Cited by 198Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomics and Rare Diseases

The DOI matches its Crossref record; 61 of the 61 references it cites were found in a registry or an index.

Recessive gene disruptions in autism spectrum disorder

Open access

Autism Sequencing Consortium, Doan, Ryan N., Lim, Elaine T., De Rubeis, Silvia, Betancur, Catalina, Cutler, David J., Chiocchetti, Andreas G., Overman, Lynne M., Soucy, Aubrie, Goetze, Susanne, Freitag, Christine M., Daly, Mark J., Walsh, Christopher A., Buxbaum, Joseph D., Yu, Timothy W.·2019·Nature Genetics

DOI 10.1038/s41588-019-0433-8PMC PMC6629034

Open this paper in CoChat — free account

Abstract

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1038/s41588-019-0433-8

Cites

61 of 61 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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 14,724
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
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
Self-citation
Glutamate neurotoxicity and diseases of the nervous system
Choi, D. W. (1988) · Neuron · doi:10.1016/0896-6273(88)90162-6 · Cited by 8,188
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
Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years — Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014
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
Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering
Browning, S. R., & Browning, B. L. (2007) · The American Journal of Human Genetics · doi:10.1086/521987 · Cited by 3,217
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
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
Self-citation
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084

Show all 60 references

Sorted by citations

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
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
Self-citation
Genomic 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 287
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 295
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
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 239
The RNA Methyltransferase NSUN2 and Its Potential Roles in Cancer
Chellamuthu, A., & Gray, S. G. (2020) · Cells · doi:10.3390/cells9081758 · Cited by 218
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 218
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 211
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
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 156
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
Rodin, R. E., Dou, Y., Kwon, M., Sherman, M. A., D’Gama, A. M., Doan, R. N., Rento, L. M., Girskis, K. M., Bohrson, C. L., Kim, S. N., et al. (2021) · Nature Neuroscience · doi:10.1038/s41593-020-00765-6 · Cited by 135
Self-citation
A 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 122
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior
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 87
Self-citation
Genetic 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 87
Self-citation
In-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 87
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 81
Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes
Mordaunt, C. E., Jianu, J. M., Laufer, B. I., Zhu, Y., Hwang, H., Dunaway, K. W., Bakulski, K. M., Feinberg, J. I., Volk, H. E., Lyall, K., et al. (2020) · Genome Medicine · doi:10.1186/s13073-020-00785-8 · Cited by 90
DIRECT-NET: An efficient method to discover cis-regulatory elements and construct regulatory networks from single-cell multiomics data
Zhang, L., Zhang, J., & Nie, Q. H. (2022) · Science Advances · doi:10.1126/sciadv.abl7393 · Cited by 75
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism
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
Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?
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 73
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
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 69
Retracted: Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning
Wang, H., & Avillach, P. (2021) · JMIR Medical Informatics · doi:10.2196/24754 · Cited by 66
Retracted
Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test
Arteche‐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
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 56
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
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits
Bhat, S., El‐Kasaby, A., Freissmuth, M., & Sučić, S. (2020) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2020.107785 · Cited by 53
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 56
Self-citation
CRISPR 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 51
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
Self-citation
The 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 49
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 53
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
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 44
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
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
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
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
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
Proteomic Analysis of Brain Region and Sex-Specific Synaptic Protein Expression in the Adult Mouse Brain
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
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 35
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 34
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder
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 34
Self-citation
Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk
Shin, 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 33
Self-citation
TCF20 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 28
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 33
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 30
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
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 27
Self-citation
Functional 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 30
Transcription factors in neurodevelopmental and associated psychiatric disorders: A potential convergence for genetic and environmental risk factors
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 25
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders
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
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
RNA Epigenetics: Fine-Tuning Chromatin Plasticity and Transcriptional Regulation, and the Implications in Human Diseases
Willbanks, A. R., Wood, S., & Cheng, J. X. (2021) · Genes · doi:10.3390/genes12050627 · Cited by 26
Heterozygosity for a Pathogenic Variant in SLC12A3 That Causes Autosomal Recessive Gitelman Syndrome Is Associated with Lower Serum Potassium
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 23
Somatic Mosaicism and Autism Spectrum Disorder
D’Gama, A. M. (2021) · Genes · doi:10.3390/genes12111699 · Cited by 25
Cellular and molecular mechanisms underlying autism spectrum disorders and associated comorbidities: A pathophysiological review
Dera, H. S. A. (2022) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2022.112688 · Cited by 26
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
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
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
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
The autism risk factor CHD8 is a chromatin activator in human neurons and functionally dependent on the ERK-MAPK pathway effector ELK1
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 19
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 15
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
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
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
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 16
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
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization
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
Reorganization of postmitotic neuronal chromatin accessibility for maturation of serotonergic identity
Zhang, X. L., Spencer, W. C., Tabuchi, N., Kitt, M. M., & Deneris, E. S. (2022) · eLife · doi:10.7554/elife.75970 · Cited by 14
Male pheromones modulate synaptic transmission at the C. elegans neuromuscular junction in a sexually dimorphic manner
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
Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing
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
Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder
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
Sex differences in the transcriptome of extracellular vesicles secreted by fetal neural stem cells and effects of chronic alcohol exposure
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
Association of CDH11 with Autism Spectrum Disorder Revealed by Matched-gene Co-expression Analysis and Mouse Behavioral Studies
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
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
Self-citation
The 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
Understanding the relationship between asthma and autism spectrum disorder: a population-based family and twin study
Gong, T., Lundholm, C., Lundström, S., Kuja‐Halkola, R., Taylor, M. J., & Almqvist, C. (2022) · Psychological Medicine · doi:10.1017/s0033291721005158 · Cited by 14
Understanding the relationship between asthma and autism spectrum disorder : a population-based family and twin study
Gong, T., Lundholm, C., Lundström, S., Kuja‐Halkola, R., Taylor, M. J., & (18687481), C. A. M. (2023) · Figshare · Cited by 12
Profiling Genome-Wide DNA Methylation in Children with Autism Spectrum Disorder and in Children with Fragile X Syndrome
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
Gene Association Classification for Autism Spectrum Disorder: Leveraging Gene Embedding and Differential Gene Expression Profiles to Identify Disease-Related Genes
Suratanee, A., & Plaimas, K. (2023) · Applied Sciences · doi:10.3390/app13158980 · Cited by 12
Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genesPreprint
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
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
Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder
Lee, I., Koelliker, E. L., & Kong, S. W. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02179-3 · Cited by 11
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
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms
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
From Classical to Alternative Pathways of 2-Arachidonoylglycerol Synthesis: AlterAGs at the Crossroad of Endocannabinoid and Lysophospholipid Signaling
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 10
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder
Al‐Mamari, W., 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 10
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
Male-Dominant Effects of Chd8 Haploinsufficiency on Synaptic Phenotypes during Development in Mouse Prefrontal Cortex
Ellingford, R. A., Tojo, M., Basson, M. A., & Andreae, L. C. (2024) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.3c00690 · Cited by 8
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
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
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
Self-citation
Genetic Variant Analyses Identify Novel Candidate Autism Risk Genes from a Highly Consanguineous Cohort of 104 Families from Oman
Gupta, V. R., Ben‐Mahmoud, A., Idris, A. B., Hottenga, J., Habbab, W., Alsayegh, A., Kim, H., Al‐Mamari, W., & Stanton, L. W. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms252413700 · Cited by 10
Comparison of three bioinformatics tools in the detection of ASD candidate variants from whole exome sequencing data
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 6
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder
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
The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders
Núñez-Ríos, D. L., Chaskel, R., López, A., Galeano, L., & Lattig, M. C. (2020) · PLoS ONE · doi:10.1371/journal.pone.0235512 · Cited by 11
Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention‐deficit/hyperactivity disorder
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 7
Self-citation
The 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
Self-citation
Modification 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
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 11
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
Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
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
Transmembrane protein 184B (TMEM184B) promotes expression of synaptic gene networks in the mouse hippocampus
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

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: Doan, Ryan N.
Lim, Elaine T.
Betancur, Catalina
Cutler, David J.
Chiocchetti, Andreas G.
Soucy, Aubrie
Freitag, Christine M.
Daly, Mark J.
Walsh, Christopher A.
Buxbaum, Joseph D.
Yu, Timothy W.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2019-06-17
Volume: 51
Issue: 7
Pages: 1092-1098
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/s41588-019-0433-8
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
Licence: www.springer.com/tdm (tdm)
www.springer.com/tdm (vor)
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Recessive gene disruptions in autism spectrum disorder

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks