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

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Recessive gene disruptions in autism spectrum disorder

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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

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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.

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Additional file 1 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
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Additional file 3 of 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) · Figshare · doi:10.6084/m9.figshare.23896150
Additional file 4 of 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) · Figshare · doi:10.6084/m9.figshare.23896153
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Additional file 18 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582420
Additional file 1 of Functional relationships between recessive inherited genes and genes with de novo variants in autism spectrum disorder
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Additional file 1 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26624452
Additional file 32 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582462
Additional file 5 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582381
Additional file 41 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582489
Additional file 13 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582405
Additional file 27 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582447
Additional file 15 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582411
Additional file 24 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582438
Additional file 17 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582417
Additional file 38 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26582480
Additional file 22 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582432
Additional file 9 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582393
Additional file 33 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582465
Additional file 25 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582441
Additional file 23 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582435
Additional file 28 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582450
Additional file 5 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
Sheth, F., Shah, J., Jain, D. K., Shah, S., Patel, H., Patel, K. S., Solanki, D. I., Iyer, A. S., Menghani, B., Mhatre, P., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23896156
Additional file 30 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582456
Additional file 37 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582477
Additional file 36 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26582474
Additional file 31 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582459
Additional file 1 of Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes
Mordaunt, C. E., Jianu, J. M., Laufer, B. I., Zhu, Y., Hwang, H., Dunaway, K. W., Bakulski, K. M., Feinberg, J. I., Volk, H. E., Lyall, K., et al. (2020) · Figshare · doi:10.6084/m9.figshare.13093822
Additional file 6 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582384
Additional file 1 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582369
Additional file 11 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26582399
Additional file 2 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26624455
Additional file 7 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582387
Additional file 21 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26582429
Additional file 35 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582471
Additional file 10 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26582396
Additional file 29 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582453
Additional file 34 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26582468
Additional file 4 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582378
Additional file 8 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582390
Additional file 40 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582486
Additional file 14 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582408
Additional file 16 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582414
Additional file 20 of 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. (2024) · Figshare · doi:10.6084/m9.figshare.26582426
Additional file 2 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582372
Additional file 12 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582402
Additional file 26 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582444
Additional file 3 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582375
Additional file 19 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582423
Additional file 2 of Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test
Sheth, F., Shah, J., Jain, D., Shah, S., Patel, H., Patel, K., Solanki, D. I., Iyer, A. S., Menghani, B., Mhatre, P., et al. (2023) · Figshare · doi:10.6084/m9.figshare.23896144
Additional file 39 of 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. E., & Miranda, R. C. (2024) · Figshare · doi:10.6084/m9.figshare.26582483
Developmental Nicotine Exposure Induces Intergenerational Transmission of an Ensemble of Neurodevelopmental Disorder-Related Translatomic Perturbations in DRD1-Expressing Striatal Cells of Adolescent Male Mice
Buck, J. M., Melnick, M., & Stitzel, J. A. (2026) · Genes · doi:10.3390/genes17020128
Genetic Traces in Autism Spectrum Disorders: A Whole Exome Sequencing Study from Türkiye
Kayhan, G., Ozaslan, A., İşeri, E., Güney, E., Kazan, H. H., Büyüktaşkın, D., Mulayim, M. F., Ergün, M. A., & PERÇİN, F. E. (2026) · Genes · doi:10.3390/genes17020249
Autism spectrum disorder trios from consanguineous populations are enriched for rare homozygous variants, identifying 32 new candidate genes
Harripaul, R., Rabia, A., Vasli, N., Mikhailov, A., Rodrigues, A., Pastore, S. F., Muhammad, T., Madanagopal, T. T., Hashmi, A. N., Tran, C., et al. (2026) · Scientific Reports · doi:10.1038/s41598-026-44288-9 · Cited by 4
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Del-Pozo-Rodríguez, J. (2020) · theses.fr (ABES) · doi:10.70675/c4e031efz0a8bz4cfaz93abza990eb954d53
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Hayot, G. (2020) · theses.fr (ABES) · doi:10.70675/68f97142z0b02z402czaf1az7158eb30dd29
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Gerges, P. (2022) · theses.fr (ABES) · doi:10.70675/f14fade5z5081z4718za5b2zd91f27aa6992
Decomposing the genetic risk of autism spectrum disorder into discrete molecular subtypes underlie clinical heterogeneity based on transcriptome profile
Luo, L., Gao, X., Pang, T., Pang, K., Wang, T., Guo, H., Yang, L., & Chang, S. (2026) · Journal of Translational Medicine · doi:10.1186/s12967-026-08364-y
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Pini, N., Shuffrey, L. C., Sparks, K. C. O., Marin, A., D'Amato, C., Dambreville, R., Hu, Y., Siegel, R. N., Brown, H. R., Azad, G. F., et al. (2026) · Pediatric Research · doi:10.1038/s41390-026-05204-z
CNTNAP2 in neurodevelopmental disorders: Genetics, excitation/inhibition mechanisms and preclinical evidence
Dhungel, A., Bora, R., Chamidah, A. N., & Menge, D. M. (2026) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2026.104127
Autism: epidemiology, genetics, molecular mechanisms, clinical features, diagnosis, and management
Fan, R., Wang, Y., & Miao, T. (2026) · Molecular Biomedicine · doi:10.1186/s43556-026-00613-2

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

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