Recessive gene disruptions in autism spectrum disorder
Open accessAbstract
Autism spectrum disorder (ASD) affects up to 1 in 59 individuals 1. Genome-wide association and large-scale sequencing studies strongly implicate both common variants 2-4 and rare de novo variants 5-10 in ASD. Recessive mutations have also been implicated 11-14 but their contribution remains less well defined. Here we demonstrate an excess of biallelic loss-of-function and damaging missense mutations in a large ASD cohort, corresponding to approximately 5% of total cases, including 10% of females, consistent with a female protective effect. We document biallelic disruption of known or emerging recessive neurodevelopmental genes (CA2, DDHD1, NSUN2, PAH, RARB, ROGDI, SLC1A1, USH2A) as well as other genes not previously implicated in ASD including FEV (FEV transcription factor, ETS family member), which encodes a key regulator of the serotonergic circuitry. Our data refine estimates of the contribution of recessive mutation to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition.
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Biallelic recessive mutations are descriptively more prevalent in autistic females than in autistic males.
“In addition to dominant mutations, biallelic recessive mutations are descriptively more prevalent in autistic females than in autistic males237.”
From Sex and gender in neurodevelopmental conditions (2023) · cites this paper as [237]
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,380 · see citing works
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works
Analysis of protein-coding genetic variation in 60,706 humans
Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works
Self-citationGlutamate neurotoxicity and diseases of the nervous system
Choi, D. W. (1988) · Neuron · doi:10.1016/0896-6273(88)90162-6 · Cited by 8,152 · see citing works
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601 · see citing works
Baio, J., Wiggins, L., Christensen, D. L., Maenner, M. J., Daniels, J., Warren, Z., Kurzius-Spencer, M., Zahorodny, W., Robinson, C., Rosenberg, et al. (2018) · MMWR. Surveillance Summaries · doi:10.15585/mmwr.ss6706a1 · Cited by 6,078 · see citing works
Browning, S. R., & Browning, B. L. (2007) · The American Journal of Human Genetics · doi:10.1086/521987 · Cited by 3,138 · see citing works
MutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975 · see citing works
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
Self-citationDe 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
Predicting the functional impact of protein mutations: application to cancer genomics
Reva, B. A., Antipin, Y., & Sander, C. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr407 · Cited by 1,987 · see citing works
Localization of neuronal and glial glutamate transporters
Rothstein, J. D., Martin, L. J., Levey, A. I., Dykes‐Hoberg, M., Jin, L., Wu, D. M., Nash, N. R., & Kuncl, R. W. (1994) · Neuron · doi:10.1016/0896-6273(94)90038-8 · Cited by 1,703 · see citing works
Association between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Self-citationDe 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
Naarden Braun, K. V., Lopez, M., White, T., et al. (2023) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/y3kk-5x30 · Cited by 1,381 · see citing works
Stenson, P. D., Mort, M. E., Ball, E. V., Evans, K., Hayden, M., Heywood, S., Hussain, M., Phillips, A. D., & Cooper, D. N. (2017) · Human Genetics · doi:10.1007/s00439-017-1779-6 · Cited by 1,348 · see citing works
Most genetic risk for autism resides with common variation
Gaugler, T., Klei, L., Sanders, S. J., Bodea, C. A., Goldberg, A. P., Lee, A. B., Mahajan, M., Manaa, D., Pawitan, Y., Reichert, J., et al. (2014) · Nature Genetics · doi:10.1038/ng.3039 · Cited by 1,239 · see citing works
Self-citationThe spectrum of behaviors influenced by serotonin
Lucki, I. (1998) · Biological Psychiatry · doi:10.1016/s0006-3223(98)00139-5 · Cited by 1,154 · see citing works
Identification of deleterious mutations within three human genomesPreprint
Chun, S., & Fay, J. C. (2009) · Genome Research · doi:10.1101/gr.092619.109 · Cited by 1,101 · see citing works
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954 · see citing works
Self-citationIdentifying autism loci and genes by tracing recent shared ancestry
Morrow, E. M., Yoo, S.-Y., Flavell, S. W., Kim, T.-K., Lin, Y., Hill, R. S., Mukaddes, N. M., Balkhy, S., Gascon, G., Hashmi, A., et al. (2008) · Science · doi:10.1126/science.1157657 · Cited by 737 · see citing works
Self-citationRare 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
Characterising and Predicting Haploinsufficiency in the Human Genome
Huang, N., Lee, I., Marcotte, E. M., & Hurles, M. E. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001154 · Cited by 649 · see citing works
Jacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., Beckmann, J. S., Rosenfeld, J. A., & Eichler, E. E. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.02.001 · Cited by 605 · see citing works
Excess of rare, inherited truncating mutations in autism
Krumm, N., Turner, T. N., Baker, C., Vives, L., Mohajeri, K., Witherspoon, K., Raja, A., Coe, B. P., Stessman, H. A., He, Z.-X., et al. (2015) · Nature Genetics · doi:10.1038/ng.3303 · Cited by 587 · see citing works
The serotonin system in autism spectrum disorder: From biomarker to animal models
Muller, C. L., Anacker, A. M. J., & Veenstra-VanderWeele, J. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2015.11.010 · Cited by 531 · 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
iPSYCH-Broad Autism Group, Weiner, D. J., Psychiatric Genomics Consortium Autism Group, Wigdor, E. M., Ripke, S., Walters, R. K., Kosmicki, J. A., Grove, J., Samocha, K. E., Goldstein, J. I., et al. (2017) · Nature Genetics · doi:10.1038/ng.3863 · Cited by 516 · see citing works
Self-citationHendricks, T. J., Fyodorov, D., Wegman, L. J., Lelutiu, N. B., Pehek, E. A., Yamamoto, B., Silver, J., Weeber, E., Sweatt, J., & Deneris, E. S. (2003) · Neuron · doi:10.1016/s0896-6273(02)01167-4 · Cited by 486 · see citing works
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron · doi:10.1016/j.neuron.2012.11.002 · Cited by 442 · see citing works
Self-citationThe role of de novo mutations in the genetics of autism spectrum disorders
Ronemus, M., Iossifov, I., Levy, D., & Wigler, M. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3585 · Cited by 390 · see citing works
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
iPSYCH-SSI-Broad Autism Group, Robinson, E. B., St Pourcain, B., Anttila, V., Kosmicki, J. A., Bulik-Sullivan, B., Grove, J., Maller, J., Samocha, K. E., Sanders, S. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3529 · Cited by 367 · see citing works
Self-citationPeghini, P., Janzen, J., & Stoffel, W. (1997) · The EMBO Journal · doi:10.1093/emboj/16.13.3822 · Cited by 343 · see citing works
Hendricks, T. J., Francis, N. J., Fyodorov, D. V., & Deneris, E. S. (1999) · Journal of Neuroscience · doi:10.1523/jneurosci.19-23-10348.1999 · Cited by 300 · see citing works
Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron · doi:10.1016/j.neuron.2012.12.029 · Cited by 266 · see citing works
Self-citationDiamond, J. S. (2001) · Journal of Neuroscience · doi:10.1523/jneurosci.21-21-08328.2001 · Cited by 255 · see citing works
Neuronal Glutamate Uptake Contributes to GABA Synthesis and Inhibitory Synaptic Strength
Mathews, G. C., & Diamond, J. S. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-06-02040.2003 · Cited by 204 · see citing works
Buxbaum, J. D., Daly, M. J., Devlin, B., Lehner, T., Roeder, K., & State, M. W. (2012) · Neuron · doi:10.1016/j.neuron.2012.12.008 · Cited by 185 · see citing works
Self-citationYu, T. W., Lim, E. T., Stevens, C. R., Gabriel, S., Chahrour, M. H., Ataman, B., Coulter, M. E., Hill, R. S., Schubert, C. R., Greenberg, M. E., et al. (2012) · Digital Access to Scholarship at Harvard (DASH) (Harvard University) · Cited by 179 · see citing works
Self-citationPet-1 is required across different stages of life to regulate serotonergic function
Liu, C., Maejima, T., Wyler, S. C., Casadesús, G., Herlitze, S., & Deneris, E. S. (2010) · Nature Neuroscience · doi:10.1038/nn.2623 · Cited by 178 · see citing works
Scimemi, A., Tian, H., & Diamond, J. S. (2009) · The Journal of Neuroscience · doi:10.1523/jneurosci.4845-09.2009 · Cited by 169 · see citing works
Bailey, C. G., Ryan, R. M., Thoeng, A. D., Ng, C., King, K., Vanslambrouck, J. M., Auray-Blais, C., Vandenberg, R. J., Bröer, S., & Rasko, J. E. J. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44474 · Cited by 162 · see citing works
Nieoullon, A. L., Canolle, B., Masmejean, F., Guillet, B. A., Pisano, P. S., & Lortet, S. (2006) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2006.03978.x · Cited by 155 · see citing works
Chahrour, M. H., Yu, T. W., Lim, E. T., Ataman, B., Coulter, M. E., Hill, R. S., Stevens, C. R., Schubert, C. R., ARRA Autism Sequencing Collaboration, Greenberg, M. E., et al. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002635 · Cited by 125 · see citing works
Self-citationThe Hippo Pathway Regulates Neuroblasts and Brain Size in Drosophila melanogaster
Poon, C. L. C., Mitchell, K. A., Kondo, S., Cheng, L. Y., & Harvey, K. F. (2016) · Current Biology · doi:10.1016/j.cub.2016.02.009 · Cited by 113 · see citing works
ERAP140, a Conserved Tissue-Specific Nuclear Receptor Coactivator
Shao, W., Halachmi, S., & Brown, M. A. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.10.3358-3372.2002 · Cited by 104 · see citing works
Enabling research with human embryonic and fetal tissue resources
Gerrelli, D., Lisgo, S., Copp, A. J., & Lindsay, S. (2015) · Development · doi:10.1242/dev.122820 · Cited by 89 · see citing works
Blaker, A. L., Gupta, S. K., McCammon, J. M., Rienzo, G. D., & Sive, H. L. (2012) · Disease Models & Mechanisms · doi:10.1242/dmm.009944 · Cited by 89 · see citing works
Changes in the expression of the glutamate transporter EAAT3/EAAC1 in health and disease
Bianchi, M., Bardelli, D., Chiu, M., & Bussolati, O. (2013) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-013-1484-0 · Cited by 82 · see citing works
Teijema, H. L., van Gelderen, H. H., Giesberts, M. A. H., & de Angulo, L. (1974) · Metabolism · doi:10.1016/0026-0495(74)90108-5 · Cited by 70 · see citing works
Kerwin, J. M., Yang, Y., Merchán, P., Sarma, S., Thompson, J., Wang, X., Sandoval, J. E., Puelles, L., Baldock, R., & Lindsay, S. (2010) · Journal of Anatomy · doi:10.1111/j.1469-7580.2010.01290.x · Cited by 52 · see citing works
Cao, H., Yin, X., Cao, Y., Jin, Y., Wang, S., Kong, Y., Chen, Y., Gao, J., Heller, S., & Xu, Z. (2013) · PLoS ONE · doi:10.1371/journal.pone.0056516 · Cited by 38 · see citing works
The Ets transcription factor Fev is specifically expressed in the human central serotonergic neurons
Maurer, P., Rorive, S., d’Exaerde, A. D. K., Schiffmann, S. N., Salmon, I. J., & de Launoit, Y. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2003.12.086 · Cited by 36 · see citing works
Stafford, M. M., Brown, M. N., Mishra, P., Stanwood, G. D., & Mathews, G. C. (2009) · Hippocampus · doi:10.1002/hipo.20600 · Cited by 31 · see citing works
Iyo, A. H., Porter, B., Deneris, E. S., & Austin, M. C. (2005) · Synapse · doi:10.1002/syn.20178 · Cited by 28 · see citing works
Dicarboxylic aminoaciduria associated with mental retardation
Swarna, M., Rao, D. N., & Reddy, P. P. (1989) · Human Genetics · doi:10.1007/bf00291178 · Cited by 27 · see citing works
Park, S. M., Littleton, J. T., Park, H. R., & Lee, J. (2016) · Experimental Neurobiology · doi:10.5607/en.2016.25.1.33 · Cited by 27 · see citing works
Lee, S., Park, S., & Zuo, Z. (2011) · Journal of Pharmacy and Pharmacology · doi:10.1111/j.2042-7158.2011.01404.x · Cited by 26 · see citing works
Ross, J. R., Porter, B. E., Buckley, P. T., Eberwine, J. H., & Robinson, M. B. (2010) · Neurochemistry International · doi:10.1016/j.neuint.2010.12.012 · Cited by 22 · see citing works
Cheng, Y.-Z., Eley, L., Hynes, A.-M., Overman, L. M., Simms, R. J., Barker, A., Dawe, H. R., Lindsay, S., & Sayer, J. A. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044975 · Cited by 16 · see citing works
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- [21]De Rubeis S Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209– 215, doi: 10.1038/nature13772 (2014). 25363760 PMC4402723 · DOI · Paper page
Cited by
Sorted by citations
Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01104-0 · Cited by 640 · see citing works
Self-citationGenomic architecture of autism from comprehensive whole-genome sequence annotation
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) · Cell · doi:10.1016/j.cell.2022.10.009 · Cited by 277 · see citing works
Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications
Jiang, C.-C., Lin, L., Long, S., Ke, X., Fukunaga, K., Lu, Y., & Han, F. (2022) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-022-01081-0 · Cited by 272 · see citing works
Sex and gender in neurodevelopmental conditions
Bölte, S., Neufeld, J., Marschik, P. B., Williams, Z. J., Gallagher, L., & Lai, M.-C. (2023) · Nature Reviews Neurology · doi:10.1038/s41582-023-00774-6 · Cited by 249 · see citing works
Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
Willsey, H. R., Willsey, A. J., Wang, B., & State, M. W. (2022) · Nature reviews. Neuroscience · doi:10.1038/s41583-022-00576-7 · Cited by 229 · see citing works
The RNA Methyltransferase NSUN2 and Its Potential Roles in Cancer
Chellamuthu, A., & Gray, S. G. (2020) · Cells · doi:10.3390/cells9081758 · Cited by 218 · see citing works
5-methylcytosine RNA methyltransferases and their potential roles in cancer
Li, M., Tao, Z., Zhao, Y., Li, L., Zheng, J., Li, Z., & Chen, X. (2022) · Journal of Translational Medicine · doi:10.1186/s12967-022-03427-2 · Cited by 205 · see citing works
Genetic contributions to autism spectrum disorder
Havdahl, A., Niarchou, M., Starnawska, A., Uddin, M., van der Merwe, C., & Warrier, V. (2021) · Psychological Medicine · doi:10.1017/s0033291721000192 · Cited by 193 · see citing works
RNA methylations in human cancers
Han, X., Wang, M., Zhao, Y., Yang, Y., & Yang, Y. (2020) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2020.11.007 · Cited by 159 · see citing works
The role of glutathione redox imbalance in autism spectrum disorder: A review
Bjørklund, G., Tinkov, A. A., Hosnedlová, B., Kizek, R., Ajsuvakova, O. P., Chirumbolo, S., Геннадиевна, С. М., Peana, M., Dadar, M., El-Ansary, A. K., et al. (2020) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2020.07.017 · Cited by 150 · see citing works
Rodin, R. E., Dou, Y.-M., Kwon, M., Sherman, M. A., D'Gama, A. M., Doan, R. N., Rento, L., Girskis, K. M., Bohrson, C. L., Kim, S., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-020-00765-6 · Cited by 112 · see citing works
Self-citationA single-cell transcriptomic and anatomic atlas of mouse dorsal raphe Pet1 neurons
Okaty, B. W., Sturrock, N., Lozoya, Y. E., Chang, Y., Senft, R. A., Lyon, K. A., Alekseyenko, O. V., & Dymecki, S. M. (2020) · eLife · doi:10.7554/elife.55523 · Cited by 117 · see citing works
Harris, H. K., Nakayama, T., Lai, J. F., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Suslovitch, V., Rodan, L. H., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01114-z · Cited by 85 · see citing works
Self-citationGenetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders
Bizzotto, S., & Walsh, C. A. (2022) · Nature reviews. Neuroscience · doi:10.1038/s41583-022-00572-x · Cited by 84 · see citing works
Self-citationIn-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy
Li, N., Zhou, P., Tang, H., He, L., Fang, X., Zhao, J., Wang, X., Qi, Y., Sun, C., Lin, Y., et al. (2021) · Brain · doi:10.1093/brain/awab209 · Cited by 84 · see citing works
Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies
Choi, L., & An, J. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.06.028 · Cited by 80 · see citing works
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) · Genome Medicine · doi:10.1186/s13073-020-00785-8 · Cited by 86 · see citing works
Zhang, L., Zhang, J., & Nie, Q. H. (2022) · Science Advances · doi:10.1126/sciadv.abl7393 · Cited by 74 · see citing works
Wenderski, W., Wang, L., Krokhotin, A., Walsh, J. J., Li, H., Shoji, H., Ghosh, S. G., George, R. D., Miller, E. L., Elias, L., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1908238117 · Cited by 60 · see citing works
Dougherty, J. D., Marrus, N. M., Maloney, S. E., Yip, B. H. K., Sandin, S., Turner, T. N., Selmanovic, D., Kroll, K. L., Gutmann, D. H., Constantino, J. N., et al. (2022) · Neuron · doi:10.1016/j.neuron.2022.06.020 · Cited by 61 · see citing works
Lowther, C., Valkanas, E., Giordano, J. L., Wang, H. Z., Currall, B., O’Keefe, K., Pierce‐Hoffman, E., Kurtas, N. E., Whelan, C. W., Hao, S. P., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.07.010 · Cited by 68 · see citing works
Wang, H., & Avillach, P. (2021) · JMIR Medical Informatics · doi:10.2196/24754 · Cited by 57 · see citing works
RetractedArteche‐López, A., Gómez-Rodríguez, M. J., Sánchez‐Calvín, M. T., Quesada‐Espinosa, J. F., Rosales, J. M. L., Milla, C. P., Gómez-Manjón, I., Mayoral, I. H., de la Fuente, R. P., Bustamante, A. D. D., et al. (2021) · Genes · doi:10.3390/genes12040560 · Cited by 53 · see citing works
Zbtb16 regulates social cognitive behaviors and neocortical development
Usui, N., Berto, S., Konishi, A., Kondo, M., Konopka, G., Matsuzaki, H., & Shimada, S. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01358-y · Cited by 51 · see citing works
Mechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders
Exposito-Alonso, D., & Rico, B. (2022) · Annual Review of Genetics · doi:10.1146/annurev-genet-072820-023642 · Cited by 49 · see citing works
Bhat, S., El‐Kasaby, A., Freissmuth, M., & Sučić, S. (2020) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2020.107785 · Cited by 53 · see citing works
Recent Advances in Understanding the Genetic Architecture of Autism
Dias, C., & Walsh, C. A. (2020) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-121219-082309 · Cited by 53 · see citing works
Self-citationCRISPR innovations in tissue engineering and gene editing
Razavi, Z.-S., Soltani, M., Souri, M., & van Wijnen, A. J. (2024) · Life Sciences · doi:10.1016/j.lfs.2024.123120 · Cited by 50 · see citing works
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain
Ganz, J., Maury, E. A., Becerra, B., Bizzotto, S., Doan, R. N., Kenny, C. J., Shin, T., Kim, J., Zhou, Z., Ligon, K. L., et al. (2022) · Cancer Discovery · doi:10.1158/2159-8290.cd-21-0245 · Cited by 48 · see citing works
Self-citationThe Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour
Castroflorio, E., den Hoed, J., Dolmatova, D. M., Finelli, M. J., Cebrian-Serrano, A., Corrochano, S., Bassett, A. R., Davies, B., & Oliver, P. L. (2020) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03721-6 · Cited by 50 · see citing works
Examining Sex Differences in Autism Heritability
Sandin, S., Yip, B. H. K., Yin, W., Weiss, L. A., Dougherty, J. D., Fass, S. B., Constantino, J. N., Hailin, Z., Turner, T. N., Marrus, N. M., et al. (2024) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2024.0525 · Cited by 48 · see citing works
A convergent molecular network underlying autism and congenital heart disease
Rosenthal, S. B., Willsey, H. R., Xu, Y., Yuan, M., Dea, J., Wang, S., Curtis, C., Sempou, E., Khokha, M. K., Chi, N. C., et al. (2021) · Cell Systems · doi:10.1016/j.cels.2021.07.009 · Cited by 41 · see citing works
Epitranscriptomic dynamics in brain development and disease
Shafik, A. M., Allen, E. G., & Jin, P. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01570-2 · Cited by 41 · see citing works
Tuncay, İ. O., Parmalee, N. L., Khalil, R., Kaur, K. J., Kumar, A., Jimale, M., Howe, J., Goodspeed, K., Evans, P., Alzghoul, L., et al. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00284-2 · Cited by 38 · see citing works
The evolutionary conserved TLDc domain defines a new class of (H+)V-ATPase interacting proteins
Eaton, A. F., Brown, D., & Merkulova, M. (2021) · Scientific Reports · doi:10.1038/s41598-021-01809-y · Cited by 37 · see citing works
Sheth, F. J., Shah, J., Jain, D. K., Shah, S. N., Patel, H., Patel, K., Solanki, D., Iyer, A. S., Menghani, B., Mhatre, P., et al. (2023) · BMC Neurology · doi:10.1186/s12883-023-03341-0 · Cited by 38 · see citing works
Distler, U., Schumann, S., Kesseler, H.-G., Pielot, R., Smalla, K., Sielaff, M., Schmeißer, M. J., & Tenzer, S. (2020) · Cells · doi:10.3390/cells9020313 · Cited by 35 · see citing works
Linking Autism Risk Genes to Disruption of Cortical Development
García-Forn, M., Boitnott, A., Akpinar, Z., & Rubeis, S. D. (2020) · Cells · doi:10.3390/cells9112500 · Cited by 32 · see citing works
Auditory hypersensitivity and processing deficits in a rat model of fragile X syndrome
Auerbach, B. D., Manohar, S., Radziwon, K. E., & Salvi, R. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105541 · Cited by 32 · see citing works
Lim, E. T., Chan, Y., Dawes, P., Guo, X., Erdin, S., Tai, D. J. C., Liu, S., Reichert, J. M., Burns, M. J., Chan, Y., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30968-3 · Cited by 33 · see citing works
Self-citationShin, T., Song, J. H. T., Kosicki, M., Kenny, C. J., Beck, S. G., Kelley, L., Antony, I., Qian, X., Bonacina, J., Papandile, F., et al. (2024) · Cell Genomics · doi:10.1016/j.xgen.2024.100609 · Cited by 32 · see citing works
Self-citationTCF20 dysfunction leads to cortical neurogenesis defects and autistic‐like behaviors in mice
Feng, C., Zhao, J., Ji, F., Su, L., Chen, Y., & Jiao, J. (2020) · EMBO Reports · doi:10.15252/embr.201949239 · Cited by 30 · see citing works
Biological implications of genetic variations in autism spectrum disorders from genomics studies
Zhang, Y., Liu, X., Guo, R., Xu, W., Guo, Q. J., Hao, C., Ni, X., & Li, W. (2021) · Bioscience Reports · doi:10.1042/bsr20210593 · Cited by 29 · see citing works
The Role of Genetics, Epigenetics, and the Environment in ASD: A Mini Review
Khogeer, A., Abumansour, I. S., & Mohammed, D. A. (2022) · Epigenomes · doi:10.3390/epigenomes6020015 · Cited by 29 · see citing works
V-ATPase Dysfunction in the Brain: Genetic Insights and Therapeutic Opportunities
Falace, A., Volpedo, G., Scala, M., Zara, F., Striano, P., & Fassio, A. (2024) · Cells · doi:10.3390/cells13171441 · Cited by 27 · see citing works
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders
Davidson, B. L., Gao, G., Berry‐Kravis, E., Bradbury, A. M., Bönnemann, C. G., Buxbaum, J. D., Corcoran, G. R., Gray, S. J., Gray‐Edwards, H. L., Kleiman, R. J., et al. (2022) · Molecular Therapy · doi:10.1016/j.ymthe.2022.05.014 · Cited by 26 · see citing works
Self-citationFunctional neurogenomics in autism spectrum disorders: A decade of progress
Bicks, L. K., & Geschwind, D. H. (2024) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2024.102858 · Cited by 29 · see citing works
Santos‐Terra, J., Deckmann, I., Fontes‐Dutra, M., Schwingel, G. B., Bambini-Júnior, V., & Gottfried, C. (2021) · International Journal of Developmental Neuroscience · doi:10.1002/jdn.10141 · Cited by 24 · see citing works
Mellone, S., Puricelli, C., Vurchio, D., Ronzani, S., Favini, S., Maruzzi, A., Peruzzi, C., Papa, A., Spano, A., Sirchia, F., et al. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.875182 · Cited by 24 · see citing works
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
Abdi, M., ALIYEV, E. E., Trost, B., Kohailan, M., Aamer, W., Syed, N., Shaath, R., Gandhi, G. D., Engchuan, W., Howe, J., et al. (2023) · Genome Medicine · doi:10.1186/s13073-023-01228-w · Cited by 24 · see citing works
Willbanks, A. R., Wood, S., & Cheng, J. X. (2021) · Genes · doi:10.3390/genes12050627 · Cited by 25 · see citing works
Wan, X., Perry, J. A., Zhang, H., Feng, J., Ryan, K. A., Hout, C. V. V., Reid, J. G., Overton, J. D., Baras, A., Han, Z., et al. (2021) · Journal of the American Society of Nephrology · doi:10.1681/asn.2020071030 · Cited by 22 · see citing works
Somatic Mosaicism and Autism Spectrum Disorder
D’Gama, A. M. (2021) · Genes · doi:10.3390/genes12111699 · Cited by 22 · see citing works
Dera, H. S. A. (2022) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2022.112688 · Cited by 23 · see citing works
Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD
Wang, S., Wang, B., Drury, V., Drake, S., Sun, N., Alkhairo, H., Arbelaez, J., Duhn, C., Genetics), T. I. C. G. (., Bromberg, Y., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-43776-0 · Cited by 26 · see citing works
Human V-ATPase function is positively and negatively regulated by TLDc proteins
Oot, R. A., & Wilkens, S. (2024) · Structure · doi:10.1016/j.str.2024.03.009 · Cited by 21 · see citing works
Wang, T., Zhang, Y., Liu, L., Wang, Y., Chen, H., Fan, T., Li, J., Xia, K., & Sun, Z. S. (2021) · Journal of genetics and genomics/Journal of Genetics and Genomics · doi:10.1016/j.jgg.2021.03.002 · Cited by 19 · see citing works
Haddad, B., Dankó, T., Chanda, S., Batista, P. J., Litzenburger, U. M., Lee, Q. Y., Ng, Y. H., Sebin, A., Chang, H. Y., Südhof, T. C., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-23614-x · Cited by 18 · see citing works
Recessive genetic contribution to congenital heart disease in 5,424 probands
Dong, W., Jin, S. C., Sierant, M. C., Lu, Z., Li, B., Lu, Q., Morton, S. U., Zhang, J., López‐Giráldez, F., Nelson-Williams, C. J., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2419992122 · Cited by 16 · see citing works
Spatial regulation of NSUN2-mediated tRNA m5C installation in cognitive function
Gonskikh, Y., Tirrito, C., Bommisetti, P., Mendoza-Figueroa, M. S., Stoute, J., Kim, J., Wang, Q., Song, Y., & Liu, K. F. (2024) · Nucleic Acids Research · doi:10.1093/nar/gkae1169 · Cited by 16 · see citing works
The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism
Nóbrega, I. D. S., Silva, A. L. T. E., Yokota-Moreno, B. Y., & Sertie, A. L. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25115816 · Cited by 18 · see citing works
Exome sequencing in a familial form of anorexia nervosa supports multigenic etiology
Bienvenu, T., Lebrun, N., Clarke, J., Duriez, P., Gorwood, P. A. P. M., & Ramoz, N. (2019) · Journal of Neural Transmission · doi:10.1007/s00702-019-02056-2 · Cited by 16 · see citing works
Alterations of presynaptic proteins in autism spectrum disorder
Yeo, X. Y., Lim, Y. T., Chae, W. R., Park, C., Park, H., & Jung, S. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.1062878 · Cited by 15 · see citing works
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta
Caron, V., Chassaing, N., Ragge, N., Boschann, F., Ngu, A. M.-H., Meloche, E., Chorfi, S., Lakhani, S. A., Ji, W., Steiner, L. A., et al. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100856 · Cited by 14 · see citing works
Mariano, V., Kanellopoulos, A. K., Ricci, C., Di Marino, D., Borrie, S. C., Dupraz, S., Bradke, F., Achsel, T., Legius, E., Odent, S., et al. (2024) · Biological Psychiatry · doi:10.1016/j.biopsych.2023.08.027 · Cited by 14 · see citing works
Zhang, X. L., Spencer, W. C., Tabuchi, N., Kitt, M. M., & Deneris, E. S. (2022) · eLife · doi:10.7554/elife.75970 · Cited by 14 · see citing works
Qian, K., Zeng, W.-X., Hao, Y., Zeng, X.-T., Liu, H., Li, L., Chen, L., Tian, F.-M., Chang, C. Y., Hall, Q., et al. (2021) · eLife · doi:10.7554/elife.67170 · Cited by 14 · see citing works
Mehinovic, E., Gray, T., Campbell, M. C., Ekholm, J. M., Wenger, A. M., Rowell, W. J., Grudo, A., Grimwood, J., Korlach, J., Gurnett, C. A., et al. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62743 · Cited by 14 · see citing works
Wang, L., Zhang, Y., Li, K., Wang, Z., Wang, X., Li, B., Zhao, G., Fang, Z., Ling, Z., Luo, T., et al. (2020) · Molecular Autism · doi:10.1186/s13229-020-00382-x · Cited by 12 · see citing works
Chung, D. D., Mahnke, A. H., Pinson, M. R., Salem, N. A., Lai, M. S., Collins, N. P., Hillhouse, A., & Miranda, R. C. (2023) · Biology of Sex Differences · doi:10.1186/s13293-023-00503-0 · Cited by 13 · see citing works
Wu, N., Wang, Y., Jia, J.-Y., Pan, Y.-H., & Yuan, X. (2021) · Neuroscience Bulletin · doi:10.1007/s12264-021-00770-0 · Cited by 13 · see citing works
The Landscape of Mutational Mosaicism in Autistic and Normal Human Cerebral CortexPreprint
Rodin, R. E., Dou, Y.-M., Kwon, M., Sherman, M. A., D'Gama, A. M., Doan, R. N., Rento, L., Girskis, K. M., Bohrson, C. L., Kim, S., et al. (2020) · bioRxiv · doi:10.1101/2020.02.11.944413 · Cited by 12 · see citing works
Self-citationThe genetics of autism spectrum disorder in an East African familial cohort
Tuncay, İ. O., DeVries, D., Gogate, A., Kaur, K. J., Kumar, A., Xing, C., Goodspeed, K., Seyoum-Tesfa, L., & Chahrour, M. H. (2023) · Cell Genomics · doi:10.1016/j.xgen.2023.100322 · Cited by 13 · see citing works
Gong, T., Lundholm, C., Lundström, S., Kuja-Halkola, R., Taylor, M. J., & Almqvist, C. (2022) · Psychological Medicine · doi:10.1017/s0033291721005158 · Cited by 12 · see citing works
Gong, T., Lundholm, C., Lundström, S., Kuja‐Halkola, R., Taylor, M. J., & (18687481), C. A. M. (2023) · Figshare · Cited by 12 · see citing works
Jasoliya, M., Gu, J., AlOlaby, R. R., Durbin-Johnson, B. P., Chedin, F. L., & Tassone, F. (2022) · Genes · doi:10.3390/genes13101795 · Cited by 12 · see citing works
Suratanee, A., & Plaimas, K. (2023) · Applied Sciences · doi:10.3390/app13158980 · Cited by 12 · see citing works
Mordaunt, C. E., Jianu, J. M., Laufer, B. I., Zhu, Y., Dunaway, K. W., Bakulski, K. M., Feinberg, J. I., Volk, H. E., Lyall, K., Croen, L., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/850529 · Cited by 12 · see citing works
Integrative proteomics and pharmacogenomics analysis of methylphenidate treatment response
da Silva, B. S., Leffa, D. T., Beys-da-Silva, W. O., Torres, I. L. S., Rovaris, D. L., Victor, M. M., Rohde, L. A., Mota, N. R., Oliveira, C. D., Berger, M., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0649-5 · Cited by 12 · see citing works
Lee, I., Koelliker, E. L., & Kong, S. W. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02179-3 · Cited by 11 · see citing works
Unveiling genetic variant-level biomarkers for aggressive prostate cancer
Taz, T. A., & Arslanturk, S. (2023) · Informatics in Medicine Unlocked · doi:10.1016/j.imu.2023.101410 · Cited by 10 · see citing works
Muhammad, N., Hussain, S. I., Rehman, Z. U., Khan, S. A., Jan, S., Khan, N., Muzammal, M., Abbasi, S. W., Kakar, N., Rehman, Z. U., et al. (2023) · Frontiers in Neurology · doi:10.3389/fneur.2023.1168307 · Cited by 10 · see citing works
Briand‐Mésange, F., Gennero, I., Salles, J., Trudel, S., Dahan, L., Ausseil, J., Payrastre, B., Salles, J., & Chap, H. (2024) · Molecules · doi:10.3390/molecules29153694 · Cited by 9 · see citing works
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Al-Mamari, W. S., Idris, A. B., Al‐Thihli, K., Abdulrahim, R., Jalees, S., Al-Jabri, M., Gabr, A. A., Murshedi, F. A., Kindy, A. A., Al-Hadabi, I., et al. (2021) · International Journal of Developmental Disabilities · doi:10.1080/20473869.2021.1937000 · Cited by 9 · see citing works
Identifying Rare Genetic Variants of Immune Mediators as Risk Factors for Autism Spectrum Disorder
Cai, C., Yin, Z., Liu, A., Wang, H., Zeng, S., Wang, Z., Qiu, H., Li, S., Zhou, J., & Wang, M. (2022) · Genes · doi:10.3390/genes13061098 · Cited by 9 · see citing works
Ellingford, R. A., Tojo, M., Basson, M. A., & Andreae, L. C. (2024) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.3c00690 · Cited by 8 · see citing works
Connecting phenotype to genotype: PheWAS-inspired analysis of autism spectrum disorder
Matta, J., Dobrino, D., Yeboah, D., Howard, S., EL‐Manzalawy, Y., & Obafemi-Ajayi, T. (2022) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2022.960991 · Cited by 8 · see citing works
Impaired hippocampal NMDAR-LTP in a transgenic model of NSUN2-deficiency
George, H., Bashir, Z. I., & Hussain, S. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105597 · Cited by 9 · see citing works
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
Self-citationGupta, V. R., Ben‐Mahmoud, A., Idris, A. B., Hottenga, J., Habbab, W., Alsayegh, A., Kim, H., Al-Mamari, W. S., & Stanton, L. W. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252413700 · Cited by 7 · see citing works
Shil, A., Levin, L., Golan, H. M., Meiri, G., Michaelovski, A., Sadaka, Y., Aran, A. A., Dinstein, I., & Menashe, I. (2023) · Scientific Reports · doi:10.1038/s41598-023-46258-x · Cited by 7 · see citing works
Graziano, C., Despang, P., Palombo, F., Severi, G., Posar, A., Cassio, A., Pippucci, T., Isidori, F., Matthes, J., & Bonora, E. (2019) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-020-04551-y · Cited by 8 · see citing works
Núñez-Ríos, D. L., Chaskel, R., López, A., Galeano, L., & Lattig, M. C. (2020) · PLoS ONE · doi:10.1371/journal.pone.0235512 · Cited by 7 · see citing works
O’Connell, M., Harstad, E. B., Aites, J., Hayes, K., Arnett, A. B., Scotellaro, J. L., Patel, S., Brewster, S. J., Barbaresi, W. J., & Doan, R. N. (2024) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63851 · Cited by 6 · see citing works
Self-citationThe role of rare compound heterozygous events in autism spectrum disorder
Lin, B. D., Colas, F., Nijman, I. J., Medic, J., Brands, W. J., Parr, J. R., van Eijk, K. R., Klauck, S. M., Chiocchetti, A. G., Freitag, C. M., et al. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-00866-7 · Cited by 6 · see citing works
Self-citationModification of the RNA methylome in neurodevelopmental disorders
PerezGrovas‐Saltijeral, A., Stones, J., Orji, O. C., Shaker, H., & Knight, H. M. (2025) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2025.102330 · Cited by 7 · see citing works
Genomic strategies to untangle the etiology of autism: A primer
Vashisth, S., & Chahrour, M. H. (2022) · Autism Research · doi:10.1002/aur.2844 · Cited by 6 · see citing works
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
Chettle, J., Louie, R. J., Larner, O., Best, R. G., Chen, K., Morris, J., Dedeić, Z., Childers, A., Rogers, R. C., DuPont, B. R., et al. (2024) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2024.100345 · Cited by 6 · see citing works
Lee, Y., Park, S., Lee, J. S., Kim, S. Y., Cho, J., Yoo, Y., Lee, S., Yoo, T., Lee, M., Seo, J., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-58101-8 · Cited by 6 · see citing works
Wright, E. B., Larsen, E. G., Coloma-Roessle, C. M., Hart, H. R., & Bhattacharya, M. R. C. (2023) · BMC Genomics · doi:10.1186/s12864-023-09676-9 · Cited by 5 · see citing works
- Authors
- 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., Freitag, C. M., Daly, M. J., Walsh, C. A., Buxbaum, J. D., & Yu, T. W.
- Affiliations
- Boston Children's Hospital (US)
- Centre National de la Recherche Scientifique (FR)
- Emory University (US)
- Goethe University Frankfurt (DE)
- Centre for Life (GB)
- Broad Institute (US)
- Icahn School of Medicine at Mount Sinai (US)
- Corresponding author
- Yu, Timothy W.
- ORCID
- Venue
- Nature Genetics
- Published
- 2019-06-17
- Volume
- 51
- Issue
- 7
- Pages
- 1092-1098
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC6629034
- OpenAlex
- W2952501183
- Cited by
- 159
- References
- 60
- Citations by year
- 2026: 13 · 2025: 11 · 2024: 27 · 2023: 21 · 2022: 31 · 2021: 26 · 2020: 27 · 2019: 3
- FWCI
- 12.64
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- HAL (submittedVersion, other-oa)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Wellcome Trust
- National Institutes of Health (5rc2mh089952-02, 1s10rr028832-01)
- Medical Research Council (MR/R006237/1)
- National Institute of Mental Health (U01MH100209, R01MH083565, U01MH111661, U01MH100229, R01MH113761, R01MH097849, U01MH111658, RC2-MH089952, U01MH100239, R56MH097849, U01MH111662, U01MH111660, U01MH100233)
- National Institute of Neurological Disorders and Stroke (T32NS007484)
- National Center for Research Resources (S10 RR028832)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U24HD093487, U19HD077671)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- autism spectrum disorder, recessive mutations, biallelic loss-of-function variants, neurodevelopmental genes, FEV, CA2, NSUN2, PAHs, retinoic acid receptor beta, SLC1A1, USH2A, rare variants
- MeSH terms
- Autism Spectrum Disorder, Exome Sequencing, Female, Genes, Recessive, Humans, Male, Cohort Studies, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Mutation, Missense, Allelic Imbalance
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