Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., Garimella, K., Altshuler, D., Gabriel, S., Daly, M., et al. (2010) · Genome Research · doi:10.1101/gr.107524.110 · Cited by 27,895 · see citing works

A framework for variation discovery and genotyping using next-generation DNA sequencing data

DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,216 · see citing works

ATP-dependent chromatin remodeling: genetics, genomics and mechanisms

Hargreaves, D. C., & Crabtree, G. R. (2011) · Cell Research · doi:10.1038/cr.2011.32 · Cited by 923 · see citing works

Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer

Wang, K., Kan, J., Yuen, S. T., Shi, S. T., Chu, K., Law, S. Y.-K., Chan, T. L., Kan, Z., Chan, A. S. Y., Tsui, W. Y., et al. (2011) · Nature Genetics · doi:10.1038/ng.982 · Cited by 770 · see citing works

Genetic and Epigenetic Networks in Intellectual Disabilities

van Bokhoven, H. (2011) · Annual Review of Genetics · doi:10.1146/annurev-genet-110410-132512 · Cited by 382 · see citing works

Practical Genetic Counselling.

Harper, P. S. (1981) · Annals of Internal Medicine · doi:10.7326/0003-4819-95-6-787_3 · Cited by 313 · see citing works

Unlocking Mendelian disease using exome sequencing

Gilissen, C., Hoischen, A., Brunner, H. G., & Veltman, J. A. (2011) · Genome biology · doi:10.1186/gb-2011-12-9-228 · Cited by 265 · see citing works

Mental Retardation With Absent Fifth Fingernail and Terminal Phalanx

Coffin, G. S. (1970) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.1970.02100050435009 · Cited by 194 · see citing works

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Halgren, C., Kjaergaard, S., Bak, M., Hansen, C. S., El-Schich, Z., Anderson, C., Henriksen, K. F., Hjalgrim, H., Kirchhoff, M., Bijlsma, E. K., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01755.x · Cited by 144 · see citing works

Dynamics of expression of ARID1A and ARID1B subunits in mouse embryos and in cells during the cell cycle

Flores‐Alcantar, A., Gonzalez‐Sandoval, A., Escalante‐Alcalde, D., & Lomelı́, H. (2011) · Cell and Tissue Research · doi:10.1007/s00441-011-1182-x · Cited by 71 · see citing works

Coffin-Siris syndrome.

Levy, P., & Baraitser, M. (1991) · Journal of Medical Genetics · doi:10.1136/jmg.28.5.338 · Cited by 66 · see citing works

The Coffin-Siris Syndrome

Carey, J. C. (1978) · American journal of diseases of children · doi:10.1001/archpedi.1978.02120320027005 · Cited by 64 · see citing works

A Balanced Translocation t(6;14)(q25.3;q13.2) Leading to Reciprocal Fusion Transcripts in a Patient with Intellectual Disability and Agenesis of Corpus Callosum

Backx, L., Seuntjens, E., Devriendt, K., Vermeesch, J. R., & Esch, H. V. (2010) · Cytogenetic and Genome Research · doi:10.1159/000321577 · Cited by 60 · see citing works

The Coffin‐Siris syndrome: Report of a family and further delineation

Haspeslagh, M., Fryns, J. P., & BERGHE, H. V. D. (1984) · Clinical Genetics · doi:10.1111/j.1399-0004.1984.tb01074.x · Cited by 42 · see citing works

Untitled work

Khanna (2001) · doi:10.1002/1096-8628(20010215)99:1

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yang, Y.-P., Muzny, D., Reid, J., Bainbridge, M., Willis, A., Ward, P., Braxton, A. A., Beuten, J., Xia, F., Niu, Z., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306555 · Cited by 1,926 · see citing works

Transcriptional Regulation and Its Misregulation in Disease

Lee, T. I., & Young, R. A. (2013) · Cell · doi:10.1016/j.cell.2013.02.014 · Cited by 1,588 · see citing works

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yang, Y., Muzny, D. M., Xia, F., Niu, Z., Person, R., Ding, Y., Ward, P., Braxton, A., Wang, M., Buhay, C., et al. (2014) · JAMA · doi:10.1001/jama.2014.14601 · Cited by 1,360 · 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

Cancer Genetics and Epigenetics: Two Sides of the Same Coin?

You, J. S., & Jones, P. A. (2012) · Cancer Cell · doi:10.1016/j.ccr.2012.06.008 · Cited by 1,163 · see citing works

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism

Parikshak, N. N., Luo, R., Zhang, A., Won, H., Lowe, J. K., Chandran, V., Horvath, S., & Geschwind, D. H. (2013) · Cell · doi:10.1016/j.cell.2013.10.031 · Cited by 1,039 · see citing works

De novo mutations in human genetic disease

Veltman, J. A., & Brunner, H. G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3241 · Cited by 845 · see citing works

Mammalian SWI/SNF chromatin remodeling complexes and cancer: Mechanistic insights gained from human genomics

Kadoch, C., & Crabtree, G. R. (2015) · Science Advances · doi:10.1126/sciadv.1500447 · Cited by 843 · see citing works

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Coe, B. P., Witherspoon, K., Rosenfeld, J. A., van Bon, B. W. M., Vulto-van Silfhout, A. T., Bosco, P., Friend, K. L., Baker, C., Buono, S., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.3092 · Cited by 720 · see citing works

Genetic studies in intellectual disability and related disorders

Vissers, L. E. L. M., Gilissen, C., & Veltman, J. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg3999 · Cited by 761 · see citing works

Neurodevelopmental Disorders: From Genetics to Functional Pathways

Parenti, I., Rabaneda, L. G., Schoen, H., & Novarino, G. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.05.004 · Cited by 634 · see citing works

From neural development to cognition: unexpected roles for chromatin

Ronan, J. L., Wu, W., & Crabtree, G. R. (2013) · Nature Reviews Genetics · doi:10.1038/nrg3413 · Cited by 544 · see citing works

The promise of whole-exome sequencing in medical genetics

Rabbani, B., Tekin, M., & Mahdieh, N. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.114 · Cited by 541 · see citing works

The Continuing Challenge of Understanding, Preventing, and Treating Neural Tube Defects

Wallingford, J. B., Niswander, L. A., Shaw, G. M., & Finnell, R. H. (2013) · Science · doi:10.1126/science.1222002 · Cited by 451 · 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

The Many Roles of BAF (mSWI/SNF) and PBAF Complexes in CancerPreprint

Hodges, H. C., Kirkland, J. G., & Crabtree, G. R. (2016) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a026930 · Cited by 411 · see citing works

Dynamics of BAF–Polycomb complex opposition on heterochromatin in normal and oncogenic states

Kadoch, C., Williams, R. T., Calarco, J. P., Miller, E. L., Weber, C. M., Braun, S. M. G., Pulice, J. L., Chory, E. J., & Crabtree, G. R. (2016) · Nature Genetics · doi:10.1038/ng.3734 · Cited by 291 · see citing works

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

Kleefstra, T., Kramer, J. M., Neveling, K., Willemsen, M. H., Koemans, T. S., Vissers, L. E. L. M., Wissink-Lindhout, W. M., Fencková, M., van den Akker, W. M. R., Kasri, N. N., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.003 · Cited by 264 · see citing works

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

Smith, M. J., O’Sullivan, J., Bhaskar, S. S., Hadfield, K. D., Poke, G., Caird, J., Sharif, S., Eccles, D., FitzPatrick, D. R., Rawluk, D. J. R., et al. (2013) · Nature Genetics · doi:10.1038/ng.2552 · Cited by 260 · see citing works

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

Thévenon, J., Duffourd, Y., Masurel, A., Lefebvre, M., Feillet, F., Chehadeh, S. E., St‐Onge, J., Steinmetz, A., Huet, F., Chouchane, M., et al. (2016) · Clinical Genetics · doi:10.1111/cge.12732 · Cited by 260 · see citing works

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcová, J., Efthymiou, S., Maroofian, R., Heimer, G., Bürglen, L., Valence, S., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10910-w · Cited by 247 · see citing works

The neuron-specific chromatin regulatory subunit BAF53b is necessary for synaptic plasticity and memory

Ciernia, A. V., Matheos, D. P., Barrett, R. M., Kramár, E. A., Azzawi, S., Chen, Y., Magnan, C. N., Zeller, M. D., Sylvain, A. S., Häettig, J., et al. (2013) · Nature Neuroscience · doi:10.1038/nn.3359 · Cited by 234 · see citing works

Cornelia de Lange syndrome

Boyle, M. I., Jespersgaard, C., Brøndum‐Nielsen, K., Bisgaard, A., & Tümer, Z. (2014) · Clinical Genetics · doi:10.1111/cge.12499 · Cited by 230 · see citing works

Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders

Sokpor, G., Xie, Y., Rosenbusch, J., & Tuoc, T. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00243 · Cited by 221 · see citing works

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Santen, G. W. E., Aten, E., Vulto-van Silfhout, A. T., Pottinger, C., van Bon, B. W. M., van Minderhout, I. J. H. M., Snowdowne, R., van der Lans, C. A. C., Boogaard, M., Linssen, M. M. L., et al. (2013) · Human Mutation · doi:10.1002/humu.22394 · Cited by 221 · see citing works

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

Wieczorek, D., Bögershausen, N., Beleggia, F., Steiner-Haldenstätt, S., Pohl, E., Li, Y., Milz, E., Martin, M., Thiele, H., Altmüller, J., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt366 · Cited by 223 · see citing works

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Rabbani, B., Mahdieh, N., Hosomichi, K., Nakaoka, H., & Inoue, I. (2012) · Journal of Human Genetics · doi:10.1038/jhg.2012.91 · Cited by 207 · see citing works

Targeting ARID1A mutations in cancer

Mullen, J., Kato, S., Sicklick, J. K., & Kurzrock, R. (2021) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2021.102287 · Cited by 186 · see citing works

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

Yavarna, T., Al-Dewik, N. I. E., Al‐Mureikhi, M., Ali, R., Al‐Mesaifri, F., Mahmoud, L., Shahbeck, N., Lakhani, S., AlMulla, M., Nawaz, Z., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1575-0 · Cited by 196 · see citing works

SWI/SNF Factors Required for Cellular Resistance to DNA Damage Include ARID1A and ARID1B and Show Interdependent Protein Stability

Watanabe, R., Ui, A., Kanno, S., Ogiwara, H., Nagase, T., Kohno, T., & Yasui, A. (2014) · Cancer Research · doi:10.1158/0008-5472.can-13-3608 · Cited by 191 · see citing works

Targeted Next‐Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

Grozeva, D., Carss, K., Spasić-Bošković, O., Tejada, M., Gécz, J., Shaw, M. A., Corbett, M. A., Haan, E., Thompson, E. M., Friend, K. L., et al. (2015) · Human Mutation · doi:10.1002/humu.22901 · Cited by 184 · see citing works

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.10.003 · Cited by 185 · see citing works

Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior

Jung, E., Moffat, J. J., Liu, J., Dravid, S. M., Gurumurthy, C. B., & Kim, W.-Y. (2017) · Nature Neuroscience · doi:10.1038/s41593-017-0013-0 · Cited by 177 · see citing works

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

Wit, J. M., Oostdijk, W., Losekoot, M., van Duyvenvoorde, H. A., Ruivenkamp, C. A. L., & Kant, S. G. (2015) · European Journal of Endocrinology · doi:10.1530/eje-15-0937 · Cited by 178 · see citing works

Genotype‐phenotype correlation of Coffin‐Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A

Kosho, T., Okamoto, N., & Collaborators, C. S. I. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31407 · Cited by 167 · see citing works

Genetic syndromes caused by mutations in epigenetic genes

Berdasco, M., & Esteller, M. (2013) · Human Genetics · doi:10.1007/s00439-013-1271-x · Cited by 165 · see citing works

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Gregor, A., Oti, M., Kouwenhoven, E. N., Hoyer, J., Sticht, H., Ekici, A. B., Kjærgaard, S., Rauch, A. M., Stunnenberg, H. G., Uebe, S., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.05.007 · Cited by 161 · see citing works

Mendelian Disorders of the Epigenetic Machinery: Tipping the Balance of Chromatin States

Fahrner, J. A., & Bjornsson, H. T. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090613-094245 · Cited by 161 · see citing works

Exploiting vulnerabilities of SWI/SNF chromatin remodelling complexes for cancer therapy

Wanior, M., Krämer, A., Knapp, S., & Joerger, A. C. (2021) · Oncogene · doi:10.1038/s41388-021-01781-x · Cited by 157 · see citing works

A disordered region controls cBAF activity via condensation and partner recruitment

Patil, A., Strom, A. R., Paulo, J. A., Collings, C. K., Ruff, K. M., Shinn, M. K., Sankar, A., Cervantes, K. S., Wauer, T., Laurent, J. D. S., et al. (2023) · Cell · doi:10.1016/j.cell.2023.08.032 · Cited by 155 · see citing works

The role of BAF (mSWI/SNF) complexes in mammalian neural development

Son, E., & Crabtree, G. R. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31416 · Cited by 151 · see citing works

Next-Generation Diagnostics: Gene Panel, Exome, or Whole Genome?

Sun, Y., Ruivenkamp, C. A. L., Hoffer, M. J. V., Vrijenhoek, T., Kriek, M., van Asperen, C. J., den Dunnen, J. T., & Santen, G. W. E. (2015) · Human Mutation · doi:10.1002/humu.22783 · Cited by 152 · see citing works

Prioritization of neurodevelopmental disease genes by discovery of new mutations

Hoischen, A., Krumm, N., & Eichler, E. E. (2014) · Nature Neuroscience · doi:10.1038/nn.3703 · Cited by 149 · see citing works

De novo SOX11 mutations cause Coffin–Siris syndrome

Tsurusaki, Y., Koshimizu, E., Ohashi, H., Phadke, S. R., Kou, I., Shiina, M., Suzuki, T., Okamoto, N., Imamura, S., Yamashita, M., et al. (2014) · Nature Communications · doi:10.1038/ncomms5011 · Cited by 145 · see citing works

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

Bögershausen, N., & Wollnik, B. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00252 · Cited by 143 · see citing works

Coffin–Siris syndrome is a SWI / SNF complex disorder

Tsurusaki, Y., Okamoto, N., Ohashi, H., Mizuno, S., Matsumoto, N., Makita, Y., Fukuda, M., Isidor, B., Perrier, J., Aggarwal, S., et al. (2013) · Clinical Genetics · doi:10.1111/cge.12225 · Cited by 141 · see citing works

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia

Madan, V., Shyamsunder, P., Han, L., Mayakonda, A., Nagata, Y., Sundaresan, J., Kanojia, D., Yoshida, K., Ganesan, S., Hattori, N., et al. (2016) · Leukemia · doi:10.1038/leu.2016.69 · Cited by 135 · see citing works

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S. S., Callewaert, B. L., Clayton‐Smith, J., Hernando‐Davalillo, C., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.11.006 · Cited by 135 · see citing works

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

van der Sluijs, P. J., Jansen, S., Vergano, S. A. S., Adachi-Fukuda, M., Alanay, Y., Al‐Kindy, A., Baban, A., Bayat, A., Beck‐Wödl, S., Berry, K. A., et al. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0330-z · Cited by 130 · see citing works

The Chromatin Response to DNA Breaks: Leaving a Mark on Genome Integrity

Smeenk, G., & van Attikum, H. (2013) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-061809-174504 · Cited by 125 · see citing works

The Scc2–Scc4 complex acts in sister chromatid cohesion and transcriptional regulation by maintaining nucleosome-free regions

Lopez‐Serra, L., Kelly, G. P., Patel, H., Stewart, A., & Uhlmann, F. (2014) · Nature Genetics · doi:10.1038/ng.3080 · Cited by 123 · see citing works

Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling

Valencia, A. M., Collings, C. K., Dao, H. T., Pierre, R. S., Cheng, Y., Huang, J., Sun, Z.-Y. J., Seo, H., Mashtalir, N., Comstock, D. E., et al. (2019) · Cell · doi:10.1016/j.cell.2019.10.044 · Cited by 116 · see citing works

Coffin–Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: Historical review and recent advances using next generation sequencing

Kosho, T., Miyake, N., & Carey, J. C. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31415 · Cited by 116 · see citing works

Kinetic Analysis of npBAF to nBAF Switching Reveals Exchange of SS18 with CREST and Integration with Neural Developmental Pathways

Staahl, B. T., Tang, J., Wu, W., Sun, A. X., Gitler, A. D., Yoo, A. S. J., & Crabtree, G. R. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.1258-13.2013 · Cited by 115 · see citing works

Arid1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment

Celen, C., Chuang, J.-C., Luo, X., Nijem, N., Walker, A. K., Chen, F., Zhang, S., Chung, A. S., Nguyen, L. H., Nassour, I., et al. (2017) · eLife · doi:10.7554/elife.25730 · Cited by 113 · see citing works

The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

Mossink, B., Negwer, M., Schubert, D., & Nadif Kasri, N. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-020-03714-5 · Cited by 114 · see citing works

Biology and Treatment of Rhabdoid Tumor

Geller, J. I., Roth, J. J., & Biegel, J. A. (2015) · Critical Reviews™ in Oncogenesis · doi:10.1615/critrevoncog.2015013566 · Cited by 110 · see citing works

Composition and Function of Mammalian SWI/SNF Chromatin Remodeling Complexes in Human DiseasePreprint

Pulice, J. L., & Kadoch, C. (2016) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2016.81.031021 · Cited by 106 · see citing works

Neuron-specific chromatin remodeling: A missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders

Ciernia, A. V., & Wood, M. A. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2013.10.002 · Cited by 105 · see citing works

Chromatin remodellers as therapeutic targets

Malone, H. A., & Roberts, C. W. M. (2024) · Nature Reviews Drug Discovery · doi:10.1038/s41573-024-00978-5 · Cited by 109 · see citing works

Clinical correlations of mutations affecting six components of the <scp>SWI</scp>/<scp>SNF</scp> complex: Detailed description of 21 patients and a review of the literature

Kosho, T., Okamoto, N., Ohashi, H., Tsurusaki, Y., Imai, Y., Hibi‐Ko, Y., Kawame, H., Homma, T., Tanabe, S., Kato, M., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35933 · Cited by 101 · see citing works

An Activating Mutation in the Kinase Homology Domain of the Natriuretic Peptide Receptor-2 Causes Extremely Tall Stature Without Skeletal Deformities

Hannema, S. E., van Duyvenvoorde, H. A., Premsler, T., Yang, R., Mueller, T. D., Gaßner, B., Oberwinkler, H., Roelfsema, F., Santen, G. W. E., Prickett, T. C. R., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2013-2358 · Cited by 101 · see citing works

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease

Ku, C., Polychronakos, C., Tan, E., Naidoo, N., Yudi Pawitan, Y., Roukos, D. H., Mort, M. E., & Cooper, D. N. (2012) · Molecular Psychiatry · doi:10.1038/mp.2012.58 · Cited by 97 · see citing works

miR-128 regulates neuronal migration, outgrowth and intrinsic excitability via the intellectual disability gene Phf6

Franzoni, E., Booker, S. A., Parthasarathy, S., Rehfeld, F., Grosser, S., Srivatsa, S., Fuchs, H. R., Tarabykin, V. S., Vida, I., & Wulczyn, F. G. (2015) · eLife · doi:10.7554/elife.04263 · Cited by 94 · see citing works

The ARID1B phenotype: What we have learned so far

Santen, G. W. E., & Clayton‐Smith, J. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31414 · Cited by 94 · see citing works

Mutations in <i>TBL1X</i> Are Associated With Central Hypothyroidism

Heinen, C. A., Losekoot, M., Sun, Y., Watson, P. J., Fairall, L., Joustra, S. D., Zwaveling-Soonawala, N., Oostdijk, W., van den Akker, E. L. T., Alders, M., et al. (2016) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2016-2531 · Cited by 92 · see citing works

Single-nucleus multi-omics of human stem cell-derived islets identifies deficiencies in lineage specification

Augsornworawat, P., Hogrebe, N. J., Ishahak, M., Schmidt, M. D., Marquez, E., Maestas, M. M., Veronese-Paniagua, D., Gale, S. E., Miller, J. R., Velazco-Cruz, L., et al. (2023) · Nature Cell Biology · doi:10.1038/s41556-023-01150-8 · Cited by 85 · see citing works

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Bell, S., Rousseau, J., Peng, H., Aouabed, Z., Priam, P., Théroux, J., Jefri, M., Tanti, A., Wu, H., Kolobova, I., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.03.022 · Cited by 87 · see citing works

Autosomal Recessive Spinocerebellar Ataxia 7 (SCAR7) is Caused by Variants inTPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease (CLN2 Disease)

Sun, Y., Almomani, R., Breedveld, G. J., Santen, G. W. E., Aten, E., Lefeber, D. J., Hoff, J. I., Brusse, E., Verheijen, F. W., Verdijk, R. M., et al. (2013) · Human Mutation · doi:10.1002/humu.22292 · Cited by 86 · see citing works

Essential Roles for ARID1B in Dendritic Arborization and Spine Morphology of Developing Pyramidal Neurons

Ka, M., Chopra, D. A., Dravid, S. M., & Kim, W.-Y. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.2321-15.2016 · Cited by 83 · see citing works

The SWI/SNF genetic blockade: effects in cell differentiation, cancer and developmental diseases

Romero, O. A., & Sánchez‐Céspedes, M. (2013) · Oncogene · doi:10.1038/onc.2013.227 · Cited by 82 · see citing works

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

Vasileiou, G., Ekici, A. B., Uebe, S., Zweier, C., Hoyer, J., Engels, H., Behrens, J., Reis, A., & Hadjihannas, M. V. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.08.002 · Cited by 81 · see citing works

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation–in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations

Oostdijk, W., Idkowiak, J., Mueller, J. W., House, P. J., Taylor, A. E., O'Reilly, M. W., Hughes, B. A., de Vries, M. C., Kant, S. G., Santen, G. W. E., et al. (2015) · The Journal of Clinical Endocrinology &amp; Metabolism · doi:10.1210/jc.2014-3556 · Cited by 81 · see citing works

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Swaminathan, G. J., Bragin, E., Chatzimichali, E., Corpas, M., Bevan, A. P., Wright, C. F., Carter, N. P., Hurles, M. E., & Firth, H. V. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds362 · Cited by 78 · see citing works

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

Parenti, I., Teresa‐Rodrigo, M. E., Pozojevic, J., Gil, S. R., Bader, I., Braunholz, D., Bramswig, N. C., Gervasini, C., Larizza, L., Pfeiffer, L., et al. (2017) · Human Genetics · doi:10.1007/s00439-017-1758-y · Cited by 81 · see citing works

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

Vasileiou, G., Vergarajauregui, S., Endele, S. U., Popp, B., Büttner, C., Ekici, A. B., Gérard, M., Bramswig, N. C., Albrecht, B., Clayton‐Smith, J., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.01.014 · Cited by 79 · see citing works

ARID1B-mediated disorders: Mutations and possible mechanisms

Sim, J. C. H., White, S. M., & Lockhart, P. J. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01021 · Cited by 77 · see citing works

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Kim, H., Kim, H.-T., Leach, N. T., Lan, F., Ullmann, R., Silahtaroglu, A., Kurth, I., Nowka, A., Seong, I. S., Shen, Y., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.005 · Cited by 77 · see citing works

Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice

Shibutani, M., Horii, T., Shoji, H., Morita, S., Kimura, M., Terawaki, N., Miyakawa, T., & Hatada, I. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18091872 · Cited by 72 · see citing works

SWI/SNF complex in disorder

Santen, G. W. E., Kriek, M., & van Attikum, H. (2012) · Epigenetics · doi:10.4161/epi.22299 · Cited by 76 · see citing works

Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders

Valencia, A. M., Sankar, A., van der Sluijs, P. J., Satterstrom, F. K., Fu, J. M., Talkowski, M. E., Vergano, S. A. S., Santen, G. W. E., & Kadoch, C. (2023) · Nature Genetics · doi:10.1038/s41588-023-01451-6 · Cited by 77 · see citing works

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Sekiguchi, F., Tsurusaki, Y., Okamoto, N., Teik, K. W., Mizuno, S., Suzumura, H., Isidor, B., Ong, W. P., Haniffa, M. A. M., White, S. M., et al. (2019) · Journal of Human Genetics · doi:10.1038/s10038-019-0667-4 · Cited by 73 · see citing works

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

Sarogni, P., Pallotta, M. M., & Musio, A. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2019-106277 · Cited by 70 · see citing works

Mutations in ARID2 are associated with intellectual disabilities

Shang, L., Cho, M. T., Retterer, K., Folk, L., Humberson, J. B., Rohena, L. O., Sidhu, A., Saliganan, S., Iglesias, A. D., Vitazka, P., et al. (2015) · Neurogenetics · doi:10.1007/s10048-015-0454-0 · Cited by 70 · see citing works

Role of nucleosome remodeling in neurodevelopmental and intellectual disability disorders

López, A. J., & Wood, M. A. (2015) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2015.00100 · Cited by 69 · see citing works

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

Willemsen, M. H., Nijhof, B., Fencková, M., Nillesen, W. M., Bongers, E. M. H. F., Castells‐Nobau, A., Asztalos, L., Viràgh, E., van Bon, B. W. M., Tezel, E., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101490 · Cited by 68 · see citing works

De novo mutations, genetic mosaicism and human disease

Mohiuddin, M., Kooy, R. F., & Pearson, C. E. (2022) · Frontiers in Genetics · doi:10.3389/fgene.2022.983668 · Cited by 66 · see citing works

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

Bramswig, N. C., Caluseriu, O., Lüdecke, H. ‐., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H., Christen, H. ‐., Engels, H., Strom, T. M., et al. (2017) · Human Genetics · doi:10.1007/s00439-017-1757-z · Cited by 66 · see citing works

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

Bramswig, N. C., Lüdecke, H., Alanay, Y., Albrecht, B., Barthelmie, A., Boduroğlu, K., Braunholz, D., Caliebe, A., Chrzańowska, K., Czeschik, J. C., et al. (2015) · Human Genetics · doi:10.1007/s00439-015-1535-8 · Cited by 65 · see citing works

SoxC transcription factors: multifunctional regulators of neurodevelopment

Kavyanifar, A., Turan, S., & Lie, D. C. (2017) · Cell and Tissue Research · doi:10.1007/s00441-017-2708-7 · Cited by 65 · see citing works

Drosophila models of early onset cognitive disorders and their clinical applications

van der Voet, M., Nijhof, B., Oortveld, M. A. W., & Schenck, A. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.01.013 · Cited by 62 · see citing works

The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors

Patel, Z. H., Kottyan, L. C., Lázaro, S., Williams, M. S., Ledbetter, D. H., Tromp, G., Rupert, A., Kohram, M., Wagner, M., Husami, A., et al. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00016 · Cited by 61 · see citing works

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures

Au, P. Y. B., Argiropoulos, B., Parboosingh, J. S., & Innes, A. M. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36320 · Cited by 60 · see citing works

Dual ARID1A/ARID1B loss leads to rapid carcinogenesis and disruptive redistribution of BAF complexes

Wang, Z., Chen, K., Jia, Y., Chuang, J.-C., Sun, X., Lin, Y.-H., Celen, C., Li, L., Huang, F., Liu, X., et al. (2020) · Nature Cancer · doi:10.1038/s43018-020-00109-0 · Cited by 60 · see citing works

The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology

Shpargel, K. B., Mangini, C. L., Xie, G., Ge, K., & Magnuson, T. (2020) · Development · doi:10.1242/dev.187997 · Cited by 58 · see citing works

The Role of Epigenetics in Congenital Heart Disease

Lim, T. B., Foo, S. Y. R., & Chen, C. K. (2021) · Genes · doi:10.3390/genes12030390 · Cited by 60 · see citing works

Exome sequencing greatly expedites the progressive research of Mendelian diseases

Zhang, X. (2014) · Frontiers of Medicine · doi:10.1007/s11684-014-0303-9 · Cited by 58 · see citing works

Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes

Izumi, K. (2016) · Molecular Syndromology · doi:10.1159/000448747 · Cited by 58 · see citing works

Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4

Gao, F., Elliott, N. J., Ho, J., Sharp, A., Shokhirev, M. N., & Hargreaves, D. C. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.06.024 · Cited by 56 · see citing works

Systemic enhancement of serotonin signaling reverses social deficits in multiple mouse models for ASD

Walsh, J. J., Llorach, P., Cardozo Pinto, D. F., Wenderski, W., Christoffel, D. J., Salgado, J. S., Heifets, B. D., Crabtree, G. R., & Malenka, R. C. (2021) · Neuropsychopharmacology · doi:10.1038/s41386-021-01091-6 · Cited by 56 · see citing works

Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin–Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing

Lu, G., Peng, Q., Wu, L., Zhang, J., & Ma, L. (2021) · BMC Medical Genomics · doi:10.1186/s12920-021-01119-2 · Cited by 10 · see citing works

Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype

Bramswig, N. C., Caluseriu, O., Lüdecke, H. ‐., Bolduc, F. V., Noel, N. C. L., Wieland, T., Surowy, H., Christen, H. ‐., Engels, H., Strom, T. M., et al. (2017) · Human Genetics · doi:10.1007/s00439-017-1757-z · Cited by 66 · see citing works

Frameshift Variant in ARID2 in a Chilean Individual with Coffin–Siris Syndrome Phenotype

Merlez, F. M., Zalazar, M. G., & Taucher, S. C. (2021) · Journal of Pediatric Genetics · doi:10.1055/s-0041-1740531

Coffin–Siris syndrome is a SWI / SNF complex disorder

Tsurusaki, Y., Okamoto, N., Ohashi, H., Mizuno, S., Matsumoto, N., Makita, Y., Fukuda, M., Isidor, B., Perrier, J., Aggarwal, S., et al. (2013) · Clinical Genetics · doi:10.1111/cge.12225 · Cited by 141 · see citing works

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients

Gazdagh, G. E., Blyth, M., Scurr, I. J., Turnpenny, P. D., Mehta, S. G., Armstrong, R., McEntagart, M., Newbury-Ecob, R. A., Tobias, E. S., & Joss, S. K. (2018) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2018.04.014 · Cited by 14 · see citing works