Chromatin regulators, phenotypic robustness, and autism risk

The Future of Genetic Studies of Complex Human Diseases

Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355 · 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

Psychiatric Disorders in Children With Autism Spectrum Disorders: Prevalence, Comorbidity, and Associated Factors in a Population-Derived Sample

Simonoff, E., Pickles, A., Charman, T., Chandler, S., Loucas, T., & Baird, G. (2008) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/chi.0b013e318179964f · Cited by 3,399 · see citing works

Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis

(2013) · The Lancet · doi:10.1016/s0140-6736(12)62129-1 · Cited by 3,010 · 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

Hsp90 as a capacitor for morphological evolution

Rutherford, S. L., & Lindquist, S. (1998) · Nature · doi:10.1038/24550 · Cited by 2,270 · see citing works

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Cross-Disorder Group of the Psychiatric Genomics Consortium (2013) · Nature Genetics · doi:10.1038/ng.2711 · Cited by 2,263 · see citing works

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084 · see citing works

Functional impact of global rare copy number variation in autism spectrum disorders

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013 · cited 3× · see citing works

Stochastic mechanisms in gene expression.

McAdams, H., & Arkin, A. (1997) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.94.3.814 · Cited by 1,970 · see citing works

Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology

Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874 · cited 2× · see citing works

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 · 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

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734 · see citing works

Prevalence and correlates of adult attention-deficit hyperactivity disorder: meta-analysis

Simon, V., Czobor, P., Bálint, S., Mészáros, Á., & Bitter, I. (2009) · British Journal of Psychiatry · doi:10.1192/bjp.bp.107.048827 · Cited by 1,601 · see citing works

CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism

Splawski, I., Timothy, K. W., Sharpe, L. M., Decher, N., Kumar, P., Bloise, R., Napolitano, C., Schwartz, P. J., Joseph, R. M., Condouris, K., et al. (2004) · Cell · doi:10.1016/j.cell.2004.09.011 · Cited by 1,586 · cited 2× · see citing works

De Novo Gene Disruptions in Children on the Autistic Spectrum

Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · see citing works

Recurrence Risk for Autism Spectrum Disorders: A Baby Siblings Research Consortium Study

Ozonoff, S., Young, G. S., Carter, A., Messinger, D., Yirmiya, N., Zwaigenbaum, L., Bryson, S., Carver, L. J., Constantino, J. N., Dobkins, K., et al. (2011) · Pediatrics · doi:10.1542/peds.2010-2825 · Cited by 1,429 · see citing works

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Vissers, L. E. L. M., van Ravenswaaij‐Arts, C. M. A., Admiraal, R. J. C., Hurst, J. A., Vries, B. B. A. D., Janssen, I. M., van der Vliet, W. A., Huys, E., de Jong, P. J., Hamel, B. C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1407 · Cited by 1,281 · see citing works

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.002 · Cited by 1,263 · see citing works

Sex differences in autism spectrum disorders

Werling, D. M., & Geschwind, D. H. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32835ee548 · Cited by 1,245 · see citing works

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science · doi:10.1126/science.1227764 · Cited by 1,240 · see citing works

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Petrif, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., et al. (1995) · Nature · doi:10.1038/376348a0 · Cited by 1,217 · see citing works

Sex differences in the brain: implications for explaining autism

Baron-Cohen, S., Knickmeyer, R. C., & Belmonte, M. K. (2005) · Science · doi:10.1126/science.1115455 · Cited by 1,145 · see citing works

Sex Differences in Mental Test Scores, Variability, and Numbers of High-Scoring Individuals

Hedges, L. V., & Nowell, A. (1995) · Science · doi:10.1126/science.7604277 · Cited by 1,112 · see citing works

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature · doi:10.1038/nature07999 · Cited by 989 · see citing works

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965 · see citing works

Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting

Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954 · see citing works

De novo mutations in histone-modifying genes in congenital heart disease

Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature · doi:10.1038/nature12141 · Cited by 934 · see citing works

Prevalence of reading disability in boys and girls. Results of the Connecticut Longitudinal Study

Shaywitz, S. E. (1990) · JAMA · doi:10.1001/jama.264.8.998 · Cited by 852 · see citing works

Rare de novo and transmitted copy-number variation in autistic spectrum disorders

Levy, D., Ronemus, M., Yamrom, B., Lee, Y.-H., Leotta, A., Kendall, J., Marks, S., Lakshmi, B., Pai, D., Ye, K., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.015 · Cited by 712 · see citing works

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses

Gilman, S. R., Iossifov, I., Levy, D., Ronemus, M., Wigler, M., & Vitkup, D. (2011) · Neuron · doi:10.1016/j.neuron.2011.05.021 · Cited by 701 · see citing works

CNVs conferring risk of autism or schizophrenia affect cognition in controls

Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., Bjornsdottir, G., Walters, G. B., Jonsdottir, G. A., Doyle, O. M., et al. (2014) · Nature · doi:10.1038/nature12818 · Cited by 699 · see citing works

Postnatal neurodevelopmental disorders: meeting at the synapse?

Zoghbi, H. Y. (2003) · Science · doi:10.1126/science.1089071 · Cited by 691 · see citing works

A Genomic Screen of Autism: Evidence for a Multilocus Etiology

Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302497 · Cited by 684 · see citing works

Using sex differences in psychopathology to study causal mechanisms: Unifying issues and research strategies

Rutter, M., Caspi, A., & Moffitt, T. E. (2003) · Journal of Child Psychology and Psychiatry · doi:10.1111/1469-7610.00194 · Cited by 672 · see citing works

Haploinsufficiency of NSD1 causes Sotos syndrome

Kurotaki, N., Imaizumi, K., Harada, N., Masuno, M., Kondoh, T., Nagai, T., Ohashi, H., Naritomi, K., Tsukahara, M., Makita, Y., et al. (2002) · Nature Genetics · doi:10.1038/ng863 · Cited by 647 · see citing works

Untitled work

(1997) · PubMed · Cited by 645 · see citing works

Variability in gene expression underlies incomplete penetrance

Raj, A., Rifkin, S. A., Andersen, E. C., & van Oudenaarden, A. (2010) · Nature · doi:10.1038/nature08781 · Cited by 642 · see citing works

Prevalence of Reading Disability in Boys and Girls

Shaywitz, S. E. (1990) · JAMA · doi:10.1001/jama.1990.03450080084036 · Cited by 630 · see citing works

A genome-wide linkage and association scan reveals novel loci for autism

The Gene Discovery Project of Johns Hopkins & the Autism Consortium, Weiss, L. A., & Arking, D. E. (2009) · Nature · doi:10.1038/nature08490 · Cited by 619 · see citing works

A genome-wide scan for common alleles affecting risk for autism

Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., Sykes, N., Pagnamenta, A. T., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq307 · Cited by 593 · see citing works

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.028 · Cited by 577 · see citing works

Uncovering cryptic genetic variation

Gibson, G., & Dworkin, I. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1426 · Cited by 546 · cited 1× · see citing works

Genetic architecture in autism spectrum disorder

Devlin, B., & Scherer, S. W. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.03.002 · Cited by 545 · see citing works

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

Gulsuner, S., Walsh, T., Watts, A. C., Lee, M. K., Thornton, A. M., Casadei, S., Rippey, C., Shahin, H., Braff, D., Cadenhead, K. S., et al. (2013) · Cell · doi:10.1016/j.cell.2013.06.049 · Cited by 536 · see citing works

Examining and interpreting the female protective effect against autistic behavior

Robinson, E. B., Lichtenstein, P., Anckarsäter, H., Happé, F., & Ronald, A. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1211070110 · Cited by 531 · see citing works

Systematic mapping of genetic interactions in Caenorhabditis elegans identifies common modifiers of diverse signaling pathways

Lehner, B., Crombie, C., Tischler, J., Fortunato, A., & Fraser, A. G. (2006) · Nature Genetics · doi:10.1038/ng1844 · Cited by 502 · see citing works

The Genetic Landscapes of Autism Spectrum Disorders

Huguet, G., Ey, E., & Bourgeron, T. (2013) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153431 · Cited by 447 · see citing works

Topoisomerases facilitate transcription of long genes linked to autism

King, I. F. G., Yandava, C., Mabb, A. M., Hsiao, J. S., Huang, H., Pearson, B. L., Calabrese, J. M., Starmer, J., Parker, J. S., Magnuson, T., et al. (2013) · Nature · doi:10.1038/nature12504 · Cited by 430 · see citing works

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

Leblond, C. S., Heinrich, J., Delorme, R., Proepper, C., Betancur, C., Huguet, G., Konyukh, M., Chaste, P., Ey, E., Rastam, M., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002521 · Cited by 429 · see citing works

Variability in gene expression underlies incomplete penetrance

van Oudenaarden, A., Rifkin, S. A., Raj, A., & Andersen, E. C. (2010) · DSpace@MIT (Massachusetts Institute of Technology) · Cited by 424 · see citing works

A de novo convergence of autism genetics and molecular neuroscience

Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.005 · Cited by 423 · see citing works

Common genetic variants, acting additively, are a major source of risk for autism

Klei, L., Sanders, S. J., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., Geschwind, D., et al. (2012) · Molecular Autism · doi:10.1186/2040-2392-3-9 · Cited by 418 · see citing works

Clinical Genetic Testing for Patients With Autism Spectrum Disorders

Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., Miller, K. J., Frazier, J. A., Silverstein, I., Picker, J., et al. (2010) · Pediatrics · doi:10.1542/peds.2009-1684 · Cited by 394 · see citing works

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

Kirov, G., Rees, E., Walters, J. T. R., Escott-Price, V., Georgieva, L., Richards, A. L., Chambert, K. D., Davies, G., Legge, S. E., Moran, J. L., et al. (2014) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.07.022 · Cited by 368 · see citing works

Chaperonin overexpression promotes genetic variation and enzyme evolution

Tokuriki, N., & Tawfik, D. S. (2009) · Nature · doi:10.1038/nature08009 · Cited by 347 · see citing works

Sex ratios in early childhood autism and related conditions

Wing, L. (1981) · Psychiatry Research · doi:10.1016/0165-1781(81)90043-3 · Cited by 343 · see citing works

Sexual differentiation of human behavior: Effects of prenatal and pubertal organizational hormones

Berenbaum, S. A., & Beltz, A. M. (2011) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2011.03.001 · Cited by 340 · see citing works

A unified genetic theory for sporadic and inherited autism

Zhao, X., Leotta, A., Kustanovich, V., Lajonchere, C., Geschwind, D. H., Law, K., Law, P., Qiu, S., Lord, C., Sebat, J., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0705803104 · Cited by 319 · see citing works

Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems

Williams, S. R., Aldred, M. A., Der Kaloustian, V. M., Halal, F., Gowans, G., McLeod, D. R., Zondag, S., Toriello, H. V., Magenis, R. E., & Elsea, S. H. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.011 · Cited by 302 · see citing works

Tourette's Disorder: Epidemiology and Comorbidity in Primary School Children

Kadesjö, B., & Gillberg, C. (2000) · Journal of the American Academy of Child & Adolescent Psychiatry · doi:10.1097/00004583-200005000-00007 · Cited by 290 · see citing works

Decanalization and the origin of complex disease

Gibson, G. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2502 · Cited by 285 · see citing works

Imprinting, the X-chromosome, and the male brain: explaining sex differences in the liability to autism

Skuse, D. H. (2000) · Pediatric Research · doi:10.1203/00006450-200001000-00006 · Cited by 285 · see citing works

Network Hubs Buffer Environmental Variation in Saccharomyces cerevisiae

Levy, S. F., & Siegal, M. L. (2008) · PLoS Biology · doi:10.1371/journal.pbio.0060264 · Cited by 279 · see citing works

Hsp90 prevents phenotypic variation by suppressing the mutagenic activity of transposons

Specchia, V., Piacentini, L., Tritto, P., Fanti, L., D’Alessandro, R., Palumbo, G., Pimpinelli, S., & Bozzetti, M. P. (2010) · Nature · doi:10.1038/nature08739 · Cited by 263 · see citing works

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.064378 · Cited by 261 · see citing works

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.011 · Cited by 249 · see citing works

Protein interactome reveals converging molecular pathways among autism disorders

Sakai, Y., Shaw, C. A., Dawson, B. C., Dugas, D. V., Al-Mohtaseb, Z., Hill, D. E., & Zoghbi, H. Y. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002166 · Cited by 226 · see citing works

A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

Ma, D., Salyakina, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Andersen, A. N., Hoffman, J. D., Slifer, S. H., Hedges, D. J., Cukier, H. N., et al. (2009) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00523.x · Cited by 221 · see citing works

Selection to minimise noise in living systems and its implications for the evolution of gene expression

Lehner, B. (2008) · Molecular Systems Biology · doi:10.1038/msb.2008.11 · Cited by 218 · see citing works

Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic‐like responses

Spencer, C. M., Alekseyenko, O. V., Hamilton, S. M., Thomas, A. M., Serysheva, E., Yuva‐Paylor, L. A., & Paylor, R. E. (2011) · Autism Research · doi:10.1002/aur.168 · Cited by 215 · see citing works

Predicting mutation outcome from early stochastic variation in genetic interaction partners

Burga, A. R., Casanueva, O., & Lehner, B. (2011) · Nature · doi:10.1038/nature10665 · Cited by 189 · see citing works

Rare structural variation of synapse and neurotransmission genes in autism

Gai, X., Xie, H. M., Perin, J. C., Takahashi, N., Murphy, K., Wenocur, A. S., D'arcy, M., O'Hara, R. J., Goldmuntz, E., Grice, D. E., et al. (2012) · Molecular Psychiatry · doi:10.1038/mp.2011.10 · Cited by 177 · see citing works

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr243 · Cited by 175 · see citing works

Deletion of TOP3β, a component of FMRP-containing mRNPs, contributes to neurodevelopmental disorders

Stoll, G., Pietiläinen, O. P. H., Linder, B., Suvisaari, J., Brosi, C., Hennah, W., Leppä, V., Torniainen‐Holm, M., Ripatti, S., Ala‐Mello, S., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3484 · Cited by 172 · see citing works

Terminal 22q Deletion Syndrome: A Newly Recognized Cause of Speech and Language Disability in the Autism Spectrum

Manning, M. A., Cassidy, S. B., Clericuzio, C. L., Cherry, A. M., Schwartz, S., Hudgins, L., Enns, G. M., & Hoyme, H. E. (2004) · PEDIATRICS · doi:10.1542/peds.114.2.451 · Cited by 171 · see citing works

To be or not to be active: the stochastic nature of enhancer action

Fiering, S., Whitelaw, E., & Martin, D. I. K. (2000) · BioEssays · doi:10.1002/(sici)1521-1878(200004)22:4 · Cited by 159 · see citing works

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism

Ben-David, E., & Shifman, S. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.148 · Cited by 148 · see citing works

Top3β is an RNA topoisomerase that works with fragile X syndrome protein to promote synapse formation

Xu, D., Shen, W., Guo, R., Xue, Y., Peng, W., Sima, J., Yang, J., Sharov, A. A., Srikantan, S., Yang, J., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3479 · Cited by 146 · see citing works

Networks of Neuronal Genes Affected by Common and Rare Variants in Autism Spectrum Disorders

Ben-David, E., & Shifman, S. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002556 · Cited by 145 · see citing works

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Halgren, C., Kjaergaard, S., Bak, M., Hansen, C. S., El-Schich, Z., Anderson, C., Henriksen, K. F., Hjalgrim, H., Kirchhoff, M., Bijlsma, E. K., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01755.x · Cited by 144 · see citing works

Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

Wagenstaller, J., Spranger, S., Lorenz‐Depiereux, B., Kazmierczak, B., Nathrath, M., Wahl, D., Heye, B., Gläser, D., Liebscher, V., Meitinger, T., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/521274 · Cited by 132 · see citing works

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

Raychaudhuri, S., Korn, J. M., McCarroll, S. A., The International Schizophrenia Consortium, Altshuler, D., Sklar, P., Purcell, S., & Daly, M. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001097 · Cited by 131 · see citing works

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

STAART Psychopharmacology Network, Nord, A. S., Roeb, W., Dickel, D. E., Walsh, T., Kusenda, M., O’Connor, K. L., Malhotra, D., McCarthy, S., Stray, S. M., et al. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.24 · Cited by 125 · see citing works

A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

Beunders, G., van de Kamp, J. M., Veenhoven, R. H., van Hagen, J. M., Nieuwint, A. W. M., & Sistermans, E. A. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.070490 · Cited by 111 · see citing works

Evidence for broader autism phenotype characteristics in parents from multiple‐incidence autism families

Bernier, R., Gerdts, J. A., MUNSON, J. A., Dawson, G., & Estes, A. M. (2011) · Autism Research · doi:10.1002/aur.226 · Cited by 103 · see citing works

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

Jaillard, S., Dubourg, C., Gérard‐Blanluet, M., Delahaye‐Duriez, A., Pasquier, L., Dupont, C., Henry, C., Tabet, A.-C., Lucas, J., Aboura, A., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2008.058156 · Cited by 89 · see citing works

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

Williams, S. R., Mullegama, S. V., Rosenfeld, J. A., Dagli, A. I., Hatchwell, E., Allen, W., Williams, C. A., & Elsea, S. H. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.199 · Cited by 84 · see citing works

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

van Bon, B. W. M., Koolen, D. A., Brueton, L. A., McMullan, D. J., Lichtenbelt, K. D., Adès, L. C., Peters, G. B., Gibson, K., Novara, F., Pramparo, T., et al. (2009) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.152 · Cited by 78 · see citing works

Do men vary more than women in personality? A study in 51 cultures

Borkenau, P., McCrae, R. R., & Terracciano, A. (2012) · Journal of Research in Personality · doi:10.1016/j.jrp.2012.12.001 · Cited by 68 · see citing works

Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities

Hodge, J. C., Mitchell, E. L. D., Pillalamarri, V., Toler, T. L., Bartel, F., Kearney, H. M., Zou, Y. S., Tan, W., Hanscom, C., Kirmani, S., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.42 · Cited by 67 · see citing works

Chromatin regulators as capacitors of interspecies variations in gene expression

Tirosh, I., Reikhav, S., Sigal, N., Assia, Y., & Barkai, N. (2010) · Molecular Systems Biology · doi:10.1038/msb.2010.84 · Cited by 62 · see citing works

Lessons from Model Organisms: Phenotypic Robustness and Missing Heritability in Complex Disease

Queitsch, C., Carlson, K. D., & Girirajan, S. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1003041 · Cited by 61 · see citing works

Decanalization, brain development and risk of schizophrenia

McGrath, J. J., Hannan, A. J., & Gibson, G. C. (2011) · Translational Psychiatry · doi:10.1038/tp.2011.16 · Cited by 48 · see citing works

Investigation of Autism Comorbidities and Associations in a School‐Based Community Sample

Memari, A. H., Ziaee, V., Mirfazeli, F. S., & Kordi, R. (2012) · Journal of Child and Adolescent Psychiatric Nursing · doi:10.1111/j.1744-6171.2012.00325.x · Cited by 42 · see citing works

Does the genotype for schizophrenia often remain unexpressed because of canalization and stochastic events during development?

Woolf, C. M. (1997) · Psychological Medicine · doi:10.1017/s003329179700473x · Cited by 38 · see citing works

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs

Murgiano, L., Tammen, I., Harlizius, B., & Drögemüller, C. (2012) · BMC Genetics · doi:10.1186/1471-2156-13-99 · Cited by 38 · see citing works

Mucins in Intestinal Mucosal Defense and Inflammation: Learning From Clinical and Experimental Studies

Grondin, J. A., Kwon, Y. H., Far, P. M., Haq, S., & Khan, W. I. (2020) · Frontiers in Immunology · doi:10.3389/fimmu.2020.02054 · Cited by 468 · see citing works

Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders

Parikshak, N. N., Gandal, M. J., & Geschwind, D. H. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3934 · Cited by 430 · see citing works

Impact of mycotoxins on the intestine: are mucus and microbiota new targets?

Robert, H., Payros, D., Pinton, P., Théodorou, V., Mercier‐Bonin, M., & Oswald, I. P. (2017) · Journal of Toxicology and Environmental Health Part B · doi:10.1080/10937404.2017.1326071 · Cited by 184 · see citing works

Neocortical neurogenesis and the etiology of autism spectrum disorder

Packer, A. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.03.002 · Cited by 138 · see citing works

Gut Vibes in Parkinson's Disease: The Microbiota‐Gut‐Brain Axis

Bullich‐Vilarrubias, C., Keshavarzian, A., Garssen, J., Kraneveld, A. D., & Perez‐Pardo, P. (2019) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12840 · Cited by 116 · see citing works

Significance of fucose in intestinal health and disease

Garber, J. M., Hennet, T., & Szymanski, C. M. (2021) · Molecular Microbiology · doi:10.1111/mmi.14681 · Cited by 85 · see citing works

Varying Intolerance of Gene Pathways to Mutational Classes Explain Genetic Convergence across Neuropsychiatric Disorders

Shohat, S., Ben‐David, E., & Shifman, S. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.02.007 · Cited by 58 · see citing works

AUTS2 isoforms control neuronal differentiation

Monderer‐Rothkoff, G., Tal, N., Risman, M., Shani, O., Nissim‐Rafinia, M., Malki-Feldman, L., Medvedeva, V. P., Groszer, M., Meshorer, E., & Shifman, S. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0409-1 · Cited by 55 · see citing works

Neurodevelopmental disorders, like cancer, are connected to impaired chromatin remodelers, PI3K/mTOR, and PAK1-regulated MAPK

Nussinov, R., Yavuz, B. R., Arici, M. K., Demirel, H. C., Zhang, M., Liu, Y., Tsai, C., Jang, H., & Tunçbağ, N. (2023) · Biophysical Reviews · doi:10.1007/s12551-023-01054-9 · Cited by 46 · see citing works

Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development

Hurley, S., Mohan, C., Suetterlin, P., Ellingford, R. A., Riegman, K. L. H., Ellegood, J., Caruso, A., Michetti, C., Brock, O., Evans, R., et al. (2021) · Molecular Autism · doi:10.1186/s13229-020-00409-3 · Cited by 42 · see citing works

Altered hippocampal-prefrontal communication during anxiety-related avoidance in mice deficient for the autism-associated gene Pogz

Cunniff, M. M., Markenscoff-Papadimitriou, E., Ostrowski, J., Rubenstein, J. L. R., & Sohal, V. S. (2020) · eLife · doi:10.7554/elife.54835 · Cited by 35 · see citing works

De novo POGZ mutations in sporadic autism disrupt the DNA-binding activity of POGZ

Matsumura, K., Nakazawa, T., Nagayasu, K., Gotoda-Nishimura, N., Kasai, A., Hayata‐Takano, A., Shintani, N., Yamamori, H., Yasuda, Y., Hashimoto, R., et al. (2016) · Journal of Molecular Psychiatry · doi:10.1186/s40303-016-0016-x · Cited by 32 · see citing works

POGZ‐related epilepsy: Case report and review of the literature

Ferretti, A., Barresi, S., Trivisano, M., Ciolfi, A., Dentici, M. L., Radio, F. C., Vigevano, F., Tartaglia, M., & Specchio, N. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61206 · Cited by 29 · see citing works

Genetic and Environmental Control of Neurodevelopmental Robustness in Drosophila

Mellert, D. J., Williamson, W. R., Shirangi, T. R., Card, G. M., & Truman, J. W. (2016) · PLoS ONE · doi:10.1371/journal.pone.0155957 · Cited by 32 · see citing works

Rare inherited missense variants of POGZ associate with autism risk and disrupt neuronal development

Zhao, W., Tan, J., Zhu, T., Ou, J., Li, Y., Shen, L., Wu, H., Han, L., Liu, Y., Jia, X., et al. (2019) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2019.04.002 · Cited by 25 · see citing works

Persistent homology analysis of brain transcriptome data in autism

Shnier, D., Voineagu, M., & Voineagu, I. (2019) · Journal of The Royal Society Interface · doi:10.1098/rsif.2019.0531 · Cited by 20 · see citing works

Etiology of Autism the Complexity of Risk Factors in Autism Spectrum Disorder

Fett‐Conte, A. C., Bossolani-Martins, A. L., & Rosan, D. B. A. (2015) · InTech eBooks · doi:10.5772/59109 · Cited by 21 · see citing works

Convergence and Divergence in the Genetics of Psychiatric Disorders From Pathways to Developmental Stages

Shohat, S., Amelan, A., & Shifman, S. (2020) · Biological Psychiatry · doi:10.1016/j.biopsych.2020.05.019 · Cited by 19 · see citing works

Genomic Variation, Evolvability, and the Paradox of Mental Illness

Gualtieri, C. T. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2020.593233 · Cited by 11 · see citing works

CRISPR knockout screens reveal genes and pathways essential for neuronal differentiation and implicate PEDS1 in neurodevelopment

Amelan, A., Collins, S. C., Damseh, N. S., Hamada, N., Salim, A., Dvir, E., Monderer‐Rothkoff, G., Harel, T., Nagata, K., Yalcin, B., et al. (2026) · Nature Neuroscience · doi:10.1038/s41593-025-02165-0 · Cited by 10 · see citing works

If genetic variation could talk: What genomic data may teach us about the importance of gene expression regulation in the genetics of autism

Yeh, E., & Weiss, L. A. (2016) · Molecular and Cellular Probes · doi:10.1016/j.mcp.2016.10.007 · Cited by 3 · see citing works

Complex genotype–phenotype relationships in neurodevelopmental disorders

Dvir, E., Meshorer, E., & Shifman, S. (2026) · Trends in Genetics · doi:10.1016/j.tig.2026.03.005 · Cited by 3 · see citing works

Non-monotonic regulation of gene expression, neural progenitor fate and brain growth by the chromatin remodeller CHD8Preprint

Hurley, S., Mohan, C., Suetterlin, P., Ellegood, J., Rudari, F., Lerch, J. P., Fernandes, C., & Basson, M. A. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/469031 · Cited by 2 · see citing works

Epigene functional diversity: isoform usage, disordered domain content, and variable binding partners

Bondhus, L., Nava, A. A., Liu, I. S., & Arboleda, V. A. (2025) · Epigenetics & Chromatin · doi:10.1186/s13072-025-00571-z · Cited by 1 · see citing works

Gene Networks in Neuropsychiatric Disease

Parikshak, N., & Geschwind, D. H. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-800105-9.00011-1 · Cited by 1 · see citing works

Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism

Mušová, Z., Hančárová, M., Havlovičová, M., Pourová, R. K., Hrdlička, M., Kraus, J., Trková, M., Stejkal, D., & Sedláček, Z. (2016) · Neuropsychiatric Disease and Treatment · doi:10.2147/ndt.s113917 · Cited by 1 · see citing works

Diferenças sexuais nas redes de regulação gênica durante o período fetal do neurodesenvolvimento

de Toledo, V. H. C. (2022) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.5.2022.tde-01022023-092430

Additional file 1 of Distinct, dosage-sensitive requirements for the autism-associated factor CHD8 during cortical development

Hurley, S., Mohan, C., Suetterlin, P., Ellingford, R. A., Riegman, K. L. H., Ellegood, J., Caruso, A., Michetti, C., Brock, O., Evans, R., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14111228

Synaptic, transcriptional and chromatin genes disrupted in autism

Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature · doi:10.1038/nature13772 · Cited by 2,746 · see citing works

Recessive gene disruptions in autism spectrum disorder

Autism Sequencing Consortium, Doan, R. N., Lim, E. T., De Rubeis, S., Betancur, C., Cutler, D. J., Chiocchetti, A. G., Overman, L. M., Soucy, A., Goetze, S., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0433-8 · Cited by 159 · see citing works

Maintenance of Heterochromatin links Chromatin Modifiers and Neurodevelopment in Autism Spectrum DisorderPreprint

Garvin, M. R., & Kainer, D. (2023) · medRxiv · doi:10.1101/2023.10.10.23296804

Transcriptomic convergence and the female protective effect in autism

Andersen, R., Talukdar, M., Sakamoto, T., Exposito-Alonso, D., Song, J. H. T., Qian, X., Lee, S., Murugan, N., Delgado, R. N., Zhao, S., et al. (2026) · Nature · doi:10.1101/2025.01.20.634000 · Cited by 9 · see citing works

Combined analysis of exome sequencing points toward a major role for transcription regulation during brain development in autism

Ben-David, E., & Shifman, S. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.148 · Cited by 148 · see citing works