SFARI Gene: an evolving database for the autism research community

AutDB: a gene reference resource for autism research

Basu, S. N., Kollu, R., & Banerjee-Basu, S. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkn835 · Cited by 394

Perturbations of a causal synaptic molecular network in autism and schizophrenia revealed with multiplexed imagingPreprint

Falkovich, R., Danielson, E., de Arce, K. P., Wamhoff, E., Cottrell, J. R., Sheng, M., & Bathe, M. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.07.11.499330

Mammalian glial protrusion transcriptomes predict localization of Drosophila glial transcripts required for synaptic plasticityPreprint

Gala, D., Lee, Y. S., Kiourlappou, M., Titlow, J., Teodoro, R. O., & Davis, I. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.11.30.518536

Inhibition of lysine-specific demethylase 1 enzyme activity by TAK-418 as a novel therapy for autism

Matsuda, S., & Kimura, H. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-824421-0.00017-5

Identification of genes responsible for the social skill in the earthworm, Eudrilus eugeniae

Lathakumari, S., Seenipandian, S., Balakrishnan, S., Raj, A. P. M. S., Sugiyama, H., Pandian, G. N., & Sivasubramaniam, S. (2023) · Gene Reports · doi:10.1016/j.genrep.2023.101774

Integrated analysis of robust sex-biased gene signatures in human brain.Preprint

Wapeesittipan, P., & Joshi, A. (2023) · Research Square · doi:10.21203/rs.3.rs-2095158/v1

Genetic associations of dimensional autistic phenotypesPreprint

Eriksson, T., Nakamori, C., & Iwamoto, K. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.07.18.549458

Syndromic Forms of Children’s Mental Development Disorders

Voinova, V. Y., Mhanni Aizeddin, A., Grosnova, O. S., & Викторович, Б. С. (2023) · Research-to-Practice Conference with International Participation "The Value of Everyone. The Life of a Person with Mental Disorder: Support, Life Arrangements, Social Integration" · doi:10.61157/978-5-4212-0676-7-2023-68-72

Mapping structural variants to rare disease genes using long-read whole genome sequencing and trait-relevant polygenic scoresPreprint

LeMaster, C., Schwendinger-Schreck, C., Ge, B., Cheung, W., McLennan, R., Johnston, J. J., Pastinen, T., & Smail, C. (2024) · medRxiv · doi:10.1101/2024.03.15.24304216

Murine glial protrusion transcripts predict localized Drosophila glial mRNAs involved in plasticity

Lee, Y. S., Gala, D., Kiourlappou, M., Olivares-Abril, J., Joha, J., Titlow, J., Teodoro, R. O., & Davis, I. (2024) · The Journal of Cell Biology · doi:10.1083/jcb.202306152

Dynamic Regulation OF The Chromatin Environment By Ash1L Modulates Human Neuronal Structure And FunctionPreprint

Jhanji, M., Ward, J. A., Leung, C. S., Krall, C. L., Ritchie, F. D., Guevara, A., Vestergaard, K., Yoon, B., Amin, K., Berto, S., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.02.625500

Epigenome-wide analysis reveals novel DNA methylation signatures significantly associated with the infant pupillary light reflex, a candidate intermediate phenotype for autismPreprint

Fish, L. A., Gliga, T., Gui, A., Ali, J. B., Mason, L., Johnson, M. H., Charman, T., Falck‐Ytter, T., Jones, E. J. H., Kandaswamy, R., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.10.632385

Long read whole genome sequencing-based discovery of complex structural variants and their role in aetiology of non-syndromic autism spectrum disorder in IndiaPreprint

Shah, J., Mondal, D., Jain, D. K., Mhatre, P., Patel, K., Iyer, A., Pandya, M., Menghani, B., Dave, G., Sheth, J. J., et al. (2025) · Research Square · doi:10.21203/rs.3.rs-5950423/v1

Narrow Versus Broad Phenotype Definitions Affect Genetic Analysis of Language More Than Other Broad Autism Phenotype TraitsPreprint

Xing, J., Lodi, M. K., Flax, J. F., Gwin, C., Wilson, S., Robinson, A. B., Buyske, S. G., Brzustowicz, L. M., & Bartlett, C. W. (2025) · Research Square · doi:10.21203/rs.3.rs-5457750/v1

A spermatogonial perspective on the expansion of the mammalian brainPreprint

Bush, S. J., & Goriely, A. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.15.676184

Exploring Single-Cell Gene Regulatory Dynamics in Rett SyndromePreprint

Rodriguez, S. G., Cartas‐Espinel, I., Villamán, C., Vidal, M., Pérez‐Palma, E., Enríquez, J. E., Martín, A. J. M., & Sáez, M. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.01.679774

Review of autism spectrum disorder databases for the identification of candidate genes

Martínez-Minguet, D., Noël, R., Alberto García, S., Costa, M., & Pastor, O. (2025) · Database · doi:10.1093/database/baaf067 · Cited by 1

Development of Cell-Permeable Adenylosuccinate Lyase Inhibitor

Hu, Y., & Lee, Y. (2025) · Methods and Protocols · doi:10.3390/mps8060126

Placental Alterations in Autism Spectrum Disorder: An In Silico Approach to circRNA–miRNA–mRNA Networks

Barbosa, B. B., Gottfried, C., & Santos‐Terra, J. (2025) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.70064

Additional file 2 of Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development

Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L., Adhikari, A., Wade, A. A., Fernandes, D., Lindenmaier, Z., Creighton, A., Nutter, L. M. J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14274167

Additional file 4 of Integrated analysis of robust sex-biased gene signatures in human brain

Wapeesittipan, P., & Joshi, A. (2024) · Figshare · doi:10.6084/m9.figshare.26591486

Additional file 3 of Integrated analysis of robust sex-biased gene signatures in human brain

Wapeesittipan, P., & Joshi, A. (2024) · Figshare · doi:10.6084/m9.figshare.26591483

Additional file 4 of Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development

Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L., Adhikari, A., Wade, A. A., Fernandes, D., Lindenmaier, Z., Creighton, A., Nutter, L. M. J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14274176

Additional file 1 of Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance

Yousefi, S., Deng, R., Lanko, K., Salsench, E. M., Nikoncuk, A., van der Linde, H. C., Perenthaler, E., van Ham, T. J., Mulugeta, E., & Barakat, T. S. (2021) · Figshare · doi:10.6084/m9.figshare.16829134

Additional file 1 of Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes

Mordaunt, C. E., Jianu, J. M., Laufer, B. I., Zhu, Y., Hwang, H., Dunaway, K. W., Bakulski, K. M., Feinberg, J. I., Volk, H. E., Lyall, K., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13093822

Additional file 3 of Characterization of cell-cell communication in autistic brains with single-cell transcriptomes

Astorkia, M., Lachman, H. M., & Zheng, D. (2022) · Figshare · doi:10.6084/m9.figshare.19695935

Additional file 1 of Integrated analysis of robust sex-biased gene signatures in human brain

Wapeesittipan, P., & Joshi, A. (2024) · Figshare · doi:10.6084/m9.figshare.26591477

Additional file 3 of Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development

Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L., Adhikari, A., Wade, A. A., Fernandes, D., Lindenmaier, Z., Creighton, A., Nutter, L. M. J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14274173

Additional file 2 of Integrated analysis of robust sex-biased gene signatures in human brain

Wapeesittipan, P., & Joshi, A. (2024) · Figshare · doi:10.6084/m9.figshare.26591480

Molecular Interactions of Chd8 in Mouse Brain Highlights a Role in Chromatin-Associated RNA ProcessingPreprint

Smith, E., Canales, C. P., Kenaston, M. W., Seban, N., Wade, A. A., Fenton, E., Ardekani, C., Lozano, S., Chu, N. C., Perla, D., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.2139/ssrn.5871048

Epigenome-wide analysis identifies DNA methylation signatures associated with the infant pupillary light reflex, a candidate intermediate phenotype for autism

Fish, L. A., Gliga, T., Gui, A., Ali, J. B., Mason, L., Johnson, M. H., Charman, T., Falck‐Ytter, T., Jones, E. J. H., Kandaswamy, R., et al. (2026) · Scientific Reports · doi:10.1038/s41598-025-31651-5

Aberrant calcium signaling and neuronal activity in the L271H CACNA1D (Cav1.3) iPSC model of neurodevelopmental disease

Tisch, M., Geisler, S. M., Gabassi, E., Schlemmer, Q., Lechner, M., Ulz, J.-A., Cubero, M. S., Gaetano, L. D., Spathopoulou, A., Striessnig, J., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-025-03429-8 · Cited by 2

Dual Transcriptomic and Epigenomic Signatures of THC Exposure in Human Prefrontal Cortex DevelopmentPreprint

Ofria, L. D., Sosnowski, D. W., Pantula, A., Joshi, K. G., Maher, B. S., & Kathuria, A. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.01.08.698442

Narrow Versus Broad Phenotype Definitions Affect Genetic Analysis of Language More than Other Broad Autism Phenotype Traits

Xing, J., Lodi, M. K., Flax, J., Gwin, C., Wilson, S., Robinson, A., Buyske, S. G., Brzustowicz, L., & Bartlett, C. W. (2026) · Genes · doi:10.3390/genes17020125

CLinNET: An Interpretable and Uncertainty‐Aware Deep Learning Framework for Multi‐Modal Clinical Genomics

Bakhshayeshi, I., Hosseini, M. M., Argha, A., Zahedi, R., Lovell, N. H., & Alinejad-Rokny, H. (2026) · Advanced Science · doi:10.1002/advs.202512842

Dlgap2 deficiency disrupts synaptic homeostasis by promoting ubiquitin-mediated Itsn1 degradation in a valproic acid-induced autism-like model

Guo, X., Zhang, L., & Zhuang, K. (2026) · Scientific Reports · doi:10.1038/s41598-026-39099-x

A Protective Super‐Enhancer Variant Regulating SLC7A7 Modulates Autism Spectrum Disorder Risk: A Cross‐Population Study

Zhang, J., Hou, F., Chen, Y., Chen, Q., Xiang, Z., Wang, T., Liang, X., Li, L., & Song, R. (2026) · Autism Research · doi:10.1002/aur.70201

Butyrate rescues chlorpyrifos-induced social deficits through inhibition of class I histone deacetylasesPreprint

Diaz, L., Kong, A. X., Zhang, P., Jinhua, C. H. I., Pham, K. T., Johnson, M., Eno, A. F., Douglas, I., Mao, Y., MacDonald, J. K., et al. (2026) · eLife · doi:10.7554/elife.110280.1

Butyrate rescues chlorpyrifos-induced social deficits through inhibition of class I histone deacetylasesPreprint

Diaz, L., Kong, A. X., Zhang, P., Jinhua, C. H. I., Pham, K. T., Johnson, M., Eno, A. F., Douglas, I., Mao, Y., MacDonald, J. K., et al. (2026) · eLife · doi:10.7554/elife.110280

Single-Cell Gene Module Inference Reveals Alternative Polyadenylation Dynamics Associated with Autism

Liu, F., Yang, H., & Wu, X. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27062849

Linking Genetic Risk to Disease-Relevant Cellular States via Metacell-Informed Modeling with ICePopPreprint

Yuan, H., Mandava, A., Samart, K., Ganz, J., & Krishnan, A. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.01.715877

Etude de la contribution de l'hormone adipocytaire leptine dans la pathogenèse du syndrome de Rett

Belaïdouni, Y. (2022) · theses.fr (ABES) · doi:10.70675/f69d2875zfa9fz4465z917eza8e7b93935c6

Dysfonctionnement des interneurones cholinergiques du striatum comme substrat neuronal dans les troubles du spectre autistique en lien avec la délétion du gène Tshz3

Molitor, J. (2022) · theses.fr (ABES) · doi:10.70675/ab255e16z655ez4821za484z23598ff51ed1

Fixed human pangenome sequences reveal origins of common human traitsPreprint

Goh, C.-S., Davenport, M., Lee, C., & Jarvis, E. D. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.30.722098

Genome-Wide DNA Methylation Profiling of Peripheral Blood Mononuclear Cells Reveals Epigenetic Signatures in Autism Spectrum Disorder

Saeliw, T., Yuwattana, W., Poolcharoen, C., van Erp, M. L., Kanlayaprasit, S., Vanwong, N., Hu, V. W., Trairatvorakul, P., Chonchaiya, W., & Sarachana, T. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27104161

Aberrant protein S-nitrosylation disrupts axonal development and metabolic homeostasis in a Cntnap2 mouse model of autism

Kartawy, M., Ojha, S. K., Nimgampalle, M., & Amal, H. (2026) · Redox Biology · doi:10.1016/j.redox.2026.104234

Genomic, Transcriptomic, and Regulomic Analyses Do Not Support Profound Autism as a Distinct Biological CategoryPreprint

Eicher, T., Ne’eman, A., & Quackenbush, J. F. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.01.729392 · Cited by 1

Haplotype-resolved methylomes reveal parent-of-origin DNA methylation imbalance in autism spectrum disorder

Xia, L., Guo, H., Liu, R., Ren, X., Han, S., Huang, X., Peng, Y. B., Zhu, Y., Huang, Y., Jiang, Z., et al. (2026) · Science Advances · doi:10.1126/sciadv.aee4069

MECP2 -mutant marmosets exhibit primate-specific phenotypes of Rett syndromePreprint

Kishi, N., Okahara, J., Sato, K., Yoshimaru, D., Kurotaki, Y., Onishi, K., Sanosaka, T., Henry, R., Ito, T., Okuno, M., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.06.26.734672 · Cited by 1

miR4ASD: A Database of Human microRNAs Associated with Autism Spectrum Disorder

Marques, A. R., Martiniano, H., Vilela, J. E. R., & Vicente, A. M. (2026) · Current Issues in Molecular Biology · doi:10.3390/cimb48101044

Esculetin ameliorates autism-like behaviors in GABAergic neuron-specific Pax2 knockdown mice, accompanied by reduced Wnt/β-catenin signaling

Zhang, N., Xue, L., Chai, S., Wang, T., Jiang, Y., Lei, J., & Wei, H. (2026) · Neuroscience · doi:10.1016/j.neuroscience.2026.07.034

Genetic Heterogeneity in Autism Spectrum Disorder: Diagnostic Yield, Recurrent Genes, and Rare Variant-Phenotype Associations from Whole-Exome Sequencing

Gaouzi, Z., Spoto, G., Polito, F., Festali, R., Gasparo, I., Licitri, L., Mirabello, A. M., Romano, S., Macaione, V., Dini, N., et al. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27156901 · Cited by 1

Animal models of autism spectrum disorder: Bridging biology to behaviour

Olondo, P. M., & d’Exaerde, A. D. K. (2026) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.70465

Autism Spectrum Disorders: The Translational Landscape

State, M. W. (2026) · Springer eBooks · doi:10.1007/978-3-032-31497-0_2

Prenatal exposure to the plasticizer DEHP increases the likelihood of early-life autism and ADHD symptoms through epigenetic programming

Tanner, S., Eisner, A., Novakovic, B., Holland, L., Mansell, T., England-Mason, G., Merrill, S., Dewey, D., O’Hely, M., Symeonides, C., et al. (2026) · Med · doi:10.1016/j.medj.2026.101291 · Cited by 3

Drosophila melanogaster as a Model for Autism Spectrum Disorder: Insights into Lifelong Neuronal Vulnerability

Palacios-Muñoz, A. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27188129

From Signal to Memory: A Proposed Adaptive Hierarchy Linking Autism-Associated Genes to Sensory Homeostasis

Gargus, J. J. (2026) · Genes · doi:10.3390/genes17101273

PACS1 syndrome variant alters the proteomic landscape of developing cortical organoids

Gómez-Maqueo, X., Rylaarsdam, L. E., Woo, A., Schroder, A. L., Rakotomamonjy, J., Bossert, C. L., Smith, T. A., Ruiz, S., Gilardi, J., Klei, L., et al. (2026) · iScience · doi:10.1016/j.isci.2026.117566 · Cited by 1

NLGN3 autism variants have distinct functional impact on synapses and sleep behavior in Drosophila

Townsley, R., Andrews, J. C., Srivastav, S., Jangam, S. V., Hannan, S. B., Kanca, O., Marcogliese, P. C., Yamamoto, S., & Wangler, M. F. (2026) · PLoS Genetics · doi:10.1371/journal.pgen.1012341 · Cited by 2

Meta-Analysis of Genetic Associations Using Knowledge Representation

Herrera-Galeano, J. E. (2013) · doi:10.13021/mars/7636

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Feliciano, P., Daniels, A. M., Snyder, L. G., Beaumont, A. L., Camba, A., Esler, A., Gulsrud, A., Mason, A., Gutierrez, A., Nicholson, A. G., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.01.015 · Cited by 462

The Simons Simplex Collection: a resource for identification of autism genetic risk factors

Fischbach, G. D., & Lord, C. (2010) · Neuron · doi:10.1016/j.neuron.2010.10.006 · Cited by 725

SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

Abrahams, B. S., Arking, D. E., Campbell, D. B., Mefford, H. C., Morrow, E. M., Weiss, L. A., Menashe, I., Wadkins, T., Banerjee-Basu, S., & Packer, A. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-36 · Cited by 873

SFARI Base: An efficacious, agile disease-specific repository promotes advances in autism research.

Rozenblit, L., Voccola, D., Sinanis, N., Johnson, S. B., & Julie, H. (2013) · Figshare · doi:10.6084/m9.figshare.730630

Simons Foundation

(2020) · Palgrave Macmillan UK eBooks · doi:10.1057/978-1-349-95988-4_100304