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

Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia

Shah, S., Sarasua, S. M., Boccuto, L., Dean, B. C., & Wang, L. (2023) · Genes · doi:10.3390/genes14111998 · Cited by 6

High-throughput sequencing of autism spectrum disorders comes of age

Wang, M., Fan, X., Wang, T., & Wu, J. (2013) · Genetics Research · doi:10.1017/s0016672313000153 · Cited by 6

The Role of Copy Number Variations and FHIT Gene on Phenotypic Characteristics of Cases Diagnosed with Autism Spectrum Disorder

Ünsel‐Bolat, G., & Bolat, H. (2020) · Molecular Syndromology · doi:10.1159/000512171 · Cited by 6

An atlas of expressed transcripts in the prenatal and postnatal human cortexPreprint

Bamford, R. A., Leung, S. K., Chundru, V. K., Jeffries, A. R., Davies, J. P., Franklin, A., Chen, X., McQuillin, A., Bass, N. J., Walker, E., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.05.24.595768 · Cited by 7

Effects of maternal edible THC consumption on offspring lung growth and function in a rhesus macaque model

Shorey‐Kendrick, L. E., Crosland, A., Schabel, M. C., Messaoudi, I., Guo, M., Drake, M. G., Nie, Z., Edenfield, R. C., Cinco, I., Davies, M. H., et al. (2025) · American Journal of Physiology-Lung Cellular and Molecular Physiology · doi:10.1152/ajplung.00360.2024 · Cited by 5

Presymptomatic Biological, Structural, and Functional Diagnostic Biomarkers of Autism Spectrum Disorder

Wang, B. M., Mills, Z., Jones, H. F., Montgomery, J. M., & Lee, K. Y. (2025) · Journal of Neurochemistry · doi:10.1111/jnc.70088 · Cited by 7

An epigenome-wide association study in the case-control study to explore early development identifies differential DNA methylation near ZFP57 as associated with autistic traits

Howerton, E. M., Morrill, V. N., Schrott, R., Daniels, J. A., Song, A., Benke, K. S., Volk, H. E., Farzadegan, H., Alexander, A. A., Tapia, A. L., et al. (2025) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-025-09637-1 · Cited by 5

Risk Variants in the Exomes of Children With Critical Illness

Motelow, J. E., Lippa, N. C., Hostyk, J. A., Feldman, E. S., Nelligan, M., Ren, Z., Alkelai, A., Milner, J. D., Gharavi, A. G., Tang, Y., et al. (2022) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.39122 · Cited by 5

Cerebellar phenotypes in germline PTEN mutation carriers

Gambini, D., Ferrero, S., Bulfamante, G., Pisani, L., Corbo, M., & Kuhn, E. (2024) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12970 · Cited by 5

Mutations in genes related to myocyte contraction and ventricular septum development in non-syndromic tetralogy of Fallot

Harvey, D. C., Verma, R., Sedaghat, B., Hjelm, B. E., Morton, S. U., Seidman, J. G., & Kumar, S. R. (2023) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2023.1249605 · Cited by 5

Modular Splicing Is Linked to Evolution in the Synapse-Specificity Molecule Kirrel3

Tränkner, D., Shennib, O., Johnson, A., Weinbrom, A., Taylor, M. R., & Williams, M. E. (2023) · eNeuro · doi:10.1523/eneuro.0253-23.2023 · Cited by 5

Toward a Pathway-Driven Clinical-Molecular Framework for Classifying Autism Spectrum Disorders

Ziats, C. A., Rennert, O. M., & Ziats, M. N. (2019) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2019.05.004 · Cited by 5

Meta-analysis of whole-transcriptome data for prediction of novel genes associated with autism spectrum disorder

Le, D., & Van, N. T. P. (2017) · International Conference Computational Systems-Biology and Bioinformatics · doi:10.1145/3156346.3156357 · Cited by 5

Big data approaches to develop a comprehensive and accurate tool aimed at improving autism spectrum disorder diagnosis and subtype stratification

Chen, T., Froehlich, T. E., Li, T., & Lu, L. J. (2020) · Library Hi Tech · doi:10.1108/lht-08-2019-0175 · Cited by 5

Paternal age affects offspring’s behavior possibly via an epigenetic mechanism recruiting a transcriptional repressor RESTPreprint

Yoshizaki, K., Koike, T., Kimura, R., Kikkawa, T., Oki, S., Koike, K., Mochizuki, K., Inada, H., Kobayashi, H., Matsui, Y., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/550095 · Cited by 6

Decomposition of phenotypic heterogeneity in autism reveals distinct and coherent genetic programsPreprint

Litman, A., Sauerwald, N., Snyder, L. G., Foss‐Feig, J. H., Park, C. Y., Hao, Y., Dinstein, I., Theesfeld, C. L., & Troyanskaya, O. G. (2024) · medRxiv · doi:10.1101/2024.08.15.24312078 · Cited by 5

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

Diaz, L., Kong, A. X., Zhang, P., Chi, J., Pham, K. T., Johnson, M., Eno, A. F., Douglas, I., Mao, Y., MacDonald, J. W., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.19.683261 · Cited by 5

In vivo multiomic Perturb-seq with enhanced nuclear gRNA capturePreprint

Zheng, X., Li, J., Kim, K., Simmons, S., Zhao, Z., Tastemel, M., Huynh, N., Qiu, H., Ye, J., Whte, C. M., et al. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.03.15.711739 · Cited by 6

Implications of Cell Adhesion Molecules in Autism Spectrum Disorder Pathogenesis

Sindi, I. A. (2022) · Journal of Microscopy and Ultrastructure · doi:10.4103/jmau.jmau_15_22 · Cited by 4

Advances and Challenges in the Genetics of Autism

Campbell, D. B. (2010) · FOCUS The Journal of Lifelong Learning in Psychiatry · doi:10.1176/foc.8.3.foc339 · Cited by 4

A multimodal deep learning model to infer cell-type-specific functional gene networks

Afshar, S., Braun, P., Han, S., & Lin, Y. (2023) · BMC Bioinformatics · doi:10.1186/s12859-023-05146-x · Cited by 4

Best practices for the manual curation of intrinsically disordered proteins in DisProt

Quaglia, F., Chasapi, A., Nugnes, M. V., Aspromonte, M. C., Leonardi, E., Piovesan, D., & Tosatto, S. C. E. (2024) · Database · doi:10.1093/database/baae009 · Cited by 4

ASiDentify (ASiD): a machine learning model to predict new autism spectrum disorder risk genes

Rynard, K. M., Han, K., Wainberg, M., Calarco, J. A., Lee, H. O., Lipshitz, H. D., Smibert, C. A., & Tripathy, S. J. (2025) · Genetics · doi:10.1093/genetics/iyaf040 · Cited by 3

Deciphering cell-type-and temporally specific matrisome expression signatures in human cortical development and neurodevelopmental disorders via scRNA-seq meta-analysis

Gim, D. H., Assir, M. Z. K., Soper, O., Fowler, P., Morgan, M. D., Berg, D. A., & Kang, E. (2025) · Nature Communications · doi:10.1038/s41467-025-64381-3 · Cited by 4

In utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome

Reynisdottir, T., Anderson, K. J., Möller, K., Pétursson, S., Brinn, A., Franklin, K. P., Ouyang, J., Snorradóttir, Á. Ó., Lutz, C. M., Zuberi, A. R., et al. (2025) · JCI Insight · doi:10.1172/jci.insight.187039 · Cited by 3

Dysregulation of Amino Acid Transporters in a Rat Model of TLR7-Mediated Maternal Immune Activation

McColl, E. R., Henderson, J. T., & Piquette‐Miller, M. (2023) · Pharmaceutics · doi:10.3390/pharmaceutics15071857 · Cited by 3

Improving model performance of shortest‐path‐based centrality measures in network models through scale space

Mengüç, K., & Yilmaz, A. (2024) · Concurrency and Computation Practice and Experience · doi:10.1002/cpe.8082 · Cited by 3

A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets

Remori, V., Bondi, H., Airoldi, M., Pavinato, L., Borini, G., Carli, D., Brusco, A., & Fasano, M. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26052078 · Cited by 3

Magnetic Resonance Imaging as a Tool for the Study of Mouse Models of Autism

Ellegood, J. (2012) · Autism - Open Access · doi:10.4172/2165-7890.s1-008 · Cited by 3

Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb

Tan, P. P. C., Rogić, S., Zoubarev, A., McDonald, C., Lui, F., Charathsandran, G., Jacobson, M., Belmadani, M., Leong, J., Rossum, T. V., et al. (2016) · Human Mutation · doi:10.1002/humu.23011 · Cited by 3

Invertebrate Models of Synaptic Transmission in Autism Spectrum Disorders

Ruiz‐Rubio, M., Calahorro, F., & Gámez-del-Estal, M. M. (2014) · Neuromethods · doi:10.1007/978-1-4939-2250-5_6 · Cited by 3

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder

Ahram, D. F., Stambouli, D., Syrogianni, A., Al-Sarraj, Y. A., Gerou, S., El‐Shanti, H., & Kambouris, M. (2016) · Clinical Case Reports · doi:10.1002/ccr3.705 · Cited by 3

From bedside to bench and back: Translating ASD models

Drozd, H. P., Karathanasis, S. F., Molosh, A. I., Lukkes, J. L., Clapp, D. W., & Shekhar, A. (2018) · Progress in brain research · doi:10.1016/bs.pbr.2018.10.003 · Cited by 3

Defects of myelination are common pathophysiology in syndromic and idiopathic autism spectrum disorderPreprint

Phan, B. N., Page, S. C., Campbell, M. N., Bohlen, J. F., Thaxton, C., Simon, J. M., Burke, E. E., Shin, J. H., Kennedy, A. J., Sweatt, J. D., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/128124 · Cited by 3

When Genetic and Environmental Factors Meet in Modelling Autism

Pettie, M. A. (2020) · Open Access Victoria University of Wellington | Te Herenga Waka (Figshare) · doi:10.26686/wgtn.17148212.v1 · Cited by 4

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotationPreprint

Trost, B., Thiruvahindrapuram, B., Chan, A. J. S., Engchuan, W., Higginbotham, E. J., Howe, J., Loureiro, L. O., Reuter, M. S., Roshandel, D., Whitney, J., et al. (2022) · medRxiv · doi:10.1101/2022.05.05.22274031 · Cited by 3

Prenatal DEHP plastic chemical exposure increases the likelihood of child autism and ADHD symptoms through epigenetic programmingPreprint

Tanner, S., Eisner, A., Novakovic, B., Holland, L., Mansell, T., England-Mason, G., Merrill, S. M., Dewey, D., O’Hely, M., Symeonides, C., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.03.641339 · Cited by 3

MeCP2 binding and genome–lamina reorganization precede long gene activation during mouse corticogenesisPreprint

Rullens, P. M. J., de Vries, S. S., Lochs, S. J. A., Markodimitraki, C. M., Garner, K. M., Adolfs, Y., Mira-Bontenbal, H., Müller, M., Bugani, E., Tanenbaum, M. E., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.09.01.673434 · Cited by 3

Human-specific CCG-repeat insertion in the RBFOX1 promoter implicated in autism and speech enhances EGR1 -responsive activityPreprint

Lee, C., Davenport, M. H., & Jarvis, E. D. (2026) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.64898/2026.04.21.719679 · Cited by 3

Drug discovery strategy for TAK-418, a specific inhibitor of LSD1 enzyme activity, as a novel therapy for autism

Matsuda, S., Hattori, Y., & Kimura, H. (2024) · Advances in pharmacology · doi:10.1016/bs.apha.2024.10.017 · Cited by 2

Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder

Chen, C., Guo, S., Shi, Y., Gu, X., Xu, Z., Chen, Y., Gu, Y., Qin, N., Jiang, Y., Dai, J., et al. (2025) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2025.07.008 · Cited by 2

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

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) · BMC Medical Genomics · doi:10.1186/s12920-025-02204-6 · Cited by 3

Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)

Wu, R., Luo, X., Meng, Z., Tang, W., & Liang, L. (2025) · Frontiers in Neurology · doi:10.3389/fneur.2025.1574021 · Cited by 2

Neurometabolic profiles of autism spectrum disorder patients with genetic variants in specific neurotransmission and synaptic genes

Vilela, J. E. R., Pereira, A. C., Violante, I. R., Mouga, S., Rasga, C., Santos, J. X., Martiniano, H., Marques, A. R., Oliveira, G., Castelo-Branco, M. S., et al. (2025) · Scientific Reports · doi:10.1038/s41598-025-20090-x · Cited by 3

Single-cell profiling of DNA methylation in autism spectrum disorder prefrontal cortex reveals distinct regulatory and aging signatures

Eyring, K. W., Liu, C., Elhajjaoui, N., Abuhanna, K. D., Zhang, Y., von Behren, Z., Tsai, M. J., Eskin, E., Geschwind, D. H., & Luo, C. (2026) · Cell Genomics · doi:10.1016/j.xgen.2026.101278 · Cited by 6

Autism: Comparative Genomics and Interactomics

Barth, C., & Bishop, N. E. (2013) · Springer eBooks · doi:10.1007/978-1-4614-4788-7_173 · Cited by 2

Integrated in silico functional analysis predicts autism spectrum disorders to be burdened by deleterious variations within CHD8 core domains and its CHD7-binding motif

Murthy, A. S. N., Balakrishnan, S. T., & Ramachandra, N. B. (2022) · Network Modeling Analysis in Health Informatics and Bioinformatics · doi:10.1007/s13721-022-00377-z · Cited by 3

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

Anderson, K. J., Thorolfsdottir, E. T., Nodelman, I. M., Halldorsdottir, S. T., Benónísdóttir, S., Alghamdi, M. A., Almontashiri, N. A. M., Barry, B. J., Begemann, M., Britton, J. F., et al. (2026) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2026.08.005 · Cited by 2

A joint complex network and machine learning approach for the identification of discriminative gene communities in autistic brain

Lacalamita, A., Pantaleo, E., Monaco, A., Bellantuono, L., Fania, A., Rocca, M. L., Maggipinto, T., Tangaro, S., Amoroso, N., & Bellotti, R. (2025) · PLoS ONE · doi:10.1371/journal.pone.0334181 · Cited by 2

Investigating the Neurobiology of Abnormal Social Behaviors

Li, S., Williams, Z. M., & Báez-Mendoza, R. (2021) · Frontiers in Neural Circuits · doi:10.3389/fncir.2021.769314 · Cited by 1

Impairment of methylglyoxal detoxification systems causes mitochondrial dysfunction and schizophrenia-like behavioral deficitsPreprint

Toriumi, K., Berto, S., Koike, S., Usui, N., Dan, T., Suzuki, K., Miyashita, M., Horiuchi, Y., Yoshikawa, A., Sugaya, Y., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.07.08.192906 · Cited by 2

Proximity Analysis of Native Proteomes Reveals Interactomes Predictive of Phenotypic Modifiers of Autism and Related Neurodevelopmental ConditionsPreprint

Gao, Y., Trn, M., Shonai, D., Zhao, J., Soderblom, E. J., Garcia-Moreno, S. A., Gersbach, C. A., Wetsel, W. C., Dawson, G., Velmeshev, D., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.10.06.511211 · Cited by 2

KAT6A mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid modelPreprint

Nava, A. A., Jops, C. T., Vuong, C. K., Niles-Jensen, S. L., Bondhus, L., Ong, C. J., de la Torre-Ubieta, L., Gandal, M. J., & Arboleda, V. A. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.06.17.545322 · Cited by 2

A Single-Cell Atlas of DNA Methylation in Autism Spectrum Disorder Reveals Distinct Regulatory and Aging SignaturesPreprint

Eyring, K. W., Liu, C., Elhajjaoui, N., Abuhanna, K. D., Zhang, Y., von Behren, Z., Eskin, E., Geschwind, D. H., & Luo, C. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.17.660162 · Cited by 2

In Vivo Human Embryonic Spinal Cord Atlas Validates Stem Cell–Derived Human Dorsal Interneurons and Reveals ASD Spinal SignaturesPreprint

Gupta, S., Heinrichs, E., Rodriguez, C., Friedman, E., Gallardo, S., Demirjie, T., Panosian, T., Phan, K. D., Tahmasian, A., Verdin, Y., et al. (2025) · SSRN Electronic Journal · doi:10.64898/2025.12.22.696129 · Cited by 2

Etiologies underlying sex bias in autism spectrum disorder: a narrative review of preclinical rodent models

Lee, T., & Kim, E. (2024) · Ewha Medical Journal · doi:10.12771/emj.2024.e18 · Cited by 2

Gene expression differences in the olfactory bulb associated with differential social interactions and olfactory deficits in Pax6 heterozygous mice

Daems, C., Baz, E., D’Hooge, R., Callaerts‐Vegh, Z., & Callaerts, P. (2025) · Biology Open · doi:10.1242/bio.061647 · Cited by 1

Maternal immune activation disrupts epigenomic and functional maturation of cortical excitatory neurons

Lai, C.-Y., Arzavala, J., Pinto‐Duarte, A., Wang, S., Li, J., Liu, H., Osteen, J. K., Castanon, R., Nery, J. R., Powell, S. B., et al. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03856-1 · Cited by 2

Identification of LRFN1 as a novel synaptopathy gene in a child with autism

Shah, J., Jain, D. K., Sheth, J., Sheth, F. J., Dave, G., & Sheth, H. J. (2025) · Discover Neuroscience · doi:10.1186/s13064-025-00207-8 · Cited by 2

Contrastive linear regression

Zhang, B., Nyquist, S. K., Jones, A., Engelhardt, B. E., & Li, D. (2025) · The Annals of Applied Statistics · doi:10.1214/24-aoas1977 · Cited by 3

Performance comparison of germline variant calling tools in sporadic disease cohorts

Song, Q., Zhai, J., Chen, C., Li, H., Cao, A., Yuan, B., & An, Y. (2025) · Molecular Genetics and Genomics · doi:10.1007/s00438-025-02292-0 · Cited by 1

Predicting the diagnostic efficacy of trio-based whole exome sequencing in children with low-function autism spectrum disorders: a multicenter study

Wu, R., Luo, X., He, Z., Meng, Z., Tang, W., & Liang, L. (2025) · Frontiers in Neurology · doi:10.3389/fneur.2025.1597588 · Cited by 1

Advanced Paternal Age Impacts Common Loci in the Sperm and Placenta DNA Methylomes

Barnwell, J., Rahimi, S., Jones, S. L., Chan, D., Martel, J., Abdessamie, S., Herba, C. M., Séguin, J. R., Fraser, W. D., Greenwood, C. M. T., et al. (2025) · Andrology · doi:10.1111/andr.70131 · Cited by 1

Genetics of Autism Spectrum Disorder underscores the role of altered spontaneous neuronal activity as a catalyst for the neurodevelopmental anomalies

Dey, S., & Das, A. (2026) · Brain Research · doi:10.1016/j.brainres.2026.150164 · Cited by 2

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin‐511 in Early Neurodevelopment

Raaz, C. V., Bruce, L., Ganapathiraju, M. K., Klein‐Seetharaman, J., Liu, L., Dinu, V., Chapi, M., Kim, E., Kim, Y., White, T., et al. (2026) · Case Reports in Genetics · doi:10.1155/crig/9927839 · Cited by 1

Cell-type-specific alternative splicing in the brain and kidney of a Setbp1 S858R Schinzel–Giedion syndrome mouse

Soelter, T. M., Jones, E. F., Howton, T. C., Crumley, A. B., Wilk, E. J., & Lasseigne, B. N. (2026) · Disease Models & Mechanisms · doi:10.1242/dmm.052402 · Cited by 1

Linking rare variants to cell-type function in profound autism with brain transcriptomics and foundation models

Dubuc, A., Renne, T., Huguet, G., Jacquemont, S., & Nowakowski, T. J. (2026) · Cell Genomics · doi:10.1016/j.xgen.2026.101192 · Cited by 1

Nitric oxide inhibition ameliorates cortical proteomic changes in the Cntnap2-/- and Shank3Δ4–22 mouse models of autism spectrum disorder

Bazbaz, W., Kartawy, M., Халиулин, И. Г., & Amal, H. (2026) · Molecular Autism · doi:10.1186/s13229-026-00716-1 · Cited by 1

Spatial architecture of autism pathogenesis reveals mosaic structural disarray during early development

Li, L., Saw, T. Y., Chou, N., Goh, J. L. J., Kwa, J. E., Chock, W. K., Singhal, V., Li, Z., Huang, M. J., Ng, H., et al. (2026) · Nature Communications · doi:10.1038/s41467-026-74320-5

The genetic orchestra of autism and its intersections with epilepsy, intellectual disability, and ADHD

Korkmaz, S., Agathe, J. D. S., Cliquet, F., Martin, L. C., Barthome, E., Fleury, M., Segers, J., Bonnot-Briey, S., de Puget, V. G., Zhou, Y., et al. (2026) · Biological Psychiatry · doi:10.1016/j.biopsych.2026.10.003 · Cited by 1

Intracellular Pathways Associated with the Etiology of Autism

Russo, A. J. (2017) · InTech eBooks · doi:10.5772/67206

Calculating genetic risk for dysfunction in pleiotropic biological processes using whole exome sequencing data

Veatch, O. J., Mazzotti, D. R., Schultz, R. T., Abel, T. G., Michaelson, J. J., Brodkin, E. S., Tunç, B., Assouline, S. G., Nickl‐Jockschat, T., Malow, B. A., et al. (2022) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-022-09448-8 · Cited by 1

Regulatory roles of rs2192932 and rs10487150 in autism spectrum disorder: insights from fine-mapping and cross-population validation

Zhao, S., Wang, H., Hou, F., Chen, Y., Zhu, K., Liu, R., Xiang, Z., Zhang, J., Liang, X., Li, L., et al. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf107 · Cited by 1

The contribution of common and rare genetic variation to emotional and behavioural symptoms in childhood and adolescence

Wootton, O., Wade, E. E., Malawsky, D. S., Koko, M., Huang, W., Huang, Q. Q., Warrier, V., Hurles, M. E., & Martin, H. C. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03851-6 · Cited by 2

Genetic studies of autism and autistic-like traits

Jönsson, L. (2015) · Gothenburg University Publications Electronic Archive (Gothenburg University) · Cited by 1

Autism Spectrum Disorder is burdened by severely pathogenic variations within core domains of CHD8 and its CHD7-binding motifPreprint

Ashitha, S. N. M., Balakrishnan, S., & Ramachandra, N. B. (2020) · doi:10.22541/au.159672670.04988762 · Cited by 1

SFARI Genes and where to find them; classification modelling to identify genes associated with Autism Spectrum Disorder from RNA-seq dataPreprint

Navarro, M., & Simpson, T. I. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.01.29.428754 · Cited by 2

Rare Maternally Inherited Coding Variants on Chromosome X Carry Predominantly Male Risk in Autism, Tourette Syndrome, and Attention-deficit/Hyperactivity DisorderPreprint

Wang, S., Wang, B. L., Drury, V., Drake, S., Sun, N., Alkhairo, H., Arbelaez, J., Duhn, C., Genetics), T. I. C. G. (., Bal, V. H., et al. (2022) · medRxiv · doi:10.1101/2022.09.22.22280248 · Cited by 1

In-utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndromePreprint

Reynisdottir, T., Anderson, K. J., Brinn, A., Franklin, K. P., Ouyang, J., Snorradóttir, Á. Ó., Lutz, C. M., Zuberi, A. R., DeLeon, V. B., & Bjornsson, H. T. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.07.19.604339 · Cited by 1

The intersection of inflammation and DNA damage as a novel axis underlying the pathogenesis of autism spectrum disordersPreprint

Jhanji, M., Krall, C. L., Guevara, A., Yoon, B., Sajish, M., Boccuto, L., & Lizarraga, S. B. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.11.627854 · Cited by 2

Long-term, cell type-specific effects of prenatal stress on dorsal striatum and relevant behaviors in micePreprint

Evans, M. M., Hing, B. W. Q., Weber, M. A., Maurer, S. V., Baig, A. I., Kim, G. S., Anema, S. L., Ellerbroek, R. M., Sivakumar, K., Michaelson, J. J., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.12.27.627207 · Cited by 1

Multiple Types of Context-Specific Brain Causal Regulatory Networks and their Applications to Autism Spectrum DisorderPreprint

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