Cited by 159Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

The DOI matches its Crossref record; 75 of the 75 references it cites were found in a registry or an index.

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

Open access

Blumenthal, Ian, Ragavendran, Ashok, Erdin, Serkan, Klei, Lambertus, Sugathan, Aarathi, Guide, Jolene R., Manavalan, Poornima, Zhou, Julian Q., Wheeler, Vanessa C., Levin, Joshua Z., Ernst, Carl, Roeder, Kathryn, Devlin, Bernie, Gusella, James F., Talkowski, Michael E.·2014·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2014.05.004PMC PMC4121471

Open this paper in CoChat — free account Open PDF

Abstract

Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can manifest in a wide array of phenotypes. To explore its molecular consequences, we performed RNA sequencing of cerebral cortex from mouse models with CNV of the syntenic 7qF3 region and lymphoblast lines from 34 members of 7 multiplex ASD-affected families harboring the 16p11.2 CNV. Expression of all genes in the CNV region correlated well with their DNA copy number, with no evidence of dosage compensation. We observed effects on gene expression outside the CNV region, including apparent positional effects in cis and in trans at genomic segments with evidence of physical interaction in Hi-C chromosome conformation data. One of the most significant positional effects was telomeric to the 16p11.2 CNV and includes the previously described "distal" 16p11.2 microdeletion. Overall, 16p11.2 CNV was associated with altered expression of genes and networks that converge on multiple hypotheses of ASD pathogenesis, including synaptic function (e.g., NRXN1, NRXN3), chromatin modification (e.g., CHD8, EHMT1, MECP2), transcriptional regulation (e.g., TCF4, SATB2), and intellectual disability (e.g., FMR1, CEP290). However, there were differences between tissues and species, with the strongest effects being consistently within the CNV region itself. Our analyses suggest that through a combination of indirect regulatory effects and direct effects on nuclear architecture, alteration of 16p11.2 genes disrupts expression networks that involve other genes and pathways known to contribute to ASD, suggesting an overlap in mechanisms of pathogenesis.

Integrity signals

Registry

Crossref · 10.1016/j.ajhg.2014.05.004

Cites

75 of 75 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625
Cytoscape: A software Environment for integrated models of biomolecular interaction networks
Shannon, P., Markiel, A., Ozier, O., Baliga, N. S., Wang, J. T., Ramage, D., Amin, N., Schwikowski, B., & Ideker, T. (2003) · Genome Research · doi:10.1101/gr.1239303 · Cited by 51,888
KEGG: Kyoto Encyclopedia of Genes and Genomes
Kanehisa, M. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.1.27 · Cited by 37,077
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Huang, D. W., Sherman, B. T., & Lempicki, R. A. (2009) · Nature Protocols · doi:10.1038/nprot.2008.211 · Cited by 35,890
KEGG: Kyoto Encyclopedia of Genes and Genomes
Ogata, H., Goto, S., Sato, K., Fujibuchi, W., Bono, H., & Kanehisa, M. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.1.29 · Cited by 31,232
BEDTools: a flexible suite of utilities for comparing genomic features
Quinlan, A. R., & Hall, I. M. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq033 · Cited by 27,437
WGCNA: an R package for weighted correlation network analysis
Langfelder, P., & Horvath, S. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-559 · Cited by 27,252
Modern Applied Statistics with S
Venables, W. N., & Ripley, B. D. (2002) · Statisctics and computing/Statistics and computing · doi:10.1007/978-0-387-21706-2 · Cited by 25,941
Generalized Linear Models
(2005) · Springer eBooks · doi:10.1007/0-387-27255-0_9 · Cited by 20,333
Differential expression analysis for sequence count data
Anders, S., & Huber, W. (2010) · Genome Biology · doi:10.1186/gb-2010-11-10-r106 · Cited by 15,581

Show all 75 references

Sorted by citations

Neurobiology of rodent self-grooming and its value for translational neuroscience
Kalueff, A. V., Stewart, A. M., Song, C., Berridge, K. C., Graybiel, A. M., & Fentress, J. C. (2016) · Nature Reviews Neuroscience · doi:10.1038/nrn.2015.8 · Cited by 852
Genome-wide changes in lncRNA, splicing, and regional gene expression patterns in autism
Parikshak, N. N., Swarup, V., Belgard, T. G., Irimia, M., Ramaswami, G., Gandal, M. J., Hartl, C., Leppa, V., Ubieta, L. D. L. T., Huang, J., et al. (2016) · Nature · doi:10.1038/nature20612 · Cited by 685
“These data contribute to a consistent emerging picture of the molecular pathology of ASD 4,7,8,10,25–27 .”
Non-coding genetic variants in human disease: Figure 1.
Zhang, F., & Lupski, J. R. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv259 · Cited by 619
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
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
Self-citation
16p11.2 Copy Number Variations and Neurodevelopmental Disorders
Rein, B., & Yan, Z. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.09.001 · Cited by 160
The Emerging Clinical Neuroscience of Autism Spectrum Disorder
Muhle, R., Reed, H. E., Stratigos, K. A., & Veenstra-VanderWeele, J. M. (2018) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2017.4685 · Cited by 176
Behavioral neuroscience of autism
Takumi, T., Tamada, K., Hatanaka, F., Nakai, N., & Bolton, P. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.04.012 · Cited by 171
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Shaw, N. D., Brand, H., Kupchinsky, Z. A., Bengani, H., Plummer, L., Jones, T. I., Erdin, S., Williamson, K. A., Rainger, J., Stortchevoi, A., et al. (2017) · Nature Genetics · doi:10.1038/ng.3743 · Cited by 154
Self-citation
Cellular phenotypes in human iPSC-derived neurons from a genetic model of autism spectrum disorder
Deshpande, A., Yadav, S., Dao, D. Q., Wu, Z.-Y., Hokanson, K. C., Cahill, M. K., Wiita, A. P., Jan, Y.-N., Ullian, E. M., & Weiss, L. A. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.11.037 · Cited by 151
Autism-associated 16p11.2 microdeletion impairs prefrontal functional connectivity in mouse and human
Bertero, A., Liska, A., Pagani, M., Parolisi, R., Masferrer, M. E., Gritti, M., Pedrazzoli, M., Galbusera, A., Sarica, A., Cerasa, A., et al. (2018) · Brain · doi:10.1093/brain/awy111 · Cited by 120
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism
Urresti, J., Zhang, P., Losada, P. M., Yu, N., Negraes, P. D., Trujillo, C. A., Antaki, D., Amar, M., Chau, K. K., Pramod, A. B., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01243-6 · Cited by 135
Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
Torres, F., Barbosa, M., & Maciel, P. (2015) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2015-103366 · Cited by 126
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.84 · Cited by 118
Self-citation
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements
Poot, M., & Haaf, T. (2015) · Molecular Syndromology · doi:10.1159/000438812 · Cited by 116
Neurobiology of rodent self-grooming and its value for translational neuroscience
Kalueff, A. V., Stewart, A., Song, C., Berridge, K. C., Fentress, J. C., & Graybiel, A. M. (2017) · DSpace@MIT (Massachusetts Institute of Technology) · Cited by 114
Integrative transcriptome network analysis of iPSC-derived neurons from schizophrenia and schizoaffective disorder patients with 22q11.2 deletion
Lin, M., Pedrosa, E., Hrabovsky, A., Chen, J., Puliafito, B. R., Gilbert, S. R., Zheng, D., & Lachman, H. M. (2016) · BMC Systems Biology · doi:10.1186/s12918-016-0366-0 · Cited by 111
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
Uddin, M. J., Unda, B. K., Kwan, V., Holzapfel, N. T., White, S. H., Chalil, L., Woodbury‐Smith, M., Ho, K. S., Harward, E., Murtaza, N., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.01.006 · Cited by 109
Neurobiological functions of transcriptional enhancers
Nord, A. S., & West, A. E. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0538-5 · Cited by 106
16p11.2 deletion syndrome mice display sensory and ultrasonic vocalization deficits during social interactions
Yang, M., Mahrt, E. J., Lewis, F., Foley, G., Portmann, T., Dolmetsch, R. E., Portfors, C. V., & Crawley, J. N. (2015) · Autism Research · doi:10.1002/aur.1465 · Cited by 96
Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
Tai, D. J. C., Ragavendran, A., Manavalan, P., Stortchevoi, A., Seabra, C. M., Erdin, S., Collins, R. L., Blumenthal, I., Chen, X., Shen, Y., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4235 · Cited by 84
Self-citation
DNA double strand break repair, aging and the chromatin connection
Gorbunova, V., & Seluanov, A. (2016) · Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis · doi:10.1016/j.mrfmmm.2016.02.004 · Cited by 87
Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster
Iyer, J. S., Singh, M. D., Jensen, M., Patel, P. T., Pizzo, L., Huber, E., Koerselman, H., Weiner, A. T., Lepanto, P., Vadodaria, K., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-04882-6 · Cited by 81
Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly
Mao, H., Pilaz, L., McMahon, J. J., Golzio, C., Wu, D., Shi, L., Katsanis, N., & Silver, D. L. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.0018-15.2015 · Cited by 86
Haploinsufficiency of BAZ1B contributes to Williams syndrome through transcriptional dysregulation of neurodevelopmental pathways
Lalli, M. A., Jang, J., Park, J.-H. C., Wang, Y., Guzman, E., Zhou, H., Audouard, M., Bridges, D. C., Tovar, K. R., Papuc, S. M., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw010 · Cited by 79
The Mechanisms of CHD8 in Neurodevelopment and Autism Spectrum Disorders
Weissberg, O., & Elliott, E. (2021) · Genes · doi:10.3390/genes12081133 · Cited by 72
Epigenetics of Autism Spectrum Disorder: Histone Deacetylases
Tseng, C.-E. J., McDougle, C. J., Hooker, J. M., & Zürcher, N. R. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.11.021 · Cited by 72
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E. C. T., Harewood, L., Kosmicki, J. A., Loviglio, M. N., Giannuzzi, G., Hippolyte, L., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.04.002 · Cited by 62
Self-citation
Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions
Arbogast, T., Razaz, P., Ellegood, J., McKinstry, S. U., Erdin, S., Currall, B., Aneichyk, T., Lerch, J. P., Qiu, L. R., Rodriguiz, R. M., et al. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddy436 · Cited by 52
Self-citation
Reversal of synaptic and behavioral deficits in a 16p11.2 duplication mouse model via restoration of the GABA synapse regulator Npas4
Rein, B., Tan, T., Yang, F., Wang, W., Williams, J., Zhang, F., Mills, A., & Yan, Z. (2021) · Molecular Psychiatry · doi:10.1038/s41380-020-0693-9 · Cited by 58
The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research
Nakamura, T., & Takata, A. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02005-2 · Cited by 72
Local and global chromatin interactions are altered by large genomic deletions associated with human brain development
Zhang, X., Zhang, Y., Zhu, X., Purmann, C., Haney, M. S., Ward, T., Khechaduri, A., Yao, J., Weissman, S. M., & Urban, A. E. (2018) · Nature Communications · doi:10.1038/s41467-018-07766-x · Cited by 57
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
Weiner, D. J., Ling, E., Erdin, S., Tai, D. J. C., Yadav, R., Grove, J., Fu, J. M., Nadig, A., Carey, C. E., Baya, N. A., et al. (2022) · Nature Genetics · doi:10.1038/s41588-022-01203-y · Cited by 51
Self-citation
The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability
Chaste, P., Roeder, K., & Devlin, B. (2017) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-083115-022647 · Cited by 54
Self-citation
16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development
Roth, J. G., Muench, K. L., Asokan, A., Mallett, V. M., Gai, H., Verma, Y., Weber, S., Charlton, C. A., Fowler, J. L., Loh, K. M., et al. (2020) · eLife · doi:10.7554/elife.58178 · Cited by 47
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
Vysotskiy, M., Zhong, X. Y., Miller‐Fleming, T. W., Zhou, D., Cox, N. J., & Weiss, L. A. (2021) · Genome Medicine · doi:10.1186/s13073-021-00972-1 · Cited by 49
Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms
Uzun, E. D. G., Sciarra, L. N., Maguire, A. M., Pescosolido, M. F., van Dyck, L. I., & Morrow, E. M. (2015) · Neurotherapeutics · doi:10.1007/s13311-015-0363-9 · Cited by 45
TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling
Martin, P., Wagh, V., Reis, S. A., Erdin, S., Beauchamp, R. L., Shaikh, G., Talkowski, M. E., Thiele, E. A., Sheridan, S. D., Haggarty, S. J., et al. (2020) · Molecular Autism · doi:10.1186/s13229-019-0311-3 · Cited by 44
Self-citation
Functional annotation of rare structural variation in the human brain
Han, L., Zhao, X., Benton, M. L., Perumal, T. M., Collins, R. L., Hoffman, G. E., Johnson, J., Sloofman, L. G., Wang, H. Z., Stone, M. R., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-16736-1 · Cited by 46
Self-citation
Cryptic and Complex Chromosomal Aberrations in Early-Onset Neuropsychiatric Disorders
Brand, H., Pillalamarri, V., Collins, R. L., Eggert, S., O'Dushlaine, C. T., Braaten, E. B., Stone, M. R., Chambert, K., Doty, N. D., Hanscom, C., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.09.005 · Cited by 44
Self-citation
Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder
Mullegama, S. V., Alaimo, J. T., Chen, L., & Elsea, S. H. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16047627 · Cited by 44
Understanding the clinical manifestations of 16p11.2 deletion syndrome: a series of developmental case reports in children
Fetit, R., Price, D. J., Lawrie, S. M., & Johnstone, M. (2020) · Psychiatric Genetics · doi:10.1097/ypg.0000000000000259 · Cited by 43
Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model
Haslinger, D., Waltes, R., Yousaf, A., Lindlar, S., Schneider, I., Lim, C. K., Tsai, M., Garvalov, B. K., Acker‐Palmer, A., Krezdorn, N., et al. (2018) · Molecular Autism · doi:10.1186/s13229-018-0239-z · Cited by 43
Unraveling the genetic architecture of copy number variants associated with schizophrenia and other neuropsychiatric disorders
Rutkowski, T. P., Schroeder, J. P., Gafford, G. M., Warren, S. T., Weinshenker, D., Caspary, T., & Mullé, J. G. (2016) · Journal of Neuroscience Research · doi:10.1002/jnr.23970 · Cited by 40
Can Animal Models of Copy Number Variants That Predispose to Schizophrenia Elucidate Underlying Biology?
Forsingdal, A., Jørgensen, T. N., Olsen, L., Werge, T. M., Didriksen, M., & Nielsen, J. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.07.004 · Cited by 42
Hearing Loss in Neurological Disorders
Li, S., Cheng, C., Lü, L., Ma, X., Zhang, X., Li, A., Chen, J., Qian, X., & Gao, X. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.716300 · Cited by 39
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
Tai, D. J. C., Razaz, P., Erdin, S., Gao, D., Wang, J. P., Nuttle, X., de Esch, C. E., Collins, R. L., Currall, B., O’Keefe, K., et al. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.08.012 · Cited by 39
Self-citation
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
Loviglio, M. N., Arbogast, T., Jønch, A. E., Collins, S. C., Popadin, K. Y., Bonnet, C. S., Giannuzzi, G., Maillard, A. M., Jacquemont, S., Yalcin, B., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.08.016 · Cited by 39
Self-citation
Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease
Kloosterman, W. P., & Hochstenbach, R. (2014) · Molecular Cytogenetics · doi:10.1186/s13039-014-0100-9 · Cited by 40
PRRT2-related phenotypes in patients with a 16p11.2 deletion
Vlaskamp, D. R. M., Callenbach, P. M. C., Rump, P., Giannini, L., Brilstra, E. H., Dijkhuizen, T., Vos, Y. J., van der Kevie-Kersemaekers, A.-M. F., Knijnenburg, J., de Leeuw, N., et al. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.08.002 · Cited by 37
16p11 Duplication disrupts hippocampal-orbitofrontal-amygdala connectivity, revealing a neural circuit endophenotype for schizophrenia
Bristow, G. C., Thomson, D. M., Openshaw, R. L., Mitchell, E. J., Pratt, J. A., Dawson, N., & Morris, B. J. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107536 · Cited by 36
Transcriptomic networks implicate neuronal energetic abnormalities in three mouse models harboring autism and schizophrenia-associated mutations
Gordon, A., Forsingdal, A., Klewe, I. V., Nielsen, J., Didriksen, M., Werge, T. M., & Geschwind, D. H. (2019) · Molecular Psychiatry · doi:10.1038/s41380-019-0576-0 · Cited by 38
Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction
Shi, X., Lu, C., Corman, A., Nikish, A., Zhou, Y., Platt, R. J., Iossifov, I. H., Zhang, F., Pan, J. Q., & Sanjana, N. E. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.09.004 · Cited by 35
Molecular Signatures of Post-Traumatic Stress Disorder in War-Zone Exposed Veteran and Active Duty Soldiers
Muhie, S. Y., Gautam, A., Yang, R., Misganaw, B., Daigle, B. J., Mellon, S. H., Flory, J. D., Amara, D. A., Lee, I., Wang, K., et al. (2022) · Cell Reports Medicine · doi:10.1016/j.xcrm.2023.101045 · Cited by 36
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder
Lim, E. T., Chan, Y., Dawes, P., Guo, X., Erdin, S., Tai, D. J. C., Liu, S., Reichert, J. M., Burns, M. J., Chan, Y., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-30968-3 · Cited by 34
Self-citation
Integrative network analysis reveals biological pathways associated with Williams syndrome
Kimura, R., Swarup, V., Tomiwa, K., Gandal, M. J., Parikshak, N., Funabiki, Y., Nakata, M., Awaya, T., Kato, T., Iida, K., et al. (2018) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12999 · Cited by 34
Bacurd1/Kctd13 and Bacurd2/Tnfaip1 are interacting partners to Rnd proteins which influence the long-term positioning and dendritic maturation of cerebral cortical neurons
Gladwyn-Ng, I. E., Huang, L., Ngo, L., Li, S., Qu, Z., Vanyai, H. K., Cullen, H. D., Davis, J. M., & Heng, J. I. (2016) · Neural Development · doi:10.1186/s13064-016-0062-1 · Cited by 31
Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
Middelkamp, S., van Heesch, S., Braat, A. K., de Ligt, J., van Iterson, M., Simonis, M., van Roosmalen, M. J., Kelder, M. J. E., Kruisselbrink, E., Hochstenbach, R., et al. (2017) · Genome Medicine · doi:10.1186/s13073-017-0399-z · Cited by 31
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice
Ren, X., Yang, N., Wu, N., Xu, X., Chen, W., Zhang, L., Li, Y., Du, R., Dong, S., Zhao, S., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106333 · Cited by 31
In tribute to Bob Blanchard: Divergent behavioral phenotypes of 16p11.2 deletion mice reared in same-genotype versus mixed-genotype cages
Yang, M., Lewis, F., Foley, G., & Crawley, J. N. (2015) · Physiology & Behavior · doi:10.1016/j.physbeh.2015.04.023 · Cited by 28
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH
Gregorio, E. D., Savin, E., Biamino, E., Belligni, E. F., Naretto, V. G., D′Alessandro, G., Gai, G., Fiocchi, F., Calcia, A., Mancini, C., et al. (2014) · Molecular Cytogenetics · doi:10.1186/s13039-014-0082-7 · Cited by 28
Exposure to Sodium Valproate during Pregnancy: Facial Features and Signs of Autism
Stadelmaier, R., Nasri, H. Z., Deutsch, C. K., Bauman, M. L., Hunt, A., Stodgell, C., Adams, J., & Holmes, L. B. (2017) · Birth Defects Research · doi:10.1002/bdr2.1052 · Cited by 28
GuideLiner catheter facilitated PCI--a novel device with multiple applications.
Pershad, A., Sein, V., & Laufer, N. (2011) · PubMed · Cited by 26
Sleep disturbances in autism spectrum disorder: Animal models, neural mechanisms, and therapeutics
Maurer, J. J., Choi, A., An, I., Sathi, N., & Chung, S. (2023) · Neurobiology of Sleep and Circadian Rhythms · doi:10.1016/j.nbscr.2023.100095 · Cited by 31
Altered sleep architecture, rapid eye movement sleep, and neural oscillation in a mouse model of human chromosome 16p11.2 microdeletion
Lu, H.-C., Pollack, H., Lefante, J. J., Mills, A. A., & Tian, D. (2019) · Sleep · doi:10.1093/sleep/zsy253 · Cited by 22
A phenome-wide association study identifies effects of copy-number variation of VNTRs and multicopy genes on multiple human traits
Garg, P., Jadhav, B., Lee, W., Rodriguez, O. L., Martin-Trujillo, A., & Sharp, A. J. (2022) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2022.04.016 · Cited by 21
Altered synaptic transmission and maturation of hippocampal CA1 neurons in a mouse model of human chr16p11.2 microdeletion
Lu, H.-C., Mills, A. A., & Tian, D. (2017) · Journal of Neurophysiology · doi:10.1152/jn.00306.2017 · Cited by 22
Expression of Genes in the 16p11.2 Locus during Development of the Human Fetal Cerebral Cortex
Morson, S., Yang, Y., Price, D. J., & Pratt, T. (2021) · Cerebral Cortex · doi:10.1093/cercor/bhab067 · Cited by 23
Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub
Forrest, M. P., Santos, M. D., Piguel, N. H., Wang, Y., Hawkins, N. A., Bagchi, V. A., Dionisio, L. E., Yoon, S., Simkin, D., Martin‐de‐Saavedra, M. D., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-36087-x · Cited by 22
Synaptopathology in autism spectrum disorders: Complex effects of synaptic genes on neural circuits
Wang, X., Kéry, R., & Xiong, Q. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.09.026 · Cited by 24
Histone deacetylase knockouts modify transcription, CAG instability and nuclear pathology in Huntington disease mice
Kovalenko, M. V., Erdin, S., Andrew, M. A., Claire, J. S., Shaughnessey, M., Hubert, L., Neto, J. L., Stortchevoi, A., Fass, D. M., Pinto, R. M., et al. (2020) · eLife · doi:10.7554/elife.55911 · Cited by 22
Self-citation
Dysregulation of mTOR signaling mediates common neurite and migration defects in both idiopathic and 16p11.2 deletion autism neural precursor cells
Prem, S., Dev, B., Peng, C., Mehta, M., Alibutud, R., Connacher, R., Thomas, M. S., Zhou, X., Matteson, P. G., Xing, J., et al. (2024) · eLife · doi:10.7554/elife.82809 · Cited by 19
Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein
Kretz, P. F., Wagner, C., Mikhaleva, A., Montillot, C., Hugel, S., Morella, I., Kannan, M., Fischer, M., Milhau, M., Yalçın, İ., et al. (2023) · Genome biology · doi:10.1186/s13059-023-03092-8 · Cited by 23
The pleiotropic spectrum of proximal 16p11.2 CNVs
Auwerx, C., Kutalik, Z., & Reymond, A. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2024.08.015 · Cited by 19
Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features
Bidart, M., Atifi, M. E., Miladi, S., Rendu, J., Satre, V., Ray, P. F., Bosson, C., Devillard, F., Lehalle, D., Malan, V., et al. (2016) · Genetics in Medicine · doi:10.1038/gim.2016.180 · Cited by 17
Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
Szelest, M., Stefaniak, M., Ręka, G., Jaszczuk, I., & Lejman, M. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-00929-8 · Cited by 15
16p11.2 deletion accelerates subpallial maturation and increases variability in human iPSC-derived ventral telencephalic organoids
Fetit, R., Barbato, M. I., Theil, T., Pratt, T., & Price, D. J. (2023) · Development · doi:10.1242/dev.201227 · Cited by 17
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment
Liu, F., Chen, L., Li, Z., Zhao, S., Yuan, H., Yao, R., Qin, Z., Shangguan, S., Zhang, S., Zou, L., et al. (2023) · Brain · doi:10.1093/brain/awad071 · Cited by 21
Self-citation
Potential molecular consequences of transgene integration: The R6/2 mouse example
Jacobsen, J. C., Erdin, S., Chiang, C., Hanscom, C., Handley, R. R., Barker, D., Stortchevoi, A., Blumenthal, I., Reid, S. J., Snell, R. G., et al. (2017) · Scientific Reports · doi:10.1038/srep41120 · Cited by 16
Self-citation
The abiding relevance of mouse models of rare mutations to psychiatric neuroscience and therapeutics
Gogos, J. A., Crabtree, G. W., & Diamantopoulou, A. (2019) · Schizophrenia Research · doi:10.1016/j.schres.2019.03.018 · Cited by 15
The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles
Kusenda, M., Vacic, V., Malhotra, D., Rodgers, L., Pavon, K., Meth, J. L., Kumar, R. A., Christian, S. L., Peeters, H., Cho, S. S., et al. (2015) · Journal of Child Neurology · doi:10.1177/0883073815602066 · Cited by 15
Prenatal prevalence and postnatal manifestations of 16p11.2 deletions: A new insights into neurodevelopmental disorders based on clinical investigations combined with multi-omics analysis
Liu, L., Wang, J., Liu, X., Wang, J., Chen, L., Zhu, H., Mai, J., Hu, T., & Liu, S. (2023) · Clinica Chimica Acta · doi:10.1016/j.cca.2023.117671 · Cited by 14
Autism Spectrum Disorder, Oral Implications, and Oral Microbiota
D’Angelo, E., Fiori, F., Ferraro, G. A., Tessitore, A., Nazzaro, L., Serpico, R., & Contaldo, M. (2025) · Children · doi:10.3390/children12030368 · Cited by 16
Histone Deacetylase Inhibition Restores Behavioral and Synaptic Function in a Mouse Model of 16p11.2 Deletion
Wang, W., Tan, T., Cao, Q., Zhang, F., Rein, B. A., Duan, W., & Yan, Z. (2022) · The International Journal of Neuropsychopharmacology · doi:10.1093/ijnp/pyac048 · Cited by 16
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion
Jensen, M., Tyryshkina, A., Pizzo, L., Smolen, C., Das, M., Huber, E., Krishnan, A., & Girirajan, S. (2021) · Genome Medicine · doi:10.1186/s13073-021-00982-z · Cited by 10
Identification of De Novo JAK2 and MAPK7 Mutations Related to Autism Spectrum Disorder Using Whole-Exome Sequencing in a Chinese Child and Adolescent Trio-Based Sample
Jiao, J., Zhang, M., Yang, P., Huang, Y., Hu, X., Cai, J. C., Yang, C., Situ, M., Zhang, H., Fu, L., et al. (2019) · Journal of Molecular Neuroscience · doi:10.1007/s12031-019-01456-z · Cited by 13
Longitudinal report of child with de novo 16p11.2 triplication
Wallace, A. S., Hudac, C. M., Steinman, K. J., Peterson, J. L., DesChamps, T. D., Duyzend, M. H., Nuttle, X., Eichler, E. E., & Bernier, R. A. (2018) · Clinical Case Reports · doi:10.1002/ccr3.1236 · Cited by 9
Impaired macroautophagy confers substantial risk for intellectual disability in children with autism spectrum disorders
Ham, A., Chang, A. Y., Li, H., Bain, J., Goldman, J. E., Sulzer, D., Veenstra-VanderWeele, J. M., & Tang, G. (2024) · Molecular Psychiatry · doi:10.1038/s41380-024-02741-z · Cited by 16
Copy number variation and brain structure: lessons learned from chromosome 16p11.2
Stein, J. L. (2015) · Genome Medicine · doi:10.1186/s13073-015-0140-8 · Cited by 11
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids
Dawes, P., Murray, L. F., Olson, M. N., Barton, N., Smullen, M., Suresh, M., Yan, G., Zhang, Y., Fernandez-Fontaine, A., English, J., et al. (2023) · Human Genetics · doi:10.1007/s00439-023-02534-4 · Cited by 8
Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion
Yang, Y., Booker, S. A., Clegg, J. M., Urzainqui, I. Q., Sumera, A., Kozić, Z., Dando, O., Lorenzo, S. M., Hérault, Y., Kind, P. C., et al. (2023) · BMC Neuroscience · doi:10.1186/s12868-022-00771-3 · Cited by 9
Genetic Approaches to Understanding Psychiatric Disease
Michaelson, J. J. (2017) · Neurotherapeutics · doi:10.1007/s13311-017-0551-x · Cited by 11
Functional annotation of rare structural variation in the human brainPreprint
Han, L., Zhao, X., Benton, M. L., Perumal, T. M., Collins, R. L., Hoffman, G. E., Johnson, J., Sloofman, L. G., Wang, H. Z., Brennand, K., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/711754 · Cited by 8
Self-citation
Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits
Vysotskiy, M., & Weiss, L. A. (2023) · PLoS Genetics · doi:10.1371/journal.pgen.1010780 · Cited by 7
Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries
Nuttle, X., Burt, N. D., Currall, B., Moysés‐Oliveira, M., Mohajeri, K., Bhavsar, R., Lucente, D. E., Yadav, R., Tai, D. J. C., Gusella, J. F., et al. (2023) · Cell Reports Methods · doi:10.1016/j.crmeth.2023.100672 · Cited by 8
Self-citation
Abnormal Chromatin Folding in the Molecular Pathogenesis of Epilepsy and Autism Spectrum Disorder: a Meta-synthesis with Systematic Searching
Davis, O. (2022) · Molecular Neurobiology · doi:10.1007/s12035-022-03106-9 · Cited by 8
Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow‐up study of four Chinese children carriers
Xie, H., Liu, F., Zhang, Y., Chen, Q., Shangguan, S., Gao, Z., Wu, N., Wang, J., Cui, X., Wang, L., et al. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1485 · Cited by 5
Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome
Han, J. Y., Cho, Y. G., Jo, D. S., & Park, J. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms25010253 · Cited by 5
Genome-wide molecular effects of the neuropsychiatric 16p11 CNVs in an iPSC-to-iN neuronal modelPreprint
Ward, T. R., Zhang, X., Leung, L. C., Zhou, B., Muench, K. L., Roth, J. G., Khechaduri, A., Plastini, M. J., Charlton, C. A., Pattni, R., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.09.940965 · Cited by 4
Cell-type specific global reprogramming of the transcriptome and epigenome in induced neurons with the 16p11.2 neuropsychiatric CNVs
Ward, T. R., Qu, P.-P., Leung, L. C., Zhou, B., Muench, K. L., Khechaduri, A., Plastini, M. J., Charlton, C. A., Pattni, R., Ho, S. S., et al. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01856-3 · Cited by 7
Transcriptome analysis of human neural cells derived from isogenic embryonic stem cells with 16p11.2 deletion
Nomura, Y., Nomura, J., Kamiguchi, H., Nishikawa, T., & Takumi, T. (2021) · Neuroscience Research · doi:10.1016/j.neures.2021.03.005 · Cited by 4

Authors: Blumenthal, I., Ragavendran, A., Erdin, S., Klei, L., Sugathan, A., Guide, J. R., Manavalan, P., Zhou, J. Q., Wheeler, V. C., Levin, J. Z., Ernst, C., Roeder, K., Devlin, B., Gusella, J. F., & Talkowski, M. E.
Affiliations: Massachusetts General Hospital (US)
University of Pittsburgh (US)
Carnegie Mellon University (US)
Broad Institute (US)
Douglas Mental Health University Institute (CA)
Corresponding author: Talkowski, Michael E.
ORCID: Ragavendran, Ashok
Erdin, Serkan
Klei, Lambertus
Zhou, Julian Q.
Wheeler, Vanessa C.
Levin, Joshua Z.
Ernst, Carl
Roeder, Kathryn
Devlin, Bernie
Gusella, James F.
Talkowski, Michael E.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2014-06
Volume: 94
Issue: 6
Pages: 870-883
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2014.05.004
PMC: PMC4121471
OpenAlex: W1975606212
Cited by: 145
References: 75
Citations by year: 2026: 7 · 2025: 5 · 2024: 12 · 2023: 17 · 2022: 9 · 2021: 19 · 2020: 14 · 2019: 10 · 2018: 12 · 2017: 12 · 2016: 10 · 2015: 13 · 2014: 4
FWCI: 8.54
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 187 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Autism Speaks
National Institute of Mental Health (MH095867, U24MH081810, R37MH057881, R00MH095867, K99MH095867)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords: 16p11.2 deletion, 16p11.2 duplication, copy number variation, autism spectrum disorder, dosage compensation, position effect, chromosome conformation, 16p11.2 microdeletion, synaptic function, chromatin modification, transcriptional regulation, intellectual disability, FMR1 gene, NRXN1, NRXN3, CHD8, EHMT1, MeCP2, TCF4, SATB2, CEP290, ASD pathogenesis
MeSH terms: Animals, Autistic Disorder, Cerebral Cortex, Child, Chromosome Deletion, Chromosomes, Human, Pair 16, Female, Genotype, Humans, Male, Intellectual Disability, Pedigree, Phenotype, Transcription, Genetic, Sequence Analysis, RNA, Mice, Genome-Wide Association Study, DNA Copy Number Variations, Chromosome Duplication

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

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks