{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T23:53:48Z","timestamp":1792626828503,"version":"4.5.0"},"reference-count":74,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,6,3]],"date-time":"2021-06-03T00:00:00Z","timestamp":1622678400000},"content-version":"vor","delay-in-days":184,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2020,12]]},"DOI":"10.1016\/j.ajhg.2020.11.003","type":"journal-article","created":{"date-parts":[[2020,11,23]],"date-time":"2020-11-23T10:37:05Z","timestamp":1606127825000},"page":"1096-1112","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":51,"title":["BICRA, a SWI\/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms"],"prefix":"10.1016","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7346-3207","authenticated-orcid":false,"given":"Scott","family":"Barish","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tahsin Stefan","family":"Barakat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brittany C.","family":"Michel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nazar","family":"Mashtalir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer B.","family":"Phillips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfredo M.","family":"Valencia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berrak","family":"Ugur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeremy","family":"Wegner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiana M.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brett","family":"Bostwick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Murdock","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongzheng","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Perenthaler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Nikoncuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjon","family":"van Slegtenhorst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice S.","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Douglas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance","family":"Rodan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Stals","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Faoucher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetan","family":"Lesca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Edery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendra L.","family":"Engleman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dihong","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Thiffault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Herriges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Gass","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond J.","family":"Louie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliot","family":"Stolerman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camerun","family":"Washington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Vetrini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aiko","family":"Otsubo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria M.","family":"Pratt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erin","family":"Conboy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kayla","family":"Treat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nora","family":"Shannon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose","family":"Camacho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Wakeling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chun-An","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monte","family":"Westerfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Wangler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinya","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cigall","family":"Kadoch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5992-5989","authenticated-orcid":false,"given":"Hugo J.","family":"Bellen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2020.11.003_bib1","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1038\/nsmb1324","article-title":"Gene regulation through nuclear organization","volume":"14","author":"Sexton","year":"2007","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2020.11.003_bib2","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1146\/annurev.genet.38.072902.091907","article-title":"Epigenetic regulation of cellular memory by the Polycomb and Trithorax group proteins","volume":"38","author":"Ringrose","year":"2004","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib3","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1016\/j.tig.2008.12.005","article-title":"Genetics and epigenetics: stability and plasticity during cellular differentiation","volume":"25","author":"Mohn","year":"2009","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib4","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/nrg2522","article-title":"Nucleosome positioning and gene regulation: advances through genomics","volume":"10","author":"Jiang","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib5","doi-asserted-by":"crossref","first-page":"352","DOI":"10.3389\/fncel.2019.00352","article-title":"Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development","volume":"13","author":"Perenthaler","year":"2019","journal-title":"Front. Cell. Neurosci."},{"key":"10.1016\/j.ajhg.2020.11.003_bib6","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ng.2219","article-title":"Mutations affecting components of the SWI\/SNF complex cause Coffin-Siris syndrome","volume":"44","author":"Tsurusaki","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib7","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1146\/annurev-genet-110410-132512","article-title":"Genetic and epigenetic networks in intellectual disabilities","volume":"45","author":"van Bokhoven","year":"2011","journal-title":"Annu. Rev. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1460-9568.2009.06787.x","article-title":"Epigenetic dysregulation in cognitive disorders","volume":"30","author":"Gr\u00e4ff","year":"2009","journal-title":"Eur. J. Neurosci."},{"key":"10.1016\/j.ajhg.2020.11.003_bib9","first-page":"61","article-title":"Epigenetics in disease and cancer","volume":"33","author":"Choo","year":"2011","journal-title":"Malays. J. Pathol."},{"key":"10.1016\/j.ajhg.2020.11.003_bib10","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1515\/BC.2009.131","article-title":"The epigenetic bottleneck of neurodegenerative and psychiatric diseases","volume":"390","author":"Sananbenesi","year":"2009","journal-title":"Biol. Chem."},{"key":"10.1016\/j.ajhg.2020.11.003_bib11","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1038\/s41556-018-0258-1","article-title":"Chromatin regulatory mechanisms and therapeutic opportunities in cancer","volume":"21","author":"Valencia","year":"2019","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.ajhg.2020.11.003_bib12","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1146\/annurev.biochem.71.110601.135400","article-title":"ATP-dependent nucleosome remodeling","volume":"71","author":"Becker","year":"2002","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.ajhg.2020.11.003_bib13","doi-asserted-by":"crossref","first-page":"735","DOI":"10.1016\/j.cell.2007.02.009","article-title":"Genome regulation by polycomb and trithorax proteins","volume":"128","author":"Schuettengruber","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2020.11.003_bib14","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1002\/humu.22394","article-title":"Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients","volume":"34","author":"Santen","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2020.11.003_bib15","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1002\/ajmg.a.37722","article-title":"SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases","volume":"170","author":"Zarate","year":"2016","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2020.11.003_bib16","doi-asserted-by":"crossref","first-page":"2160","DOI":"10.1038\/s41436-018-0368-y","article-title":"Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome","volume":"21","author":"van der Sluijs","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2020.11.003_bib17","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1016\/j.ajhg.2018.11.007","article-title":"Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay","volume":"104","author":"Machol","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib18","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1021\/acs.biochem.5b01191","article-title":"PRC2 and SWI\/SNF Chromatin Remodeling Complexes in Health and Disease","volume":"55","author":"Kadoch","year":"2016","journal-title":"Biochemistry"},{"key":"10.1016\/j.ajhg.2020.11.003_bib19","doi-asserted-by":"crossref","first-page":"252","DOI":"10.3389\/fnmol.2018.00252","article-title":"Mutational Landscapes and Phenotypic Spectrum of SWI\/SNF-Related Intellectual Disability Disorders","volume":"11","author":"B\u00f6gershausen","year":"2018","journal-title":"Front. Mol. Neurosci."},{"key":"10.1016\/j.ajhg.2020.11.003_bib20","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1002\/ajmg.a.35415","article-title":"The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases","volume":"158A","author":"Schrier","year":"2012","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2020.11.003_bib21","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1002\/ajmg.a.61075","article-title":"Patient with anomalous skin pigmentation expands the phenotype of ARID2 loss-of-function disorder, a SWI\/SNF-related intellectual disability","volume":"179","author":"Khazanchi","year":"2019","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2020.11.003_bib22","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1016\/j.ajhg.2019.02.001","article-title":"A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI\/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies","volume":"104","author":"Nixon","year":"2019","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib23","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1111\/cge.12225","article-title":"Coffin-Siris syndrome is a SWI\/SNF complex disorder","volume":"85","author":"Tsurusaki","year":"2014","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib24","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1038\/s41586-019-1115-5","article-title":"Mammalian ISWI and SWI\/SNF selectively mediate binding of distinct transcription factors","volume":"569","author":"Barisic","year":"2019","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.11.003_bib25","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/S0168-9525(00)02060-6","article-title":"The Swi\/Snf family nucleosome-remodeling complexes and transcriptional control","volume":"16","author":"Sudarsanam","year":"2000","journal-title":"Trends Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib26","doi-asserted-by":"crossref","first-page":"3077","DOI":"10.1128\/MCB.24.8.3077-3088.2004","article-title":"Differential targeting of two distinct SWI\/SNF-related Drosophila chromatin-remodeling complexes","volume":"24","author":"Mohrmann","year":"2004","journal-title":"Mol. Cell. Biol."},{"key":"10.1016\/j.ajhg.2020.11.003_bib27","doi-asserted-by":"crossref","first-page":"32254","DOI":"10.1074\/jbc.M806061200","article-title":"BRD7, a novel PBAF-specific SWI\/SNF subunit, is required for target gene activation and repression in embryonic stem cells","volume":"283","author":"Kaeser","year":"2008","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2020.11.003_bib28","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/nature08733","article-title":"CHD7 cooperates with PBAF to control multipotent neural crest formation","volume":"463","author":"Bajpai","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.11.003_bib29","doi-asserted-by":"crossref","first-page":"243","DOI":"10.3389\/fnmol.2017.00243","article-title":"Chromatin Remodeling BAF (SWI\/SNF) Complexes in Neural Development and Disorders","volume":"10","author":"Sokpor","year":"2017","journal-title":"Front. Mol. Neurosci."},{"key":"10.1016\/j.ajhg.2020.11.003_bib30","doi-asserted-by":"crossref","first-page":"41038","DOI":"10.1074\/jbc.M205691200","article-title":"REST repression of neuronal genes requires components of the hSWI.SNF complex","volume":"277","author":"Battaglioli","year":"2002","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2020.11.003_bib31","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1038\/s41556-018-0221-1","article-title":"A non-canonical SWI\/SNF complex is a synthetic lethal target in cancers driven by BAF complex perturbation","volume":"20","author":"Michel","year":"2018","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.ajhg.2020.11.003_bib32","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1016\/j.cell.2018.09.032","article-title":"Modular Organization and Assembly of SWI\/SNF Family Chromatin Remodeling Complexes","volume":"175","author":"Mashtalir","year":"2018","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2020.11.003_bib33","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1038\/s41375-018-0281-z","article-title":"Genome-wide association study identifies an acute myeloid leukemia susceptibility locus near BICRA","volume":"33","author":"Walker","year":"2019","journal-title":"Leukemia"},{"key":"10.1016\/j.ajhg.2020.11.003_bib34","doi-asserted-by":"crossref","first-page":"5139","DOI":"10.1038\/s41467-018-07528-9","article-title":"A non-canonical BRD9-containing BAF chromatin remodeling complex regulates naive pluripotency in mouse embryonic stem cells","volume":"9","author":"Gatchalian","year":"2018","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2020.11.003_bib35","doi-asserted-by":"crossref","first-page":"2363","DOI":"10.1002\/cncr.21028","article-title":"Polymorphisms in GLTSCR1 and ERCC2 are associated with the development of oligodendrogliomas","volume":"103","author":"Yang","year":"2005","journal-title":"Cancer"},{"key":"10.1016\/j.ajhg.2020.11.003_bib36","doi-asserted-by":"crossref","first-page":"3892","DOI":"10.1074\/jbc.RA117.001065","article-title":"Glioma tumor suppressor candidate region gene 1 (GLTSCR1) and its paralog GLTSCR1-like form SWI\/SNF chromatin remodeling subcomplexes","volume":"293","author":"Alpsoy","year":"2018","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2020.11.003_bib37","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1007\/s11596-018-1938-6","article-title":"GLTSCR1, ATM, PPP1R13L and CD3EAP Genetic Variants and Lung Cancer Risk in a Chinese Population","volume":"38","author":"Yin","year":"2018","journal-title":"Curr Med Sci"},{"key":"10.1016\/j.ajhg.2020.11.003_bib38","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/j.ajhg.2016.02.015","article-title":"De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions","volume":"98","author":"Mencacci","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib39","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1080\/10520290701333558","article-title":"A two-color acid-free cartilage and bone stain for zebrafish larvae","volume":"82","author":"Walker","year":"2007","journal-title":"Biotech. Histochem."},{"key":"10.1016\/j.ajhg.2020.11.003_bib40","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: a matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"Sobreira","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2020.11.003_bib41","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ajhg.2017.01.006","article-title":"The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease","volume":"100","author":"Ramoni","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib42","article-title":"Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes","author":"Karczewski","year":"2019","journal-title":"bioRxiv"},{"key":"10.1016\/j.ajhg.2020.11.003_bib43","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1016\/j.ajhg.2017.09.001","article-title":"DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders","volume":"101","author":"Quinodoz","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib44","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1186\/1471-2105-12-357","article-title":"An integrative approach to ortholog prediction for disease-focused and other functional studies","volume":"12","author":"Hu","year":"2011","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.ajhg.2020.11.003_bib45","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/j.ajhg.2017.04.010","article-title":"MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome","volume":"100","author":"Wang","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib46","first-page":"59542","article-title":"Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information","author":"Wang","year":"2019","journal-title":"J.\u00a0Vis. Exp."},{"key":"10.1016\/j.ajhg.2020.11.003_bib47","doi-asserted-by":"crossref","first-page":"e85","DOI":"10.1002\/cpbi.85","article-title":"Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity","volume":"67","author":"Wang","year":"2019","journal-title":"Curr. Protoc. Bioinformatics"},{"key":"10.1016\/j.ajhg.2020.11.003_bib48","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s00439-017-1779-6","article-title":"The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies","volume":"136","author":"Stenson","year":"2017","journal-title":"Hum. Genet."},{"issue":"D1","key":"10.1016\/j.ajhg.2020.11.003_bib49","doi-asserted-by":"crossref","first-page":"D886","DOI":"10.1093\/nar\/gky1016","article-title":"CADD: predicting the deleteriousness of variants throughout the human genome","volume":"47","author":"Rentzsch","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.11.003_bib50","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2020.11.003_bib51","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib52","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1038\/ng.3703","article-title":"M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity","volume":"48","author":"Jagadeesh","year":"2016","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib53","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/humu.22932","article-title":"dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs","volume":"37","author":"Liu","year":"2016","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2020.11.003_bib54","doi-asserted-by":"crossref","first-page":"W452-7","DOI":"10.1093\/nar\/gks539","article-title":"SIFT web server: predicting effects of amino\u00a0acid substitutions on proteins","volume":"40","author":"Sim","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2020.11.003_bib55","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.jmb.2005.07.009","article-title":"Drosophila BAP60 is an essential component of the Brahma complex, required for gene activation and repression","volume":"352","author":"M\u00f6ller","year":"2005","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ajhg.2020.11.003_bib56","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1038\/nmeth.1662","article-title":"MiMIC: a highly versatile transposon insertion resource for engineering Drosophila melanogaster genes","volume":"8","author":"Venken","year":"2011","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2020.11.003_bib57","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1038\/ng.2653","article-title":"The Genotype-Tissue Expression (GTEx) project","volume":"45","author":"Lonsdale","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib58","doi-asserted-by":"crossref","first-page":"1260419","DOI":"10.1126\/science.1260419","article-title":"Proteomics. Tissue-based map of the human proteome","volume":"347","author":"Uhl\u00e9n","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2020.11.003_bib59","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1534\/genetics.111.126995","article-title":"The Drosophila gene disruption project: progress using transposons with distinctive site specificities","volume":"188","author":"Bellen","year":"2011","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2020.11.003_bib60","doi-asserted-by":"crossref","first-page":"4","DOI":"10.7554\/eLife.08469","article-title":"A genetic toolkit for tagging intronic MiMIC containing genes","volume":"4","author":"Nagarkar-Jaiswal","year":"2015","journal-title":"eLife"},{"key":"10.1016\/j.ajhg.2020.11.003_bib61","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S0012-1606(02)00011-8","article-title":"SNR1 is an essential subunit in a subset of Drosophila brm complexes, targeting specific functions during development","volume":"253","author":"Zraly","year":"2003","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2020.11.003_bib62","doi-asserted-by":"crossref","first-page":"4582","DOI":"10.1242\/dev.083246","article-title":"The PBAP remodeling complex is required for histone H3.3 replacement at chromatin boundaries and for boundary functions","volume":"139","author":"Nakayama","year":"2012","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2020.11.003_bib63","doi-asserted-by":"crossref","first-page":"a017780","DOI":"10.1101\/cshperspect.a017780","article-title":"Position-effect variegation, heterochromatin formation, and gene silencing in Drosophila","volume":"5","author":"Elgin","year":"2013","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.ajhg.2020.11.003_bib64","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1007\/BF02984195","article-title":"Types of visible variations induced by X-rays in Drosophila","volume":"22","author":"Muller","year":"1930","journal-title":"J.\u00a0Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib65","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/genetics\/164.1.195","article-title":"Telomeric associated sequences of Drosophila recruit polycomb-group proteins in\u00a0vivo and can induce pairing-sensitive repression","volume":"164","author":"Boivin","year":"2003","journal-title":"Genetics"},{"key":"10.1016\/j.ajhg.2020.11.003_bib66","first-page":"1","article-title":"BRD9 defines a SWI\/SNF sub-complex and constitutes a specific vulnerability in malignant rhabdoid tumors","volume":"10","author":"Wang","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2020.11.003_bib67","doi-asserted-by":"crossref","first-page":"1342","DOI":"10.1016\/j.cell.2019.10.044","article-title":"Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI\/SNF Complex Chromatin Remodeling","volume":"179","author":"Valencia","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2020.11.003_bib68","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1038\/gim.2017.50","article-title":"Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders","volume":"19","author":"Tarailo-Graovac","year":"2017","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2020.11.003_bib69","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1038\/ejhg.2014.25","article-title":"Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene","volume":"22","author":"Vals","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2020.11.003_bib70","series-title":"Thisse et\u00a0al.","year":"2001"},{"key":"10.1016\/j.ajhg.2020.11.003_bib71","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1038\/nature14580","article-title":"Genetic compensation induced by deleterious mutations but not gene knockdowns","volume":"524","author":"Rossi","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2020.11.003_bib72","doi-asserted-by":"crossref","first-page":"e0230566","DOI":"10.1371\/journal.pone.0230566","article-title":"Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease","volume":"15","author":"Buglo","year":"2020","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2020.11.003_bib73","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.gde.2009.06.002","article-title":"Early zebrafish development: it\u2019s in the maternal genes","volume":"19","author":"Abrams","year":"2009","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.ajhg.2020.11.003_bib74","doi-asserted-by":"crossref","first-page":"e84858","DOI":"10.1371\/journal.pone.0084858","article-title":"Basal keratinocytes contribute to all strata of the adult zebrafish epidermis","volume":"9","author":"Lee","year":"2014","journal-title":"PLoS ONE"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720304006?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929720304006?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:19:17Z","timestamp":1757575157000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929720304006"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":74,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["S0002929720304006"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2020.11.003","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2020,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"BICRA, a SWI\/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2020.11.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 American Society of Human Genetics.","name":"copyright","label":"Copyright"}]}}