Cited by 221Genomics and Rare DiseasesChromatin Remodeling and CancerGenetics and Neurodevelopmental Disorders

The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.

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

Open access

Santen, Gijs W.E., Aten, Emmelien, Vulto-van Silfhout, Anneke T., Pottinger, Caroline, van Bon, Bregje W.M., van Minderhout, Ivonne J.H.M., Snowdowne, Ronelle, van der Lans, Christian A.C., Boogaard, Merel, Linssen, Margot M.L., Vijfhuizen, Linda, van der Wielen, Michiel J.R., Vollebregt, M.J. Ellen, the Coffin-Siris consortium, Breuning, Martijn H., Kriek, Marjolein, van Haeringen, Arie, den Dunnen, Johan T., Hoischen, Alexander, Clayton-Smith, Jill, de Vries, Bert B.A., Hennekam, Raoul C.M., van Belzen, Martine J., Almureikhi, Mariam, Baban, Anwar, Barbosa, Mafalda, Ben-Omran, Tawfeg, Berry, Katherine, Bigoni, Stefania, Boute, Odile, Brueton, Louise, van der Burgt, Ineke, Canham, Natalie, Chandler, Kate E., Chrzanowska, Krystyna, Collins, Amanda L., de Toni, Teresa, Dean, John, den Hollander, Nicolette S., Flore, Leigh Anne, Fryer, Alan, Gardham, Alice, Graham, John M., Harrison, Victoria, Horn, Denise, Jongmans, Marjolijn C., Josifova, Dragana, Kant, Sarina G., Kapoor, Seema, Kingston, Helen, Kini, Usha, Kleefstra, Tjitske, Krajewska-Walasek, Małgorzata, Kramer, Nancy, Maas, Saskia M., Maciel, Patricia, Mancini, Grazia M.S., Maystadt, Isabelle, McKee, Shane, Milunsky, Jeff M., Nampoothiri, Sheela, Newbury-Ecob, Ruth, Nikkel, Sarah M., Parker, Michael J., Pérez-Jurado, Luis A., Robertson, Stephen P., Rooryck, Caroline, Shears, Debbie, Silengo, Margherita, Singh, Ankur, Smigiel, Robert, Soares, Gabriela, Splitt, Miranda, Stewart, Helen, Sweeney, Elizabeth, Tassabehji, May, Tuysuz, Beyhan, van Eerde, Albertien M., Vincent-Delorme, Catherine, Wilson, Louise C., Yesil, Gozde·2013·Human Mutation

DOI 10.1002/humu.22394

Open this paper in CoChat — free account

Abstract

De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis of CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1) and identified pathogenic variants in 45 (71%) patients. We found a high proportion of variants in ARID1B (68%). All four pathogenic variants in ARID1A appeared to be mosaic. By using all variants from the Exome Variant Server as test data, we were able to classify variants in ARID1A, ARID1B, and SMARCB1 reliably as being pathogenic or nonpathogenic. For SMARCA2, SMARCA4, and SMARCE1 several variants in the EVS remained unclassified, underlining the importance of parental testing. We have entered all variant and clinical information in LOVD-powered databases to facilitate further genotype-phenotype correlations, as these will become increasingly important because of the uptake of targeted and untargeted next generation sequencing in diagnostics. The emerging phenotype-genotype correlation is that SMARCB1 patients have the most marked physical phenotype and severe cognitive and growth delay. The variability in phenotype seems most marked in ARID1A and ARID1B patients. Distal limbs anomalies are most marked in ARID1A patients and least in SMARCB1 patients. Numbers are small however, and larger series are needed to confirm this correlation.

Integrity signals

Registry

Crossref · 10.1002/humu.22394

Cites

35 of 35 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?

A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601
MutationTaster evaluates disease-causing potential of sequence alterations
Schwarz, J. M., Rödelsperger, C., Schuelke, M., & Seelow, D. (2010) · Nature Methods · doi:10.1038/nmeth0810-575 · Cited by 2,975
The landscape of cancer genes and mutational processes in breast cancer
Stephens, P. J., Tarpey, P. S., Davies, H. R., Loo, P. V., Greenman, C., Wedge, D. C., Nik‐Zainal, S., Martin, S., Varela, I., Bignell, G. R., et al. (2012) · Nature · doi:10.1038/nature11017 · Cited by 1,731
ARID1A Mutations in Endometriosis-Associated Ovarian Carcinomas
Wiegand, K. C., Shah, S. P., Al-Agha, O. M., Zhao, Y., Tse, K., Zeng, T., Senz, J., McConechy, M. K., Anglesio, M. S., Kalloger, S. E., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1008433 · Cited by 1,712
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
Self-citation
SWI/SNF nucleosome remodellers and cancer
Wilson, B. G., & Roberts, C. W. M. (2011) · Nature reviews. Cancer · doi:10.1038/nrc3068 · Cited by 1,325
LOVD v.2.0: the next generation in gene variant databases
Fokkema, I. F. A. C., Taschner, P. E. M., Schaafsma, G. C. P., Celli, J., Laros, J. F. J., & den Dunnen, J. T. (2011) · Human Mutation · doi:10.1002/humu.21438 · Cited by 1,046
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet · doi:10.1016/s0140-6736(12)61480-9 · Cited by 1,041
Self-citation
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

Flagged first, then by citations

Show all 35 references

Research works printed but not linked: 2

Huisman 2013 PMID 10.1136/jmedgenet-2012-101477 · DOI
Kleefstra 2012 PMID 10.1116/j.ajhg.2012.05.003 · DOI

Sorted by citations

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., et al. (2018) · Nature Reviews Genetics · doi:10.1038/s41576-018-0031-0 · Cited by 392
Self-citation
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP
Helsmoortel, C., Vulto-van Silfhout, A. T., Coe, B. P., Vandeweyer, G., Rooms, L., van den Ende, J., Schuurs-Hoeijmakers, J. H. M., Marcelis, C. L., Willemsen, M. H., Vissers, L. E. L. M., et al. (2014) · Nature Genetics · doi:10.1038/ng.2899 · Cited by 354
Self-citation
COMPASS and SWI/SNF complexes in development and disease
Cenik, B. K., & Shilatifard, A. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-0278-0 · Cited by 280
The BAF complex in development and disease
Alfert, A., Moreno, N., & Kerl, K. (2019) · Epigenetics & Chromatin · doi:10.1186/s13072-019-0264-y · Cited by 255
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders
Sokpor, G., Xie, Y., Rosenbusch, J., & Tuoc, T. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00243 · Cited by 230
A Genotype-First Approach to Defining the Subtypes of a Complex Disease
Stessman, H. A. F., Bernier, R., & Eichler, E. E. (2014) · Cell · doi:10.1016/j.cell.2014.02.002 · Cited by 227
Smarca4 ATPase mutations disrupt direct eviction of PRC1 from chromatin
Stanton, B. Z., Hodges, H. C., Calarco, J. P., Braun, S. M. G., Ku, W. L., Kadoch, C., Zhao, K., & Crabtree, G. R. (2016) · Nature Genetics · doi:10.1038/ng.3735 · Cited by 215
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B. W. M., Coe, B. P., Bernier, R., Green, C., Gerdts, J., Witherspoon, K., Kleefstra, T., Willemsen, M. H., Kumar, R., Bosco, P., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.5 · Cited by 204
Self-citation
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome
Foulkes, W. D., Kamihara, J., Evans, D. G., Brugières, L., Bourdeaut, F., Molenaar, J. J., Walsh, M. F., Brodeur, G. M., & Diller, L. (2017) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-17-0595 · Cited by 191
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 192
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
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 166
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 159
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 148
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
Self-citation
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
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 148
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
Self-citation
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
Aref‐Eshghi, E., Bend, E. G., Hood, R. L., Schenkel, L. C., Carere, D. A., Chakrabarti, R., Nagamani, S. C. S., Cheung, S. W., Campeau, P. M., Prasad, C., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-07193-y · Cited by 133
Self-citation
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
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
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
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
Self-citation
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 111
The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes
Gabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.013 · Cited by 103
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
Self-citation
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
Machol, K., Rousseau, J., Ehresmann, S., Garcia, T., Nguyen, T. T. M., Spillmann, R. C., Sullivan, J. A., Shashi, V., Jiang, Y., Stong, N., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.11.007 · Cited by 86
Self-citation
The transcriptional regulatorADNPlinks the BAF (SWI/SNF) complexes with autism
Vandeweyer, G., Helsmoortel, C., Dijck, A. V., Silfhout, A. T. V., Coe, B. P., Bernier, R., Gerdts, J. A., Rooms, L., van den Ende, J., Bakshi, M., et al. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31413 · Cited by 81
Self-citation
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
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 84
Self-citation
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
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 81
Self-citation
Phenotype and genotype in Nicolaides–Baraitser syndrome
de Sousa, S. B., & Hennekam, R. C. M. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31409 · Cited by 75
Self-citation
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
Self-citation
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 74
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
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening
Gerkes, E. H., Fock, J. M., den Dunnen, W. F. A., van Belzen, M. J., van der Lans, C., Hoving, E. W., Fakkert, I. E., Smith, M. J., Evans, D. G., & Olderode-Berends, M. J. W. (2016) · Neurogenetics · doi:10.1007/s10048-015-0472-y · Cited by 62
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes
Izumi, K. (2016) · Molecular Syndromology · doi:10.1159/000448747 · Cited by 58
SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small‐cell carcinoma of the ovary hypercalcaemic type
Errichiello, E., Mustafa, N., Vetro, A., Notarangelo, L. D., de Jonge, H., Rinaldi, B., Vergani, D., Giglio, S., Morbini, P., & Zuffardi, O. (2017) · The Journal of Pathology · doi:10.1002/path.4926 · Cited by 58
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 61
Neurobiology of ARID1B haploinsufficiency related to neurodevelopmental and psychiatric disorders
Moffat, J. J., Smith, A. L., Jung, E., Ka, M., & Kim, W.-Y. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01060-x · Cited by 53
Creating a neural specific chromatin landscape by npBAF and nBAF complexes
Staahl, B. T., & Crabtree, G. R. (2013) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2013.09.003 · Cited by 52
Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis
Holsten, T., Bens, S., Oyen, F., Nemes, K., Hasselblatt, M., Kordes, U., Siebert, R., Frühwald, M. C., Schneppenheim, R., & Schüller, U. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0143-1 · Cited by 53
BAF subunit switching regulates chromatin accessibility to control cell cycle exit in the developing mammalian cortexPreprint
Braun, S. M. G., Petrova, R., Tang, J., Krokhotin, A., Miller, E. L., Tang, Y., Panagiotakos, G., & Crabtree, G. R. (2021) · Genes & Development · doi:10.1101/gad.342345.120 · Cited by 51
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome
Cappuccio, G., Sayou, C., Tanno, P. L., Tisserant, É., Bruel, A., Kennani, S. E., Sá, J., Low, K. J., Dias, C., Havlovičová, M., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0898-y · Cited by 51
Self-citation
Neurodevelopmental disorders, like cancer, are connected to impaired chromatin remodelers, PI3K/mTOR, and PAK1-regulated MAPK
Nussinov, R., Yavuz, B. R., Arici, M. K., Demirel, H. C., Zhang, M., Liu, Y., Tsai, C., Jang, H., & Tunçbağ, N. (2023) · Biophysical Reviews · doi:10.1007/s12551-023-01054-9 · Cited by 47
The SWI/SNF BAF-A complex is essential for neural crest development
Chandler, R. L., & Magnuson, T. (2016) · Developmental Biology · doi:10.1016/j.ydbio.2016.01.015 · Cited by 49
Clinical features, diagnostic criteria, and management of Coffin–Siris syndrome
Vergano, S. A. S., & Deardorff, M. A. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31411 · Cited by 49
ARID1B controls transcriptional programs of axon projection in an organoid model of the human corpus callosum
Martins‐Costa, C., Wiegers, A., Pham, V. A., Sidhaye, J., Doleschall, B., Novatchkova, M., Lendl, T., Piber, M., Peer, A. M., Möseneder, P., et al. (2024) · Cell stem cell · doi:10.1016/j.stem.2024.04.014 · Cited by 55
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Barish, S., Barakat, T. S., Michel, B. C., Mashtalir, N., Phillips, J. B., Valencia, A. M., Uğur, B., Wegner, J., Scott, T. M., Bostwick, B. L., et al. (2020) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2020.11.003 · Cited by 48
DOORS syndrome: Phenotype, genotype and comparison with Coffin‐Siris syndrome
Campeau, P. M., Hennekam, R. C. M., & The DOORS syndrome collaborative group (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31412 · Cited by 47
Self-citation
The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes
Gripp, K. W., Baker, L., Telegrafi, A. B., & Monaghan, K. G. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37672 · Cited by 46
Validation of Five Facets Mindfulness Questionnaire – Short form, in Spanish, general health care services patients sample: Prediction of depression through mindfulness scale
Asensio-Martínez, Á., Masluk, B., Montero-Marin, J., Olivan-Blázquez, B., Navarro-Gil, M. T., García-Campayo, J., & Magallón-Botaya, R. (2019) · PLOS ONE · doi:10.1371/journal.pone.0214503 · Cited by 45
Mechanism of Action of the SWI/SNF Family Complexes
Chen, K., Yuan, J., Sia, Y., & Chen, Z. (2023) · Nucleus · doi:10.1080/19491034.2023.2165604 · Cited by 45
Clinical utility gene card for: Cornelia de Lange syndrome
Ramos, F. J., Puisac, B., Baquero‐Montoya, C., Gil‐Rodríguez, M. C., Bueno, I., Deardorff, M. A., Hennekam, R. C. M., Kaiser, F. J., Krantz, I. D., Musio, A., et al. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.270 · Cited by 44
Self-citation
Pharmacological disruption of mSWI/SNF complex activity restricts SARS-CoV-2 infection
Wei, J., Patil, A., Collings, C. K., Alfajaro, M. M., Liang, Y., Cai, W. L., Strine, M. S., Filler, R. B., DeWeirdt, P. C., Hanna, R. E., et al. (2023) · Nature Genetics · doi:10.1038/s41588-023-01307-z · Cited by 41
Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability
Mari, F., Marozza, A., Mencarelli, M. A., Rizzo, C. L., Fallerini, C., Dosa, L., Marco, C. D., Carignani, G., Baldassarri, M., Cianci, P., et al. (2014) · Brain and Development · doi:10.1016/j.braindev.2014.08.009 · Cited by 41
Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders
Pagliaroli, L., Porazzi, P., Curtis, A. T., Scopa, C., Mikkers, H. M. M., Freund, C., Daxinger, L., Deliard, S., Welsh, S. A., Offley, S. R., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-26810-x · Cited by 40
Self-citation
The Evolutionary Conserved SWI/SNF Subunits ARID1A and ARID1B Are Key Modulators of Pluripotency and Cell-Fate Determination
Pagliaroli, L., & Trizzino, M. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.643361 · Cited by 40
A Role for the Chromatin‐Remodeling FactorBAZ1Ain Neurodevelopment
Zaghlool, A., Halvardson, J., Zhao, J., Etemadikhah, M., Kalushkova, A., Końska, K., Jernberg‐Wiklund, H., Thuresson, A., & Feuk, L. (2016) · Human Mutation · doi:10.1002/humu.23034 · Cited by 37
First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
Mannino, E. A., Miyawaki, H., Santen, G. W. E., & Vergano, S. A. S. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.40471 · Cited by 38
Self-citation
ARID1Bmutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability
Mignot, C., Moutard, M., Rastetter, A., Boutaud, L., Heide, S., de Villemeur, T. B., Doummar, D., Garel, C., Afenjar, A., Jacquette, A., et al. (2016) · Brain · doi:10.1093/brain/aww181 · Cited by 38
Numerous BAF complex genes are mutated in Coffin–Siris syndrome
Miyake, N., Tsurusaki, Y., & Matsumoto, N. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31406 · Cited by 36
Pseudoacromegaly
Marques, P., & Korbonits, M. (2018) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2018.11.001 · Cited by 36
De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature
Yu, Y., Yao, R., Wang, L., Fan, Y., Huang, X., Hirschhorn, J. N., Dauber, A. N., & Shen, Y. (2015) · BMC Genomics · doi:10.1186/s12864-015-1898-1 · Cited by 35
Molecular Pathogenesis of Ovarian Clear Cell Carcinoma
Gounaris, I., & Brenton, J. D. (2015) · Future Oncology · doi:10.2217/fon.15.45 · Cited by 34
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus
Diets, I. J., Prescott, T., Champaigne, N. L., Mancini, G. M. S., Krossnes, B. K., Frič, R., Kocsis, K., Jongmans, M. C. J., & Kleefstra, T. (2018) · Genetics in Medicine · doi:10.1038/s41436-018-0079-4 · Cited by 31
Self-citation
The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior
Moffat, J. J., Jung, E., Ka, M., Smith, A. L., Jeon, B. T., Santen, G. W. E., & Kim, W.-Y. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2018.08.021 · Cited by 31
Self-citation
Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects
Filatova, A., Rey, L. K., Lechler, M. B., Schaper, J., Hempel, M., Posmyk, R., Szczałuba, K., Santen, G. W. E., Wieczorek, D., & Nuber, U. A. (2019) · Nature Communications · doi:10.1038/s41467-019-10849-y · Cited by 32
Self-citation
Females with de novo aberrations in PHF6: Clinical overlap of Borjeson–Forssman–Lehmann with Coffin–Siris syndrome
Zweier, C., Rittinger, O., Bader, I., Berland, S., Cole, T. R. P., Degenhardt, F., Donato, N. D., Graul-Neumann, L. M., Hoyer, J., Lynch, S. A., et al. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31408 · Cited by 31
Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features
Li, D., Wang, Q., Gong, N. N., Kurolap, A., Feldman, H. B., Boy, N., Brügger, M., Grand, K., McWalter, K. M., Sacoto, M. J. G., et al. (2021) · Science Advances · doi:10.1126/sciadv.abf2066 · Cited by 30
Microarray Expression Profiles of lncRNAs and mRNAs in Postoperative Cognitive Dysfunction
Zhang, Y., Liu, Y.-X., Xiao, Q., Liu, Q., Deng, R., Bian, J., Deng, I. B., Al‐Hawwas, M., & Yu, F. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00694 · Cited by 28
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experiencePreprint
Miller, C. R., Lee, K., Pfau, R. B., Reshmi, S. C., Corsmeier, D. J., Hashimoto, S., Dave‐Wala, A., Jayaraman, V., Koboldt, D. C., Matthews, T., et al. (2020) · Molecular Case Studies · doi:10.1101/mcs.a005231 · Cited by 29
Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene
Vals, M., Õiglane‐Shlik, E., Nõukas, M., Shor, R., Peet, A., Kals, M., Kivistik, P. A., Metspalu, A., & Õunap, K. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.25 · Cited by 26
Molecular subtyping and improved treatment of neurodevelopmental disease
Stessman, H. A. F., Turner, T. N., & Eichler, E. E. (2016) · Genome Medicine · doi:10.1186/s13073-016-0278-z · Cited by 25
Neurodevelopmental Disorders Caused by Defective Chromatin Remodeling: Phenotypic Complexity Is Highlighted by a Review of ATRX Function
Timpano, S., & Picketts, D. J. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00885 · Cited by 28
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies
Chen, C., Lattier, J., Zhu, W., Rosenfeld, J. A., Wang, L., Scott, T. M., Du, H., Patel, V., Dang, A., Magoulas, P. L., et al. (2021) · Genetics in Medicine · doi:10.1016/j.gim.2021.09.017 · Cited by 25
The developmental and pathogenic roles of BAF57, a special subunit of the BAF chromatin‐remodeling complex
Lomelı́, H., & Castillo‐Robles, J. (2016) · FEBS Letters · doi:10.1002/1873-3468.12201 · Cited by 24
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency
Sim, J. C. H., White, S. M., Fitzpatrick, E., Wilson, G. R. A., Gillies, G., Pope, K., Mountford, H. S., Tørring, P. M., McKee, S. A., Silfhout, A. T. V., et al. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-9-43 · Cited by 23
Self-citation
SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases
Zárate, Y. A., Bhoj, E. J. K., Kaylor, J. A., Li, D., Tsurusaki, Y., Miyake, N., Matsumoto, N., Phadke, S. R., Escobar, L., Irani, A., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37722 · Cited by 23
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood
Latorre-Pellicer, A., Gil‐Salvador, M., Parenti, I., Lucia‐Campos, C., Trujillano, L., Marcos‐Alcalde, Í., Arnedo, M., Ascaso, Á., Casas, A. A., Antoñanzas-Pérez, R., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-94958-z · Cited by 23
A novel human stem cell model for Coffin–Siris syndrome-like syndrome reveals the importance of SOX11 dosage for neuronal differentiation and survival
Turan, S., Boerstler, T., Kavyanifar, A., Loskarn, S., Reis, A., Winner, B., & Lie, D. C. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz089 · Cited by 22
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
van der Sluijs, P. J., Joosten, M., Alby, C., Attié‐Bitach, T., Gilmore, K. L., Dubourg, C., Fradin, M., Wang, T., Kurtz‐Nelson, E. C., Ahlers, K. P., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.04.010 · Cited by 21
Self-citation
Papillary thyroid cancer in a patient with interstitial 6q25 deletion including ARID1B
Vengoechea, J. E., Carpenter, L., & Zárate, Y. A. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36515 · Cited by 21
Observation of Cleft Palate in an Individual with SOX11 Mutation
Khan, U., Study, D., Baker, E., & Clayton‐Smith, J. (2017) · The Cleft Palate-Craniofacial Journal · doi:10.1177/1055665617739312 · Cited by 21
Self-citation
Brain Tumors and Syndromes in Children
Hopman, S. M. J., Merks, J. H. M., Aalfs, C. M., Hennekam, R. C. M., & Bleeker, F. E. (2014) · Neuropediatrics · doi:10.1055/s-0034-1368116 · Cited by 21
Self-citation
Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue
Janowski, M., Milewska, M., Zare, P., & Pękowska, A. (2021) · Pharmaceuticals · doi:10.3390/ph14080765 · Cited by 21
Individual components of the SWI/SNF chromatin remodelling complex have distinct roles in memory neurons of the Drosophila mushroom body
Chubak, M. C., Nixon, K. C. J., Stone, M. H., Raun, N., Rice, S. L., Sarikahya, M. H., Jones, S. G., Lyons, T. A., Jakub, T. E., Mainland, R. L., et al. (2019) · Disease Models & Mechanisms · doi:10.1242/dmm.037325 · Cited by 19
Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming
Kim, H., Kim, D., Cho, Y., Kim, K., Roh, J. D., Kim, Y., Yang, E., Kim, S. S., Ahn, S., Kim, H., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-32748-5 · Cited by 19
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
Singh, A. K., Allington, G., Viviano, S., McGee, S., Kiziltug, E., Ma, S., Zhao, S., Mekbib, K. Y., Shohfi, J., Duy, P. Q., et al. (2023) · Brain · doi:10.1093/brain/awad405 · Cited by 20
Self-citation
Chromatin remodelling complexes in cerebral cortex development and neurodevelopmental disorders
D’Souza, L., Channakkar, A. S., & Muralidharan, B. (2021) · Neurochemistry International · doi:10.1016/j.neuint.2021.105055 · Cited by 21
Arid1a-Plagl1-Hh signaling is indispensable for differentiation-associated cell cycle arrest of tooth root progenitors
Du, J., Jing, J., Yuan, Y., Feng, J., Han, X., Chen, S., Li, X., Peng, W., Xu, J., Ho, T., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108964 · Cited by 18
Epigenetic regulation of craniofacial development and disease
Shull, L. C., & Artinger, K. (2023) · Birth Defects Research · doi:10.1002/bdr2.2271 · Cited by 22
Reprogramming human fibroblasts to neurons by recapitulating an essential microRNA-chromatin switch
Tang, J., Yoo, A. S. J., & Crabtree, G. R. (2013) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.07.001 · Cited by 18
Expanding the phenotypic spectrum associated with DPF2: A new case report
Knapp, K. M., Poke, G., Jenkins, D. E., Truter, W., & Bicknell, L. S. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61262 · Cited by 18
A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features
Smith, J. A., Holden, K. R., Friez, M. J., Jones, J. R., & Lyons, M. J. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37945 · Cited by 18
Confirmation of an ARID2 defect in SWI/SNF‐related intellectual disability
Paemel, R. V., Bruyne, P. D., van der Straaten, S., D’Hondt, M., FRÄNKEL, U., Dheedene, A., Menten, B., & Callewaert, B. L. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38407 · Cited by 18
Distal 22q11.2 Microduplication
Pinchefsky, E. F., Laneuville, L., & Srour, M. (2017) · Child Neurology Open · doi:10.1177/2329048x17737651 · Cited by 18
Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome
Grochowski, C. M., Krepischi, A. C. V., Eisfeldt, J., Du, H., Bertola, D. R., Oliveira, D., da Costa, S. S., Lupski, J. R., Lindstrand, A., & Carvalho, C. M. B. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.708348 · Cited by 17
Acetate supplementation restores cognitive deficits caused by ARID1A haploinsufficiency in excitatory neurons
Liu, P., Dai, S., Mi, T., Tang, G.-B., Wang, Z., Wang, H., Du, H., Tang, Y., Teng, Z., & Liu, C. (2022) · EMBO Molecular Medicine · doi:10.15252/emmm.202215795 · Cited by 17

Authors: 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., Vijfhuizen, L., van der Wielen, M. J. R., Vollebregt, M. J. E., the Coffin-Siris consortium, Breuning, M. H., Kriek, M., van Haeringen, A., den Dunnen, J. T., Hoischen, A., Clayton-Smith, J., de Vries, B. B. A., Hennekam, R. C. M., van Belzen, M. J., Almureikhi, M., Baban, A., Barbosa, M., Ben-Omran, T., Berry, K., Bigoni, S., Boute, O., Brueton, L., van der Burgt, I., Canham, N., Chandler, K. E., Chrzanowska, K., Collins, A. L., de Toni, T., Dean, J., den Hollander, N. S., Flore, L. A., Fryer, A., Gardham, A., Graham, J. M., Harrison, V., Horn, D., Jongmans, M. C., Josifova, D., Kant, S. G., Kapoor, S., Kingston, H., Kini, U., Kleefstra, T., Krajewska-Walasek, M., Kramer, N., Maas, S. M., Maciel, P., Mancini, G. M. S., Maystadt, I., McKee, S., Milunsky, J. M., Nampoothiri, S., Newbury-Ecob, R., Nikkel, S. M., Parker, M. J., Pérez-Jurado, L. A., Robertson, S. P., Rooryck, C., Shears, D., Silengo, M., Singh, A., Smigiel, R., Soares, G., Splitt, M., Stewart, H., Sweeney, E., Tassabehji, M., Tuysuz, B., van Eerde, A. M., Vincent-Delorme, C., Wilson, L. C., & Yesil, G.
Affiliations: Leiden University Medical Center (NL)
Department of Human Genetics; Radboud University Medical Centre; Nijmegen The Netherlands
Glan Clwyd Hospital (GB)
Center for Human and Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands
Radboud University Medical Center (NL)
Manchester Biomedical Research Centre; MAHSC, St Mary's Hospital; Manchester UK
Amsterdam UMC Location University of Amsterdam (NL)
Instituto Gulbenkian de Ciência (PT)
University of Ferrara (IT)
Université de Lille (FR)
University of Manchester (GB)
Boston Children's Hospital (US)
Charité – Universitätsmedizin Berlin (DE)
Radboud University Nijmegen (NL)
Guy's and St Thomas' NHS Foundation Trust (GB)
Leiden University (NL)
Maulana Azad Medical College (IN)
Cedars-Sinai Medical Center (US)
University of Amsterdam (NL)
Erasmus University Rotterdam (NL)
Belfast Health and Social Care Trust (GB)
Amrita Vishwa Vidyapeetham (IN)
St. Michael's Hospital (CA)
National Health Service (GB)
University of Otago (NZ)
Université de Bordeaux (FR)
University of Turin (IT)
University College London (GB)
Corresponding author: Santen, Gijs W.E.
ORCID: Santen, Gijs W.E.
Aten, Emmelien
Pottinger, Caroline
Linssen, Margot M.L.
Breuning, Martijn H.
Hoischen, Alexander
Hennekam, Raoul C.M.
Baban, Anwar
Barbosa, Mafalda
Bigoni, Stefania
Collins, Amanda L.
Dean, John
Gardham, Alice
Graham, John M.
Horn, Denise
Jongmans, Marjolijn C.
Josifova, Dragana
Kant, Sarina G.
Kini, Usha
Kleefstra, Tjitske
Maas, Saskia M.
Mancini, Grazia M.S.
Maystadt, Isabelle
McKee, Shane
Nampoothiri, Sheela
Newbury-Ecob, Ruth
Nikkel, Sarah M.
Parker, Michael J.
Robertson, Stephen P.
Rooryck, Caroline
Silengo, Margherita
Singh, Ankur
Soares, Gabriela
Splitt, Miranda
Stewart, Helen
Tassabehji, May
Wilson, Louise C.
Venue: Human Mutation
Publisher: Wiley
Published: 2013-08-30
Volume: 34
Issue: 11
Pages: 1519-1528
ISSN: 1059-7794 (ISSN-L)
DOI: 10.1002/humu.22394
OpenAlex: W2024699009
Cited by: 221
References: 35
Citations by year: 2026: 14 · 2025: 11 · 2024: 16 · 2023: 27 · 2022: 16 · 2021: 24 · 2020: 14 · 2019: 20 · 2018: 18 · 2017: 9 · 2016: 14 · 2015: 9 · 2014: 25 · 2013: 2
FWCI: 10.95
Type: journal article
Language: en
Open access: green
hdl.handle.net
Licence: cc-by-nc-nd
doi.wiley.com/10.1002/tdm_license_1.1 (tdm)
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Human Mutation (publishedVersion)
PubMed (publishedVersion)
Pure Amsterdam UMC (publishedVersion)
Research Explorer (The University of Manchester) (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
Leiden Repository (Leiden University) (submittedVersion)
CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion)
Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT) (submittedVersion, cc-by-nc-nd)
Radboud Repository (Radboud University) (submittedVersion)
Funders: Santen
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: Coffin-Siris syndrome, Nicolaides-Baraitser syndrome, SWI/SNF complex, genotype-phenotype correlation, ARID1A, ARID1B, SMARCB1, SMARCA2, SMARCA4, SMARCE1, germline pathogenic variants, mosaicism, limb malformations, intellectual disability, growth delay, LOVD
MeSH terms: Abnormalities, Multiple, SMARCB1 Protein, Chromosomal Proteins, Non-Histone, DNA Helicases, DNA-Binding Proteins, Exons, Face, Hand Deformities, Congenital, Humans, Intellectual Disability, Micrognathism, Neck, Nuclear Proteins, Phenotype, Transcription Factors, Facies, Gene Order, Multiprotein Complexes, Genetic Association Studies

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

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

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