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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.
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“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]
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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
Why do many psychiatric disorders emerge during adolescence?
Paus, T., Keshavan, M., & Giedd, J. N. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2513 · Cited by 3,123
The Transcriptional Coactivators p300 and CBP Are Histone Acetyltransferases
Ogryzko, V. V., Schiltz, R. L., Russanova, V., Howard, B. H., & Nakatani, Y. (1996) · Cell · doi:10.1016/s0092-8674(00)82001-2 · Cited by 2,952
The molecular hallmarks of epigenetic control
Allis, C. D., & Jenuwein, T. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.59 · Cited by 2,809
Tet-Mediated Formation of 5-Carboxylcytosine and Its Excision by TDG in Mammalian DNA
He, Y., Li, B.-Z., Li, Z., Liu, P., Wang, Y., Tang, Q., Ding, J., Jia, Y., Chen, Z., Li, L., et al. (2011) · Science · doi:10.1126/science.1210944 · Cited by 2,776
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
Haberland, M., Montgomery, R. L., & Olson, E. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2485 · Cited by 2,600
Combinatorial patterns of histone acetylations and methylations in the human genome
Wang, Z., Zang, C., Rosenfeld, J. A., Schones, D. E., Barski, A., Cuddapah, S., Cui, K., Roh, T.-Y., Peng, W., Zhang, M. Q., et al. (2008) · Nature Genetics · doi:10.1038/ng.154 · Cited by 2,331
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
Erasers of Histone Acetylation: The Histone Deacetylase EnzymesPreprint
Seto, E., & Yoshida, M. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a018713 · Cited by 2,094
DNA Methylation and Gene Function
Razin, A., & Riggs, A. D. (1980) · Science · doi:10.1126/science.6254144 · Cited by 2,076
The DNA methyltransferases of mammals
Bestor, T. H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.16.2395 · Cited by 2,045
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
Voineagu, I., Wang, X., Johnston, P., Lowe, J. K., Tian, Y., Horvath, S., Mill, J., Cantor, R. M., Blencowe, B. J., & Geschwind, D. H. (2011) · Nature · doi:10.1038/nature10110 · Cited by 1,874 · cited 1×
“Genome-wide analyses performed in brains from autistic individuals revealed the existence of convergent molecular abnormalities in ASD, among which several high confidence genes provide a molecular neuropathological basis for the disease (Voineagu et al., 2011).”
Transgenerational epigenetic inheritance: myths and mechanisms
Heard, E., & Martienssen, R. A. (2014) · Cell · doi:10.1016/j.cell.2014.02.045 · Cited by 1,864
Role of histone H2A ubiquitination in Polycomb silencing
Wang, H., Wang, L., Erdjument‐Bromage, H., Vidal, M., Tempst, P., Jones, R. S., & Zhang, Y. (2004) · Nature · doi:10.1038/nature02985 · Cited by 1,856
Global epigenomic reconfiguration during mammalian brain development
Lister, R., Mukamel, E. A., Nery, J. R., Urich, M., Puddifoot, C. A., Johnson, N. D., Lucero, J., Huang, Y., Dwork, A. J., Schultz, M. D., et al. (2013) · Science · doi:10.1126/science.1237905 · Cited by 1,830
The CBP co-activator is a histone acetyltransferase
Bannister, A. J., & Kouzarides, T. (1996) · Nature · doi:10.1038/384641a0 · Cited by 1,828
Kuzmichev, A., Nishioka, K., Erdjument-Bromage, H., Tempst, P., & Reinberg, D. (2002) · Genes & Development · doi:10.1101/gad.1035902 · Cited by 1,596
Evolution of the neocortex: a perspective from developmental biology
Rakic, P. (2009) · Nature reviews. Neuroscience · doi:10.1038/nrn2719 · Cited by 1,565
Czermin, B., Melfi, R., McCabe, D., Seitz, V., Imhof, A., & Pirrotta, V. (2002) · Cell · doi:10.1016/s0092-8674(02)00975-3 · Cited by 1,536
Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci
Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.09.016 · Cited by 1,430
Extraordinary neoteny of synaptic spines in the human prefrontal cortex
Petanjek, Z., Judaš, M., Šimić, G., Rašin, M. R., Uylings, H. B. M., Rakic, P., & Kostović, I. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1105108108 · Cited by 1,411
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
Ng, S. B. H., Bigham, A. W., Buckingham, K. J., Hannibal, M., McMillin, M. J., Gildersleeve, H. I. S., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., et al. (2010) · Nature Genetics · doi:10.1038/ng.646 · Cited by 1,349
Epigenetic plasticity and the hallmarks of cancer
Flavahan, W. A., Gaskell, E., & Bernstein, B. E. (2017) · Science · doi:10.1126/science.aal2380 · Cited by 1,340
Carrozza, M. J., Li, B., Florens, L. A., Suganuma, T., Swanson, S. K., Lee, K. K., Shia, W.-J., Anderson, S., Yates, J. R., Washburn, M. P., et al. (2005) · Cell · doi:10.1016/j.cell.2005.10.023 · Cited by 1,338
Marchetto, M. C. N., Carromeu, C., Acab, A., Yu, D., Yeo, G. W., Mu, Y., Chen, G., Gage, F. H., & Muotri, A. R. (2010) · Cell · doi:10.1016/j.cell.2010.10.016 · Cited by 1,329
Transcriptional landscape of the prenatal human brain
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) · Nature · doi:10.1038/nature13185 · Cited by 1,325
Lehnertz, B., Ueda, Y., Derijck, A. A. H. A., Braunschweig, U., Perez-Burgos, L., Kubicek, S., Chen, T., Li, E., Jenuwein, T., & Peters, A. H. F. M. (2003) · Current Biology · doi:10.1016/s0960-9822(03)00432-9 · Cited by 1,289
Role of the polycomb protein EED in the propagation of repressive histone marks
Margueron, R., Justin, N., Ohno, K., Sharpe, M. L., Son, J., Drury, W. J., Voigt, P., Martin, S. R., Taylor, W. R., Marco, V. D., et al. (2009) · Nature · doi:10.1038/nature08398 · Cited by 1,281
Xu, G., Bestor, T. H., Bourc’his, D., Hsieh, C., Tommerup, N., Bugge, M., Hultén, M. A., Qu, X., Russo, J. J., & Viégas-Pèquignot, E. (1999) · Nature · doi:10.1038/46052 · Cited by 1,204
Gene Body Methylation Can Alter Gene Expression and Is a Therapeutic Target in Cancer
Yang, X., Han, H., De Carvalho, D. D., Lay, F. D., Jones, P. A., & Liang, G. (2014) · Cancer Cell · doi:10.1016/j.ccr.2014.07.028 · Cited by 1,199
Shilatifard, A. (2006) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.75.103004.142422 · Cited by 1,145
Zhang, Y., Ng, H.-H., Erdjument-Bromage, H., Tempst, P., Bird, A., & Reinberg, D. (1999) · Genes & Development · doi:10.1101/gad.13.15.1924 · Cited by 1,103
Williams, J. C. P., Barratt‐Boyes, B. G., & Lowe, J. B. (1961) · Circulation · doi:10.1161/01.cir.24.6.1311 · Cited by 1,063
Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet · doi:10.1016/s0140-6736(12)61480-9 · Cited by 1,041
A silencing pathway to induce H3-K9 and H4-K20 trimethylation at constitutive heterochromatin
Schotta, G., Lachner, M., Sarma, K., Ebert, A., Sengupta, R., Reuter, G., Reinberg, D., & Jenuwein, T. (2004) · Genes & Development · doi:10.1101/gad.300704 · Cited by 1,031
The role of the Rho GTPases in neuronal developmentPreprint
Govek, E., Newey, S. E., & Aelst, L. V. (2005) · Genes & Development · doi:10.1101/gad.1256405 · Cited by 1,024
Shen, X., Liu, Y., Hsu, Y.-J., Fujiwara, Y., Kim, J., Mao, X., Yuan, G.-C., & Orkin, S. H. (2008) · Molecular Cell · doi:10.1016/j.molcel.2008.10.016 · Cited by 1,021
YY1 Is a Structural Regulator of Enhancer-Promoter Loops
Weintraub, A. S., Li, C. H., Zamudio, A. V., Sigova, A. A., Hannett, N. M., Day, D. S., Abraham, B. J., Cohen, M. A., Nabet, B., Buckley, D. L., et al. (2017) · Cell · doi:10.1016/j.cell.2017.11.008 · Cited by 992
Dynamic Readers for 5-(Hydroxy)Methylcytosine and Its Oxidized Derivatives
Spruijt, C. G., Gnerlich, F., Smits, A. H., Pfaffeneder, T., Jansen, P. W. T. C., Bauer, C., Münzel, M., Wagner, M., Müller, M., Khan, F., et al. (2013) · Cell · doi:10.1016/j.cell.2013.02.004 · Cited by 973
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Pinto, D., Delaby, E., Merico, D., Barbosa, M., Merikangas, A., Klei, L., Thiruvahindrapuram, B., Xu, X., Ziman, R., Wang, Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.03.018 · Cited by 969
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965
Suz12 is essential for mouse development and for EZH2 histone methyltransferase activity
Pasini, D., Bracken, A. P., Jensen, M. R., Denchi, E. L., & Helin, K. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600402 · Cited by 963
Lateral Thinking: How Histone Modifications Regulate Gene Expression
Lawrence, M., Daujat, S., & Schneider, R. (2015) · Trends in Genetics · doi:10.1016/j.tig.2015.10.007 · Cited by 963
New nomenclature for chromatin-modifying enzymes
Allis, C. D., Berger, S. L., Cote, J., Dent, S., Jenuwien, T., Kouzarides, T., Pillus, L., Reinberg, D., Shi, Y., Shiekhattar, R., et al. (2007) · Cell · doi:10.1016/j.cell.2007.10.039 · Cited by 957
MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system
Mellén, M., Ayata, P., Dewell, S., Kriaucionis, S., & Heintz, N. (2012) · Cell · doi:10.1016/j.cell.2012.11.022 · Cited by 943
Ezh1 and Ezh2 Maintain Repressive Chromatin through Different Mechanisms
Margueron, R., Li, G., Sarma, K., Blais, A., Zavadil, J., Woodcock, C. L. F., Dynlacht, B. D., & Reinberg, D. (2008) · Molecular Cell · doi:10.1016/j.molcel.2008.11.004 · Cited by 930
The Polycomb-Group GeneEzh2 Is Required for Early Mouse Development
O’Carroll, D., Erhardt, S., Pagani, M., Barton, S. C., Surani, M. A., & Jenuwein, T. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.13.4330-4336.2001 · Cited by 908
Altered Hox expression and segmental identity in Mll-mutant mice
Yu, B., Hess, J. L., Horning, S. E., Brown, G. A. J., & Korsmeyer, S. J. (1995) · Nature · doi:10.1038/378505a0 · Cited by 872
The interplay of histone modifications – writers that read
Zhang, T., Cooper, S., & Brockdorff, N. (2015) · EMBO Reports · doi:10.15252/embr.201540945 · Cited by 867
PCGF Homologs, CBX Proteins, and RYBP Define Functionally Distinct PRC1 Family Complexes
Gao, Z., Zhang, J., Bonasio, R., Strino, F., Sawai, A., Parisi, F., Kluger, Y., & Reinberg, D. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.01.002 · Cited by 852
A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project
Carithers, L. J., Ardlie, K., Barcus, M., Branton, P. A., Britton, A., Buia, S. A., Compton, C. C., DeLuca, D. S., Peter-Demchok, J., Gelfand, E. T., et al. (2015) · Biopreservation and Biobanking · doi:10.1089/bio.2015.0032 · Cited by 833
Neuroanatomical correlates of pleasant and unpleasant emotion
Lane, R. D., Reiman, E. M., Bradley, M. M., Lang, P. J., Ahern, G. L., Davidson, R. J., & Schwartz, G. E. (1997) · Neuropsychologia · doi:10.1016/s0028-3932(97)00070-5 · Cited by 830 · cited 2×
“This highlights the cortex as the area with the highest levels, with particular emphasis in the Brodmann area 9 (BA9), which is involved in various higher cognitive functions often disrupted in multiple NDDs and ASD, including empathy and processing of pleasant and unpleasant emotions(Carlén, 2017; Lane et al., 1997)…”
Thymine DNA Glycosylase Can Rapidly Excise 5-Formylcytosine and 5-Carboxylcytosine
Maiti, A., & Drohat, A. C. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.c111.284620 · Cited by 825
Wysocka, J., Swigut, T., Milne, T. A., Dou, Y., Zhang, X., Burlingame, A. L., Roeder, R. G., Brivanlou, A. H., & Allis, C. D. (2005) · Cell · doi:10.1016/j.cell.2005.03.036 · Cited by 820
Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Bernier, R., Golzio, C., Xiong, B., Stessman, H. A., Coe, B. P., Penn, O., Witherspoon, K., Gerdts, J., Baker, C., Vulto-van Silfhout, A. T., et al. (2014) · Cell · doi:10.1016/j.cell.2014.06.017 · Cited by 798
Epigenetic inheritance during the cell cycle
Probst, A. V., Dunleavy, E. M., & Almouzni, G. (2009) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2640 · Cited by 793
Regulation of MLL1 H3K4 methyltransferase activity by its core components
Dou, Y., Milne, T. A., Ruthenburg, A. J., Lee, S., Lee, J. W., Verdine, G. L., Allis, C. D., & Roeder, R. G. (2006) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1128 · Cited by 770
Increased dendritic spine densities on cortical projection neurons in autism spectrum disorders
Hutsler, J. J., & Zhang, H. (2010) · Brain Research · doi:10.1016/j.brainres.2009.09.120 · Cited by 765
Chromatin structure and the inheritance of epigenetic information
Margueron, R., & Reinberg, D. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2752 · Cited by 761
Acetylation of the p53 DNA-binding domain regulates apoptosis induction.
Sykes, S. M., Mellert, H. S., Holbert, M. A., Li, K., Marmorstein, R., Lane, W. S., & McMahon, S. B. (2006) · Molecular Cell · doi:10.1016/j.molcel.2006.11.026 · Cited by 752
A model for transmission of the H3K27me3 epigenetic mark
Hansen, K. H., Bracken, A. P., Pasini, D., Dietrich, N., Gehani, S. S., Monrad, A., Rappsilber, J., Lerdrup, M., & Helin, K. (2008) · Nature Cell Biology · doi:10.1038/ncb1787 · Cited by 748
Intragenic DNA methylation prevents spurious transcription initiation
Neri, F., Rapelli, S., Krepelova, A., Incarnato, D., Parlato, C., Basile, G., Maldotti, M., Anselmi, F., & Oliviero, S. (2017) · Nature · doi:10.1038/nature21373 · Cited by 739
Lessard, J., Wu, J. I., Ranish, J. A., Wan, M., Winslow, M. M., Staahl, B. T., Wu, H., Aebersold, R., Graef, I. A., & Crabtree, G. R. (2007) · Neuron · doi:10.1016/j.neuron.2007.06.019 · Cited by 735
Therapeutic application of histone deacetylase inhibitors for central nervous system disorders
Kazantsev, A. G., & Thompson, L. M. (2008) · Nature Reviews Drug Discovery · doi:10.1038/nrd2681 · Cited by 726
A fraction of the mouse genome that is derived from islands of nonmethylated, CpG-rich DNA
Bird, A. P., Taggart, M. H., Frommer, M., Miller, O. J., & Macleod, D. (1985) · Cell · doi:10.1016/0092-8674(85)90312-5 · Cited by 714
Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases
Hong, S., Cho, Y., Yu, L., Yu, H., Veenstra, T. D., & Ge, K. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707292104 · Cited by 714
Distribution, recognition and regulation of non-CpG methylation in the adult mammalian brain
Guo, J. U., Su, Y., Shin, J. H., Shin, J., Li, H., Xie, B., Zhong, C., Hu, S., Le, T., Fan, G., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3607 · Cited by 714
CBP/p300-mediated acetylation of histone H3 on lysine 56
Das, C., Lucia, M. S., Hansen, K. C., & Tyler, J. K. (2009) · Nature · doi:10.1038/nature07861 · Cited by 698
Hijacked in cancer: the KMT2 (MLL) family of methyltransferases
Rao, R. C., & Dou, Y. (2015) · Nature reviews. Cancer · doi:10.1038/nrc3929 · Cited by 680
Identification of a mammalian protein that binds specifically to DNA containing methylated CpGs
Meehan, R. R., Lewis, J., McKay, S. J., Kleiner, E., & Bird, A. P. (1989) · Cell · doi:10.1016/0092-8674(89)90430-3 · Cited by 677
Kaikkonen, M. U., Spann, N. J., Heinz, S., Romanoski, C. E., Allison, K. A., Stender, J. D., Chun, H. B., Tough, D. F., Prinjha, R. K., Benner, C., et al. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.07.010 · Cited by 672
Yokoyama, A., Wang, Z., Wysocka, J., Sanyal, M., Aufiero, D. J., Kitabayashi, I., Herr, W., & Cleary, M. L. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.13.5639-5649.2004 · Cited by 654
Neural progenitors, neurogenesis and the evolution of the neocortex
Florio, M., & Huttner, W. Β. (2014) · Development · doi:10.1242/dev.090571 · Cited by 654
CHD7 cooperates with PBAF to control multipotent neural crest formation
Bajpai, R., Chen, D. A., Rada-Iglesias, Á., Zhang, J., Xiong, Y., Helms, J. A., Chang, C., Zhao, Y., Swigut, T., & Wysocka, J. (2010) · Nature · doi:10.1038/nature08733 · Cited by 634
L1 retrotransposition in neurons is modulated by MeCP2
Muotri, A. R., Marchetto, M. C. N., Coufal, N. G., Oefner, R., Yeo, G., Nakashima, K., & Gage, F. H. (2010) · Nature · doi:10.1038/nature09544 · Cited by 626
Nucleosome-Interacting Proteins Regulated by DNA and Histone Methylation
Bartke, T., Vermeulen, M., Xhemalce, B., Robson, S. C., Mann, M., & Kouzarides, T. (2010) · Cell · doi:10.1016/j.cell.2010.10.012 · Cited by 611
Hermann, A., Goyal, R., & Jeltsch, A. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m403427200 · Cited by 593
Tavares, L., Dimitrova, E., Oxley, D., Webster, J. A., Poot, R. A., Demmers, J., Bezstarosti, K., Taylor, S., Ura, H., Koide, H., et al. (2012) · Cell · doi:10.1016/j.cell.2011.12.029 · Cited by 583
What constitutes the prefrontal cortex?
Carlén, M. (2017) · Science · doi:10.1126/science.aan8868 · Cited by 561
Mosaic Copy Number Variation in Human Neurons
McConnell, M. J., Lindberg, M. R., Brennand, K. J., Piper, J. C., Voet, T., Cowing-Zitron, C., Shumilina, S., Lasken, R. S., Vermeesch, J. R., Hall, I. M., et al. (2013) · Science · doi:10.1126/science.1243472 · Cited by 551
Niikawa, N., Matsuura, N., Fukushima, Y., Ohsawa, T., & Kajii, T. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80255-7 · Cited by 545
From neural development to cognition: unexpected roles for chromatin
Ronan, J. L., Wu, W., & Crabtree, G. R. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3413 · Cited by 544
Bmi1 is essential for cerebellar development and is overexpressed in human medulloblastomas
Leung, C., Lingbeek, M., Shakhova, O., Liu, J. K., Tanger, E., Saremaslani, P., van Lohuizen, M., & Marino, S. (2004) · Nature · doi:10.1038/nature02385 · Cited by 541
Lee, J.-E., Wang, C., Xu, S., Cho, Y.-W., Wang, L., Feng, X., Baldridge, A., Sartorelli, V., Zhuang, L., Peng, W., et al. (2013) · eLife · doi:10.7554/elife.01503 · Cited by 522
Cortical Evolution: Judge the Brain by Its Cover
Geschwind, D. H., & Rakic, P. (2013) · Neuron · doi:10.1016/j.neuron.2013.10.045 · Cited by 519
Broad Thumbs and Toes and Facial Abnormalities
Rubinstein, J. H. (1963) · American journal of diseases of children · doi:10.1001/archpedi.1963.02080040590010 · Cited by 518
Yamane, K., Tateishi, K., Klose, R. J., Fang, J., Fabrizio, L. A., Erdjument‐Bromage, H., Taylor‐Papadimitriou, J., Tempst, P., & Zhang, Y. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.03.001 · Cited by 505
Supravalvular Aortic Stenosis in Association with Mental Retardation and a Certain Facial Appearance
Beuren, A. J., Apitz, J., & Harmjanz, D. (1962) · Circulation · doi:10.1161/01.cir.26.6.1235 · Cited by 499
Targeted disruption of DNMT1, DNMT3A and DNMT3B in human embryonic stem cells
Liao, J., Karnik, R., Gu, H., Ziller, M. J., Clement, K., Tsankov, A. M., Akopian, V., Gifford, C. A., Donaghey, J., Galonska, C., et al. (2015) · Nature Genetics · doi:10.1038/ng.3258 · Cited by 495
Trithorax group proteins: switching genes on and keeping them active
Schuettengruber, B., Martinez, A., Iovino, N., & Cavalli, G. (2011) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3230 · Cited by 478
Pereira, J. D., Sansom, S. N., Smith, J. C., Dobenecker, M., Tarakhovsky, A., & Livesey, F. J. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002530107 · Cited by 465
Kuroki, Y., Suzuki, Y., Chyo, H., Hata, A., & Matsui, I. (1981) · The Journal of Pediatrics · doi:10.1016/s0022-3476(81)80256-9 · Cited by 462
Dynamics and Memory of Heterochromatin in Living Cells
Hathaway, N. A., Bell, O., Hodges, C., Miller, E. L., Neel, D. S., & Crabtree, G. R. (2012) · Cell · doi:10.1016/j.cell.2012.03.052 · Cited by 446
Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss
Klein, C. J., Botuyan, M. V., Wu, Y., Ward, C. J., Nicholson, G. A., Hammans, S. R., Hojo, K., Yamanishi, H., Karpf, A. R., Wallace, D. C., et al. (2011) · Nature Genetics · doi:10.1038/ng.830 · Cited by 418
Dorighi, K. M., Swigut, T., Henriques, T., Bhanu, N. V., Scruggs, B. S., Nady, N., Still, C. D., Garcia, B. A., Adelman, K., & Wysocka, J. (2017) · Molecular Cell · doi:10.1016/j.molcel.2017.04.018 · Cited by 403
Angelman syndrome — insights into a rare neurogenetic disorder
Buiting, K., Williams, C. A., & Horsthemke, B. (2016) · Nature Reviews Neurology · doi:10.1038/nrneurol.2016.133 · Cited by 398
Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A. C., Geneviève, D., Cormier‐Daire, V., Esch, H. V., Fryns, J., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505693 · Cited by 395
THE POLYCOMB AND TRITHORAX GROUP PROTEINS OF DROSOPHILA: Trans-Regulators of Homeotic Gene Function
Kennison, J. A. (1995) · Annual Review of Genetics · doi:10.1146/annurev.ge.29.120195.001445 · Cited by 395
Chromatin remodelling factor Mll1 is essential for neurogenesis from postnatal neural stem cells
Lim, D. A., Huang, Y.-C., Swigut, T., Mirick, A. L., García‐Verdugo, J. M., Wysocka, J., Ernst, P., & Álvarez-Buylla, A. (2009) · Nature · doi:10.1038/nature07726 · Cited by 390
Wysocka, J., Myers, M. P., Laherty, C. D., Eisenman, R. N., & Herr, W. (2003) · Genes & Development · doi:10.1101/gad.252103 · Cited by 390
A histone H3 lysine 36 trimethyltransferase links Nkx2-5 to Wolf–Hirschhorn syndrome
Nimura, K., Ura, K., Shiratori, H., Ikawa, M., Okabe, M., Schwartz, R. J., & Kaneda, Y. (2009) · Nature · doi:10.1038/nature08086 · Cited by 379
Chromatin remodelling in mammalian differentiation: lessons from ATP-dependent remodellers
de la Serna, I. L., Ohkawa, Y., & Imbalzano, A. N. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1882 · Cited by 376
Targeted Disruption of Mouse Yin Yang 1 Transcription Factor Results in Peri-Implantation Lethality
Donohoe, M. E., Zhang, X., McGinnis, L. K., Biggers, J. D., Li, E., & Shi, Y. (1999) · Molecular and Cellular Biology · doi:10.1128/mcb.19.10.7237 · Cited by 375
Lederer, D., Grisart, B., Digilio, M. C., Benoît, V., Crespin, M., Ghariani, S., Maystadt, I., Dallapiccola, B., & Verellen‐Dumoulin, C. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.021 · Cited by 374
Ekwall, K., Olsson, T., Turner, B. M., Cranston, G., & Allshire, R. C. (1997) · Cell · doi:10.1016/s0092-8674(00)80492-4 · Cited by 368
Tatton‐Brown, K., Seal, S., Ruark, E., Harmer, J. E., Ramsay, E., Duarte, S. D. V., Zachariou, A., Hanks, S., O’Brien, E. M., Aksglæde, L., et al. (2014) · Nature Genetics · doi:10.1038/ng.2917 · Cited by 367
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism
On behalf of the Klinefelter ItaliaN Group (KING), Bonomi, M., Rochira, V., Pasquali, D., Balercia, G., Jannini, E. A., & Ferlin, A. (2016) · Journal of Endocrinological Investigation · doi:10.1007/s40618-016-0541-6 · Cited by 366
Beck, D. B., Oda, H., Shen, S. S., & Reinberg, D. (2012) · Genes & Development · doi:10.1101/gad.177444.111 · Cited by 355
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Helsmoortel, C., Vulto-van Silfhout, A. T., Coe, B. P., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J. H. M., Marcelis, C. L., Willemsen, M. H., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.2899 · Cited by 354
The BAH domain of ORC1 links H4K20me2 to DNA replication licensing and Meier–Gorlin syndrome
Kuo, A. J., Song, J., Cheung, P., Ishibe-Murakami, S., Yamazoe, S., Chen, J., Patel, D. J., & Gozani, O. (2012) · Nature · doi:10.1038/nature10956 · Cited by 349
NSD1 is essential for early post‐implantation development and has a catalytically active SET domain
Rayasam, G. V., Wendling, O., Angrand, P., Mark, M. P., Niederreither, K., Song, L., Lerouge, T., Hager, G. L., Chambon, P., & Losson, R. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg288 · Cited by 343
Sugathan, A., Biagioli, M., Golzio, C., Erdin, S., Blumenthal, I., Manavalan, P., Ragavendran, A., Brand, H., Lucente, D., Miles, J., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405266111 · Cited by 342
An AUTS2–Polycomb complex activates gene expression in the CNS
Gao, Z., Lee, P., Stafford, J. M., von Schimmelmann, M. J., Schaefer, A., & Reinberg, D. (2014) · Nature · doi:10.1038/nature13921 · Cited by 339
Comparing the human and chimpanzee genomes: Searching for needles in a haystackPreprint
Varki, A. P., & Altheide, T. K. (2005) · Genome Research · doi:10.1101/gr.3737405 · Cited by 339
What are memories made of? How Polycomb and Trithorax proteins mediate epigenetic memory
Steffen, P. A., & Ringrose, L. (2014) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3789 · Cited by 336
On the use of the word ‘epigenetic’
Ptashne, M. (2007) · Current Biology · doi:10.1016/j.cub.2007.02.030 · Cited by 335
Mutations in EZH2 Cause Weaver Syndrome
Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R. A., Mungall, A. J. J., Eydoux, P., Babul‐Hirji, R., An, J., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.018 · Cited by 328
Enhancer biology and enhanceropathies
Smith, E. R., & Shilatifard, A. (2014) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2784 · Cited by 326
Hennekam, R. C. M. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201594 · Cited by 326
Zweier, C., Peippo, M. M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., Reardon, W., Saraiva, J., Cabral, A., Göhring, I., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/515583 · Cited by 317
Down syndrome and the complexity of genome dosage imbalance
Antonarakis, S. E. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.154 · Cited by 312
Lee, J. S., Galvin, K. M., See, R. H., Eckner, R., Livingston, D. M., Moran, E. M., & Shi, Y. (1995) · Genes & Development · doi:10.1101/gad.9.10.1188 · Cited by 311
Hu, E., Chen, Z., Fredrickson, T., Zhu, Y., Kirkpatrick, R., Zhang, G.-F., Johanson, K., Sung, C.-M., Liu, R., & Winkler, J. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m908988199 · Cited by 309
Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development
Qi, H. H., Sarkissian, M., Hu, G., Wang, Z., Bhattacharjee, A., Gordon, D. B., Gonzales, M., Lan, F., Ongusaha, P. P., Huarte, M., et al. (2010) · Nature · doi:10.1038/nature09261 · Cited by 303
Certain and Progressive Methylation of Histone H4 at Lysine 20 during the Cell Cycle
Pesavento, J. J., Yang, H., Kelleher, N. L., & Mizzen, C. A. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.01517-07 · Cited by 302
JMJD3 is a histone H3K27 demethylase
Xiang, Y., Zhu, Z., Han, G., Lin, H., Xu, L., & Chen, C. D. (2007) · Cell Research · doi:10.1038/cr.2007.83 · Cited by 301
Li, Y., Trojer, P., Xu, C., Cheung, P., Kuo, A. J., Drury, W. J., Qiao, Q., Neubert, T. A., Xu, R.-M., Gozani, O., et al. (2009) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.034462 · Cited by 300
YY1 and CTCF orchestrate a 3D chromatin looping switch during early neural lineage commitment
Beagan, J. A., Duong, M. T., Titus, K. R., Zhou, L., Cao, Z., Ma, J., Lachanski, C. V., Gillis, D. R., & Phillips-Cremins, J. E. (2017) · Genome Research · doi:10.1101/gr.215160.116 · Cited by 299
Denissov, S., Hofemeister, H., Marks, H., Kranz, A., Ciotta, G., Singh, S., Anastassiadis, K., Stunnenberg, H. G., & Stewart, A. F. (2014) · Development · doi:10.1242/dev.102681 · Cited by 297
Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development
Glaser, S. P., Schaft, J., Lubitz, S., Vintersten, K., van der Hoeven, F., Tufteland, K. R., Aasland, R., Anastassiadis, K., Ang, S., & Stewart, A. F. (2006) · Development · doi:10.1242/dev.02302 · Cited by 294
Mozzetta, C., Pontis, J., Fritsch, L., Robin, P., Portoso, M., Proux, C., Margueron, R., & Ait‐Si‐Ali, S. (2014) · Molecular Cell · doi:10.1016/j.molcel.2013.12.005 · Cited by 288
Zippo, A., Robertis, A. D., Serafini, R., & Oliviero, S. (2007) · Nature Precedings · doi:10.1038/ncb1618 · Cited by 284
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Jones, W. D., Dafou, D., McEntagart, M., Woollard, W. J., Elmslie, F., Holder‐Espinasse, M., Irving, M. D., Saggar, A. K., Smithson, S., Trembath, R. C., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.06.008 · Cited by 283
Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells
Wei, P.-C., Chang, A. N., Kao, J., Du, Z., Meyers, R. M., Alt, F. W., & Schwer, B. (2016) · Cell · doi:10.1016/j.cell.2015.12.039 · Cited by 280
Laible, G., Wolf, A., Dorn, R., Reuter, G., Nislow, C., Lebersorger, A., Popkin, D., Pillus, L., & Jenuwein, T. (1997) · The EMBO Journal · doi:10.1093/emboj/16.11.3219 · Cited by 279
Tropberger, P., Pott, S., Keller, C., Kamieniarz-Gdula, K., Caron, M. J., Richter, F. M., Li, G., Mittler, G., Liu, E. T., Bühler, M., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.032 · Cited by 272
MLL2 Is Required in Oocytes for Bulk Histone 3 Lysine 4 Trimethylation and Transcriptional Silencing
Andreu‐Vieyra, C., Chen, R., Agno, J. E., Glaser, S. P., Anastassiadis, K., Stewart, A. F., & Matzuk, M. M. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000453 · Cited by 272
Cheung, A. Y. L., Horvath, L. M., Grafodatskaya, D., Pasceri, P., Weksberg, R., Hotta, A., Carrel, L., & Ellis, J. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr093 · Cited by 271
Identification and Characterization of a Novel Human Histone H3 Lysine 36-specific Methyltransferase
Sun, X., Wei, J., Wu, X., Hu, M., Wang, L., Wang, H.-H., Zhang, Q.-H., Chen, S., Huang, Q.-H., & Chen, Z. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m504012200 · Cited by 270
Ricciardi, S., Ungaro, F., Hambrock, M., Rademacher, N., Stefanelli, G., Brambilla, D., Sessa, A., Magagnotti, C., Bachi, A., Giarda, E., et al. (2012) · Nature Cell Biology · doi:10.1038/ncb2566 · Cited by 266
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W. M., Fencková, M., van den Akker, W. M. R., Kasri, N. N., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.003 · Cited by 264
McConnell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., et al. (2017) · Science · doi:10.1126/science.aal1641 · Cited by 262
CHD7 Targets Active Gene Enhancer Elements to Modulate ES Cell-Specific Gene Expression
Schnetz, M. P., Handoko, L., Akhtar‐Zaidi, B., Bartels, C. F., Pereira, C., Fisher, A. G., Adams, D. J., Flicek, P., Crawford, G. E., LaFramboise, T., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001023 · Cited by 260
Wang, P., Mokhtari, R., Pedrosa, E., Kirschenbaum, M. A., Bayrak, C., Zheng, D., & Lachman, H. M. (2017) · Molecular Autism · doi:10.1186/s13229-017-0124-1 · Cited by 260
Brain Size and Folding of the Human Cerebral Cortex
Toro, R., Perron, M., Pike, G. B., Richer, L., Veillette, S., Pausová, Z., & Paus, T. (2008) · Cerebral Cortex · doi:10.1093/cercor/bhm261 · Cited by 254
TrxG and PcG Proteins but Not Methylated Histones Remain Associated with DNA through Replication
Petruk, S., Sedkov, Y., Johnston, D. M., Hodgson, J. W., Black, K. L., Kovermann, S. K., Beck, S., Canaani, E., Brock, H. W., & Mazo, A. (2012) · Cell · doi:10.1016/j.cell.2012.06.046 · Cited by 251
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Meyer, E., Study, D. D. D., Carss, K., Rankin, J., Nichols, J. M. E., Grozeva, D., Joseph, A. P., Mencacci, N. E., Papandreou, A., Ng, J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3740 · Cited by 245
Enhancer priming by H3K4 methyltransferase MLL4 controls cell fate transition
Wang, C., Lee, J.-E., Lai, B., Macfarlan, T. S., Xu, S., Zhuang, L., Liu, C., Peng, W., & Ge, K. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1606857113 · Cited by 242
Ciernia, A. V., Matheos, D. P., Barrett, R. M., Kramár, E. A., Azzawi, S., Chen, Y., Magnan, C. N., Zeller, M. D., Sylvain, A. S., Häettig, J., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3359 · Cited by 241
Cruz-Molina, S., Respuela, P., Tebartz, C., Kolovos, P., Nikolic, M., Fueyo, R., van Ijcken, W. F. J., Grosveld, F., Frommolt, P., Bazzi, H., et al. (2017) · Cell Stem Cell · doi:10.1016/j.stem.2017.02.004 · Cited by 240
Sanlaville, D., Etchevers, H., Gonzalès, M., Martinovic, J., Clément‐Ziza, M., Delezoide, A., Aubry, M. C., Pelet, A., Chemouny, S., Cruaud, C., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036160 · Cited by 238
WSTF–ISWI chromatin remodeling complex targets heterochromatic replication foci
Bozhenok, L., Wade, P. A., & Varga‐Weisz, P. (2002) · The EMBO Journal · doi:10.1093/emboj/21.9.2231 · Cited by 236
Cheung, I., Shulha, H. P., Jiang, Y., Matevossian, A., Wang, J., Weng, Z., & Akbarian, S. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1001702107 · Cited by 235
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., et al. (2012) · Nature Genetics · doi:10.1038/ng.2262 · Cited by 232
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders
Sokpor, G., Xie, Y., Rosenbusch, J., & Tuoc, T. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00243 · Cited by 230
Tatton‐Brown, K., Loveday, C., Yost, S. E., Clarke, M., Ramsay, E., Zachariou, A., Elliott, A., Wylie, H., Ardissone, A., Rittinger, O., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.010 · Cited by 229
A Peek into the Complex Realm of Histone Phosphorylation
Banerjee, T., & Chakravarti, D. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.05631-11 · Cited by 228
Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt366 · Cited by 223
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., et al. (2013) · Human Mutation · doi:10.1002/humu.22394 · Cited by 221
Causal role for inheritance of H3K27me3 in maintaining the OFF state of a Drosophila HOX gene
Coleman, R. T., & Struhl, G. (2017) · Science · doi:10.1126/science.aai8236 · Cited by 221
Genome-wide nucleosome specificity and function of chromatin remodellers in ES cells
de Dieuleveult, M., Yen, K., Hmitou, I., Depaux, A., Boussouar, F., Dargham, D. B., Jounier, S., Humbertclaude, H., Ribiérre, F., Baulard, C., et al. (2016) · Nature · doi:10.1038/nature16505 · Cited by 220
Vulih-Shultzman, I., Pinhasov, A., Mandel, S., Grigoriadis, N., Touloumi, O., Pittel, Z., & Gozes, I. (2007) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.107.129551 · Cited by 219 · cited 1×
“In mice, the depletion of Adnp is embryonic lethal, and the heterozygous model is affected by cognitive deficits and neurodegeneration (Vulih-Shultzman et al., 2007).”
Rickels, R., Herz, H.-M., Sze, C. C., Cao, K., Morgan, M. A., Collings, C. K., Gause, M., Takahashi, Y.-H., Wang, L., Rendleman, E. J., et al. (2017) · Nature Genetics · doi:10.1038/ng.3965 · Cited by 217
Ninkovic, J., Steiner-Mezzadri, A., Jawerka, M., Akinci, U., Masserdotti, G., Petricca, S., Fischer, J., von Holst, A., Beckers, J., Lie, D. C., et al. (2013) · Cell stem cell · doi:10.1016/j.stem.2013.07.002 · Cited by 216
KDM6A Point Mutations Cause Kabuki Syndrome
Miyake, N., Mizuno, S., Okamoto, N., Ohashi, H., Shiina, M., Ogata, K., Tsurusaki, Y., Nakashima, M., Saitsu, H., Niikawa, N., et al. (2012) · Human Mutation · doi:10.1002/humu.22229 · Cited by 216
The Histone H3 Lysine 27-Specific Demethylase Jmjd3 Is Required for Neural Commitment
Burgold, T., Spreafico, F., Santa, F. D., Totaro, M. G., Prosperini, E., Natoli, G., & Testa, G. (2008) · PLoS ONE · doi:10.1371/journal.pone.0003034 · Cited by 216
Self-citationFourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Van der Aa, N., Rooms, L., Vandeweyer, G., van den Ende, J., Reyniers, E., Fichera, M., Romano, C., Delle Chiaie, B., Mortier, G., Menten, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.02.006 · Cited by 216
Hakimi, M., Dong, Y., Lane, W. S., Speicher, D. W., & Shiekhattar, R. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m208992200 · Cited by 214
Terranova, R., Agherbi, H., Boned, A., Méresse, S., & Djabali, M. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0507425103 · Cited by 214
Epigenetic regulation and chromatin remodeling in learning and memory
Kim, S., & Kaang, B. (2017) · Experimental & Molecular Medicine · doi:10.1038/emm.2016.140 · Cited by 214
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
Laumonnier, F., Holbert, S., Ronce, N., Faravelli, F., Lenzner, S., Schwartz, C. E., Lespinasse, J., Esch, H. V., Lacombe, D., Goizet, C., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.029439 · Cited by 213
Differential Histone H3 Lys-9 and Lys-27 Methylation Profiles on the X Chromosome
Rougeulle, C., Chaumeil, J., Sarma, K., Allis, C. D., Reinberg, D., Avner, P. R., & Heard, É. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.12.5475-5484.2004 · Cited by 213
Infrequently transcribed long genes depend on the Set2/Rpd3S pathway for accurate transcriptionPreprint
Li, B., Gogol, M., Carey, M., Pattenden, S. G., Seidel, C. W., & Workman, J. L. (2007) · Genes & Development · doi:10.1101/gad.1539307 · Cited by 213
Neuronal maturation defect in induced pluripotent stem cells from patients with Rett syndrome
Kim, K., Hysolli, E., & Park, I. (2011) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1018979108 · Cited by 212
Ananiev, G. E., Williams, E. C., Li, H., & Chang, Q. (2011) · PLoS ONE · doi:10.1371/journal.pone.0025255 · Cited by 210
A YY1–INO80 complex regulates genomic stability through homologous recombination–based repair
Wu, S., Shi, Y. G., Mulligan, P., Gay, F., Landry, J. W., Liu, H., Lu, J., Qi, H. H., Wang, W., Nickoloff, J. A., et al. (2007) · Nature Structural & Molecular Biology · doi:10.1038/nsmb1332 · Cited by 208
Colantuoni, C., Jeon, O., Hyder, K., Chenchik, A. A., Khimani, A. H., Narayanan, V., Hoffman, E. P., Kaufmann, W. E., Naidu, S., & Pevsner, J. (2001) · Neurobiology of Disease · doi:10.1006/nbdi.2001.0428 · Cited by 205
Loss-of-Function Variants in Schizophrenia Risk and SETD1A as a Candidate Susceptibility Gene
Takata, A., Xu, B., Ionita-Laza, I., Roos, J. L., Gogos, J. A., & Karayiorgou, M. (2014) · Neuron · doi:10.1016/j.neuron.2014.04.043 · Cited by 204
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Rinaldi, L., Datta, D., Serrat, J., Morey, L., Solanas, G., Avgustinova, A., Blanco, E., Pons, J., Matallanas, D., von Kriegsheim, A., et al. (2016) · Cell stem cell · doi:10.1016/j.stem.2016.06.020 · Cited by 201
The Mll2 branch of the COMPASS family regulates bivalent promoters in mouse embryonic stem cells
Hu, D., Garruss, A. S., Gao, X., Morgan, M. A., Cook, M. E., Smith, E. R., & Shilatifard, A. (2013) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2653 · Cited by 200
Butcher, D. T., Cytrynbaum, C., Turinsky, A. L., Siu, M. T., Inbar-Feigenberg, M., Mendoza-Londono, R., Chitayat, D., Walker, S., Machado, J., Caluseriu, O., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.004 · Cited by 200
Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A., Talkowski, M. E., Simonic, I., Lionel, A. C., Vergult, S., Pyatt, R. E., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.12.011 · Cited by 198
Epigenetic Signatures of Autism: Trimethylated H3K4 Landscapes in Prefrontal Neurons
Shulha, H. P. (2012) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2011.151 · Cited by 196
Bjornsson, H. T., Benjamin, J. S., Zhang, L., Weissman, J., Gerber, E. E., Chen, Y.-C., Vaurio, R. G., Potter, M. C., Hansen, K. D., & Dietz, H. C. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3009278 · Cited by 196
Evolution and diversity of copy number variation in the great ape lineagePreprint
Sudmant, P. H., Huddleston, J., Catacchio, C. R., Malig, M., Hillier, L. W., Baker, C., Mohajeri, K., Kondova, I. I., Bontrop, R. E., Persengiev, S. P., et al. (2013) · Genome Research · doi:10.1101/gr.158543.113 · Cited by 195
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Chailangkarn, T., Trujillo, C. A., Freitas, B. C., Hrvoj-Mihic, B., Herai, R. H., Yu, D. X., Brown, T. T., Marchetto, M. C., Bardy, C., McHenry, L., et al. (2016) · Nature · doi:10.1038/nature19067 · Cited by 195
Blobel, G. A., Kadauke, S., Wang, E., Lau, A. W., Zuber, J. A., Chou, M. M., & Vakoc, C. R. (2009) · Molecular Cell · doi:10.1016/j.molcel.2009.12.001 · Cited by 194
Rechtsteiner, A., Ercan, S., Takasaki, T., Phippen, T., Egelhofer, T. A., Wang, W., Kimurâ, H., Lieb, J. D., & Strome, S. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001091 · Cited by 193
Bledau, A. S., Schmidt, K., Neumann, K., Hill, U., Ciotta, G., Gupta, A. K., Torres, D. C., Fu, J., Kranz, A., Stewart, A. F., et al. (2014) · Development · doi:10.1242/dev.098152 · Cited by 192
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Meloni, M., & Testa, G. (2014) · BioSocieties · doi:10.1057/biosoc.2014.22 · Cited by 189
Self-citation
Flagged first, then by citations
8 of the 329 references couldn’t be matched to a known paper.
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
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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
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
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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.
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