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Common risk variants identified in autism spectrum disorder

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Childhood trauma, life-time self-harm, and suicidal behaviour and ideation are associated with polygenic scores for autism

Warrier, V., & Baron‐Cohen, S. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0550-x · Cited by 89

The neuroligins and the synaptic pathway in Autism Spectrum Disorder

Trobiani, L., Meringolo, M., Diamanti, T., Bourne, Y., Marchot, P., Martella, G., Dini, L., Pisani, A., Jaco, A. D., & Bonsi, P. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.09.017 · Cited by 86

Association Between Mitochondrial DNA Haplogroup Variation and Autism Spectrum Disorders

Chalkia, D., Singh, L. N., Leipzig, J. N., Lvova, M., Derbeneva, O. A., Lakatos, A., Hadley, D., Hakonarson, H. H., & Wallace, D. C. (2017) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2017.2604 · Cited by 78

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

A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Tabet, A., Rolland, T., Ducloy, M., Lévy, J., Buratti, J., Mathieu, A., Haye, D., Perrin, L., Dupont, C., Passemard, S., et al. (2017) · npj Genomic Medicine · doi:10.1038/s41525-017-0035-2 · Cited by 87

Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder

Griesi‐Oliveira, K., Fogo, M. S., Pinto, B. G. G., Alves, A. Y., Suzuki, Â. M., Morales, A. G., Ezquina, S., Sosa, J., Sutton, G. J., Sunaga, D. Y., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-0669-9 · Cited by 80

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

Heinzen, E. L., O’Neill, A. C., Zhu, X., Allen, A. S., Bahlo, M., Chelly, J., Chen, M. H., Dobyns, W. B., Freytag, S., Guerrini, R., et al. (2018) · PLoS Genetics · doi:10.1371/journal.pgen.1007281 · Cited by 79

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Takata, A., Nakashima, M., Saitsu, H., Mizuguchi, T., Mitsuhashi, S., Takahashi, Y., Okamoto, N., Osaka, H., Nakamura, K., Tohyama, J., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10482-9 · Cited by 71

Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans

Zhao, G., Li, K., Li, B., Wang, Z., Fang, Z., Wang, X., Zhang, Y., Luo, T., Zhou, Q., Wang, L., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz923 · Cited by 64

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

Heyne, H., Artomov, M., Battke, F., Bianchini, C., Smith, D. R., Liebmann, N., Tadigotla, V. R., Stanley, C. M., Lal, D., Rehm, H. L., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0531-0 · Cited by 65

De novo Mutations (DNMs) in Autism Spectrum Disorder (ASD): Pathway and Network Analysis

Alonso-González, A., Rodriguez‐Fontenla, C., & Carracedo, Á. (2018) · Frontiers in Genetics · doi:10.3389/fgene.2018.00406 · Cited by 73

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2018) · doi:10.1101/484113 · Cited by 2,323

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12435-8 · Cited by 64

Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders

Bertoli‐Avella, A. M., Kandaswamy, K. K., Khan, S., Ordonez‐Herrera, N., Tripolszki, K., Beetz, C., Rocha, M. E., Urzi, A., Hotakainen, R., Leubauer, A., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01159-0 · Cited by 62

A Machine Learning Approach to Predicting Autism Risk Genes: Validation of Known Genes and Discovery of New Candidates

Lin, Y., Afshar, S., Rajadhyaksha, A. M., Potash, J. B., & Han, S. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.500064 · Cited by 61

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Lal, D., May, P., Samocha, K. E., Kosmicki, J. A., Robinson, E., Møller, R., Krause, R., Nüernberg, P., Weckhuysen, S., Jonghe, P. D., et al. (2020) · Genome Medicine · doi:10.1186/s13073-020-00725-6 · Cited by 69

Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 Copy Number Variant–Mediated Risk for Neuropsychiatric Disorders

Forsyth, J. K., Nachun, D. C., Gandal, M. J., Geschwind, D. H., Anderson, A., Coppola, G., & Bearden, C. E. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2019.06.029 · Cited by 62

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

Nehme, R., Pietiläinen, O., Artomov, M., Tegtmeyer, M., Valakh, V., Lehtonen, L., Bell, C., Singh, T., Trehan, A., Sherwood, J., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-31436-8 · Cited by 58

Enriched expression of genes associated with autism spectrum disorders in human inhibitory neurons

Wang, P., Zhao, D., Lachman, H. M., & Zheng, D. (2018) · Translational Psychiatry · doi:10.1038/s41398-017-0058-6 · Cited by 61

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Spataro, R., Kousi, M., Farhan, S. M. K., Willer, J. R., Ross, J. P., Dion, P. A., Rouleau, G. A., Daly, M. J., Neale, B. M., Bella, V. L., et al. (2019) · Human Genomics · doi:10.1186/s40246-019-0203-9 · Cited by 55

ANKRD11 variants: KBG syndrome and beyond

Parenti, I., Mallozzi, M., Hüning, I., Gervasini, C., Kuechler, A., Agolini, E., Albrecht, B., Baquero‐Montoya, C., Bohring, A., Bramswig, N. C., et al. (2021) · Clinical Genetics · doi:10.1111/cge.13977 · Cited by 57

The origin of human mutation in light of genomic data

Seplyarskiy, V. B., & Sunyaev, S. R. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00376-2 · Cited by 58

Heritable variation, with little or no maternal effect, accounts for recurrence risk to autism spectrum disorder in Sweden

Yip, B. H. K., Bai, D., Mahjani, B., Klei, L., Pawitan, Y., Hultman, C. M., Grice, D. E., Roeder, K., Buxbaum, J. D., Devlin, B., et al. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2017.09.007 · Cited by 46

Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

Qiao, L., Xu, L., Yu, L., Wynn, J., Hernan, R., Zhou, X., Farkouh‐Karoleski, C., Krishnan, U., Khlevner, J., De, A., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.08.011 · Cited by 48

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

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Zanoni, P., Steindl, K., Sengupta, D., Joset, P., Bahr, A., Sticht, H., Lang‐Muritano, M., van Ravenswaaij‐Arts, C. M. A., Shinawi, M. S., Andrews, M. V., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-021-01158-1 · Cited by 58

The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability

Chaste, P., Roeder, K., & Devlin, B. (2017) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022647 · Cited by 54

Advances in Biomarker Studies in Autism Spectrum Disorders

Shen, L., Zhao, Y., Zhang, H., Feng, C., Gao, Y. L., Zhao, D., Xia, S., Qi, H., Iqbal, J., Liu, X., et al. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-05542-4_11 · Cited by 48

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Leitão, E., Schröder, C., Parenti, I., Dalle, C., Rastetter, A., Kühnel, T., Kuechler, A., Kaya, S., Gérard, B., Schaefer, E., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-34264-y · Cited by 47

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications

Kalsner, L., Twachtman‐Bassett, J., Tokarski, K., Stanley, C. M., Dumont-Mathieu, T. M., Cotney, J. L., & Chamberlain, S. J. (2017) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.354 · Cited by 48

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotidesPreprint

Zhang, S., Samocha, K. E., Rivas, M. A., Karczewski, K. J., Daly, E., Schmandt, B., Neale, B. M., MacArthur, D. G., & Daly, M. J. (2018) · Genome Research · doi:10.1101/gr.231902.117 · Cited by 44

The Contribution of Rare De Novo and Inherited Coding Variants in Neurodevelopmental Disorders

Kosmicki, J. A. (2019) · Digital Access to Scholarship at Harvard (DASH) (Harvard University)

Divergent Associations of Rare De Novo Protein-Truncating Variants and Missense Mutations With Developmental Delays in Autism Spectrum Disorder

Kuo, S. S., van der Merwe, C., Carey, C. E., Bishop, S. L., & Robinson, E. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.02.349

In This Issue

Dengler, R. (2019) · Genetics in Medicine · doi:10.1038/s41436-019-0668-x

De novo variants in neurodevelopmental disorders—experiences from a tertiary care center

Brunet, T., Jech, R., Brügger, M., Kovacs, R., Alhaddad, B., Leszinski, G. S., Riedhammer, K. M., Westphal, D. S., Mahle, I., Mayerhanser, K., et al. (2021) · Clinical Genetics · doi:10.1111/cge.13946 · Cited by 119

META-ANALYSIS OF 9246 NEURODEVELOPMENTAL DISORDER PROBANDS IDENTIFIES 8 NOVEL GENES AND FINDS DE NOVO MUTATIONS IN PRIOR ASSOCIATED AUTISM SPECTRUM DISORDER GENES ARE MORE OFTEN OBSERVED IN PROBANDS WITHOUT ASD

Kosmicki, J. A., He, L., Samocha, K. E., Robinson, E., Barrett, J. C., & Daly, M. J. (2019) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2017.08.011 · Cited by 1