{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T17:03:15Z","timestamp":1772557395864,"version":"3.50.1"},"reference-count":35,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T00:00:00Z","timestamp":1768608000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T00:00:00Z","timestamp":1768608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Baoding Science and Technology Bureau Science and Technology Project","award":["No. 2041ZF275"],"award-info":[{"award-number":["No. 2041ZF275"]}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["No. 2022YFC2703400"],"award-info":[{"award-number":["No. 2022YFC2703400"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["No. 2017YFC100170"],"award-info":[{"award-number":["No. 2017YFC100170"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Coffin-Siris Syndrome (CSS) is a neurodevelopmental disorder caused by variants in genes encoding BRG1- and BRM-associated factor\u00a0(BAF) chromatin-remodeling complex.\n                    <jats:italic>ARID1B<\/jats:italic>\n                    gene variants are the most common cause of CSS. This study aimed to identify novel pathogenic\n                    <jats:italic>ARID1B<\/jats:italic>\n                    variants in patients clinically diagnosed with CSS and to explore their pathogenic role. In this study, eight patients clinically diagnosed with CSS were enrolled, and whole exome sequencing (WES) was performed to identify potential pathogenic variants. Heterozygous variants in the\n                    <jats:italic>ARID1B<\/jats:italic>\n                    gene were identified in six patients, including one previously reported pathogenic nonsense variant and five novel pathogenic truncating variants. The combined annotation-dependent depletion (CADD) scores\u00a0of the five novel variants were significantly above the mutation significance cutoff (MSC), suggesting their potential pathogenicity. According to the guidelines of the American College of Medical Genetics and Genomics (ACMG), these five novel variants were classified as pathogenic.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Conclusions<\/jats:italic>\n                    : Our findings add five novel variants to the list of known pathogenic variants of the\n                    <jats:italic>ARID1B<\/jats:italic>\n                    gene. This study further clarifies an enhanced connection between\n                    <jats:italic>ARID1B<\/jats:italic>\n                    gene variants and CSS and expands the variant spectrum of CSS.\n                    <jats:table-wrap>\n                      <jats:table>\n                        <jats:tbody>\n                          <jats:tr>\n                            <jats:td align=\"left\">\n                              What is Known:\u2022 Coffin\u2013Siris syndrome (CSS) is a rare neurodevelopmental disorder characterized by developmental delay, intellectual disability, and hypoplasia of the fifth digits or nails.\u2022 Pathogenic variants in genes encoding subunits of the BAF chromatin-remodeling complex are the major genetic causes of CSS, with\n                              <jats:italic>ARID1B<\/jats:italic>\n                              being the most frequently mutated gene, and\u00a0most variants of which are truncating and\u00a0lead to haploinsuffucuency.\n                            <\/jats:td>\n                          <\/jats:tr>\n                          <jats:tr>\n                            <jats:td align=\"left\">\n                              What is New:\u2022 Five novel heterozygous truncating variants in\n                              <jats:italic>ARID1B<\/jats:italic>\n                              were identified in eight patients clinically diagnosed with Coffin\u2013Siris syndrome.\u2022 All novel variants showed high CADD scores and were classified as pathogenic according to ACMG guidelines.\n                            <\/jats:td>\n                          <\/jats:tr>\n                        <\/jats:tbody>\n                      <\/jats:table>\n                    <\/jats:table-wrap>\n                  <\/jats:p>","DOI":"10.1007\/s00431-025-06729-x","type":"journal-article","created":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T02:11:18Z","timestamp":1768615878000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of novel variants in the ARID1B gene causing Coffin\u2013Siris syndrome"],"prefix":"10.1007","volume":"185","author":[{"given":"Yan","family":"Ge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin-Yi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Han","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing-Tao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Meng","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao-Chun","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui-Qian","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Yu","family":"Lan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-Ling","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhong-Sheng","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Shen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2026,1,17]]},"reference":[{"key":"6729_CR1","doi-asserted-by":"publisher","first-page":"548","DOI":"10.1111\/cge.12225","volume":"85","author":"Y Tsurusaki","year":"2014","unstructured":"Tsurusaki Y, Okamoto N, Ohashi H, Mizuno S, Matsumoto N, Makita Y, Fukuda M, Isidor B, Perrier J, Aggarwal S et al (2014) Coffin-Siris syndrome is a SWI\/SNF complex disorder. Clin Genet 85:548\u2013554. https:\/\/doi.org\/10.1111\/cge.12225","journal-title":"Clin Genet"},{"key":"6729_CR2","unstructured":"Schrier Vergano S, Santen G, Wieczorek D, Matsumoto N (1993) Coffin-Siris syndrome. In: GeneReviews(\u00ae), Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds) University of Washington, Seattle Copyright \u00a9 1993\u20132025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.: Seattle (WA)"},{"key":"6729_CR3","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1001\/archpedi.1970.02100050435009","volume":"119","author":"GS Coffin","year":"1970","unstructured":"Coffin GS, Siris E (1970) Mental retardation with absent fifth fingernail and terminal phalanx. Am J Dis Child 119:433\u2013439. https:\/\/doi.org\/10.1001\/archpedi.1970.02100050435009","journal-title":"Am J Dis Child"},{"key":"6729_CR4","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1038\/ng.2217","volume":"44","author":"GW Santen","year":"2012","unstructured":"Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y et al (2012) Mutations in SWI\/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet 44:379\u2013380. https:\/\/doi.org\/10.1038\/ng.2217","journal-title":"Nat Genet"},{"key":"6729_CR5","doi-asserted-by":"publisher","first-page":"376","DOI":"10.1038\/ng.2219","volume":"44","author":"Y Tsurusaki","year":"2012","unstructured":"Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K et al (2012) Mutations affecting components of the SWI\/SNF complex cause Coffin-Siris syndrome. Nat Genet 44:376\u2013378. https:\/\/doi.org\/10.1038\/ng.2219","journal-title":"Nat Genet"},{"key":"6729_CR6","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1016\/j.ajhg.2018.12.014","volume":"104","author":"A Zawerton","year":"2019","unstructured":"Zawerton A, Yao B, Yeager JP, Pippucci T, Haseeb A, Smith JD, Wischmann L, K\u00fchl SJ, Dean JCS, Pilz DT et al (2019) De novo SOX4 variants cause a neurodevelopmental disease associated with mild dysmorphism. Am J Hum Genet 104:246\u2013259. https:\/\/doi.org\/10.1016\/j.ajhg.2018.12.014","journal-title":"Am J Hum Genet"},{"key":"6729_CR7","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1007\/s10048-015-0454-0","volume":"16","author":"L Shang","year":"2015","unstructured":"Shang L, Cho MT, Retterer K, Folk L, Humberson J, Rohena L, Sidhu A, Saliganan S, Iglesias A, Vitazka P et al (2015) Mutations in ARID2 are associated with intellectual disabilities. Neurogenetics 16:307\u2013314. https:\/\/doi.org\/10.1007\/s10048-015-0454-0","journal-title":"Neurogenetics"},{"key":"6729_CR8","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1016\/j.ajhg.2018.01.014","volume":"102","author":"G Vasileiou","year":"2018","unstructured":"Vasileiou G, Vergarajauregui S, Endele S, Popp B, B\u00fcttner C, Ekici AB, Gerard M, Bramswig NC, Albrecht B, Clayton-Smith J et al (2018) Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome. Am J Hum Genet 102:468\u2013479. https:\/\/doi.org\/10.1016\/j.ajhg.2018.01.014","journal-title":"Am J Hum Genet"},{"key":"6729_CR9","doi-asserted-by":"publisher","first-page":"1096","DOI":"10.1016\/j.ajhg.2020.11.003","volume":"107","author":"S Barish","year":"2020","unstructured":"Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B et al (2020) BICRA, a SWI\/SNF complex member, is associated with BAF-disorder related phenotypes in humans and model organisms. Am J Hum Genet 107:1096\u20131112. https:\/\/doi.org\/10.1016\/j.ajhg.2020.11.003","journal-title":"Am J Hum Genet"},{"key":"6729_CR10","doi-asserted-by":"publisher","first-page":"5121","DOI":"10.1093\/hmg\/ddt366","volume":"22","author":"D Wieczorek","year":"2013","unstructured":"Wieczorek D, B\u00f6gershausen N, Beleggia F, Steiner-Haldenst\u00e4tt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altm\u00fcller J et al (2013) A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 22:5121\u20135135. https:\/\/doi.org\/10.1093\/hmg\/ddt366","journal-title":"Hum Mol Genet"},{"key":"6729_CR11","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1016\/j.ajhg.2018.11.007","volume":"104","author":"K Machol","year":"2019","unstructured":"Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N et al (2019) Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay. Am J Hum Genet 104:164\u2013178. https:\/\/doi.org\/10.1016\/j.ajhg.2018.11.007","journal-title":"Am J Hum Genet"},{"key":"6729_CR12","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1016\/j.ajhg.2019.02.001","volume":"104","author":"KCJ Nixon","year":"2019","unstructured":"Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N, Baralle D, McKee S et al (2019) A syndromic neurodevelopmental disorder caused by mutations in SMARCD1, a core SWI\/SNF subunit needed for context-dependent neuronal gene regulation in flies. Am J Hum Genet 104:596\u2013610. https:\/\/doi.org\/10.1016\/j.ajhg.2019.02.001","journal-title":"Am J Hum Genet"},{"key":"6729_CR13","doi-asserted-by":"publisher","first-page":"1764","DOI":"10.1002\/ajmg.a.38844","volume":"176","author":"L M\u00e4\u00e4tt\u00e4nen","year":"2018","unstructured":"M\u00e4\u00e4tt\u00e4nen L, Hietala M, Ignatius J, Arvio M (2018) A 69-year-old woman with Coffin-Siris syndrome. Am J Med Genet A 176:1764\u20131767. https:\/\/doi.org\/10.1002\/ajmg.a.38844","journal-title":"Am J Med Genet A"},{"key":"6729_CR14","doi-asserted-by":"publisher","first-page":"1865","DOI":"10.1002\/ajmg.a.35415","volume":"158a","author":"SA Schrier","year":"2012","unstructured":"Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D\u2019Avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA et al (2012) The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases. Am J Med Genet A 158a:1865\u20131876. https:\/\/doi.org\/10.1002\/ajmg.a.35415","journal-title":"Am J Med Genet A"},{"key":"6729_CR15","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1007\/s00439-023-02622-5","volume":"143","author":"A Schmetz","year":"2024","unstructured":"Schmetz A, L\u00fcdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, Chatron N, Chrzanowska K, Codina-Sol\u00e0 M et al (2024) Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals. Hum Genet 143:71\u201384. https:\/\/doi.org\/10.1007\/s00439-023-02622-5","journal-title":"Hum Genet"},{"key":"6729_CR16","doi-asserted-by":"publisher","first-page":"1272","DOI":"10.1016\/j.cell.2018.09.032","volume":"175","author":"N Mashtalir","year":"2018","unstructured":"Mashtalir N, D\u2019Avino AR, Michel BC, Luo J, Pan J, Otto JE, Zullow HJ, McKenzie ZM, Kubiak RL, St Pierre R et al (2018) Modular organization and assembly of SWI\/SNF family chromatin remodeling complexes. Cell 175:1272-1288.e1220. https:\/\/doi.org\/10.1016\/j.cell.2018.09.032","journal-title":"Cell"},{"key":"6729_CR17","doi-asserted-by":"publisher","first-page":"3637","DOI":"10.1038\/s41388-021-01781-x","volume":"40","author":"M Wanior","year":"2021","unstructured":"Wanior M, Kr\u00e4mer A, Knapp S, Joerger AC (2021) Exploiting vulnerabilities of SWI\/SNF chromatin remodelling complexes for cancer therapy. Oncogene 40:3637\u20133654. https:\/\/doi.org\/10.1038\/s41388-021-01781-x","journal-title":"Oncogene"},{"key":"6729_CR18","doi-asserted-by":"publisher","DOI":"10.1186\/s13072-019-0264-y","volume":"12","author":"A Alfert","year":"2019","unstructured":"Alfert A, Moreno N, Kerl K (2019) The BAF complex in development and disease. Epigenet Chromatin 12:19. https:\/\/doi.org\/10.1186\/s13072-019-0264-y","journal-title":"Epigenet Chromatin"},{"key":"6729_CR19","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1007\/s00439-024-02688-9","volume":"143","author":"E Bosch","year":"2024","unstructured":"Bosch E, G\u00fcse E, Kirchner P, Winterpacht A, Walther M, Alders M, Kerkhof J, Ekici AB, Sticht H, Sadikovic B et al (2024) The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation. Hum Genet 143:965\u2013978. https:\/\/doi.org\/10.1007\/s00439-024-02688-9","journal-title":"Hum Genet"},{"key":"6729_CR20","doi-asserted-by":"publisher","first-page":"1519","DOI":"10.1002\/humu.22394","volume":"34","author":"GW Santen","year":"2013","unstructured":"Santen GW, Aten E, Vulto-van Silfhout AT, Pottinger C, van Bon BW, van Minderhout IJ, Snowdowne R, van der Lans CA, Boogaard M, Linssen MM et al (2013) Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients. Hum Mutat 34:1519\u20131528. https:\/\/doi.org\/10.1002\/humu.22394","journal-title":"Hum Mutat"},{"key":"6729_CR21","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1111\/j.1399-0004.2011.01755.x","volume":"82","author":"C Halgren","year":"2012","unstructured":"Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK et al (2012) Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B. Clin Genet 82:248\u2013255. https:\/\/doi.org\/10.1111\/j.1399-0004.2011.01755.x","journal-title":"Clin Genet"},{"key":"6729_CR22","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.pnpbp.2018.08.021","volume":"89","author":"JJ Moffat","year":"2019","unstructured":"Moffat JJ, Jung EM, Ka M, Smith AL, Jeon BT, Santen GWE, Kim WY (2019) The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior. Prog Neuropsychopharmacol Biol Psychiatry 89:30\u201338. https:\/\/doi.org\/10.1016\/j.pnpbp.2018.08.021","journal-title":"Prog Neuropsychopharmacol Biol Psychiatry"},{"key":"6729_CR23","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1093\/bioinformatics\/btq027","volume":"26","author":"P Krawitz","year":"2010","unstructured":"Krawitz P, R\u00f6delsperger C, J\u00e4ger M, Jostins L, Bauer S, Robinson PN (2010) Microindel detection in short-read sequence data. Bioinformatics 26:722\u2013729. https:\/\/doi.org\/10.1093\/bioinformatics\/btq027","journal-title":"Bioinformatics"},{"key":"6729_CR24","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M et al (2010) The genome analysis toolkit: a mapreduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297\u20131303. https:\/\/doi.org\/10.1101\/gr.107524.110","journal-title":"Genome Res"},{"key":"6729_CR25","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164\u2013e164. https:\/\/doi.org\/10.1093\/nar\/gkq603","journal-title":"Nucleic Acids Res"},{"key":"6729_CR26","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1089\/152791600459894","volume":"1","author":"S Lalitha","year":"2000","unstructured":"Lalitha S (2000) Primer premier 5. Biotech Software & Internet Report 1:270\u2013272. https:\/\/doi.org\/10.1089\/152791600459894","journal-title":"Biotech Software & Internet Report"},{"key":"6729_CR27","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1126\/science.289.5480.782","volume":"289","author":"J Kaukonen","year":"2000","unstructured":"Kaukonen J, Juselius JK, Tiranti V, Kytt\u00e4l\u00e4 A, Zeviani M, Comi GP, Ker\u00e4nen S, Peltonen L, Suomalainen A (2000) Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289:782\u2013785. https:\/\/doi.org\/10.1126\/science.289.5480.782","journal-title":"Science"},{"key":"6729_CR28","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1038\/nmeth.3739","volume":"13","author":"Y Itan","year":"2016","unstructured":"Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J et al (2016) The mutation significance cutoff: gene-level thresholds for variant predictions. Nat Methods 13:109\u2013110. https:\/\/doi.org\/10.1038\/nmeth.3739","journal-title":"Nat Methods"},{"key":"6729_CR29","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1038\/ng.2892","volume":"46","author":"M Kircher","year":"2014","unstructured":"Kircher M, Witten DM, Jain P, O\u2019Roak BJ, Cooper GM, Shendure J (2014) A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet 46:310\u2013315. https:\/\/doi.org\/10.1038\/ng.2892","journal-title":"Nat Genet"},{"key":"6729_CR30","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of medical genetics and genomics and the association for molecular pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"6729_CR31","doi-asserted-by":"publisher","first-page":"9236","DOI":"10.1158\/0008-5472.Can-05-1225","volume":"65","author":"NG Nagl Jr.","year":"2005","unstructured":"Nagl NG Jr., Patsialou A, Haines DS, Dallas PB, Beck GR Jr., Moran E (2005) The p270 (ARID1A\/SMARCF1) subunit of mammalian SWI\/SNF-related complexes is essential for normal cell cycle arrest. Cancer Res 65:9236\u20139244. https:\/\/doi.org\/10.1158\/0008-5472.Can-05-1225","journal-title":"Cancer Res"},{"key":"6729_CR32","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1038\/cr.2011.32","volume":"21","author":"DC Hargreaves","year":"2011","unstructured":"Hargreaves DC, Crabtree GR (2011) ATP-dependent chromatin remodeling: genetics, genomics and mechanisms. Cell Res 21:396\u2013420. https:\/\/doi.org\/10.1038\/cr.2011.32","journal-title":"Cell Res"},{"key":"6729_CR33","doi-asserted-by":"publisher","first-page":"1295","DOI":"10.1038\/s41436-018-0330-z","volume":"21","author":"PJ van der Sluijs","year":"2019","unstructured":"van der Sluijs PJ, Jansen S, Vergano SA, Adachi-Fukuda M, Alanay Y, AlKindy A, Baban A, Bayat A, Beck-W\u00f6dl S, Berry K et al (2019) The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med 21:1295\u20131307. https:\/\/doi.org\/10.1038\/s41436-018-0330-z","journal-title":"Genet Med"},{"key":"6729_CR34","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1016\/j.gpb.2021.08.001","volume":"19","author":"T Chen","year":"2021","unstructured":"Chen T, Chen X, Zhang S, Zhu J, Tang B, Wang A, Dong L, Zhang Z, Yu C, Sun Y et al (2021) The genome sequence archive family: toward explosive data growth and diverse data types. Genom Proteom Bioinf 19:578\u2013583. https:\/\/doi.org\/10.1016\/j.gpb.2021.08.001","journal-title":"Genom Proteom Bioinf"},{"key":"6729_CR35","doi-asserted-by":"publisher","first-page":"D30","DOI":"10.1093\/nar\/gkae978","volume":"53","author":"Database Resources of the National Genomics Data Center","year":"2025","unstructured":"Database Resources of the National Genomics Data Center (2025) China national center for bioinformation in 2025. Nucleic Acids Res 53:D30-d44. https:\/\/doi.org\/10.1093\/nar\/gkae978","journal-title":"Nucleic Acids Res"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-025-06729-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00431-025-06729-x","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-025-06729-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T15:22:32Z","timestamp":1772551352000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00431-025-06729-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,17]]},"references-count":35,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2026,2]]}},"alternative-id":["6729"],"URL":"https:\/\/doi.org\/10.1007\/s00431-025-06729-x","relation":{},"ISSN":["1432-1076"],"issn-type":[{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,17]]},"assertion":[{"value":"28 October 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 December 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 December 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 January 2026","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was performed in accordance with the principles of the Declaration of Helsinki. The project was approved by the Ethics Committee of the Chinese PLA General Hospital (Approval No. S2018-066\u201301). Written informed consent was obtained from all patients and their parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"86"}}