Cited by 271Genetics and Neurodevelopmental DisordersChromatin Remodeling and CancerGenomics and Rare Diseases

The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Open access

Hoyer, Juliane, Ekici, Arif B., Endele, Sabine, Popp, Bernt, Zweier, Christiane, Wiesener, Antje, Wohlleber, Eva, Dufke, Andreas, Rossier, Eva, Petsch, Corinna, Zweier, Markus, Göhring, Ina, Zink, Alexander M., Rappold, Gudrun, Schröck, Evelin, Wieczorek, Dagmar, Riess, Olaf, Engels, Hartmut, Rauch, Anita, Reis, André·2012·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2012.02.007PMC PMC3309205

Open this paper in CoChat — free account Open PDF

Abstract

Intellectual disability (ID) is a clinically and genetically heterogeneous common condition that remains etiologically unresolved in the majority of cases. Although several hundred diseased genes have been identified in X-linked, autosomal-recessive, or syndromic types of ID, the establishment of an etiological basis remains a difficult task in unspecific, sporadic cases. Just recently, de novo mutations in SYNGAP1, STXBP1, MEF2C, and GRIN2B were reported as relatively common causes of ID in such individuals. On the basis of a patient with severe ID and a 2.5 Mb microdeletion including ARID1B in chromosomal region 6q25, we performed mutational analysis in 887 unselected patients with unexplained ID. In this cohort, we found eight (0.9%) additional de novo nonsense or frameshift mutations predicted to cause haploinsufficiency. Our findings indicate that haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a common cause of ID, and they add to the growing evidence that chromatin-remodeling defects are an important contributor to neurodevelopmental disorders.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1016/j.ajhg.2012.02.007

Cites

24 of 24 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203
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
Self-citation
A de novo paradigm for mental retardation.
Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.712 · Cited by 852
Histone H2B Monoubiquitination Functions Cooperatively with FACT to Regulate Elongation by RNA Polymerase II
Pavri, R., Zhu, B., Li, G., Trojer, P., Mandal, S. S., Shilatifard, A., & Reinberg, D. (2006) · Cell · doi:10.1016/j.cell.2006.04.029 · Cited by 708
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.367 · Cited by 603
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics · doi:10.1038/ng.677 · Cited by 499
Self-citation
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
Rauch, A. M., Hoyer, J., Guth, S., Zweier, C., Kraus, C. S., Becker, C., Zenker, M., Hüffmeier, U., Thiel, C. T., Rüschendorf, F., et al. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31416 · Cited by 430
Self-citation
Genetics of Early Onset Cognitive Impairment
Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 398
Monoubiquitinated H2B is associated with the transcribed region of highly expressed genes in human cells
Minsky, N., Shema, E., Field, Y., Schuster, M., Segal, E., & Oren, M. (2008) · Nature Cell Biology · doi:10.1038/ncb1712 · Cited by 390
Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation
Hamdan, F. F., Gauthier, J., Spiegelman, D., Noreau, A., Yang, Y., Pellerin, S., Dobrzeniecka, S., Côté, M., Perreau-Linck, E., Carmant, L., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0805392 · Cited by 336

Show all 24 references

Sorted by citations

Items 201–271 of 271

Reply:ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
Edwards, T. J. C., Sherr, E. H., Barkovich, A. J., & Richards, L. J. (2016) · Brain · doi:10.1093/brain/aww171 · Cited by 3
Tracing genomic instability in induced mesenchymal stromal cell manufacture: an integration-free transfection approach
Lee, J.-M., Lee, C., Seol, B., Jung, C. K., Kim, Y., Kang, D., Yu, H., Hong, Y., Song, C. L., Cho, Y. S., et al. (2025) · Experimental & Molecular Medicine · doi:10.1038/s12276-025-01439-8 · Cited by 4
Decoding common and rare noncoding variant effects across cellular and developmental contexts
Marderstein, A. R., Kundu, S., Padhi, E. M., Deshpande, S., Wang, A., Robb, E., Sun, Y., Yun, C. M., Pomales-Matos, D. A., Xie, Y., et al. (2026) · Nature Genetics · doi:10.1038/s41588-026-02619-6 · Cited by 18
Clonazepam repurposing in ARID1B patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development
van der Sluijs, P. J., Pour, K. S., Berends, C. L., Kruizinga, M. D., Müller, A. R., van Eeghen, A. M., Rodríguez‐Girondo, M., Juachon, M. J., Steenbeek, D., Cohen, A. F., et al. (2024) · Journal of Medical Genetics · doi:10.1136/jmg-2024-109951 · Cited by 3
Novel Variants in Hearing Loss Genes and Associations With Audiometric Thresholds in a Multi-ethnic Cohort of US Patients With Cochlear Implants
Yoon, P. J., Sumalde, A. A. M., Ray, D. C., Newton, S. S., Cass, S. P., Chan, K. H., & Santos‐Cortez, R. L. P. (2020) · Otology & Neurotology · doi:10.1097/mao.0000000000002671 · Cited by 3
A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma
Guo, Z., Bai, J., Liu, Y., Zhang, X., Yang, W., Wang, J., Zhang, Y., Xiao, H., Hao, B., & Liao, S. (2024) · Acta Biochimica et Biophysica Sinica · doi:10.3724/abbs.2024204 · Cited by 3
6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities
Mackenroth, L., Hackmann, K., Beyer, A., Schallner, J., Novotna, B., Klink, B., Schröck, E., & Donato, N. D. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37266 · Cited by 3
Self-citation
Refinement of the postnatal growth restriction locus of chromosome 5q12‐13 deletion syndrome
Holder, J. L., & Cheung, S. W. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37228 · Cited by 3
Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin‑Siris syndrome 1
Zhong, M., Qian, C., & Ying, D. (2021) · Experimental and Therapeutic Medicine · doi:10.3892/etm.2021.10046 · Cited by 3
ARID1B is a Dosage-sensitive Regulator of Polycomb Repressive Complex Distribution and HOX Gene Regulation in Patient-derived Neural ProgenitorsPreprint
Crabtree, G. R., Son, E., Krokhotin, A., Gourisankar, S. P., & Chang, C.-Y. (2021) · Research Square · doi:10.21203/rs.3.rs-959800/v1 · Cited by 2
Exome findings in children with short stature evaluated by growth hormone stimulation testing
de la Piscina, I. M., Zürcher, M., Zingg, T., Janner, M., Saner, C. C. S., Boettcher, C., Zweier, C., & Flück, C. E. (2026) · European Journal of Endocrinology · doi:10.1093/ejendo/lvag038 · Cited by 2
Self-citation
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases
Rimoldi, M., Rinaldi, B., Villa, R., Cerasani, J., Beltrami, B., Iascone, M. R., Silipigni, R., Boito, S., Gangi, S., Colombo, L., et al. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.63054 · Cited by 2
Adult syndromology: challenges, opportunities and perspectives
Schmetz, A., Ballesta‐Martínez, M. J., Isidor, B., Sousa, A. B., Wieczorek, D., & Bramswig, N. C. (2024) · Medizinische Genetik · doi:10.1515/medgen-2024-2023 · Cited by 2
Self-citation
Interstitial 6q25 microdeletion syndrome: 46,XX,del(6)(q25.2q26)
Inoue, T., Sato, K., Ohashi, H., Motojima, T., & Takizawa, T. (2019) · Pediatrics International · doi:10.1111/ped.13871 · Cited by 2
Genes containing hexanucleotide repeats resembling C9ORF72 and expressed in the central nervous system are frequent in the human genome
Vourc’h, P., Wurmser, F., Brulard, C., Mouzat, K., Kassem, S. B., Dangoumau, A., Laumonnier, F., Blasco, H., Corcia, P., & Andres, C. R. (2020) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2020.07.027 · Cited by 2
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalusPreprint
Singh, A. K., Viviano, S., Allington, G., McGee, S., Kiziltug, E., Mekbib, K. Y., Shohfi, J. P., Duy, P. Q., DeSpenza, T., Furey, C. G., et al. (2023) · medRxiv · doi:10.1101/2023.03.19.23287455 · Cited by 2
Gene regulatory networks controlling neuronal development
Lambert, J. T., Haigh, J. L., & Nord, A. S. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-814405-3.00027-8 · Cited by 1
SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review
Wang, Y., Zhang, L., Zhu, J., Liu, Y., Wang, C., & Zou, N. (2025) · Frontiers in Pediatrics · doi:10.3389/fped.2024.1493380 · Cited by 1
Identification and functional analysis of a novel SMARCC2 splicing variant in a family with syndromic neurodevelopmental disorder
Li, M., Lin, J., Fei, H., Liu, J., Chen, Y., Han, X., Wang, Y., Wang, J., Hua, R., Li, S., et al. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-024-03510-5 · Cited by 1
Intranasal exosome therapy in Coffin–Siris syndrome: Clinical evaluation of three children
Ekici, B., İnce, T., Kamer, İ., Turgut, A., Altuğ, A. S., Demir, S., & Tatlı, B. (2026) · Surgical Neurology International · doi:10.25259/sni_1198_2025 · Cited by 1
Focal cortical dysplasia: An under‐recognized neuroimaging finding in ARID1B ‐related disorders
Valentine, R., Mahida, S., Smith, L. A., LaFortune, L., Harini, C., Achkar, C. M. E., Olson, H. E., Prabhu, S. P., & Trowbridge, S. K. (2026) · Epileptic Disorders · doi:10.1002/epd2.70369 · Cited by 1
Mikrozephalie bei psychomotorischen Entwicklungsstörungen und geistiger Behinderung
Zweier, C. (2015) · Medizinische Genetik · doi:10.1007/s11825-015-0072-0 · Cited by 1
Self-citation
Pediatric Diseases and Epigenetics
Hall, J. G. (2016) · Elsevier eBooks · doi:10.1016/b978-0-12-803239-8.00023-5 · Cited by 1
Molecular testing in autism spectrum disorder
Fernandez, B. A., Marshall, C. R., Vorstman, J. A. S., & Scherer, S. W. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-822824-1.00016-x · Cited by 2
Genetic background determines synaptic phenotypes in Arid1b-mutant mice
Kim, H., & Kim, E. (2024) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2023.1341348 · Cited by 1
Genetic characteristics associated with isolated Microtia revealed through whole exome sequencing of 201 pedigrees
Wu, S., Chen, X., Chen, Y., Li, C., Yang, R., Zhang, T., & Ma, J. (2025) · Human Molecular Genetics · doi:10.1093/hmg/ddaf063 · Cited by 1
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability
Popp, B., Agaimy, A., Kraus, C. S., Knaup, K. X., Ekici, A. B., Uebe, S., Reis, A., Wiesener, M. S., & Zweier, C. (2019) · BMC Cancer · doi:10.1186/s12885-019-5633-1 · Cited by 1
Self-citation
Pediatric diseases and epigenetics
Hall, J. G., & Weksberg, R. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-823928-5.00001-3 · Cited by 1
Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene
Yang, X., Liu, C., Zhang, H., Lv, Y., Li, Y., Li, Z., Liu, Y., & Gai, Z. (2022) · Stem Cell Research · doi:10.1016/j.scr.2022.102982 · Cited by 1
Arid1b haploinsufficiency in pyramidal neurons causes cellular and circuit changes in neocortex but is not sufficient to produce behavioral or seizure phenotypesPreprint
Marshall, A. H., Hanson, M. A., Boyle, D. J., Nagarajan, D., Bibi, N., Fitzgerald, J., Gaitten, E., Kokiko‐Cochran, O. N., Gu, B., & Wester, J. C. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.06.04.597344 · Cited by 1
Mutacje genów kompleksu BAF jako nowy czynnik etiologiczny izolowanej oraz syndromicznej niepełnosprawności intelektualnej w zespołach Coffina i Siris oraz Nicolaidesa i Baraitsera
Jezela‐Stanek, A., Pelc, M., & Krajewska‐Walasek, M. (2014) · Pediatria Polska · doi:10.1016/j.pepo.2013.12.005
Rethinking our intellectual origins: response to Kalinka et al.
Crabtree, G. R. (2013) · Trends in Genetics · doi:10.1016/j.tig.2013.01.013
Neue syndromale Krankheitsbilder mit Mikrozephalie
Wieczorek, D. (2015) · Medizinische Genetik · doi:10.1007/s11825-015-0071-1
Self-citation
Recherche de la cause, exploration génétique, aspects neurologiques de la déficience mentale
Rio, M., Colleaux, L., & Münnich, A. (2014)
The Role of SWI/SNF Chromatin Remodeling Complexes in Hormone
Sacharowski, S., Cwiek, P., Tohge, T., Fernie, A. R., SIEDLECKI, J. A., Koncz, C., & Sarnowski, T. J. (2016)
Role of the SWI/SNF Chromatin Remodelling Complex in the Axon Development of the Drosophila Mushroom Body
Chubak, M. C. (2017) · Scholarship@Western (Western University)
HHID syndrome with plantar fat pads caused by a de novo ARID1B mutation
Wafik, M., & Kini, U. (2018) · Clinical Dysmorphology · doi:10.1097/mcd.0000000000000226
SWI / SNF Chromatin Remodelling and Human Cancer
Reisman, D., Thompson, K., Marquez, S. B., & Lu, L. (2016) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0025738
Estrogenic Regulation of Synaptic Actin Proteins and Plasticity
Kramár, E. A. (2020) · Oxford University Press eBooks · doi:10.1093/oso/9780190645908.003.0006
Neuroanatomy and Behaviour in Mice with a Haploinsufficiency of AT-Rich Interactive Domain 1B (ARID1B) Throughout DevelopmentPreprint
Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L. R., Wade, A. A., Fernandes, D., Lindenmaier, Z., Crieghton, A., Nutter, L. M. J., Nord, A. S., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.03.31.017905
A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short‐lived infant
Domínguez, M. G., Rivera, H., Dávalos‐Pulido, R. M., & Dávalos‐Rodríguez, I. P. (2020) · Journal of Clinical Laboratory Analysis · doi:10.1002/jcla.23355
Magnetically Controlled Growing Rods for Early Scoliosis Treatment in Coffin-Siris Syndrome: Case Report and Literature Review.
Andreozzi, V., Princi, G., Labianca, L., Rinaldi, D., & Ferretti, A. (2021) · Europe PMC (PubMed Central)
Hereditary and Congenital Nail Disorders
Hadj-Rabia, S., Happle, R., Piraccini, B. M., & Baran, R. (2018) · Wiley eBooks · doi:10.1002/9781119323396.ch9
Neuroanatomy and Behaviour in Mice with a Haploinsufficiency of AT-Rich Interactive Domain 1B (ARID1B) Throughout DevelopmentPreprint
Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L. R., Wade, A. A., Fernandes, D., Lindenmaier, Z., Crieghton, A., Nutter, L. M. J., Nord, A. S., et al. (2020) · Research Square · doi:10.21203/rs.3.rs-90296/v1
UNDERSTANDING THE ROLES OF HETEROGENOUS SWI/SNF COMPLEXES IN REGULATION OF DIFFERENTIAL GENE EXPRESSION
Chakravarty, T. (2022) · doi:10.23860/diss-chakravarty-tomali-2022
Coffin-Siris Syndrome: Genotype-Phenotype Clustering and Novel Variants
Jang, J., Chae, S. W., Shin, H. S., Cho, S. I., Kim, B., Lee, J.-S., Kim, M. J., Park, S. S., & Seong, M. (2023) · Laboratory Medicine Online · doi:10.47429/lmo.2023.13.2.91
Elucidating the clinical and molecular spectrum of SMARCC2 -associated NDD in a cohort of 65 affected individualsPreprint
Bosch, E., Popp, B., Güse, E., Skinner, C. D., van der Sluijs, P. J., Maystadt, I., Pinto, A. M., Renieri, A., Bruno, L. P., Granata, S., et al. (2023) · medRxiv · doi:10.1101/2023.03.30.23287962
Self-citation
Seizures in Mouse Models of Autism
Sebold, A. J., Strassburg, A., Avery, N., Ryndych, D., Foss, V. B., Sawhney, P., & Otazu, G. H. (2023) · Springer eBooks · doi:10.1007/978-3-031-42383-3_7
Treatment of Orthognathic Surgical Class III Patient with Coffin–Siris Syndrome: A Case Report
Macrì, M., Rotelli, C., Pace, C., Festa, M., Galluccio, G., & Festa, F. (2024) · Applied Sciences · doi:10.3390/app14146179
Unveiling the Molecular Pathogenesis of MCPH : Insights From Drosophila Model System
Mengistu, D. Y. (2025) · Development Growth & Differentiation · doi:10.1111/dgd.70019
Autism-like behavior Increases with age and is predated by molecular changes in Arid1b haploinsufficient mice
Ford, T. J. L., Jeon, B. T., Lee, H., & Kim, W.-Y. (2025) · Neuroscience · doi:10.1016/j.neuroscience.2025.12.041
Additional file 7 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563776
Additional file 2 of Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development
Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L., Adhikari, A., Wade, A. A., Fernandes, D., Lindenmaier, Z., Creighton, A., Nutter, L. M. J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14274167
Additional file 5 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563770
Additional file 1 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563758
Additional file 6 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563773
Additional file 4 of Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development
Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L., Adhikari, A., Wade, A. A., Fernandes, D., Lindenmaier, Z., Creighton, A., Nutter, L. M. J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14274176
Additional file 2 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563761
Additional file 8 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563779
Additional file 4 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563767
Additional file 3 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563764
Additional file 9 of Phthalates impact on the epigenetic factors contributed specifically by the father at fertilization
Swanson, G. M., Nassan, F. L., Ford, J. B., Hauser, R. B., Pilsner, J. R., & Krawetz, S. A. (2024) · Figshare · doi:10.6084/m9.figshare.26563782
Additional file 3 of Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development
Ellegood, J., Petkova, S. P., Kinman, A. I., Qiu, L., Adhikari, A., Wade, A. A., Fernandes, D., Lindenmaier, Z., Creighton, A., Nutter, L. M. J., et al. (2021) · Figshare · doi:10.6084/m9.figshare.14274173
Cooperation of Transcription Factor PAX6 with Chromatin-Remodeling Complex BAF During Embryonic Development in Mammals
Azieva, A. M., Vasilyeva, T. A., Maksimenko, O. G., Davydenko, K., Zinchenko, R. A., & Владимирович, М. А. (2026) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-026-01692-z
Expanding the Coffin–Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases
Kolkıran, A., Kulali, M. A., Daşar, T., Kablan, A., Taşdelen, E., Atay, G., Özdemir, B. S., & Erdeve, Ş. S. (2026) · European Journal of Pediatrics · doi:10.1007/s00431-026-06830-9
Unusual Recombinant Chromosome 6 Derived From a Parental Rearrangement With Complex Paracentric Inversions
Babcock, M., Daghsni, M., Sebastian, J., Lancaster, E., Ghaloul‐Gonzalez, L., Ortiz, D. N., Powell, E., Bellissimo, D. B., Sahoo, T., & Yatsenko, S. A. (2026) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.70108
ARID1B regulates sphingolipid metabolism and myelin development via STAG2: Mechanistic insights into ARID1B-related coffin–siris syndrome
Yang, X., Gan, Z., Zhou, Y., Zhang, M., Wu, S., He, F. L., Shen, Z., Ma, S., Su, X., & Xiong, F. (2026) · Cellular Signalling · doi:10.1016/j.cellsig.2026.112510
Characterizing ARID1B-related disorders and variants of uncertain significance using DNA methylation
Chen, A., Jain, M., Baribeau, D. A., Gibson, W. T., Deardorff, M. A., Alkuraya, F. S., Ortigoza‐Escobar, J. D., Nimmo, G., Scherer, S. W., Choufani, S., et al. (2026) · European Journal of Human Genetics · doi:10.1038/s41431-026-02199-3
Arid1b haploinsufficiency in excitatory neurons alters neocortical circuits but not social behavior or seizure phenotypes
Marshall, A. H., Hanson, M. A., Boyle, D. J., Nagarajan, D., Bibi, N., Fitzgerald, J., Gaitten, E., Kokiko‐Cochran, O. N., Gu, B., & Wester, J. C. (2026) · Experimental Neurology · doi:10.1016/j.expneurol.2026.115950 · Cited by 1
Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies
Bilińska, K., Pasińska, M., & de Castro, F. (2026) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2026.1861373
Clinical, genetic and functional characterization of intellectual disability disorders
Zweier, C. (2014) · Radboud Repository (Radboud University)
Self-citation

Authors: Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., Zweier, M., Göhring, I., Zink, A. M., Rappold, G., Schröck, E., Wieczorek, D., Riess, O., Engels, H., Rauch, A., & Reis, A.
Affiliations: Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
University of Bonn (DE)
University of Tübingen (DE)
Heidelberg University (DE)
Technische Universität Dresden (DE)
Essen University Hospital (DE)
Corresponding author: Reis, André
ORCID: Hoyer, Juliane
Ekici, Arif B.
Popp, Bernt
Zweier, Christiane
Wiesener, Antje
Wohlleber, Eva
Dufke, Andreas
Zweier, Markus
Rappold, Gudrun
Schröck, Evelin
Wieczorek, Dagmar
Riess, Olaf
Engels, Hartmut
Rauch, Anita
Reis, André
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2012-03
Volume: 90
Issue: 3
Pages: 565-572
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2012.02.007
PMC: PMC3309205
OpenAlex: W2071476740
Cited by: 263
References: 24
Citations by year: 2026: 11 · 2025: 7 · 2024: 16 · 2023: 19 · 2022: 12 · 2021: 31 · 2020: 16 · 2019: 18 · 2018: 18 · 2017: 22 · 2016: 16 · 2015: 25 · 2014: 28 · 2013: 18 · 2012: 4
FWCI: 14.45
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 505 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Zurich Open Repository and Archive (University of Zurich) (acceptedVersion, other-oa)
Universitätsbibliographie, Universität Duisburg-Essen (submittedVersion)
Zurich Open Repository and Archive (University of Zurich) (submittedVersion, other-oa)
Zurich Open Repository and Archive (University of Zurich)
Funders: Bundesministerium für Bildung und Forschung (01GS08160)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: ARID1B, haploinsufficiency, intellectual disability, chromatin remodeling, de novo mutations, nonsense mutation, frameshift mutation, neurodevelopmental disorders
MeSH terms: Adolescent, Adult, Child, Child, Preschool, Chromatin, Chromosomal Proteins, Non-Histone, DNA Mutational Analysis, DNA-Binding Proteins, Exons, Female, Humans, Male, Intellectual Disability, Middle Aged, Mutation, Transcription Factors, Cohort Studies, Chromatin Assembly and Disassembly, Young Adult, Haploinsufficiency

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

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks