The clinical presentation caused by truncating CHD8 variants

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature · doi:10.1038/nature19057 · Cited by 9,587 · see citing works

Autism

Lai, M.-C., Lombardo, M. V., & Baron-Cohen, S. (2014) · The Lancet · doi:10.1016/s0140-6736(13)61539-1 · Cited by 2,371 · see citing works

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 · see citing works

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084 · see citing works

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734 · see citing works

De Novo Gene Disruptions in Children on the Autistic Spectrum

Iossifov, I., Ronemus, M., Levy, D., Wang, Z., Hakker, I., Rosenbaum, J., Yamrom, B., Lee, Y.-H., Narzisi, G., Leotta, A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.04.009 · Cited by 1,446 · see citing works

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science · doi:10.1126/science.1227764 · Cited by 1,240 · see citing works

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 · see citing works

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Jacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., Beckmann, J. S., Rosenfeld, J. A., & Eichler, E. E. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.02.001 · Cited by 605 · see citing works

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell · doi:10.1016/j.cell.2012.03.028 · Cited by 577 · see citing works

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Stessman, H. A. F., Xiong, B., Coe, B. P., Wang, T., Hoekzema, K., Fenckova, M., Kvarnung, M., Gerdts, J., Trinh, S., Cosemans, N., et al. (2017) · Nature Genetics · doi:10.1038/ng.3792 · Cited by 559 · see citing works

The Chd family of chromatin remodelers

Marfella, C. G. A., & Imbalzano, A. N. (2007) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2006.07.012 · Cited by 432 · see citing works

A de novo convergence of autism genetics and molecular neuroscience

Krumm, N., O’Roak, B. J., Shendure, J., & Eichler, E. E. (2014) · Trends in Neurosciences · doi:10.1016/j.tins.2013.11.005 · Cited by 423 · see citing works

CHD8 haploinsufficiency results in autistic-like phenotypes in mice

Katayama, Y., Nishiyama, M., Shoji, H., Ohkawa, Y., Kawamura, A., Sato, T., Suyama, M., Takumi, T., Miyakawa, T., & Nakayama, K. I. (2016) · Nature · doi:10.1038/nature19357 · Cited by 353 · see citing works

The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

Cotney, J., Muhle, R. A., Sanders, S. J., Liu, L., Willsey, A. J., Niu, W., Liu, W., Klei, L., Lei, J., Yin, J., et al. (2015) · Nature Communications · doi:10.1038/ncomms7404 · Cited by 350 · see citing works

Germline Chd8 haploinsufficiency alters brain development in mouse

Gompers, A. L., Su-Feher, L., Ellegood, J., Copping, N. A., Riyadh, M. A., Stradleigh, T. W., Pride, M. C., Schaffler, M. D., Wade, A. A., Catta-Preta, R., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4592 · Cited by 266 · see citing works

Chd8 Mutation Leads to Autistic-like Behaviors and Impaired Striatal Circuits

Platt, R. J., Zhou, Y., Slaymaker, I. M., Shetty, A. S., Weisbach, N. R., Kim, J.-A., Sharma, J., Desai, M., Sood, S., Kempton, H. R., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.03.052 · Cited by 240 · see citing works

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

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 222 · see citing works

CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates β-Catenin Target Genes

Thompson, B. A., Tremblay, V., Lin, G., & Bochar, D. A. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.00322-08 · Cited by 208 · see citing works

CHD8 suppresses p53-mediated apoptosis through histone H1 recruitment during early embryogenesis

Nishiyama, M., Oshikawa, K., Tsukada, Y.-I., Nakagawa, T., Iemura, S.-I., Natsume, T., Fan, Y., Kikuchi, A., Skoultchi, A. I., & Nakayama, K. I. (2009) · Nature Cell Biology · doi:10.1038/ncb1831 · Cited by 203 · see citing works

The Deciphering Developmental Disorders (DDD) study

FIRTH, H. V., WRIGHT, C. F., & Study, F. T. D. (2011) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2011.04032.x · Cited by 180 · see citing works

Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice

Jung, H., Park, H., Choi, Y., Kang, H., Lee, E., Kweon, H., Roh, J. D., Ellegood, J., Choi, W., Kang, J., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0208-z · Cited by 157 · see citing works

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Tatton‐Brown, K., Murray, A., Hanks, S., Douglas, J. B., Armstrong, R., Banka, S., Bird, L. M., Clericuzio, C. L., Cormier‐Daire, V., Cushing, T., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36229 · Cited by 148 · see citing works

Synaptic Wnt signaling—a contributor to major psychiatric disorders?

Okerlund, N. D., & Cheyette, B. N. R. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9083-6 · Cited by 143 · see citing works

Histone H1 Recruitment by CHD8 Is Essential for Suppression of the Wnt–β-Catenin Signaling Pathway

Nishiyama, M., Skoultchi, A. I., & Nakayama, K. I. (2011) · Molecular and Cellular Biology · doi:10.1128/mcb.06409-11 · Cited by 139 · see citing works

Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice

Suetterlin, P., Hurley, S., Mohan, C., Riegman, K. L. H., Pagani, M., Caruso, A., Ellegood, J., Galbusera, A., Crespo‐Enríquez, I., Michetti, C., et al. (2018) · Cerebral Cortex · doi:10.1093/cercor/bhy058 · Cited by 128 · see citing works

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Zahir, F., Firth, H. V., Baross, Á., Delaney, A. D., Eydoux, P., Gibson, W. T., Langlois, S., Martin, H., Willatt, L. R., Marra, M. A., et al. (2007) · Journal of Medical Genetics · doi:10.1136/jmg.2007.050823 · Cited by 98 · see citing works

Genetic and epigenetic underpinnings of sex differences in the brain and in neurological and psychiatric disease susceptibility

Qureshi, I., & Mehler, M. F. (2010) · Progress in brain research · doi:10.1016/b978-0-444-53630-3.00006-3 · Cited by 94 · see citing works

The chromatin remodeling factor CHD8 interacts with elongating RNA polymerase II and controls expression of the cyclin E2 gene

Rodríguez‐Paredes, M., Ceballos-Chávez, M., Esteller, M., García‐Domínguez, M., & Reyes, J. C. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp101 · Cited by 92 · see citing works

The chromatin remodeller CHD8 is required for E2F-dependent transcription activation of S-phase genes

Subtil-Rodríguez, A., Vázquez-Chávez, E., Ceballos-Chávez, M., Rodríguez-Paredes, M., Martín-Subero, J. I., Esteller, M., & Reyes, J. C. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1161 · Cited by 83 · see citing works

The autism spectrum phenotype in ADNP syndrome

Arnett, A. B., Rhoads, C. L., Hoekzema, K., Turner, T. N., Gerdts, J. A., Wallace, A. S., Bedrosian‐Sermone, S., Eichler, E. E., & Bernier, R. (2018) · Autism Research · doi:10.1002/aur.1980 · Cited by 68 · see citing works

Regulation of HOXA2 gene expression by the ATP‐dependent chromatin remodeling enzyme CHD8

Yates, J. A., Menon, T., Thompson, B. A., & Bochar, D. A. (2010) · FEBS Letters · doi:10.1016/j.febslet.2010.01.022 · Cited by 51 · see citing works

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

Yasin, H., Gibson, W. T., Langlois, S., Stowe, R., Tsang, E. S., Lee, L., Poon, J., Tran, G., Tyson, C., Wong, C. K., et al. (2019) · Journal of Human Genetics · doi:10.1038/s10038-019-0561-0 · Cited by 50 · see citing works

A de novo frameshift mutation in chromodomain helicase DNA‐binding domain 8 (CHD8): A case report and literature review

Merner, N. D., d’Arc, B. F., Bell, S. C., Maussion, G., Peng, H., Gauthier, J., Crapper, L., Hamdan, F. F., Michaud, J. L., Mottron, L., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37566 · Cited by 47 · see citing works

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

de Goede, C., Yue, W. W., Yan, G., Ariyaratnam, S., Chandler, K., Downes, L., Khan, N., Mohan, M., Lowe, M., & Banka, S. (2015) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2015.11.012 · Cited by 47 · see citing works

Recurrent ∼100 Kb microdeletion in the chromosomal region 14q11.2, involving CHD8 gene, is associated with autism and macrocephaly

Prontera, P., Ottaviani, V., Toccaceli, D., Rogaia, D., Ardisia, C., Romani, R., Stangoni, G., Pierini, A., & Donti, E. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36741 · Cited by 36 · see citing works

CHD8 intragenic deletion associated with autism spectrum disorder

Stolerman, E. S., Smith, B. T., Chaubey, A., & Jones, J. R. (2016) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2016.02.010 · Cited by 29 · see citing works

Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome

Stoyle, G., Banka, S., Langley, C. L. M., Jones, E. A., & Banerjee, I. (2018) · Endocrinology Diabetes and Metabolism Case Reports · doi:10.1530/edm-18-0085 · Cited by 23 · see citing works

Sex bias in autism: new insights from Chd8 mutant mice?

Andreae, L. C., & Basson, M. A. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0217-y · Cited by 9 · see citing works

Insufficient Evidence for “Autism-Specific” Genes

Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.04.004 · Cited by 165 · see citing works

The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders

Weissberg, O., & Elliott, E. (2021) · Genes · doi:10.3390/genes12081133 · Cited by 68 · see citing works

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

Ostrowski, P. J., Zachariou, A., Loveday, C., Beleza‐Meireles, A., Bértoli, M., Dean, J., Douglas, A. G. L., Ellis, I., Foster, A. C., Graham, J. M., et al. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31749 · Cited by 55 · see citing works

Chromatin Remodeler CHD8 in Autism and Brain Development

Hoffmann, A., & Spengler, D. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10020366 · Cited by 41 · see citing works

The NuRD complex and macrocephaly associated neurodevelopmental disorders

Pierson, T. M., Otero, M. G., Grand, K., Choi, A., Graham, J. M., Young, J. I., & Mackay, J. P. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31752 · Cited by 39 · see citing works

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Dingemans, A. J. M., Truijen, K. M. G., van de Ven, S., Bernier, R., Bongers, E. M. H. F., Bouman, A., de Graaff-Herder, L., Eichler, E. E., Gerkes, E. H., de Geus, C. M., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02189-1 · Cited by 36 · see citing works

CHD2-Related CNS Pathologies

Wilson, M., Henshall, D. C., Byrne, S. M., & Brennan, G. P. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22020588 · Cited by 33 · see citing works

Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes

Peall, K. J., Owen, M. J., & Hall, J. (2023) · Nature Reviews Neurology · doi:10.1038/s41582-023-00896-x · Cited by 32 · see citing works

CHD8 mutations increase gliogenesis to enlarge brain size in the nonhuman primate

Li, B., Zhao, H., Tu, Z., Yang, W., Han, R., Wang, L., Luo, X., Pan, M., Chen, X., Zhang, J., et al. (2023) · Cell Discovery · doi:10.1038/s41421-023-00525-3 · Cited by 30 · see citing works

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

Velmans, C., O’Donnell‐Luria, A., Argilli, E., Mau‐Them, F. T., Vitobello, A., Chan, M. C. Y., Fung, J. L. F., Rech, M., Abicht, A., Aubert‐Mucca, M., et al. (2021) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-107470 · Cited by 23 · see citing works

Clinically relevant copy-number variants in exome sequencing data of patients with dystonia

Zech, M., Boesch, S., Škorvánek, M., Necpál, J., Švantnerová, J., Wagner, M., Dincer, Y., Sadr‐Nabavi, A., Serranová, T., Rektorová, I., et al. (2021) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2021.02.013 · Cited by 23 · see citing works

Chd8 mutation in oligodendrocytes alters microstructure and functional connectivity in the mouse brain

Kawamura, A., Abe, Y., Seki, F., Katayama, Y., Nishiyama, M., Takata, N., Tanaka, K. F., Okano, H., & Nakayama, K. I. (2020) · Molecular Brain · doi:10.1186/s13041-020-00699-x · Cited by 22 · see citing works

Single-Cell Transcriptomics Supports a Role of CHD8 in Autism

Hoffmann, A., & Spengler, D. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22063261 · Cited by 19 · see citing works

Loss of autism-candidate CHD8 perturbs neural crest development and intestinal homeostatic balance

Hayot, G., Massonot, M., Keime, C., Faure, E., & Golzio, C. (2022) · Life Science Alliance · doi:10.26508/lsa.202201456 · Cited by 19 · see citing works

A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination

Hulbert, S. W., Wang, X., Gbadegesin, S. O., Xu, Q., Xu, X., & Jiang, Y. (2020) · Autism Research · doi:10.1002/aur.2353 · Cited by 18 · see citing works

Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma

Vaisfeld, A., Spartano, S., Gobbi, G., Vezzani, A., & Neri, G. (2020) · Epilepsia · doi:10.1111/epi.16754 · Cited by 17 · see citing works

What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of ‘Internal Medicine for Rare Genetic Syndromes’

Rosenberg, A. G. W., Pater, M. R. A., Pellikaan, K., Davidse, K., Kattentidt‐Mouravieva, A. A., Kersseboom, R., Bos‐Roubos, A. G., van Eeghen, A. M., Veen-Roelofs, J. M. C., van der Meulen, J. J., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10225457 · Cited by 19 · see citing works

A spontaneous missense mutation in the chromodomain helicase DNA‐binding protein 8 (CHD8) gene: a novel association with congenital myasthenic syndrome

Lee, C. Y., Petkova, M. V., Morales-Gonzalez, S., Gimber, N., Schmoranzer, J., Meisel, A., Boehmerle, W., Stenzel, W., Schuelke, M., & Schwarz, J. M. (2020) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12617 · Cited by 16 · see citing works

Childhood‐onset progressive dystonia associated with pathogenic truncating variants in CHD8

Doummar, D., Treven, M., Qebibo, L., Devos, D., Ghoumid, J., Ravelli, C., Kranz, G., Krenn, M., Demailly, D., Cif, L., et al. (2021) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.51444 · Cited by 13 · see citing works

CHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes

Sorrentino, U., Boesch, S., Doummar, D., Ravelli, C., Serranová, T., Indelicato, E., Winkelmann, J., Bürglen, L., Jech, R., & Zech, M. (2024) · Journal of Neurology · doi:10.1007/s00415-024-12271-x · Cited by 12 · see citing works

Epigenetic signatures in overgrowth syndromes: Translational opportunities

Cytrynbaum, C. S., Choufani, S., & Weksberg, R. (2019) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31745 · Cited by 12 · see citing works

SINEUP RNA rescues molecular phenotypes associated with CHD8 suppression in autism spectrum disorder model systems

Leva, F. D., Arnoldi, M., Santarelli, S., Massonot, M., Lemée, M. V., Bon, C., Pellegrini, M., Castellini, M. E., Zarantonello, G., Messina, A., et al. (2024) · Molecular Therapy · doi:10.1016/j.ymthe.2024.12.043 · Cited by 14 · see citing works

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

Neuhaus, E., Rea, H. M., Jones, E. D., Benavidez, H. R., Miles, C., Whiting, A., Johansson, M., Eayrs, C., Kurtz‐Nelson, E. C., Earl, R. K., et al. (2024) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-024-09532-1 · Cited by 8 · see citing works

To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental disorders

John, M. S., Tripathi, T., Morgan, A. T., & Amor, D. J. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105293 · Cited by 8 · see citing works

Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy

Perenc, L., Guzik, A., Podgórska‐Bednarz, J., & Drużbicki, M. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9113739 · Cited by 8 · see citing works

In vivo targeted DamID identifies CHD8 genomic targets in fetal mouse brain

Wade, A. A., van den Ameele, J., Cheetham, S. W., Yakob, R., Brand, A. H., & Nord, A. S. (2021) · iScience · doi:10.1016/j.isci.2021.103234 · Cited by 8 · see citing works

Molecular and clinical aspects of histone-related disorders

Ojaimi, M. A., Banimortada, B. J., Alragheb, A., Hajir, R. S., Alves, C., Walid, D., Raza, A., & El-Hattab, A. E. (2025) · Human Genomics · doi:10.1186/s40246-025-00734-9 · Cited by 3 · see citing works

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

Davidson, E. A., Holingue, C., Jiménez-Gómez, A., Dallman, J. E., & Moshiree, B. (2023) · Seminars in Neurology · doi:10.1055/s-0043-1771460 · Cited by 6 · see citing works

PhenoScore: AI-based phenomics to quantify rare disease and genetic variationPreprint

Dingemans, A. J. M., Hinne, M., Truijen, K. M. G., Goltstein, L. C. M. J., van Reeuwijk, J., de Leeuw, N., Schuurs-Hoeijmakers, J. H. M., Pfundt, R., Diets, I. J., den Hoed, J., et al. (2022) · medRxiv · doi:10.1101/2022.10.24.22281480 · Cited by 6 · see citing works

CHD8 adulthood microglial knockdown in C57BL6 mice induces behavioral, morphological, and transcriptional changes in a sex-dependent manner

Weissberg, O., Harari, R., Dogun, C., Getselter, D., & Elliott, E. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03468-3 · Cited by 5 · see citing works

Association of CHD8 Gene Polymorphic Variants with the Clinical Phenotype of Autism Spectrum Disorder

Iwanicki, T., Iwanicka, J., Balcerzyk, A., Jarosz, A., Nowak, T., Emich‐Widera, E., Kazek, B., Kapinos-Gorczyca, A., Kapinos, M., Gawron, K., et al. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13237019 · Cited by 3 · see citing works

Concurrent Developmental Regression and Neurocognitive Decline in a Child With De Novo CHD8 Gene Mutation

Paik, K. E., & Mooneyham, G. C. (2024) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2024.01.002 · Cited by 2 · see citing works

Novel CHD8 genomic targets identified in fetal mouse brain by in vivo Targeted DamIDPreprint

Wade, A. A., van den Ameele, J., Cheetham, S. W., Yakob, R., Brand, A. H., & Nord, A. S. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.01.12.426468 · Cited by 2 · see citing works

Persistent cortical excitatory neuron dysregulation in adult Chd8 haploinsufficient micePreprint

Canales, C. P., Lozano, S. A., Frost, N. A., Cichewicz, K., Amaral, W. Z., Seban, N., Fenton, E., Wade, A. A., Chu, N., Smith, E. M., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.06.04.657776 · Cited by 2 · see citing works

Barking Up the Wrong Tree—Motor–Sensory Elements as Prodrome in Autism

Lotan, M. (2024) · Biomedicines · doi:10.3390/biomedicines12061235 · Cited by 1 · see citing works

Increased cortical volume without increased neuron number in heterozygous Chd8 mutant mouse cortexPreprint

Canales, C. P., Frank, S., Bennett, J., Beauregard, P., Lavenex, P., Amaral, D. G., & Nord, A. S. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.01.11.426290 · Cited by 2 · see citing works

CHD8 -associated gastrointestinal complaints are caused by impaired vagal neural crest development and homeostatic imbalancePreprint

Hayot, G., Massonot, M., Keime, C., Faure, E., & Golzio, C. (2021) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2021.10.06.463249 · Cited by 1 · see citing works

Heterozygous nonsense variant of CHD8 in a patient with forme‐fruste Marfan syndrome and intellectual disability

Yamada, M., Yamaguchi, Y., Uehara, T., Yagihashi, T., & Kosaki, K. (2020) · Congenital Anomalies · doi:10.1111/cga.12393

Role of Gut Microbiota in the Developmental Regression of AutismPreprint

Cui, J. J., Li, H., Hu, C., Wu, D., Li, H., Luo, X., & Hao, Y. (2023) · SSRN Electronic Journal · doi:10.2139/ssrn.4627113

CHD8 adulthood microglial knockout induces behavioral, morphological, and transcriptional changes in a sex-dependent mannerPreprint

Weissberg, O., Getselter, D., & Elliott, E. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.16.599211

Intellectual Developmental Disorder and Global Developmental Delay

Sherr, E. H., & Marco, E. J. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-10944-7.00069-x

Seizures and Functional Deficits across Mendelian Disorders of Epigenetic Machinery: Differential Effects as a Function of Epigenetic Modifications

Ng, R. (2025) · Archives of Clinical Neuropsychology · doi:10.1093/arclin/acaf053

Genetically Modified Primate Models for Brain Disorder Research

Yang, Y., Lin, J., Li, M., Yang, L., Lu, Z., & Yan, T. (2025) · Neuroscience Bulletin · doi:10.1007/s12264-025-01529-7

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses

Furuta, Y., Ezell, K. M., Hamid, R., Cogan, J. D., Cassini, T. A., Rives, L. C., McMinn, A., Shah, S., Peltier, A., Layfield, S., et al. (2025) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.70165

Additional file 3 of Chd8 mutation in oligodendrocytes alters microstructure and functional connectivity in the mouse brain

Kawamura, A., Abe, Y., Seki, F., Katayama, Y., Nishiyama, M., Takata, N., Tanaka, K. F., Okano, H., & Nakayama, K. I. (2020) · Figshare · doi:10.6084/m9.figshare.13279529

Additional file 1 of Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions

Neuhaus, E., Rea, H. M., Jones, E. D., Benavidez, H. R., Miles, C., Whiting, A., Johansson, M., Eayrs, C., Kurtz‐Nelson, E. C., Earl, R. K., et al. (2024) · Figshare · doi:10.6084/m9.figshare.26706927

Molecular Interactions of Chd8 in Mouse Brain Highlights a Role in Chromatin-Associated RNA ProcessingPreprint

Smith, E., Canales, C. P., Kenaston, M. W., Seban, N., Wade, A. A., Fenton, E., Ardekani, C., Lozano, S., Chu, N. C., Perla, D., et al. (2025) · SSRN Electronic Journal · doi:10.2139/ssrn.5871048

A Novel Variant of the CHD8 Gene in a Patient with Autism Spectrum Disorder

Falcone, E., Bauleo, A., Stefano, L. D., Brando, R., Maietta, S., Tabolacci, E., Montesanto, A., Pace, V., Apa, R., Puntorieri, D., et al. (2026) · Genes · doi:10.3390/genes17060599

Male-Biased Social Deficits in Chd8+/R2219* Mouse Model of Autism Linked to Hippocampal Abnormalities

Zhang, Q. H., Qiao, Y., Li, H., Zeng, J., Chen, J., Zhou, H. J., Hu, Y., & Luo, J. (2026) · Neuroscience Bulletin · doi:10.1007/s12264-026-01653-y

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

Godfrey, M., Levy, M. A., Campbell, C., Demain, L. A. M., Jenkinson, S., Hilton, S., Almoguera, B., Balasubramanian, M., Bijlsma, E. K., Blanco‐Kelly, F., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02209-4

Chromodomain helicase DNA-binding proteins and orofacial cleft

Dehghanian, M., Hosseinzadeh, M., Abdali, H., Nouri, N., & Kazemi, M. (2026) · Journal of Research in Medical Sciences · doi:10.4103/jrms.jrms_118_26

Chromodomain Helicase DNA-Binding Domain 8 (CHD8) related neurodevelopmental disorder with overgrowth: a case series and a systematic literature review on neuroradiological findings

Zerweck, L., Grundmann-Hauser, K., Kehrer, C., Grasshoff, U., Tzschach, A., Haack, T. B., Bevot, A., Treven, M., Pretzel, P., Hauser, T.-K., et al. (2026) · Journal of Rare Diseases · doi:10.1007/s44162-026-00231-0

DBS for monogenic dystonia

Ehrman, J. M., & Wu, S. W. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-23540-5.00005-9

MG-126 A de novo truncating mutation in the chromatin remodeler chd8 in a patient with autism, macrocephaly and overgrowth

Au, P. Y. B., Smith, C., Lamont, R. E., Racher, H., Parboosingh, J. S., Bernier, F. P., & Innes, A. M. (2015) · doi:10.1136/jmedgenet-2015-103577.17

De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth

An, Y., Zhang, L., Liu, W., Jiang, Y., Xue, C., Lan, X., Li, G., Hang, Q., Wang, J., Gusella, J. F., et al. (2020) · Human Genetics · doi:10.1007/s00439-020-02115-9 · Cited by 45 · see citing works

A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism

Kim, C., Noh, E.-S., & Cho, S. Y. (2023) · Annals of Pediatric Endocrinology & Metabolism · doi:10.6065/apem.2244130.065 · Cited by 1 · see citing works

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8

Yasin, H., Gibson, W. T., Langlois, S., Stowe, R., Tsang, E. S., Lee, L., Poon, J., Tran, G., Tyson, C., Wong, C. K., et al. (2019) · Journal of Human Genetics · doi:10.1038/s10038-019-0561-0 · Cited by 50 · see citing works

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Dingemans, A. J. M., Truijen, K. M. G., van de Ven, S., Bernier, R., Bongers, E. M. H. F., Bouman, A., de Graaff-Herder, L., Eichler, E. E., Gerkes, E. H., de Geus, C. M., et al. (2022) · Translational Psychiatry · doi:10.1038/s41398-022-02189-1 · Cited by 36 · see citing works