) · Neuron · doi:10.1016/j.neuron.2016.02.017 · Cited by 167
Association Analysis of Chromosome 15 GABAAReceptor Subunit Genes in Autistic Disorder
Menold, M. M., Shao, Y., Wolpert, C. M., Donnelly, S. L., Raiford, K. L., Martin, E. R., Ravan, S. A., Abramson, R. K., Wright, H. H., DeLong, G. R., et al. (2001) · Journal of Neurogenetics · doi:10.3109/01677060109167380 · Cited by 181
Epigenetic mechanisms in the context of complex diseases
van Vliet, J., Oates, N., & Whitelaw, E. (2007) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-007-6526-z · Cited by 171
Nicholas, B., Rudrasingham, V., Nash, S., Kirov, G., Owen, M. J., & Wimpory, D. C. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001953 · Cited by 176
Tipping the balance of autism risk: potential mechanisms linking pesticides and autism
Shelton, J. F., Hertz-Picciotto, I., & Pessah, I. N. (2012) · Environmental Health Perspectives · doi:10.1289/ehp.1104553 · Cited by 164
Ingram, J. L., Stodgell, C., Hyman, S. L., Figlewicz, D. A., WEITKAMP, L. R., & Rodier, P. M. (2000) · Teratology · doi:10.1002/1096-9926(200012)62:6 · Cited by 169
Heritable and Nonheritable Risk Factors for Autism Spectrum Disorders
Newschaffer, C. J. (2002) · Epidemiologic Reviews · doi:10.1093/epirev/mxf010 · Cited by 168
Parvalbumin-, calbindin-, and calretinin-immunoreactive hippocampal interneuron density in autism
Lawrence, Y. A., Kemper, T. L., Bauman, M. L., & Blatt, G. J. (2009) · Acta Neurologica Scandinavica · doi:10.1111/j.1600-0404.2009.01234.x · Cited by 165
Urraca, N., Cleary, J., Brewer, V., Pivnick, E. K., McVicar, K., Thibert, R. L., Schanen, N. C., Esmer, C., Lamport, D., & Reiter, L. T. (2013) · Autism Research · doi:10.1002/aur.1284 · Cited by 164
Autism: recent molecular genetic advances
Lamb, J. A. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.6.861 · Cited by 164
Evaluation of linkage of markers on chromosome 6p with schizophrenia in Taiwanese families
Hwu, H., Lin, M., Lee, P.-C., Lee, S. F. ‐., Ouyang, W., & Liu, C. (2000) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(20000207)96:1 · Cited by 30
Linkage Disequilibrium at the Angelman Syndrome Gene UBE3A in Autism Families
Nurmi, E. L., Bradford, Y., Chen, Y.-H., Hall, J. L., Arnone, B., Gardiner, M., Hutcheson, H. B., Gilbert, J. R., Pericak‐Vance, M. A., Copeland‐Yates, S. A., et al. (2001) · Genomics · doi:10.1006/geno.2001.6617 · Cited by 157
Souery, D., Lipp, O., Rivelli, S. K., Massat, I., Serretti, A., Cavallini, M. C., Ackenheil, M., Adolfsson, R., Aschauer, H. N., Blackwood, D., et al. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991015)88:5 · Cited by 19
Self-citationRojas, D. C., Maharajh, K., Teale, P. D., & Rogers, S. J. (2008) · BMC Psychiatry · doi:10.1186/1471-244x-8-66 · Cited by 163
Depienne, C., Moreno‐De‐Luca, D., Héron, D., Bouteiller, D., Gennetier, A., Delorme, R., Chaste, P., Siffroi, J., Chantot‐Bastaraud, S., Benyahia, B., et al. (2009) · Biological Psychiatry · doi:10.1016/j.biopsych.2009.01.025 · Cited by 164
A computational perspective on autism
Rosenberg, A., Patterson, J. S., & Angelaki, D. E. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1510583112 · Cited by 156
McCauley, J. L., Olson, L. M., Delahanty, R., Amin, T., Nurmi, E. L., Organ, E. L., Jacobs, M. M., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30038 · Cited by 160
Halsey, N. A., Hyman, S. L., & Panel, T. C. W. (2001) · PEDIATRICS · doi:10.1542/peds.107.5.e84 · Cited by 156
Molecular epigenetics of Angelman syndrome
Lalande, M., & Calciano, M. A. (2007) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-007-6460-0 · Cited by 149
Badcock, C., & Crespi, B. J. (2006) · Journal of Evolutionary Biology · doi:10.1111/j.1420-9101.2006.01091.x · Cited by 151
Whitney, E. R., Kemper, T. L., Rosene, D. L., Bauman, M. L., & Blatt, G. J. (2009) · Journal of Neuroscience Research · doi:10.1002/jnr.22056 · Cited by 142
Genetic aspects of autism spectrum disorders: insights from animal models
Banerjee, S., Riordan, M., & Bhat, M. A. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00058 · Cited by 156
GABAA receptor subtypes as targets for neuropsychiatric drug development
Korpi, E. R., & Sinkkonen, S. T. (2005) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2005.05.009 · Cited by 137
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders
Schaefer, G. B., & Mendelsohn, N. J. (2008) · Genetics in Medicine · doi:10.1097/gim.0b013e31816b5cc9 · Cited by 143
Méndez, M. A., Horder, J., Myers, J., Coghlan, S., Stokes, P. R. A., Erritzøe, D., Howes, O. D., Lingford-Hughes, A. R., Murphy, D., & Nutt, D. (2012) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.04.008 · Cited by 128
Genetic and Immunologic Considerations in Autism
Korvatska, O., de Water, J. V., Anders, T. F., & Gershwin, M. E. (2002) · Neurobiology of Disease · doi:10.1006/nbdi.2002.0479 · Cited by 127
Cook, E. H. (2001) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/s1056-4993(18)30061-0 · Cited by 124
Self-citationMaternal transmission of a rare GABRB3 signal peptide variant is associated with autism
Delahanty, R., Kang, J., Brune, C. W., Kistner, E. O., Courchesne, E., Cox, N. J., Cook, E. H., Macdonald, R. L., & Sutcliffe, J. S. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.118 · Cited by 122
Self-citationLauritsen, M. B., & Ewald, H. (2001) · Acta Psychiatrica Scandinavica · doi:10.1034/j.1600-0447.2001.00086.x · Cited by 122
Molecular genetics and animal models in autistic disorder
Andres, C. R. (2002) · Brain Research Bulletin · doi:10.1016/s0361-9230(01)00642-6 · Cited by 121
MeCP2-dependent repression of an imprinted miR-184 released by depolarization
Nomura, T., Kimura, M., Horii, T., Morita, S., Soejima, H., Kudo, S., & Hatada, I. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn011 · Cited by 121
Nurmi, E. L., Dowd, M., Leyfer, O. T., Haines, J. L., Folstein, S. E., & Sutcliffe, J. S. (2003) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/01.chi.0000046868.56865.0f · Cited by 117
The Neurobiological Context of Autism
Keller, F., & Persico, A. M. (2003) · Molecular Neurobiology · doi:10.1385/mn:28:1:1 · Cited by 115
Catatonia is Hidden in Plain Sight Among Different Pediatric Disorders: A Review Article
Dhossche, D. M., & Wachtel, L. E. (2010) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2010.07.001 · Cited by 109
Herzing, L. B. K. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.15.1707 · Cited by 109
Autism and 15q11‐q13 disorders: Behavioral, genetic, and pathophysiological issues
Dykens, E. M., Sutcliffe, J. S., & Levitt, P. R. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20042 · Cited by 109
Genes associated with autism spectrum disorder
Li, X., Zou, H., & Brown, W. T. (2012) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2012.05.017 · Cited by 107
The Cerebellar Involvement in Autism Spectrum Disorders: From the Social Brain to Mouse Models
Mapelli, L., Soda, T., D'Angelo, E. U., & Prestori, F. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23073894 · Cited by 114
The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder
Battaglia, A. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.08.006 · Cited by 103
Genetics of autism spectrum disorder
Klauck, S. M. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201610 · Cited by 103
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
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
