Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders

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

TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival

Inoki, K., Zhu, T., & Guan, K.-L. (2003) · Cell · doi:10.1016/s0092-8674(03)00929-2 · Cited by 3,914

Human Protein Reference Database--2009 update

Prasad, T. S. K., Goel, R., Kandasamy, K., Keerthikumar, S., Kumar, S., Mathivanan, S., Telikicherla, D., Raju, R., Shafreen, R. B., Venugopal, A., et al. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn892 · Cited by 3,252

Towards a proteome-scale map of the human protein–protein interaction network

Rual, J.-F. M., Venkatesan, K., Hao, T., Hirozane-Kishikawa, T., Dricot, A., Li, N., Berriz, G. F., Gibbons, F. D., Dreze, M., Ayivi-Guedehoussou, N., et al. (2005) · Nature · doi:10.1038/nature04209 · Cited by 2,904

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

The Wellcome Trust Case Control Consortium, U.K.

Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714

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

Origins and functional impact of copy number variation in the human genome

The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970

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

Chromatin regulators, phenotypic robustness, and autism risk

Suliman, R., Ben-David, E., & Shifman, S. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00081 · Cited by 28

Emerging proteomic approaches to identify the underlying pathophysiology of neurodevelopmental and neurodegenerative disorders

Murtaza, N., Uy, J. A., & Singh, K. K. (2020) · Molecular Autism · doi:10.1186/s13229-020-00334-5 · Cited by 31

The autism puzzle: challenging a mechanistic model on conceptual and historical grounds

Verhoeff, B. (2013) · Philosophy Ethics and Humanities in Medicine · doi:10.1186/1747-5341-8-17 · Cited by 31

Insights into the Genetic Foundations of Human Communication

Graham, S. A., Deriziotis, P., & Fisher, S. E. (2015) · Neuropsychology Review · doi:10.1007/s11065-014-9277-2 · Cited by 28

Functional characterization of rare FOXP2 variants in neurodevelopmental disorder

Estruch, S. B., Graham, S. A., Chinnappa, S. M., Deriziotis, P., & Fisher, S. E. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9177-2 · Cited by 28

Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder

Rankine, J., Li, E., Lurie, S., Rieger, H., Fourie, E., Siper, P. M., Wang, A. T., Buxbaum, J. D., & Kolevzon, A. (2017) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-017-3082-8 · Cited by 25

Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

Campbell, I. M., Rao, M., Arredondo, S. D., Lalani, S. R., Xia, Z., Kang, S.-H. L., Bi, W., Breman, A. M., Smith, J. L., Bacino, C. A., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003797 · Cited by 26

Hyperactive mTOR signals in the proopiomelanocortin-expressing hippocampal neurons cause age-dependent epilepsy and premature death in mice

Matsushita, Y., Sakai, Y., Shimmura, M., Shigeto, H., Nishio, M., Akamine, S., Sanefuji, M., Ishizaki, Y., Torisu, H., Nakabeppu, Y., et al. (2016) · Scientific Reports · doi:10.1038/srep22991 · Cited by 26

Filamin, a synaptic organizer in Drosophila, determines glutamate receptor composition and membrane growth

Lee, G., & Schwarz, T. L. (2016) · eLife · doi:10.7554/elife.19991 · Cited by 26

Karyopherin α 3 and Karyopherin α 4 Proteins Mediate the Nuclear Import of Methyl-CpG Binding Protein 2

Baker, S. A., Lombardi, L. M., & Zoghbi, H. Y. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.658104 · Cited by 25

Modeling the autistic cell: iPSCs recapitulate developmental principles of syndromic and nonsyndromic ASD

Ben‐Reuven, L., & Reiner, O. (2016) · Development Growth & Differentiation · doi:10.1111/dgd.12280 · Cited by 26

Proteomic Analysis of Postsynaptic Protein Complexes Underlying Neuronal Plasticity

Baucum, A. J. (2017) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.7b00008 · Cited by 25

Mutations in TBR1 gene leads to cortical malformations and intellectual disability

Végas, N., Cavallin, M., Kleefstra, T., de Boer, L., Philbert, M., Maillard, C., Boddaert, N., Münnich, A., Hubert, L., Béry, A., et al. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.09.012 · Cited by 25

The role of nutraceuticals in the management of autism

Alanazi, A. (2012) · Saudi Pharmaceutical Journal · doi:10.1016/j.jsps.2012.10.001 · Cited by 26

Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control

Clarke, R. A., & Eapen, V. (2014) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2014.00052 · Cited by 24

Effect of disease-associated SLC9A9 mutations on protein–protein interaction networks: implications for molecular mechanisms for ADHD and autism

Zhang‐James, Y., Vaudel, M., Mjaavatten, O., Berven, F. S., Haavik, J., & Faraone, S. V. (2019) · ADHD Attention Deficit and Hyperactivity Disorders · doi:10.1007/s12402-018-0281-x · Cited by 26

Molecular network analysis enhances understanding of the biology of mental disorders

Grennan, K. S., Chen, C., Gershon, E. S., & Liu, C. (2014) · BioEssays · doi:10.1002/bies.201300147 · Cited by 24

A Foundational Atlas of Autism Protein Interactions Reveals Molecular ConvergencePreprint

Wang, B., Vartak, R. S., Zaltsman, Y., Naing, Z. Z. C., Hennick, K. M., Polacco, B. J., Bashir, A., Eckhardt, M., Bouhaddou, M., Xu, J., et al. (2023) · SSRN Electronic Journal · doi:10.1101/2023.12.03.569805 · Cited by 26

Reciprocal Relationship between Head Size, an Autism Endophenotype, and Gene Dosage at 19p13.12 Points to AKAP8 and AKAP8L

Nebel, R. A., Kirschen, J., Cai, J., Woo, Y. J., Cherian, K. A., & Abrahams, B. S. (2015) · PLoS ONE · doi:10.1371/journal.pone.0129270 · Cited by 23

Novel Interactive Partners of Neuroligin 3: New Aspects for Pathogenesis of Autism

Shen, C., Huo, L.-R., Zhao, X., Wang, P., & Zhong, N. (2014) · Journal of Molecular Neuroscience · doi:10.1007/s12031-014-0470-9 · Cited by 23

Comparative RNA editing in autistic and neurotypical cerebella.

Eran, A., & Kunkel, L. M. (2013) · doi:10.15154/1163546 · Cited by 23

Bio-collections in autism research

Reilly, J., Gallagher, L., Chen, J. L., Leader, G., & Shen, S. (2017) · Molecular Autism · doi:10.1186/s13229-017-0154-8 · Cited by 23

Losing balance: Kainate receptors and psychiatric disorders comorbidities

Valbuena, S., & Lerma, J. (2021) · Neuropharmacology · doi:10.1016/j.neuropharm.2021.108558 · Cited by 25

Polycomb deficiency drives a FOXP2-high aggressive state targetable by epigenetic inhibitors

Chen, F., Byrd, A. L., Liu, J., Flight, R. M., DuCote, T. J., Naughton, K. J., Song, X., Edgin, A. R., Lukyanchuk, A., Dixon, D. T., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-35784-x · Cited by 21

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

Minocherhomji, S., Hansen, C., Kim, H., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, H., Doh, G. D., Møllgård, K., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu337 · Cited by 20

Increasing our understanding of human cognition through the study of fragile X syndrome

Cook, D., Nuro, E., & Murai, K. K. (2013) · Developmental Neurobiology · doi:10.1002/dneu.22096 · Cited by 22

The NSP3 protein of SARS-CoV-2 binds fragile X mental retardation proteins to disrupt UBAP2L interactions

Garvanska, D. H., Alvarado, R. E., Mundt, F., Lindqvist, R., Duel, J. K., Coscia, F., Nilsson, E., Lokugamage, K. G., Johnson, B. A., Plante, J. A., et al. (2024) · EMBO Reports · doi:10.1038/s44319-023-00043-z · Cited by 19

Advancing the discovery of medications for autism spectrum disorder using new technologies to reveal social brain circuitry in rodents

Kas, M. J., Modi, M. E., Saxe, M., & Smith, D. G. (2014) · Psychopharmacology · doi:10.1007/s00213-014-3464-y · Cited by 19

Regulation of Adult Neurogenesis by the Fragile X Family of RNA Binding Proteins

Patzlaff, N. E., Shen, M., & Zhao, X. (2017) · Brain Plasticity · doi:10.3233/bpl-170061 · Cited by 18

Protein Interaction Networks Reveal Novel Autism Risk Genes within GWAS Statistical Noise

Correia, C., Oliveira, G., & Vicente, A. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0112399 · Cited by 20

A Novel Hap1–Tsc1 Interaction Regulates Neuronal mTORC1 Signaling and Morphogenesis in the Brain

Mejia, L. A., Litterman, N. K., Ikeuchi, Y., de la Torre-Ubieta, L., Bennett, E. J., Zhang, C., Harper, J. W., & Bonni, A. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.2290-13.2013 · Cited by 18

Receptor Tyrosine Kinase MET Interactome and Neurodevelopmental Disorder Partners at the Developing Synapse

Xie, Z., Li, J., Baker, J. S., Eagleson, K. L., Coba, M. P., & Levitt, P. R. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.02.022 · Cited by 20

Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling

Kim, Y.-E., Kim, M., Kim, S., Lee, R. H., Ujihara, Y., Marquez-Wilkins, E. M., Jiang, Y., Yang, E., Kim, H., Lee, C., et al. (2025) · Nature Communications · doi:10.1038/s41467-025-56720-1 · Cited by 16

Searching the overlap between network modules with specific betweeness (S2B) and its application to cross-disease analysis

García‐Vaquero, M. L., Gama‐Carvalho, M., Rivas, J. D. L., & Pinto, F. R. (2018) · Scientific Reports · doi:10.1038/s41598-018-29990-7 · Cited by 16

Looking for prosocial genes: ITRAQ analysis of proteins involved in MDMA-induced sociability in mice

Kuteykin‐Teplyakov, K. B., & Maldonado, R. J. (2014) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2014.08.007 · Cited by 16

Shank is a dose-dependent regulator of Cav1 calcium current and CREB target expression

Pym, E. C. G., Sasidharan, N., Thompson-Peer, K. L., Simon, D. J., Anselmo, A. N., Sadreyev, R. I., Hall, Q., Nurrish, S., & Kaplan, J. M. (2017) · eLife · doi:10.7554/elife.18931 · Cited by 16

Filamin A in focus: unravelling the multifaceted roles of filamin A in neurodevelopment and neurological disorders

Zhang, L. (2025) · Brain · doi:10.1093/brain/awaf180 · Cited by 15

HMGCS2-Induced Autophagic Degradation of Tau Involves Ketone Body and ANKRD24

Hu, L.-T., Xie, X.-Y., Zhou, G.-F., Wen, Q.-X., Song, L., Luo, B., Deng, X.-J., Pan, Q.-L., & Chen, G.-J. (2023) · Journal of Alzheimer's Disease · doi:10.3233/jad-220640 · Cited by 14

Stabilizing autism: A Fleckian account of the rise of a neurodevelopmental spectrum disorder

Verhoeff, B. (2014) · Studies in History and Philosophy of Science Part C Studies in History and Philosophy of Biological and Biomedical Sciences · doi:10.1016/j.shpsc.2014.04.002 · Cited by 14

Strength of functional signature correlates with effect size in autism

Ballouz, S., & Gillis, J. (2017) · Genome Medicine · doi:10.1186/s13073-017-0455-8 · Cited by 14

Interactome Networks

Carvunis, A., Roth, F. P., Calderwood, M. A., Cusick, M. E., Superti‐Furga, G., & Vidal, M. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-385944-0.00003-4 · Cited by 12

LdIL-2 treatment in ASD: a novel immunotherapeutic approach targeting Th/Treg dysfunction and neuroinflammation

Li, M., Kui, X., Yang, S., Nie, Z., Chen, H., Yao, P., Xu, X., Shen, C., Li, Z., Zhao, H., et al. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03609-8 · Cited by 12

Generalized and social anxiety disorder interactomes show distinctive overlaps with striosome and matrix interactomes

Karunakaran, K. B., Amemori, S., Balakrishnan, N., Ganapathiraju, M. K., & Amemori, K. (2021) · Scientific Reports · doi:10.1038/s41598-021-97418-w · Cited by 11

Monoamine and genome-wide DNA methylation investigation in behavioral addiction

Asaoka, Y., Won, M., Morita, T., Ishikawa, E., Lee, Y., & Goto, Y. (2020) · Scientific Reports · doi:10.1038/s41598-020-68741-5 · Cited by 13

The emerging roles of Shank3 in cardiac function and dysfunction

Kim, Y., Ko, T. H., Jin, C., Zhang, Y., Kang, H. R., Ma, R., Li, H., Choi, J., & Han, K. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1191369 · Cited by 11

CTNNA3 discordant regulation of nested LRRTM3, implications for autism spectrum disorder and Tourette syndrome

Fang, Z., Eapen, V., & Clarke, R. A. (2016) · Meta Gene · doi:10.1016/j.mgene.2016.11.003 · Cited by 10

Emerging role of synaptic actin-regulatory pathway in the pathophysiology of mood disorders

Choi, S., & Han, K. (2015) · Animal Cells and Systems · doi:10.1080/19768354.2015.1086435 · Cited by 12

Patient-controlled encrypted genomic data: an approach to advance clinical genomics

Trakadis, Y. J. (2012) · BMC Medical Genomics · doi:10.1186/1755-8794-5-31 · Cited by 11

A synaptic molecular dependency network in knockdown of autism- and schizophrenia-associated genes revealed by multiplexed imaging

Falkovich, R., Danielson, E., de Arce, K. P., Wamhoff, E., Strother, J., Lapteva, A. P., Sheng, M., Cottrell, J. R., & Bathe, M. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112430 · Cited by 10

Homo cerevisiae—Leveraging Yeast for Investigating Protein–Protein Interactions and Their Role in Human Disease

Laval, F., Coppin, G., Twizere, J., & Vidal, M. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119179 · Cited by 10

Identifying diagnostically‐relevant resting state brain functional connectivity in the ventral posterior complex via genetic data mining in autism spectrum disorder

Baldwin, P. R., Curtis, K. N., Patriquin, M. A., Wolf, V. L., Viswanath, H., Shaw, C. A., Sakai, Y., & Salas, R. (2015) · Autism Research · doi:10.1002/aur.1559 · Cited by 12

Alternative splicing and gene co-expression network-based analysis of dizygotic twins with autism-spectrum disorder and their parents

Okay, K., Varış, P. Ü., Miral, S., Ekinci, B., Yaraş, T., Karakülah, G., & Oktay, Y. (2021) · Genomics · doi:10.1016/j.ygeno.2021.05.038 · Cited by 10

Shank promotes action potential repolarization by recruiting BK channels to calcium microdomains

Gao, L., Zhao, J., Ardiel, E., Hall, Q., Nurrish, S., & Kaplan, J. M. (2022) · eLife · doi:10.7554/elife.75140 · Cited by 10

Tissue-wide cell-specific proteogenomic modeling reveals novel candidate risk genes in autism spectrum disorders

Torshizi, A. D., & Wang, K. (2022) · npj Systems Biology and Applications · doi:10.1038/s41540-022-00243-8 · Cited by 10

Parkinson’s disease and schizophrenia interactomes contain temporally distinct gene clusters underlying comorbid mechanisms and unique disease processes

Karunakaran, K. B., Jain, S., Brahmachari, S. K., Balakrishnan, N., & Ganapathiraju, M. (2024) · Schizophrenia · doi:10.1038/s41537-024-00439-3 · Cited by 9

C18ORF32 modulates lipid droplet secretion via secretory autophagy and restrains hepatic steatosis in vivo

Kumar, A., Gupta, S. K., Mathuria, Y. P., & Ghosh, D. K. (2025) · Cell Communication and Signaling · doi:10.1186/s12964-025-02581-6 · Cited by 9

Thrombospondin1 mimics rapidly relieve depression via Shank3 dependent uncoupling between dopamine D1 and D2 receptors

Gao, S., Chen, J.-Q., Zhou, H.-Y., Luo, L., Zhang, B.-Y., Li, M., He, H., Chen, C., & Guo, Y. (2023) · iScience · doi:10.1016/j.isci.2023.106488 · Cited by 10

Single-molecule fluorescence in-situ hybridization reveals that human SHANK3 mRNA expression varies during development and in autism-associated SHANK3 heterozygosity

Taylor, S. E., Taylor, R. D., Price, J., & Andreae, L. C. (2018) · Stem Cell Research & Therapy · doi:10.1186/s13287-018-0957-3 · Cited by 10

Gene network analysis identifies dysregulated pathways in an autism spectrum disorder caused by mutations in Transcription Factor 4

de Carvalho, L. M., Carvalho, V. M. D. A., Camargo, A. P., & Papes, F. (2025) · Scientific Reports · doi:10.1038/s41598-025-89334-0 · Cited by 9

Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus

Sakai, Y., Ohkubo, K., Matsushita, Y., Akamine, S., Ishizaki, Y., Torisu, H., Ihara, K., Sanefuji, M., Kim, M., Lee, K., et al. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.06.009 · Cited by 9

Interactome Studies of Psychiatric Disorders

Park, D. I., & Turck, C. W. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-05542-4_8 · Cited by 8

Autism-Risk Gene necab2 Regulates Psychomotor and Social Behavior as a Neuronal Modulator of mGluR1 Signaling

Chen, Z., Long, H., Guo, J., Wang, Y., He, K., Tao, C., Li, X., Jiang, K., Guo, S., & ., Y. P. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.901682 · Cited by 9

Ataxin1L Is a Regulator of HSC Function Highlighting the Utility of Cross-Tissue Comparisons for Gene Discovery

Kahle, J. J., Souroullas, G. P., Yu, P., Zohren, F., Lee, Y., Shaw, C. A., Zoghbi, H. Y., & Goodell, M. A. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003359 · Cited by 7

Connecting Signaling Pathways Underlying Communication to ASD Vulnerability

Lepp, S., Anderson, A. G., & Konopka, G. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-418700-9.00004-6 · Cited by 8

An in-depth review of the function of RNA-binding protein FXR1 in neurodevelopment

Méndez-Albelo, N. M., Sandoval, S. O., Xu, Z., & Zhao, X. (2024) · Cell and Tissue Research · doi:10.1007/s00441-024-03912-8 · Cited by 9

Nitric oxide and peroxynitrite as new biomarkers for early diagnosis of autism

Khan, A. A., & Dewald, H. D. (2025) · Brain Research · doi:10.1016/j.brainres.2024.149438 · Cited by 7

The role of selected postsynaptic scaffolding proteins at glutamatergic synapses in autism-related animal models

Melišková, V., Havránek, T., Bačová, Z., & Bakoš, J. (2021) · Journal of Integrative Neuroscience · doi:10.31083/j.jin2004106 · Cited by 7

Fragile X Messenger Ribonucleoprotein Protein and Its Multifunctionality: From Cytosol to Nucleolus and Back

Taha, M. S., & Ahmadian, M. R. (2024) · Biomolecules · doi:10.3390/biom14040399 · Cited by 7

Clinical and Genetic Heterogeneity of Autism

Wang, Y., & Zhong, N. A. (2012) · InTech eBooks · doi:10.5772/48700 · Cited by 7

Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan

Perfilyeva, A. V., Беспалова, К., Perfilyeva, Y. V., Skvortsova, L., Musralina, L., Zhunussova, G., Khussainova, E., Iskakova, U., Bekmanov, B., & Djansugurova, L. (2022) · Disease Markers · doi:10.1155/2022/1509994 · Cited by 6

Epigenetic Regulation and Neurodevelopmental Disorders: From MeCP2 to the TCF20/PHF14 Complex

Dominguez, G., Wu, Y., & Zhou, J. (2024) · Genes · doi:10.3390/genes15121653 · Cited by 11

PSINDB: the postsynaptic protein–protein interaction database

Kálmán, Z. E., Dudola, D., Mészáros, B., Gáspári, Z., & Dobson, L. (2022) · Database · doi:10.1093/database/baac007 · 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

Process genes list: An approach to link genetics and human brain imaging

Poblete, G. F., Gosnell, S. N., Meyer, M. J., Fang, M. E., Nguyen, T., Patriquin, M. A., Nielsen, D. A., Kosten, T. R., & Salas, R. (2020) · Journal of Neuroscience Methods · doi:10.1016/j.jneumeth.2020.108695 · Cited by 6

Novel Protein–Protein Interactions Highlighting the Crosstalk between Hypoplastic Left Heart Syndrome, Ciliopathies and Neurodevelopmental Delays

Karunakaran, K. B., Gabriel, G. C., Balakrishnan, N., Lo, C. W. Y., & Ganapathiraju, M. K. (2022) · Genes · doi:10.3390/genes13040627 · Cited by 5

NECAB family of neuronal calcium-binding proteins in health and disease

Bueno, D., Schäfer, M. K. E., Wang, S., Schmeißer, M. J., & Methner, A. (2024) · Neural Regeneration Research · doi:10.4103/nrr.nrr-d-24-00094 · Cited by 5

EGR1 Regulates SHANK3 Transcription at Different Stages of Brain Development

Juan, C., Mao, Y., Han, X., Qian, H.-Y., & Chu, K. (2024) · Neuroscience · doi:10.1016/j.neuroscience.2024.01.006 · Cited by 4

Autism Spectrum Disorder and Atypical Brain Connectivity: Novel Insights from Brain Connectivity-Associated Genes by Combining Random Forest and Support Vector Machine Algorithm

Gelmez, P., Karakoc, T. E., & Ulucan, Ö. (2024) · OMICS A Journal of Integrative Biology · doi:10.1089/omi.2024.0167 · Cited by 4

Azetidine-2-Carboxylic Acid and Other Nonprotein Amino Acids in the Pathogenesis of Neurodevelopmental Disorders

Rubenstein, E. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-397267-5.00220-x · Cited by 4

NMDAR-mediated transcriptional control of gene expression during the development of medial ganglionic eminence-derived interneuronsPreprint

Mahadevan, V., Mitra, A., Zhang, Y., Yuan, X. Q., Peltekian, A., Chittajallu, R., Esnault, C., Maric, D., Rhodes, C. T., Pelkey, K. A., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.06.10.144295 · Cited by 4

Spatiotemporal expression patterns of anxiety disorder-associated genes

Karunakaran, K. B., & Amemori, K. (2023) · Translational Psychiatry · doi:10.1038/s41398-023-02693-y · Cited by 4

Homozygosity analysis in subjects with autistic spectrum disorder

Adi, A. H., TAWIL, B., ALDOSARI, M., Shinwari, J., Nester, M. J., Aldhalaan, H., Al-Shamrani, H., GHANNAM, M., Meyer, B. F., & Tassan, N. A. A. (2015) · Molecular Medicine Reports · doi:10.3892/mmr.2015.3663 · Cited by 3

Pharmacogenomics: A Promising Approach Towards Treatment of Autism

Wang, H. (2012) · Journal of Pharmacogenomics & Pharmacoproteomics · doi:10.4172/2153-0645.1000e110 · Cited by 3

Les comorbidités cliniques de l'autisme : une interface entre le syndrome autistique et ses causes

Guinchat, V. (2014) · theses.fr (ABES) · doi:10.70675/ab717410z7ca6z4d86za328z74a98ae3a09f · Cited by 3

Spatial and functional profiles distinguish target sets of Parkinson’s disease and antipsychotic drugs with different clinical effects

Karunakaran, K. B., Jain, S., Widera, D., & Cottrell, G. S. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03351-1 · Cited by 2

Converging models for autism

Casci, T. (2011) · Nature Reviews Genetics · doi:10.1038/nrg3022 · Cited by 2

SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders

Harony‐Nicolas, H., Bozdagi-Gunal, O., & Buxbaum, J. D. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00032-6 · Cited by 2

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Bicks, L. K., Eyring, K. W., & Geschwind, D. H. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100279 · Cited by 3

Copy Number Variation in Autism Spectrum Disorders

Marshall, C. R., Lionel, A. C., & Scherer, S. W. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00009-0 · Cited by 2

Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome

Sakai, Y., Souzaki, R., Yamamoto, H., Matsushita, Y., Nagata, H., Ishizaki, Y., Torisu, H., Oda, Y., Taguchi, T., Shaw, C. A., et al. (2014) · BMC Medical Genomics · doi:10.1186/1755-8794-7-19 · 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

SARS-CoV-2 hijacks fragile X mental retardation proteins for efficient infectionPreprint

Garvanska, D. H., Alvarado, R. E., Mundt, F. O., Nilsson, E., Duel, J. K., Coscia, F., Lindqvist, R., Lokugamage, K. G., Johnson, B. A., Plante, J. A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.09.01.555899 · Cited by 2

CHRM3基因与孤独症谱系障碍

Ju, X., Song, W., & Xu, J. (2018) · Advances in Psychological Science · doi:10.3724/sp.j.1042.2018.02141 · Cited by 1

Prenatal stress and cortical morphometric similarity network in offspring: Transcriptional signatures of associated genes

Zhang, J., Zhang, Y., Chen, Y., & Zhu, J. (2025) · Journal of Affective Disorders · doi:10.1016/j.jad.2025.119519 · Cited by 1

From Molecular Pathways to ASD Therapy: Insights from Syndromic Forms of Autism

Nicholls, L. E., Ramadas, R., & Voineagu, I. (2014) · WORLD SCIENTIFIC eBooks · doi:10.1142/9789814602167_0002 · Cited by 1

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

First-Tier Array CGH in Clinically Variable Entity Diagnosis: 22q13.3 Deletion Syndrome

Budișteanu, M., Ţuţulan-Cuniţă, A. C., Focșa, I. O., Papuc, S. M., & Arghir, A. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.89399 · Cited by 1

Azetidine-2-carboxylic acid and other nonprotein amino acids in the pathogenesis of neurodevelopmental disorders

Rubenstein, E. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814409-1.00002-1 · Cited by 1

Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints

Soorya, L. V., Brune, C. W., Farmer, C., Ocampo, E. V., Berger, N. I., Pearson, D. A., Busch, R. M., Klaas, P., Siper, P. M., Currans, K., et al. (2025) · American Journal on Intellectual and Developmental Disabilities · doi:10.1352/1944-7558-130.5.414 · Cited by 2

Dysfunction of D2 dopamine receptor expressing neurons underlies manic-like behaviors in mice modeling SHANK3 duplication disorderPreprint

Holder, J. L., Pang, K., Weïwer, M., Han, K., Wang, W., Estiphan, T., Vuocolo, B., Jaunarajs, K. L. E., Holson, E. B., Lewis, M., et al. (2021) · Research Square · doi:10.21203/rs.3.rs-646721/v1 · Cited by 1

Protein-Protein Interaction Landscape of Autism Spectrum Disorder (ASD)

Naing, Z. Z. C. (2022) · eScholarship (California Digital Library)

Identification of protein sub-networks implicated in Autism Spectrum Disorders

Correia, C., Diekmann, Y., Pereira‐Leal, J. B., & Vicente, A. M. (2011) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)

Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

Noh, H. J., Ponting, C. P., Boulding, H. C., Meader, S., Betancur, C., Buxbaum, J. D., Pinto, D., Marshall, C. R., Lionel, A. C., Scherer, S. W., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003523 · Cited by 54

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology

Wang, B., Vartak, R. S., Hennick, K. M., Zaltsman, Y., Naing, Z. Z. C., Polacco, B. J., Bashir, A., Eckhardt, M., Bouhaddou, M., Xu, J., et al. (2026) · Science · doi:10.1126/science.ady4523 · Cited by 6

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