Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
Open accessAbstract
Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.
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
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?
Cytogenetic abnormalities have been reported for almost every chromosome.
“Similarly, cytogenetic abnormalities have been reported for almost every chromosome [for a review, see Ref. (3–7) and http://projects.tcag.ca/autism/].”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [6]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,841 · see citing works
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990 · see citing works
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 · see citing works
Mendelson, G. (1995) · Australian & New Zealand Journal of Psychiatry · doi:10.3109/00048679509064964 · Cited by 2,592 · see citing works
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 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works
Mapping autism risk loci using genetic linkage and chromosomal rearrangements
The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402 · see citing works
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265 · see citing works
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207 · see citing works
A Neuroligin-3 Mutation Implicated in Autism Increases Inhibitory Synaptic Transmission in Mice
Tabuchi, K., Blundell, J., Etherton, M. R., Hammer, R. E., Liu, X., Powell, C. M., & Südhof, T. C. (2007) · Science · doi:10.1126/science.1146221 · Cited by 997 · see citing works
Evidence-Based Comprehensive Treatments for Early Autism
Rogers, S. J., & Vismara, L. A. (2008) · Journal of Clinical Child & Adolescent Psychology · doi:10.1080/15374410701817808 · Cited by 984 · see citing works
The epidemiology of autism: a review
FOMBONNE, E. (1999) · Psychological Medicine · doi:10.1017/s0033291799008508 · Cited by 981 · see citing works
Pten Regulates Neuronal Arborization and Social Interaction in Mice
Kwon, C.-H., Luikart, B. W., Powell, C. M., Zhou, J., Matheny, S. A., Zhang, W., Li, Y., Baker, S. J., & Parada, L. F. (2006) · Neuron · doi:10.1016/j.neuron.2006.03.023 · Cited by 970 · see citing works
Neuroanatomic observations of the brain in autism: a review and future directions
Bauman, M. L., & Kemper, T. L. (2005) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.09.006 · Cited by 919 · see citing works
PTEN: One Gene, Many Syndromes
Eng, C. (2003) · Human Mutation · doi:10.1002/humu.10257 · Cited by 787 · see citing works
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 · see citing works
Broader autism phenotype: evidence from a family history study of multiple-incidence autism families
(1997) · American Journal of Psychiatry · doi:10.1176/ajp.154.2.185 · Cited by 777 · see citing works
Laumonnier, F., Bonnet-Brilhault, F., Gomot, M., Blanc, R., David, A., Moizard, M.-P., Raynaud, M., Ronce, N., Lemonnier, E., Calvas, P., et al. (2004) · The American Journal of Human Genetics · doi:10.1086/382137 · Cited by 768 · see citing works
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731 · see citing works
Tuchman, R. F., & Rapin, I. (2002) · The Lancet Neurology · doi:10.1016/s1474-4422(02)00160-6 · Cited by 713 · see citing works
Contribution of SHANK3 Mutations to Autism Spectrum Disorder
Moessner, R., Marshall, C. R., Sutcliffe, J. S., Skaug, J., Pinto, D., Vincent, J., Zwaigenbaum, L., Fernandez, B., Roberts, W., Szatmari, P., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/522590 · Cited by 681 · see citing works
Neuroligin 1: A splice site-specific ligand for β-neurexins
Ichtchenko, K., Hata, Y., Nguyen, T., Ullrich, B., Missler, M., Moomaw, C. R., & Südhof, T. C. (1995) · Cell · doi:10.1016/0092-8674(95)90396-8 · Cited by 663 · see citing works
Association Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Neurexin–neuroligin signaling in synapse development
Craig, A. M., & Kang, Y. (2007) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2007.01.011 · Cited by 640 · see citing works
Fombonne, E. (2003) · JAMA · doi:10.1001/jama.289.1.87 · Cited by 604 · see citing works
Disruption of neurexin 1 associated with autism spectrum disorder
Kim, H.-G., Kishikawa, S., Higgins, A. W., Seong, I.-S., Donovan, D. J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.09.011 · Cited by 578 · see citing works
Searching for ways out of the autism maze: genetic, epigenetic and environmental clues
Persico, A. M., & Bourgeron, T. (2006) · Trends in Neurosciences · doi:10.1016/j.tins.2006.05.010 · Cited by 575 · see citing works
Self-citationIncidence of autism spectrum disorders: Changes over time and their meaning*
Rutter, M. L. (2005) · Acta Paediatrica · doi:10.1111/j.1651-2227.2005.tb01779.x · Cited by 516 · see citing works
Macrocephaly in children and adults with autism
LAINHART, J. E., PIVEN, J., WZOREK, M., LANDA, R., SANTANGELO, S. L., COON, H., & FOLSTEIN, S. E. (1997) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199702000-00019 · Cited by 439 · see citing works
The developmental neurobiology of autism spectrum disorder
DiCicco-Bloom, E., Lord, C., Zwaigenbaum, L., Courchesne, E., Dager, S. R., Schmitz, C., Schultz, R. T., Crawley, J., & Young, L. J. (2006) · The Journal of Neuroscience · doi:10.1523/jneurosci.1712-06.2006 · Cited by 434 · see citing works
Microcephaly and Macrocephaly in Autism
Fombonne, E. J., Rogé, B., Claverie, J., Courty, S., & Fremolle-Kruck, J. (1999) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1023036509476 · Cited by 331 · see citing works
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 323 · see citing works
Jacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V, Lyonnet, S., Amiel, J., Le Merrer, M., Heron, D., de Blois, M.-C., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.043166 · Cited by 305 · see citing works
Tischfield, M. A., Bosley, T. M., Salih, M. A. M., Alorainy, I. A., Şener, E. C., Nester, M. J., Oystreck, D. T., Chan, W. M., Andrews, C. V., Erickson, R. P., et al. (2005) · Nature Genetics · doi:10.1038/ng1636 · Cited by 304 · see citing works
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Badner, J. A., Matsui, S., Conroy, J., McQuaid, D., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.01.009 · Cited by 299 · see citing works
Brain development in autism: Early overgrowth followed by premature arrest of growth
Courchesne, E. (2004) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.20020 · Cited by 295 · see citing works
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 271 · see citing works
Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly
Buxbaum, J. D., Cai, G., Chaste, P., Nygren, G., Goldsmith, J., Reichert, J. G., Anckarsäter, H. S., Råstam, M., Smith, C. J., Silverman, J. M., et al. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30493 · Cited by 269 · see citing works
Familial deletion within NLGN4 associated with autism and Tourette syndrome
Lawson‐Yuen, A., Saldivar, J., Sommer, S. S., & Picker, J. D. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202006 · Cited by 269 · see citing works
Disorder-associated mutations lead to functional inactivation of neuroligins
Chih, B., Afridi, S. K., Clark, L., & Scheiffele, P. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh158 · Cited by 242 · see citing works
The Arg451Cys-Neuroligin-3 Mutation Associated with Autism Reveals a Defect in Protein Processing
Comoletti, D., Jaco, A. D., Jennings, L. L., Flynn, R. E., Gaietta, G. M., Tsigelny, I. F., Ellisman, M. H., & Taylor, P. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.0468-04.2004 · Cited by 241 · see citing works
Chromosomal disorders and autism
Gillberg, C. (1998) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1026004505764 · Cited by 237 · see citing works
Identification of MeCP2 mutations in a series of females with autistic disorder
Carney, R. M., Wolpert, C. M., Ravan, S. A., Shahbazian, M. D., Ashley‐Koch, A. E., Cuccaro, M. L., Vance, J. M., & Pericak‐Vance, M. A. (2003) · Pediatric Neurology · doi:10.1016/s0887-8994(02)00624-0 · Cited by 234 · see citing works
PTEN mutation in a family with Cowden syndrome and autism
Goffin, A., Hoefsloot, L. H., Bosgoed, E., Swillen, A., & Fryns, J. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1477 · Cited by 215 · see citing works
Head Circumference in Autism and Other Pervasive Developmental Disorders
Woodhouse, W., Bailey, A. J., Rutter, M., Bolton, P., Baird, G., & Couteur, A. S. L. (1996) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.1996.tb01458.x · Cited by 171 · see citing works
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
Talebizadeh, Z., Lam, D. Y., Theodoro, M. F., Bittel, D. C., Lushington, G. H., & Butler, M. G. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036897 · Cited by 171 · see citing works
Herman, G. E., Butter, E. M., Enrile, B. G., Pastore, M., Prior, T. W., & Sommer, A. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31619 · Cited by 160 · see citing works
Analysis of four neuroligin genes as candidates for autism
Ylisaukko‐oja, T., Rehnström, K., Auranen, M., Vanhala, R., Alén, R., Kempas, E., Ellonen, P., Turunen, J. A., Makkonen, I., Riikonen, R., et al. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201474 · Cited by 157 · see citing works
Neurexin 1α structural variants associated with autism
Jin, Y., Noltner, K., Feng, J., Li, W., Schroer, R. J., Skinner, C. D., Zeng, W., Schwartz, C. E., & Sommer, S. S. (2008) · Neuroscience Letters · doi:10.1016/j.neulet.2008.04.074 · Cited by 156 · see citing works
Miller, M. T., Strömland, K., Ventura, L. O., Johansson, M., Bandim, J. M., & Gillberg, C. (2004) · International Journal of Developmental Neuroscience · doi:10.1016/j.ijdevneu.2004.06.007 · Cited by 153 · see citing works
Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome
Lam, C. W., YEUNG, W.-L., KO, C.-H., POON, P. M. K., TONG, S.-F., CHAN, K.-Y., Lo, I. F. M., CHAN, L. Y. S., HUI, J., WONG, V., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.12.e41 · Cited by 149 · see citing works
Stevenson, R. E., Schroer, R. J., Skinner, C. D., Fender, D., & Simensen, R. J. (1997) · The Lancet · doi:10.1016/s0140-6736(05)62956-x · Cited by 148 · see citing works
Shibayama, A., Cook, E. H., Feng, J., Glanzmann, C., Jin, Y., Craddock, N. J., Jones, I. R., Goldman, D. A., Heston, L. L., & Sommer, S. S. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30016 · Cited by 143 · see citing works
NLGN3/NLGN4 gene mutations are not responsible for autism in the Quebec population
Gauthier, J., Bonnel, A., St‐Onge, J., Karemera, L., Laurent, S. B., Mottron, L., Fombonne, E. J., Joober, R., & Rouleau, G. A. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30066 · Cited by 132 · see citing works
Rajcan‐Separovic, E., Harvard, C., Liu, X., McGillivray, B. C., Hall, J. G., Qiao, Y., Hurlburt, J., Hildebrand, J., Mickelson, E. C. R., Holden, J. J. A., et al. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2006.045013 · Cited by 130 · see citing works
Mutation screening of X‐chromosomal neuroligin genes: No mutations in 196 autism probands
Vincent, J. B., Kolozsvari, D., Roberts, W., Bolton, P., Gurling, H., & Scherer, S. W. (2004) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30069 · Cited by 127 · see citing works
Clinical, Morphological, and Biochemical Correlates of Head Circumference in Autism
Sacco, R., Militerni, R., Frolli, A., Bravaccio, C., Gritti, A., Elia, M., Curatolo, P., Manzi, B., Trillo, S., Lenti, C., et al. (2007) · Biological Psychiatry · doi:10.1016/j.biopsych.2007.04.039 · Cited by 120 · see citing works
Self-citationGenetic testing in autism: how much is enough?
Herman, G. E., Henninger, N., Ratliff-Schaub, K. L., Pastore, M., Fitzgerald‐Butt, S. M., & McBride, K. L. (2007) · Genetics in Medicine · doi:10.1097/gim.0b013e31804d683b · Cited by 112 · see citing works
The Clinical Assessment of Attachment in Children Under Five
Boris, N. W., Fueyo, M., & Zeanah, C. H. (1997) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-199702000-00020 · Cited by 105 · see citing works
Conciatori, M., Stodgell, C., Hyman, S. L., O’Bara, M. A., Militerni, R., Bravaccio, C., Trillo, S., Montecchi, F., Schneider, C., Melmed, R. D., et al. (2004) · Biological Psychiatry · doi:10.1016/j.biopsych.2003.10.005 · Cited by 101 · see citing works
Self-citationAutism: highly heritable but not inherited
Beaudet, A. L. (2007) · Nature Medicine · doi:10.1038/nm0507-534 · Cited by 100 · see citing works
Blasi, F., Bacchelli, E., Pesaresi, G., Carone, S., Bailey, A. J., & Maestrini, E. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30287 · Cited by 98 · see citing works
Clinical characterization of the HOXA1 syndrome BSAS variant
Bosley, T. M., Salih, M. A. M., Alorainy, I. A., Oystreck, D. T., Nester, M. J., Abu‐Amero, K. K., Tischfield, M. A., & Engle, E. C. (2007) · Neurology · doi:10.1212/01.wnl.0000276947.59704.cf · Cited by 91 · see citing works
Mutation analysis of the coding sequence of the MECP2 gene in infantile autism
Beyer, K. S., Blasi, F., Bacchelli, E., Klauck, S. M., Maestrini, E., Poustka, A., & International Molecular Genetic Study of Autism Consortium (2002) · Human Genetics · doi:10.1007/s00439-002-0786-3 · Cited by 87 · see citing works
Study of MECP2 gene in Rett syndrome variants and autistic girls
Zappella, M., Meloni, I., Longo, I., Canitano, R., Hayek, G., Rosaia, L., Mari, F., & Renieri, A. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.10070 · Cited by 85 · see citing works
The diagnosis of autism in a female: could it be Rett syndrome?
Young, D. J., Bebbington, A., Anderson, A., Ravine, D., Ellaway, C., Kulkarni, A. M., de Klerk, N. H., Kaufmann, W. E., & Leonard, H. (2007) · European Journal of Pediatrics · doi:10.1007/s00431-007-0569-x · Cited by 70 · see citing works
Mutation analysis of methyl-CpG binding protein family genes in autistic patients
Li, H., Yamagata, T., Mori, M., Yasuhara, A., & Momoi, M. Y. (2005) · Brain and Development · doi:10.1016/j.braindev.2004.08.003 · Cited by 64 · see citing works
MECP2 coding sequence and 3′UTR variation in 172 unrelated autistic patients
Coutinho, A. M., Oliveira, G., Katz, C., Feng, J., Jin, Y., Yang, C., Marques, C., Ataíde, A., Miguel, T. S., Borges, L., et al. (2007) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30490 · Cited by 63 · see citing works
Analysis of X chromosome inactivation in autism spectrum disorders
Gong, X., Bacchelli, E., Blasi, F., Claudio Toma, A., Betancur, C., Chaste, P., Delorme, R., Durand, C. M., Fauchereau, F., Goubran‐Botros, H., et al. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30688 · Cited by 55 · see citing works
No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients
Vourc’h, P., Bienvenu, T., Beldjord, C., Chelly, J., Barthélémy, C., Müh, J. P., & Andres, C. R. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200660 · Cited by 50 · see citing works
Wermter, A., Kamp‐Becker, I., Strauch, K., Schulte‐Körne, G., & Remschmidt, H. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30618 · Cited by 50 · see citing works
Absence of MeCP2 mutations in patients from the South Carolina autism project
Lobo‐Menendez, F., Sossey‐Alaoui, K., Bell, J. M., Copeland‐Yates, S. A., Plank, S. M., Sanford, S. O., Skinner, C. D., Simensen, R. J., Schroer, R. J., & Michaelis, R. C. (2002) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.10016 · Cited by 50 · see citing works
Family and molecular data for a fine analysis of age at onset in Huntington disease
Squitieri, F., Sabbadini, G., Mandich, P., Gellera, C., Maria, E. D., Bellone, E., Castellotti, B., Nargi, E., de Grazia, U., Frontali, M., et al. (2000) · American Journal of Medical Genetics · doi:10.1002/1096-8628(20001211)95:4 · Cited by 48 · see citing works
Genetic counseling and ethical issues for autism
McMahon, W. M., Baty, B. J., & Botkin, J. R. (2006) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30082 · Cited by 41 · see citing works
Management Updates for Women with a BRCA1 or BRCA2 Mutation
Nusbaum, R. H., & Isaacs, C. J. (2007) · Molecular Diagnosis & Therapy · doi:10.1007/bf03256234 · Cited by 34 · see citing works
HOXA1 gene variants influence head growth rates in humans
Muscarella, L. A., Guarnieri, V., Sacco, R., Militerni, R., Bravaccio, C., Trillo, S., Schneider, C., Melmed, R. D., Elia, M., Mascia, M. L., et al. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30469 · Cited by 30 · see citing works
Self-citationMicrocephaly and macrocephaly in autism.
Fombonne, E. J., Rogé, B., Claverie, J., et al. (2000) · HAL (Le Centre pour la Communication Scientifique Directe) · Cited by 30 · see citing works
Sequence variants within exon 1 of MECP2 occur in females with mental retardation
Harvey, C. G., Menon, S. D., Stachowiak, B., Noor, A., Proctor, A., Mensah, A. K., Mnatzakanian, G. N., Alfred, S. E., Guo, R., Scherer, S. W., et al. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30425 · Cited by 23 · see citing works
Khosravani, H., Altier, C., Zamponi, G. W., & Colicos, M. A. (2005) · FEBS Letters · doi:10.1016/j.febslet.2005.10.051 · Cited by 20 · see citing works
Lynch, P. M. (2007) · Digestion · doi:10.1159/000108395 · Cited by 20 · see citing works
MeCP2 gene mutation analysis in autistic boys with developmental regression
Xi, C.-Y., Ma, H., Lu, Y., Zhao, Y.-J., Hua, T.-Y., Zhao, Y., & Ji, Y. (2007) · Psychiatric Genetics · doi:10.1097/ypg.0b013e3280114a5c · Cited by 19 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Behavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462 · see citing works
Autism spectrum disorders-a genetics review
Miles, J. H. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3181ff67ba · Cited by 567 · see citing works
Silverman, J. L., Tolu, S. S., Barkan, C. L., & Crawley, J. N. (2010) · Neuropsychopharmacology · doi:10.1038/npp.2009.201 · Cited by 438 · see citing works
Subgrouping the Autism Spectrum: Reflections on DSM-5
Lai, M.-C., Lombardo, M. V., Chakrabarti, B., & Baron-Cohen, S. (2013) · PLoS Biology · doi:10.1371/journal.pbio.1001544 · Cited by 330 · see citing works
“This includes identifiable ASD-related genetic syndromes, chromosomal anomalies, and rare and highly pen-etrant de novo and non–de novo genetic variations (copy number variations and rare genetic variants) [57,59–61].”
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 · see citing works
Mitochondrial dysfunction in autism spectrum disorders: Cause or effect?
Palmieri, L., & Persico, A. M. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2010.04.018 · Cited by 173 · see citing works
Self-citationThe Genetics of Autism: Key Issues, Recent Findings, and Clinical Implications
El-Fishawy, P., & State, M. W. (2010) · Psychiatric Clinics of North America · doi:10.1016/j.psc.2009.12.002 · Cited by 166 · see citing works
Low stress reactivity and neuroendocrine factors in the BTBR T+tf/J mouse model of autism
Silverman, J. L., Yang, M., Turner, S. M., Katz, A. M., Bell, D. B., Koenig, J. I., & Crawley, J. N. (2010) · Neuroscience · doi:10.1016/j.neuroscience.2010.09.059 · Cited by 146 · see citing works
Santini, E., & Klann, E. (2014) · Science Signaling · doi:10.1126/scisignal.2005832 · Cited by 118 · see citing works
Autism and Oxytocin: New Developments in Translational Approaches to Therapeutics
Green, J. J., & Hollander, E. (2010) · Neurotherapeutics · doi:10.1016/j.nurt.2010.05.006 · Cited by 124 · see citing works
Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome
Lintas, C., Sacco, R., & Persico, A. M. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.11.010 · Cited by 96 · see citing works
Self-citationGreco, C. M., Navarro, C. S., Hunsaker, M. R., Maezawa, I., Shuler, J. F., Tassone, F., Delany, M., Au, J. W., Berman, R. F., Jin, L.-W., et al. (2011) · Molecular Autism · doi:10.1186/2040-2392-2-2 · Cited by 90 · see citing works
Wiśniowiecka‐Kowalnik, B., Nesteruk, M., Peters, S. U., Xia, Z., Cooper, M. L., Savage, S., Amato, R. S., Bader, P., Browning, M. F., Haun, C. L., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31064 · Cited by 82 · see citing works
Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder
Napolioni, V., Ober-Reynolds, B., Szelinger, S., Corneveaux, J. J., Pawlowski, T., Ober-Reynolds, S., Kirwan, J., Persico, A. M., Melmed, R. D., Craig, D. W., et al. (2013) · Journal of Neuroinflammation · doi:10.1186/1742-2094-10-38 · Cited by 76 · see citing works
Self-citationAssociation of autism with polyomavirus infection in postmortem brains
Lintas, C., Altieri, L., Lombardi, F., Sacco, R., & Persico, A. M. (2010) · Journal of Neurovirology · doi:10.3109/13550281003685839 · Cited by 53 · see citing works
Self-citationFamily Physicians' Awareness of Autism Spectrum Disorder: Results from a Survey Study
Altay, M. A. (2019) · Open Access Macedonian Journal of Medical Sciences · doi:10.3889/oamjms.2019.199 · Cited by 43 · see citing works
- Authors
- Lintas, C., & Persico, A. M.
- Affiliations
- Università Campus Bio-Medico (IT)
- Corresponding author
- Persico, A M
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2008-08-26
- Volume
- 46
- Issue
- 1
- Pages
- 1-8
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- PMC
- PMC2603481
- OpenAlex
- W2127038438
- Cited by
- 178
- References
- 83
- Citations by year
- 2026: 2 · 2024: 5 · 2023: 4 · 2022: 4 · 2021: 5 · 2020: 5 · 2019: 5 · 2018: 7 · 2017: 8 · 2016: 14 · 2015: 8 · 2014: 16 · 2013: 15 · 2012: 14
- FWCI
- 1.66
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- Journal of Medical Genetics (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- 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 › Genomic variations and chromosomal abnormalities
- Keywords
- autism spectrum disorder, genotype-phenotype correlation, chromosomal abnormalities, de novo mutations, genetic testing, clinical phenotype, behavioral phenotypes, morphological phenotypes
- MeSH terms
- Tensins, Autistic Disorder, Carrier Proteins, Genetic Counseling, Genetic Testing, Genetics, Medical, Humans, Membrane Proteins, Microfilament Proteins, Nerve Tissue Proteins, Phenotype, Cell Adhesion Molecules, Neuronal, PTEN Phosphohydrolase, Methyl-CpG-Binding Protein 2, MSX1 Transcription Factor
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
