The DOI matches its Crossref record; 321 of the 329 references it cites were found in a registry or an index.
The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes
Open accessAbstract
The complexity of the human brain emerges from a long and finely tuned developmental process orchestrated by the crosstalk between genome and environment. Vis à vis other species, the human brain displays unique functional and morphological features that result from this extensive developmental process that is, unsurprisingly, highly vulnerable to both genetically and environmentally induced alterations. One of the most striking outcomes of the recent surge of sequencing-based studies on neurodevelopmental disorders (NDDs) is the emergence of chromatin regulation as one of the two domains most affected by causative mutations or Copy Number Variations besides synaptic function, whose involvement had been largely predicted for obvious reasons. These observations place chromatin dysfunction at the top of the molecular pathways hierarchy that ushers in a sizeable proportion of NDDs and that manifest themselves through synaptic dysfunction and recurrent systemic clinical manifestation. Here we undertake a conceptual investigation of chromatin dysfunction in NDDs with the aim of systematizing the available evidence in a new framework: first, we tease out the developmental vulnerabilities in human corticogenesis as a structuring entry point into the causation of NDDs; second, we provide a much needed clarification of the multiple meanings and explanatory frameworks revolving around "epigenetics", highlighting those that are most relevant for the analysis of these disorders; finally we go in-depth into paradigmatic examples of NDD-causing chromatin dysregulation, with a special focus on human experimental models and datasets.
Overview
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
Cites
Statistics
Verification
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?
In the citing paper
“several of which are themselves causative genes of intellectual disability syndromes with neurocristopathic involvement, as in the case of our recently identified Gabriele–de Vries syndrome caused by YY1 haploinsufficiency (31, 32).”
From Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication (2019) · cites this paper as [32]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
High-Resolution Profiling of Histone Methylations in the Human Genome
Barski, A., Cuddapah, S., Cui, K., Roh, T.-Y., Schones, D. E., Wang, Z., Wei, G., Chepelev, I., & Zhao, K. (2007) · Cell · doi:10.1016/j.cell.2007.05.009 · Cited by 6,845
Okano, M., Bell, D. W., Haber, D. A., & Li, E. (1999) · Cell · doi:10.1016/s0092-8674(00)81656-6 · Cited by 6,143
Regulation of chromatin by histone modifications
Bannister, A. J., & Kouzarides, T. (2011) · Cell Research · doi:10.1038/cr.2011.22 · Cited by 6,012
Conversion of 5-Methylcytosine to 5-Hydroxymethylcytosine in Mammalian DNA by MLL Partner TET1
Tahiliani, M., Koh, K. P., Shen, Y., Pastor, W. A., Bandukwala, H., Brudno, Y., Agarwal, S., Iyer, L. M., Liu, D. R., Aravind, L., et al. (2009) · Science · doi:10.1126/science.1170116 · Cited by 5,836
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Human DNA methylomes at base resolution show widespread epigenomic differences
Lister, R., Pelizzola, M., Dowen, R. H., Hawkins, R. D., Hon, G., Tonti-Filippini, J., Nery, J. R., Lee, L., Ye, Z., Ngo, Q.-M., et al. (2009) · Nature · doi:10.1038/nature08514 · Cited by 4,673
Histone demethylation mediated by the nuclear amine oxidase homolog LSD1
Shi, Y., Lan, F., Matson, C., Mulligan, P., Whetstine, J. R., Cole, P. A., Casero, R. A., & Shi, Y. (2004) · Cell · doi:10.1016/j.cell.2004.12.012 · Cited by 4,051
Genetic effects on gene expression across human tissues
GTEx Consortium (2017) · Nature · doi:10.1038/nature24277 · Cited by 4,036
CANALIZATION OF DEVELOPMENT AND THE INHERITANCE OF ACQUIRED CHARACTERS
WADDINGTON, C. H. (1942) · Nature · doi:10.1038/150563a0 · Cited by 3,255 · cited 1×
“This integration of the classical view of embryological epigenesis with genetics paved the way to modern epigenetics (Waddington, 1942).”
CpG islands and the regulation of transcription
Deaton, A. M., & Bird, A. (2011) · Genes & Development · doi:10.1101/gad.2037511 · Cited by 3,187
Research works printed but not linked: 1
- Ronan, 2013, From neural development to cognition: unexpected roles for chromatin, Nat. Rev. Genet., 14, 347, 10.1038/nrg3413 · DOI · Paper page
Cited by
Sorted by citations
Cheroni, C., Caporale, N., & Testa, G. (2020) · Molecular Autism · doi:10.1186/s13229-020-00370-1 · Cited by 282
Self-citationThe Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1
Verheul, T. C. J., van Hijfte, L., Perenthaler, E., & Barakat, T. S. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.592164 · Cited by 204
Enhancers in disease: molecular basis and emerging treatment strategies
Claringbould, A., & Zaugg, J. B. (2021) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2021.07.012 · Cited by 179
Regulation of Adult Neurogenesis in Mammalian Brain
Niklison-Chirou, M. V., Agostini, M., Amelio, I., & Melino, G. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21144869 · Cited by 143
Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
Frega, M., Linda, K., Keller, J. M., Gümüş-Akay, G., Mossink, B., van Rhijn, J.-R., Negwer, M., Klein Gunnewiek, T., Foreman, K., Kompier, N., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12947-3 · Cited by 137
Mossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03714-5 · Cited by 114
The Epigenome in Neurodevelopmental Disorders
Reichard, J., & Zimmer‐Bensch, G. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.776809 · Cited by 117
Zanella, M., Vitriolo, A., Andirko, A., Martins, P. T., Sturm, S., O’Rourke, T., Laugsch, M., Malerba, N., Skaros, A., Trattaro, S., et al. (2019) · Science Advances · doi:10.1126/sciadv.aaw7908 · Cited by 101
Self-citationChromatin Regulation of Neuronal Maturation and Plasticity
Gallegos, D. A., Chan, U., Chen, L., & West, A. E. (2018) · Trends in Neurosciences · doi:10.1016/j.tins.2018.02.009 · Cited by 96
Microglia-mediated synaptic pruning as a key deficit in neurodevelopmental disorders: Hype or hope?
Mordelt, A., & de Witte, L. D. (2023) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2022.102674 · Cited by 99
Villa, C. E., Cheroni, C., Dotter, C. P., López-Tóbon, A., Oliveira, B., Sacco, R., Yahya, A. Ç., Morandell, J., Gabriele, M., Tavakoli, M. R., et al. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110615 · Cited by 92
Self-citationTracking and interpreting long-range chromatin interactions with super-resolution live-cell imaging
Brandão, H. B., Gabriele, M., & Hansen, A. S. (2021) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2020.11.002 · Cited by 77
Self-citationLandscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
Valencia, A. M., Sankar, A., van der Sluijs, P. J., Satterstrom, F. K., Fu, J. M., Talkowski, M. E., Vergano, S. A. S., Santen, G. W. E., & Kadoch, C. (2023) · Nature Genetics · doi:10.1038/s41588-023-01451-6 · Cited by 81
miRNA biogenesis and inherited disorders: clinico-molecular insights
Pelletier, D., Rivera, B., Fabian, M. R., & Foulkes, W. D. (2023) · Trends in Genetics · doi:10.1016/j.tig.2023.01.009 · Cited by 61
Epigenetic Effects of Polybrominated Diphenyl Ethers on Human Health
Poston, R. G., & Saha, R. N. (2019) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph16152703 · Cited by 59
Frega, M., Selten, M. M., Mossink, B., Keller, J. M., Linda, K., Moerschen, R., Qu, J., Koerner, P., Jansen, S. M. J., Bijvank, E., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2019.12.002 · Cited by 59
How can same-gene mutations promote both cancer and developmental disorders?
Nussinov, R., Tsai, C., & Jang, H. (2022) · Science Advances · doi:10.1126/sciadv.abm2059 · Cited by 55
Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders
Moffat, J. J., Smith, A. L., Jung, E., Ka, M., & Kim, W.-Y. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01060-x · Cited by 53
D’Incal, C. P., Rossem, K. E. V., Man, K. D., Konings, A., Dijck, A. V., Rizzuti, L., Vitriolo, A., Testa, G., Gozes, I., Berghe, W. V., et al. (2023) · Clinical Epigenetics · doi:10.1186/s13148-023-01450-8 · Cited by 52
Self-citationZanoni, 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
Nussinov, R., Yavuz, B. R., Arici, M. K., Demirel, H. C., Zhang, M., Liu, Y., Tsai, C., Jang, H., & Tunçbağ, N. (2023) · Biophysical Reviews · doi:10.1007/s12551-023-01054-9 · Cited by 47
Allostery, and how to define and measure signal transduction
Nussinov, R., Tsai, C., & Jang, H. (2022) · Biophysical Chemistry · doi:10.1016/j.bpc.2022.106766 · Cited by 46
Diagnostic Utility of Genome-Wide DNA Methylation Analysis in Mendelian Neurodevelopmental Disorders
Haghshenas, S., Bhai, P. S., Aref‐Eshghi, E., & Sadiković, B. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21239303 · Cited by 43
SETD1A Mediated H3K4 Methylation and Its Role in Neurodevelopmental and Neuropsychiatric Disorders
Wang, S., Bleeck, A., Kasri, N. N., Kleefstra, T., van Rhijn, J.-R., & Schubert, D. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.772000 · Cited by 37
Neurodevelopmental disorders, immunity, and cancer are connected
Nussinov, R., Tsai, C., & Jang, H. (2022) · iScience · doi:10.1016/j.isci.2022.104492 · Cited by 35
Histone–lysine N-methyltransferase 2 (KMT2) complexes – a new perspective
Poręba, E., Leśniewicz, K., & Durzyńska, J. (2022) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2022.108443 · Cited by 34
Vilela, J. E. R., Asif, M., Marques, A. R., Santos, J. X., Rasga, C., Vicente, A. M., & Martiniano, H. (2022) · Expert Systems · doi:10.1111/exsy.13181 · Cited by 36
The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior
Moffat, J. J., Jung, E., Ka, M., Smith, A. L., Jeon, B. T., Santen, G. W. E., & Kim, W.-Y. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.08.021 · Cited by 31
O-GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability
Konzman, D., Abramowitz, L. K., Steenackers, A., Mukherjee, M., Na, H., & Hanover, J. A. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.605263 · Cited by 31
Michurina, A., Sakib, M. S., Kerimoglu, C., Krüger, D. M., Kaurani, L., Islam, R., Joshi, P. D., Schröder, S., Centeno, T. P., Zhou, J., et al. (2021) · The EMBO Journal · doi:10.15252/embj.2020106459 · Cited by 26
Poeta, L., Padula, A., Attianese, B., Valentino, M., Verrillo, L., Filosa, S., Shoubridge, C., Barra, A., Schwartz, C. E., Christensen, J. F., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz254 · Cited by 29
Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells
Ossola, C., & Kalebic, N. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.817218 · Cited by 23
Reprogramming of the epigenome in neurodevelopmental disorders
Wilson, K., Porter, E. G. P., & Garcia, B. A. (2021) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.1080/10409238.2021.1979457 · Cited by 27
Welch, C. J., Johnson, E., Tupikova, A., Anderson, J., Tinsley, B., Newman, J., Widman, E., Alfareh, A., Davis, A., Rodriguez, L., et al. (2022) · NeuroToxicology · doi:10.1016/j.neuro.2022.01.006 · Cited by 24
Ketogenic diet modifies ribosomal protein dysregulation in KMT2D Kabuki syndrome
Tsang, E., Han, V. X., Flutter, C., Alshammery, S., Keating, B. A., Williams, T. A., Gloss, B., Graham, M. E., Aryamanesh, N., Pang, C. N. I., et al. (2024) · EBioMedicine · doi:10.1016/j.ebiom.2024.105156 · Cited by 23
Modern human changes in regulatory regions implicated in cortical development
Moriano, J., & Boeckx, C. A. (2020) · BMC Genomics · doi:10.1186/s12864-020-6706-x · Cited by 23
Fencková, M., Muha, V., Mariappa, D., Catinozzi, M., Czajewski, I., Blok, L. E. R., Ferenbach, A. T., Storkebaum, E., Schenck, A., & van Aalten, D. M. F. (2022) · PLoS Genetics · doi:10.1371/journal.pgen.1010159 · Cited by 24
Iannuccelli, M., Vitriolo, A., Licata, L., Surdo, P. L., Contino, S., Cheroni, C., Capocefalo, D., Castagnoli, L., Testa, G., Cesareni, G., et al. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02317-3 · Cited by 15
Self-citationReview and Evaluate the Bioinformatics Analysis Strategies of ATAC-seq and CUT&Tag Data
Cheng, S., Miao, B., Li, T., Zhao, G., & Zhang, B. (2024) · Genomics Proteomics & Bioinformatics · doi:10.1093/gpbjnl/qzae054 · Cited by 20
Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue
Janowski, M., Milewska, M., Zare, P., & Pękowska, A. (2021) · Pharmaceuticals · doi:10.3390/ph14080765 · Cited by 21
Ma, M., Zhang, X., Zheng, Y., Lu, S., Pan, X., Mao, X. O., Pan, H., Chung, H.-L., Wang, H., Guo, H., et al. (2022) · Human Molecular Genetics · doi:10.1093/hmg/ddac259 · Cited by 17
The omics era: a nexus of untapped potential for Mendelian chromatinopathies
Nava, A. A., & Arboleda, V. A. (2023) · Human Genetics · doi:10.1007/s00439-023-02560-2 · Cited by 22
Meloni, M., & Reynolds, J. (2020) · Synthese · doi:10.1007/s11229-020-02748-3 · Cited by 19
The chromatin remodeler ISWI acts during Drosophila development to regulate adult sleep
Gong, N. N., Dilley, L. C., Williams, C. E., Moscato, E. H., Szuperák, M., Wang, Q., Jensen, M., Girirajan, S., Tan, T. Y., Deardorff, M. A., et al. (2021) · Science Advances · doi:10.1126/sciadv.abe2597 · Cited by 19
Soma‐to‐germline transformation in chromatin‐linked neurodevelopmental disorders?
Bonefas, K. M., & Iwase, S. (2021) · FEBS Journal · doi:10.1111/febs.16196 · Cited by 18
Chromatin dynamics in human brain development and disease
Valencia, A. M., & Pașca, S. P. (2021) · Trends in Cell Biology · doi:10.1016/j.tcb.2021.09.001 · Cited by 17
Mayfield, J. M., Hitefield, N. L., Czajewski, I., Vanhye, L., Holden, L. L., Morava, É., van Aalten, D. M. F., & Wells, L. (2024) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2024.107599 · Cited by 18
Clinical epigenetics: a primer for the practitioner
Aygun, D., & Bjornsson, H. T. (2019) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.14398 · Cited by 17
Nørgaard, S., Attianese, B., Boreggio, L., & Salcini, A. E. (2020) · Development · doi:10.1242/dev.190637 · Cited by 16
Epigenetic and metabolic regulation of developmental timing in neocortex evolution
Aquilino, M., Ditzer, N., Namba, T., & Albert, M. (2025) · Trends in Neurosciences · doi:10.1016/j.tins.2025.03.001 · Cited by 16
Liu, D., Benzaquen, J., Morris, L. G. T., Ilié, M., & Hofman, P. M. (2022) · Cancers · doi:10.3390/cancers14112816 · Cited by 15
Freeman, D. M., Lou, D. W., Li, Y., Martos, S. N., & Wang, Z. (2020) · Epigenetics & Chromatin · doi:10.1186/s13072-020-00338-8 · Cited by 15
Disruption of the gene regulatory programme in neurodevelopmental disorders
Griffin, A., Mahesh, A., & Tiwari, V. K. (2022) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2022.194860 · Cited by 14
Williams, R. M., Taylor, G., Ling, I. T. C., Candido-Ferreira, I., Fountain, D. M., Mayes, S., Ateş-Kalkan, P. S., Haug, J. O., Price, A. J., McKinney, S. A., et al. (2024) · PLOS Biology · doi:10.1371/journal.pbio.3002786 · Cited by 12
Gabriele, M., Vitriolo, A., Cuvertino, S., Pereira, M. F., Franconi, C., Germain, P., Capocefalo, D., Castaldi, D., Tenderini, E., Bèchet, N. B., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.04.22.440945 · Cited by 10
Self-citationFrom enhanceropathies to the epigenetic manifold underlying human cognition
Vitriolo, A., Gabriele, M., & Testa, G. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz196 · Cited by 9
Self-citationChromatin Dynamics: Chromatin Remodeler, Epigenetic Modification and Diseases
Cui, G., Dong, Q., Gai, K., & Qi, S. (2023) · IntechOpen eBooks · doi:10.5772/intechopen.108385 · Cited by 7
Pereira, M. F., Finazzi, V., Rizzuti, L., Aprile, D., Aiello, V., Mollica, L., Riva, M., Soriani, C., Dossena, F., Shyti, R., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-02929-x · Cited by 10
Self-citationJohn, M. S., Tripathi, T., Morgan, A. T., & Amor, D. J. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105293 · Cited by 8
Hayes, J. P., Han, V. X., Keating, B. A., Nishida, H., Tsang, E., Lau, X., Dissanayake, R., Aryamanesh, N., Gold, W. A., Wong, M. M., et al. (2025) · Neurotherapeutics · doi:10.1016/j.neurot.2025.e00792 · Cited by 7
Control of striatal circuit development by the chromatin regulator Zswim6
Choi, K., Henderson, N. T., Feierman, E. R., Louzon, S., Galanaugh, J., Davatolhagh, M. F., Bhandaru, I., Tischfield, D. J., Anderson, S. A., Korb, E., et al. (2025) · Science Advances · doi:10.1126/sciadv.adq6663 · Cited by 7
Leonardi, O., Lewerissa, E., Aprile, D., Barakat, T. S., Culotta, L., Deng, R., Haazen, L., Linda, K., Majoie, M., Mordelt, A., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.21.634145 · Cited by 8
Self-citationEvaluation of familial phenotype deviation to measure the impact of de novo mutations in autism
Kim, S.-W., Lee, H., Song, D. Y., Lee, G., Han, J. H., Lee, J., Byun, H. J., Son, J. H., Kim, Y. R., Lee, Y., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01532-7 · Cited by 7
Dale, R. C., Mohammad, S. S., Han, V. X., Nishida, H., Goel, H., Tangye, S. G., Hollway, G. E., Tantsis, E. M., Gill, D. S., Patel, S., et al. (2025) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.16276 · Cited by 6
Intellectual disability, the long way from genes to biological mechanisms
Martí, M., Millan, M. I. P., Young, J. I., & Walz, K. (2020) · Journal of Translational Genetics and Genomics · doi:10.20517/jtgg.2020.10 · Cited by 7
Zanella, M., Vitriolo, A., Andirkó, A., Martins, P. T., Sturm, S., O’Rourke, T., Laugsch, M., Malerba, N., Skaros, A., Trattaro, S., et al. (2020) · Yearbook of pediatric endocrinology · doi:10.1530/ey.17.14.7 · Cited by 5
Self-citationCaporale, N., & Testa, G. (2019) · Elsevier eBooks · doi:10.1016/b978-0-12-814879-2.00017-0 · Cited by 5
Self-citationVilla, C. E., Cheroni, C., Tobon, A., Dotter, C. P., Oliveira, B., Sacco, R., Yahya, A. Ç., Morandell, J., Gabriele, M., Sommer, C., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.11.26.399469 · Cited by 5
Self-citationBoukas, L., Luperchio, T. R., Razi, A., Hansen, K. D., & Bjornsson, H. T. (2024) · Genome Research · doi:10.1101/gr.278416.123 · Cited by 6
Garvin, M. R., & Kainer, D. (2025) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2025.1553575 · Cited by 5
Hou, X., Yang, Y., Wang, C., Huang, Z., Zhang, M., Yang, J., Li, N., Yang, H., Yang, L., & Wu, K. (2024) · Journal of Cellular Physiology · doi:10.1002/jcp.31402 · Cited by 4
TSC2 loss in neural progenitor cells suppresses mRNA translation of neurodevelopmental genes
Martin, P., Szkop, K. J., Robert, F., Bhattacharyya, S., Beauchamp, R. L., Brenner, J., Redmond, N. E., Huang, S., Erdin, S., Larsson, O. S., et al. (2025) · Brain · doi:10.1093/brain/awaf081 · Cited by 6
Inter and transgenerational impact of H3K4 methylation in neuronal homeostasis
Nørgaard, S., Tapia, M. C., Zeijdner, M., Kim, J. H., Won, K., Porse, B. T., & Salcini, A. E. (2023) · Life Science Alliance · doi:10.26508/lsa.202301970 · Cited by 4
Three-dimensional models of human brain development
Tobon, A., Caporale, N., Trattaro, S., & Testa, G. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814085-7.00011-8 · Cited by 4
Self-citationChromatin, transcriptional and immune dysregulation in children with neurodevelopmental regressionPreprint
Nishida, H., Han, V. X., Keating, B. A., Zyner, K. G., Gloss, B., Aryamanesh, N., Dey, P., Marshall, L. L., Tsang, E., Alshammery, S., et al. (2025) · medRxiv · doi:10.1101/2025.03.05.25322433 · Cited by 3
D’Incal, C. P., Rossem, K. E. V., Cappuyns, E., Dijck, A. V., Elinck, E., Man, K. D., Scott, A., Konings, A., Annear, D. J., & Kooy, R. F. (2025) · Autism Research · doi:10.1002/aur.70132 · Cited by 4
Epigenetic science and Indigenous health: key issues and considerations for future research
Keaney, J., Byrne, H., Warin, M. J., Kowal, E., Meloni, M., Gilbert, S., Craig, J. M., Rae, K. M., Wenitong, M., & Brown, A. D. H. (2024) · International Indigenous Policy Journal · doi:10.18584/iipj.2023.14.3.14820 · Cited by 4
Ding, S. (2026) · Frontiers in Neuroscience · doi:10.3389/fnins.2026.1761279 · Cited by 2
Legüe, M. (2022) · Revista Médica Clínica Las Condes · doi:10.1016/j.rmclc.2022.07.001 · Cited by 3
Abnormal behavior is reversible in a chromatin mutantPreprint
Rodriguez, J. D., Reeves, M. N., Wang, H. V., Chavez, J. Z., Rastogi, R., Chavez, S. R., Preston, E. A., Chadha, M. S., Sun, L., Hill, E. J., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.10.29.564525 · Cited by 2
Martin, P., Szkop, K. J., Robert, F., Bhattacharyya, S., Beauchamp, R. L., Brenner, J., Redmond, N. E., Huang, S., Erdin, S., Larsson, O. S., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.04.597393 · Cited by 2
Gene regulatory networks controlling neuronal development
Lambert, J. T., Haigh, J. L., & Nord, A. S. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814405-3.00027-8 · Cited by 1
Tsai, S.-M., Hsu, C., Chiang, I.-C., Liao, W., Chen, J.-K., & Jiang, Y.-J. (2026) · Scientific Reports · doi:10.1038/s41598-026-44674-3 · Cited by 1
Analysis of Themes and Issues in Neurodevelopmental Disorders
Venkatesan, S. (2018) · Advances in medical technologies and clinical practice book series · doi:10.4018/978-1-5225-7004-2.ch001 · Cited by 1
Rodriguez, J. D., Reeves, M. N., Chavez, S. R., Wang, H. V., Chavez, J. Z., Rastogi, R., Sun, L. I., Roberson, M. S., Preston, E. A., Massenburg, Z., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2513137122 · Cited by 1
Meert, L., Birkhoff, J. C., Conidi, A., Poot, R. A., & Huylebroeck, D. (2022) · Rare Disease and Orphan Drugs Journal · doi:10.20517/rdodj.2022.03 · Cited by 1
Modern human changes in regulatory regions implicated in cortical developmentPreprint
Moriano, J., & Boeckx, C. A. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/713891 · Cited by 1
Freeman, D. M., Lou, D. W., Li, Y., Martos, S. N., & Wang, Z. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/798587 · Cited by 1
Molecular mechanisms of YY1 overexpression in human cancers and its prognostic significance
Gabriele, M., Testa, G., & Hansen, A. S. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821909-6.00015-8
Self-citationPostnatal SETD1B is essential for learning and the regulation of neuronal plasticity genesPreprint
Michurina, A., Sakib, M. S., Kerimoglu, C., Krüger, D. M., Kaurani, L., Islam, R., Joshi, P. D., Schröder, S., Centeno, T. P., Zhou, J., et al. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.08.02.454636
Neurodevelopmental Disorders: Epigenetic Implications and Potential Analysis Methods
Sen, R. (2022) · Nutritional neurosciences · doi:10.1007/978-981-15-9781-7_3
Brain organoids modeling of genetic and environmental impact on neurodevelopmental traits
Caporale, N., Stucchi, S., Cheroni, C., & Testa, G. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-823937-7.00023-7
Self-citationGarvin, M. R., & Kainer, D. (2023) · medRxiv · doi:10.1101/2023.10.10.23296804 · Cited by 1
Rizzuti, L., Vitriolo, A., Mariana, P. D. A., Pereira, M. F., Meert, L., Dossena, F., Prazzoli, F., Dekker, M. R., Dekkers, D. H. W., Demmers, J., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.06.641037 · Cited by 1
Self-citationChanging minds epigenetically: Germline genes in neurons disrupt animal behavior
Teets, E. M., & Singhvi, A. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2525456122
Additional file 2 of Modern human changes in regulatory regions implicated in cortical development
Moriano, J., & Boeckx, C. A. (2020) · Figshare · doi:10.6084/m9.figshare.12144090
Freeman, D. M., Lou, D. W., Li, Y., Martos, S. N., & Wang, Z. (2020) · Figshare · doi:10.6084/m9.figshare.11992554
Patel, S., Han, V. X., Keating, B. A., Nishida, H., Hayes, J. P., Tsang, E., Aryamanesh, N., Marshall, L. L., Mohammad, S. S., & Dale, R. C. (2026) · Frontiers in Neurology · doi:10.3389/fneur.2026.1730761
Dale, R. C., Nishida, H., Han, V. X., Keating, B. A., Zyner, K. G., Hayes, J. P., Gloss, B., Aryamanesh, N., Dey, P., Marshall, L. L., et al. (2026) · Research Square · doi:10.21203/rs.3.rs-9529401/v1
Expanding the phenotypic Spectrum of ZNF711: Autism and epilepsy in two siblings
Urciuoli, G., Simeone, N., Rubino, M., Madia, F., Bilo, L., Comegna, M., Vita, G. D., & Coppola, A. (2026) · Epilepsy & Behavior Reports · doi:10.1016/j.ebr.2026.100878
Metadata
- Authors
- Gabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G.
- Affiliations
- University of Milan (IT)
- Corresponding author
- Testa, Giuseppe
- Venue
- Progress in Neuro-Psychopharmacology and Biological Psychiatry
- Publisher
- Elsevier BV
- Published
- 2018-06
- Volume
- 84
- Issue
- Pt B
- Pages
- 306-327
- ISSN
- 0278-5846 (ISSN-L)
- OpenAlex
- W2782325897
- Cited by
- 103
- References
- 329
- Citations by year
- 2026: 8 · 2025: 14 · 2024: 8 · 2023: 13 · 2022: 15 · 2021: 14 · 2020: 19 · 2019: 9 · 2018: 3
- FWCI
- 1.57
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Progress in Neuro-Psychopharmacology and Biological Psychiatry (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca (Universita Degli Studi Di Milano) (submittedVersion, other-oa)
- Funders
- European Research Council (616441)
- Telethon Foundation (GGP13231B, GGP14265)
- Associazione Italiana per la Ricerca sul cancro
- Italian Ministry of Health
- National Research Council
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- neurodevelopmental disorders, chromatin regulation, epigenetics, cortical development, copy number variation, synaptic dysfunction, developmental vulnerability, human brain development, gene-environment interaction
- MeSH terms
- Chromatin, Humans, Synapses, Epigenomics, Neurodevelopmental Disorders
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
