Accogli, A., Calabretta, S., St-Onge, J., Boudrahem-Addour, N., Dionne-Laporte, A., Joset, P., Azzarello-Burri, S., Rauch, A., Krier, J., Fieg, E., et al., 2019. De novo pathogenic variants in n-cadherin cause a syndromic neurodevelopmental disorder with corpus collosum, axon, cardiac, ocular, and genital defects. Am. J. Hum. Genet. 105, 854-868.
|
Bagni, C.,Zukin, R.S., 2019. A synaptic perspective of fragile x syndrome and autism spectrum disorders. Neuron. 101, 1070-1088.
|
Barnes, A.P.,Polleux, F., 2009. Establishment of axon-dendrite polarity in developing neurons. Annu. Rev. Neurosci. 32, 347-381.
|
Behesti, H., Fore, T.R., Wu, P., Horn, Z., Leppert, M., Hull, C.,Hatten, M.E., 2018. Astn2 modulates synaptic strength by trafficking and degradation of surface proteins. Proc. Natl. Acad. Sci. U. S. A. 115, E9717-E9726.
|
Botuyan, M.V., Lee, J., Ward, I.M., Kim, J.E., Thompson, J.R., Chen, J.,Mer, G., 2006. Structural basis for the methylation state-specific recognition of histone h4-k20 by 53bp1 and crb2 in DNA repair. Cell. 127, 1361-1373.
|
Ciptasari, U.,van Bokhoven, H., 2020. The phenomenal epigenome in neurodevelopmental disorders. Hum. Mol. Genet. 29, R42-R50.
|
Coe, B.P., Stessman, H.A.F., Sulovari, A., Geisheker, M.R., Bakken, T.E., Lake, A.M., Dougherty, J.D., Lein, E.S., Hormozdiari, F., Bernier, R.A., et al., 2019. Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity. Nat. Genet. 51, 106-116.
|
de Jong, J.O., Llapashtica, C., Genestine, M., Strauss, K., Provenzano, F., Sun, Y., Zhu, H., Cortese, G.P., Brundu, F., Brigatti, K.W., et al., 2021. Cortical overgrowth in a preclinical forebrain organoid model of cntnap2-associated autism spectrum disorder. Nat. Commun. 12, 4087.
|
De Rubeis, S., He, X., Goldberg, A.P., Poultney, C.S., Samocha, K., Cicek, A.E., Kou, Y., Liu, L., Fromer, M., Walker, S., et al., 2014. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 515, 209-215.
|
Dennis, G., Jr, Sherman, B.T., Hosack, D.A., Yang, J., Gao, W., Lane, H.C.,Lempicki, R.A., 2003. David:database for annotation, visualization, and integrated discovery. Genome Biol. 4, P3.
|
Geschwind, D.H.,State, M.W., 2015. Gene hunting in autism spectrum disorder:on the path to precision medicine. Lancet Neurol. 14, 1109-1120.
|
Gilbert, J.,Man, H.Y., 2017. Fundamental elements in autism:from neurogenesis and neurite growth to synaptic plasticity. Front. Cell. Neurosci. 11, 359.
|
Guo, H., Wang, T., Wu, H., Long, M., Coe, B.P., Li, H., Xun, G., Ou, J., Chen, B., Duan, G., et al., 2018. Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model. Mol. Autism. 9, 64.
|
Homberg, J.R., Kyzar, E.J., Nguyen, M., Norton, W.H., Pittman, J., Poudel, M.K., Gaikwad, S., Nakamura, S., Koshiba, M., Yamanouchi, H., et al., 2016. Understanding autism and other neurodevelopmental disorders through experimental translational neurobehavioral models. Neurosci. Biobehav. Rev. 65, 292-312.
|
Huang, E.J.,Reichardt, L.F., 2001. Neurotrophins:roles in neuronal development and function. Annu. Rev. Neurosci. 24, 677-736.
|
Iossifov, I., O'Roak, B.J., Sanders, S.J., Ronemus, M., Krumm, N., Levy, D., Stessman, H.A., Witherspoon, K.T., Vives, L., Patterson, K.E., et al., 2014. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515, 216-221.
|
Jorgensen, S., Schotta, G.,Sorensen, C.S., 2013. Histone h4 lysine 20 methylation:Key player in epigenetic regulation of genomic integrity. Nucleic Acids Res. 41, 2797-2806.
|
Kaplanis, J., Samocha, K.E., Wiel, L., Zhang, Z., Arvai, K.J., Eberhardt, R.Y., Gallone, G., Lelieveld, S.H., Martin, H.C., McRae, J.F., et al., 2020. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature. 586, 757-762.
|
Kwan, K.Y., Sestan, N.,Anton, E.S., 2012. Transcriptional co-regulation of neuronal migration and laminar identity in the neocortex. Development 139, 1535-1546.
|
Lai, M.C.,Baron-Cohen, S., 2015. Identifying the lost generation of adults with autism spectrum conditions. Lancet Psychiatr. 2, 1013-1027.
|
Lein, E.S., Hawrylycz, M.J., Ao, N., Ayres, M., Bensinger, A., Bernard, A., Boe, A.F., Boguski, M.S., Brockway, K.S., Byrnes, E.J., et al., 2007. Genome-wide atlas of gene expression in the adult mouse brain. Nature. 445, 168-176.
|
Li, L., Ruan, X., Wen, C., Chen, P., Liu, W., Zhu, L., Xiang, P., Zhang, X., Wei, Q., Hou, L., et al., 2019. The compass family protein ash2l mediates corticogenesis via transcriptional regulation of wnt signaling. Cell Rep. 28, 698-711 e695.
|
Miller, J.A., Ding, S.L., Sunkin, S.M., Smith, K.A., Ng, L., Szafer, A., Ebbert, A., Riley, Z.L., Royall, J.J., Aiona, K., et al., 2014. Transcriptional landscape of the prenatal human brain. Nature. 508, 199-206.
|
Morandell, J., Schwarz, L.A., Basilico, B., Tasciyan, S., Dimchev, G., Nicolas, A., Sommer, C., Kreuzinger, C., Dotter, C.P., Knaus, L.S., et al., 2021. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. Nat. Commun. 12, 3058.
|
Paquin, K.L.,Howlett, N.G., 2018. Understanding the histone DNA repair code:H4k20me2 makes its mark. Mol. Cancer Res. 16, 1335-1345.
|
Parenti, I., Rabaneda, L.G., Schoen, H.,Novarino, G., 2020. Neurodevelopmental disorders:from genetics to functional pathways. Trends Neurosci. 43, 608-621.
|
Rylaarsdam, L.,Guemez-Gamboa, A., 2019. Genetic causes and modifiers of autism spectrum disorder. Front. Cell. Neurosci. 13, 385.
|
Sahin, M.,Sur, M., 2015. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 350.
|
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., 2020. Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism. Cell. 180, 568-584 e523.
|
Schotta, G., Lachner, M., Sarma, K., Ebert, A., Sengupta, R., Reuter, G., Reinberg, D.,Jenuwein, T., 2004. A silencing pathway to induce h3-k9 and h4-k20 trimethylation at constitutive heterochromatin. Genes Dev. 18, 1251-1262.
|
Schotta, G., Sengupta, R., Kubicek, S., Malin, S., Kauer, M., Callen, E., Celeste, A., Pagani, M., Opravil, S., De La Rosa-Velazquez, I.A., et al., 2008. A chromatin-wide transition to h4k20 monomethylation impairs genome integrity and programmed DNA rearrangements in the mouse. Genes Dev. 22, 2048-2061.
|
Stessman, H.A., Xiong, B., Coe, B.P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al., 2017. Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat. Genet. 49, 515-526.
|
Trinh, J., Kandaswamy, K.K., Werber, M., Weiss, M.E.R., Oprea, G., Kishore, S., Lohmann, K.,Rolfs, A., 2019. Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders. J. Neurodev. Disord. 11, 11.
|
von Mering, C., Jensen, L.J., Snel, B., Hooper, S.D., Krupp, M., Foglierini, M., Jouffre, N., Huynen, M.A.,Bork, P., 2005. String:known and predicted protein-protein associations, integrated and transferred across organisms. Nucleic Acids Res. 33, D433-D437.
|
Wang, Z.J., Rein, B., Zhong, P., Williams, J., Cao, Q., Yang, F., Zhang, F., Ma, K.,Yan, Z., 2021b. Autism risk gene kmt5b deficiency in prefrontal cortex induces synaptic dysfunction and social deficits via alterations of DNA repair and gene transcription. Neuropsychopharmacology. 46, 1617-1626.
|
Wang, Z.J., Zhong, P., Ma, K., Seo, J.S., Yang, F., Hu, Z., Zhang, F., Lin, L., Wang, J., Liu, T., et al., 2020. Correction:amelioration of autism-like social deficits by targeting histone methyltransferases ehmt1/2 in shank3-deficient mice. Mol. Psychiatr. 25, 2641.
|
Wickramasekara, R.N.,Stessman, H.A.F., 2019. Histone 4 lysine 20 methylation:a case for neurodevelopmental disease. Biology 8.
|
Yang, H.,Wang, K., 2015. Genomic variant annotation and prioritization with annovar and wannovar. Nat. Protoc. 10, 1556-1566.
|
Zhang, Y., Liu, X., Guo, R., Xu, W., Guo, Q., Hao, C., Ni, X.,Li, W., 2021. Biological implications of genetic variations in autism spectrum disorders from genomics studies. Biosci. Rep. 41.
|
Zimmermann, M.,de Lange, T., 2014. 53bp1:pro choice in DNA repair. Trends Cell Biol. 24, 108-117
|