{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T07:01:21Z","timestamp":1792047681738,"version":"4.4.0"},"reference-count":80,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS111029-01A1"],"award-info":[{"award-number":["R01 NS111029-01A1"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R01 NS109358"],"award-info":[{"award-number":["R01 NS109358"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["K12 228168"],"award-info":[{"award-number":["K12 228168"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["K99HL143036"],"award-info":[{"award-number":["K99HL143036"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000009","name":"Foundation for the National Institutes of Health","doi-asserted-by":"publisher","award":["R00HL143036-02"],"award-info":[{"award-number":["R00HL143036-02"]}],"id":[{"id":"10.13039\/100000009","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011765","name":"Rudi Schulte Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100011765","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[2023,3]]},"DOI":"10.1038\/s41591-023-02238-2","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T17:06:02Z","timestamp":1678122362000},"page":"667-678","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts"],"prefix":"10.1038","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6419-7955","authenticated-orcid":false,"given":"Adam J.","family":"Kundishora","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5458-6129","authenticated-orcid":false,"given":"Garrett","family":"Allington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3553-0354","authenticated-orcid":false,"given":"Stephen","family":"McGee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2508-387X","authenticated-orcid":false,"given":"Kedous Y.","family":"Mekbib","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladimir","family":"Gainullin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8926-9692","authenticated-orcid":false,"given":"Andrew T.","family":"Timberlake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0768-4751","authenticated-orcid":false,"given":"Carol","family":"Nelson-Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emre","family":"Kiziltug","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack","family":"Ocken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Shohfi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"August","family":"Allocco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4513-7348","authenticated-orcid":false,"given":"Phan Q.","family":"Duy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aladine A.","family":"Elsamadicy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8376-1758","authenticated-orcid":false,"given":"Weilai","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0248-0119","authenticated-orcid":false,"given":"Shujuan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yung-Chun","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanya M.","family":"Qureshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"DiLuna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shrikant","family":"Mane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina R.","family":"Tikhonova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2536-7290","authenticated-orcid":false,"given":"Po-Ying","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Castaldi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7476-9822","authenticated-orcid":false,"given":"Francesc","family":"L\u00f3pez-Gir\u00e1ldez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1166-0437","authenticated-orcid":false,"given":"James R.","family":"Knight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3313-2563","authenticated-orcid":false,"given":"Charuta G.","family":"Furey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bob S.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2650-2925","authenticated-orcid":false,"given":"Shozeb","family":"Haider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2732-4043","authenticated-orcid":false,"given":"Andres","family":"Moreno-De-Luca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6228-2512","authenticated-orcid":false,"given":"Seth L.","family":"Alper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2290-7055","authenticated-orcid":false,"given":"Murat","family":"Gunel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Millan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard P.","family":"Lifton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca I.","family":"Torene","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheng Chih","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5922-7547","authenticated-orcid":false,"given":"Kristopher T.","family":"Kahle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,3,6]]},"reference":[{"key":"2238_CR1","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.bandc.2009.10.009","volume":"72","author":"T White","year":"2010","unstructured":"White, T., Su, S., Schmidt, M., Kao, C. Y. & Sapiro, G. The development of gyrification in childhood and adolescence. Brain Cogn. 72, 36\u201345 (2010).","journal-title":"Brain Cogn."},{"key":"2238_CR2","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1146\/annurev-pathmechdis-012418-012927","volume":"14","author":"G Juric-Sekhar","year":"2019","unstructured":"Juric-Sekhar, G. & Hevner, R. F. Malformations of cerebral cortex development: molecules and mechanisms. Annu. Rev. Pathol. 14, 293\u2013318 (2019).","journal-title":"Annu. Rev. Pathol."},{"key":"2238_CR3","doi-asserted-by":"publisher","first-page":"597","DOI":"10.1016\/j.cell.2009.10.004","volume":"139","author":"JA Siegenthaler","year":"2009","unstructured":"Siegenthaler, J. A. et al. Retinoic acid from the meninges regulates cortical neuron generation. Cell 139, 597\u2013609 (2009).","journal-title":"Cell"},{"key":"2238_CR4","doi-asserted-by":"publisher","first-page":"1284","DOI":"10.1038\/nn1764","volume":"9","author":"V Borrell","year":"2006","unstructured":"Borrell, V. & Marin, O. Meninges control tangential migration of hem-derived Cajal\u2013Retzius cells via CXCL12\/CXCR4 signaling. Nat. Neurosci. 9, 1284\u20131293 (2006).","journal-title":"Nat. Neurosci."},{"key":"2238_CR5","doi-asserted-by":"publisher","first-page":"222","DOI":"10.3171\/2012.10.JNS12548","volume":"118","author":"WN Al-Holou","year":"2013","unstructured":"Al-Holou, W. N. et al. Prevalence and natural history of arachnoid cysts in adults. J. Neurosurg. 118, 222\u2013231 (2013).","journal-title":"J. Neurosurg."},{"key":"2238_CR6","first-page":"e2458","volume":"10","author":"F Mustansir","year":"2018","unstructured":"Mustansir, F., Bashir, S. & Darbar, A. Management of arachnoid cysts: a comprehensive review. Cureus 10, e2458 (2018).","journal-title":"Cureus"},{"key":"2238_CR7","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1016\/j.ejpn.2014.12.008","volume":"19","author":"B De Keersmaecker","year":"2015","unstructured":"De Keersmaecker, B. et al. Outcome of 12 antenatally diagnosed fetal arachnoid cysts: case series and review of the literature. Eur. J. Paediatr. Neurol. 19, 114\u2013121 (2015).","journal-title":"Eur. J. Paediatr. Neurol."},{"key":"2238_CR8","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1001\/jama.282.1.36","volume":"282","author":"GL Katzman","year":"1999","unstructured":"Katzman, G. L., Dagher, A. P. & Patronas, N. J. Incidental findings on brain magnetic resonance imaging from 1000 asymptomatic volunteers. J. Am. Med. Assoc. 282, 36\u201339 (1999).","journal-title":"J. Am. Med. Assoc."},{"key":"2238_CR9","doi-asserted-by":"publisher","first-page":"e259","DOI":"10.1016\/j.wneu.2018.11.149","volume":"123","author":"MJ Hayes","year":"2019","unstructured":"Hayes, M. J., TerMaath, S. C., Crook, T. R. & Killeffer, J. A. A review on the effectiveness of surgical intervention for symptomatic intracranial arachnoid cysts in adults. World Neurosurg. 123, e259\u2013e272 (2019).","journal-title":"World Neurosurg."},{"key":"2238_CR10","doi-asserted-by":"publisher","first-page":"15","DOI":"10.4103\/sni.sni_320_18","volume":"10","author":"R Jafrani","year":"2019","unstructured":"Jafrani, R., Raskin, J. S., Kaufman, A. & Lam, S. Intracranial arachnoid cysts: pediatric neurosurgery update. Surg. Neurol. Int. 10, 15 (2019).","journal-title":"Surg. Neurol. Int."},{"key":"2238_CR11","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1159\/000028733","volume":"29","author":"JU Choi","year":"1998","unstructured":"Choi, J. U. & Kim, D. S. Pathogenesis of arachnoid cyst: congenital or traumatic? Pediatr. Neurosurg. 29, 260\u2013266 (1998).","journal-title":"Pediatr. Neurosurg."},{"key":"2238_CR12","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1097\/00005072-195807000-00009","volume":"17","author":"SP Starkman","year":"1958","unstructured":"Starkman, S. P., Brown, T. C. & Linell, E. A. Cerebral arachnoid cysts. J. Neuropathol. Exp. Neurol. 17, 484\u2013500 (1958).","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"2238_CR13","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1016\/j.braindev.2006.02.006","volume":"28","author":"M Zeegers","year":"2006","unstructured":"Zeegers, M. et al. Radiological findings in autistic and developmentally delayed children. Brain Dev. 28, 495\u2013499 (2006).","journal-title":"Brain Dev."},{"key":"2238_CR14","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/j.clineuro.2017.05.014","volume":"159","author":"I Nikolic","year":"2017","unstructured":"Nikolic, I. et al. The association of arachnoid cysts and focal epilepsy: hospital based case control study. Clin. Neurol. Neurosurg. 159, 39\u201341 (2017).","journal-title":"Clin. Neurol. Neurosurg."},{"key":"2238_CR15","doi-asserted-by":"publisher","first-page":"578","DOI":"10.3171\/2010.2.PEDS09464","volume":"5","author":"WN Al-Holou","year":"2010","unstructured":"Al-Holou, W. N. et al. Prevalence and natural history of arachnoid cysts in children. J. Neurosurg. Pediatr. 5, 578\u2013585 (2010).","journal-title":"J. Neurosurg. Pediatr."},{"key":"2238_CR16","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1097\/00004728-198703000-00007","volume":"11","author":"SN Wiener","year":"1987","unstructured":"Wiener, S. N., Pearlstein, A. E. & Eiber, A. MR imaging of intracranial arachnoid cysts. J. Comput. Assist. Tomogr. 11, 236\u2013241 (1987).","journal-title":"J. Comput. Assist. Tomogr."},{"key":"2238_CR17","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1016\/S0887-8994(01)00329-0","volume":"26","author":"JA Gosalakkal","year":"2002","unstructured":"Gosalakkal, J. A. Intracranial arachnoid cysts in children: a review of pathogenesis, clinical features, and management. Pediatr. Neurol. 26, 93\u201398 (2002).","journal-title":"Pediatr. Neurol."},{"key":"2238_CR18","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.clineuro.2018.12.018","volume":"177","author":"S Hall","year":"2019","unstructured":"Hall, S. et al. Clinical and radiological outcomes following surgical treatment for intra-cranial arachnoid cysts. Clin. Neurol. Neurosurg. 177, 42\u201346 (2019).","journal-title":"Clin. Neurol. Neurosurg."},{"key":"2238_CR19","first-page":"93","volume":"56","author":"JM Cilluffo","year":"1981","unstructured":"Cilluffo, J. M., Gomez, M. R., Reese, D. F., Onofrio, B. M. & Miller, R. H. Idiopathic (\u201ccongenital\u201d) spinal arachnoid diverticula. Clinical diagnosis and surgical results. Mayo Clin. Proc. 56, 93\u2013101 (1981).","journal-title":"Mayo Clin. Proc."},{"key":"2238_CR20","doi-asserted-by":"publisher","first-page":"5","DOI":"10.3174\/ajnr.A2832","volume":"34","author":"DI Zafeiriou","year":"2013","unstructured":"Zafeiriou, D. I. & Batzios, S. P. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. AJNR Am. J. Neuroradiol. 34, 5\u201313 (2013).","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"2238_CR21","first-page":"bhac257","volume":"18","author":"HM Qureshi","year":"2022","unstructured":"Qureshi, H. M. et al. Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis. Cereb. Cortex 18, bhac257 (2022).","journal-title":"Cereb. Cortex"},{"key":"2238_CR22","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1016\/j.neuron.2018.06.019","volume":"99","author":"CG Furey","year":"2018","unstructured":"Furey, C. G. et al. De novo mutation in genes regulating neural stem cell fate in human congenital hydrocephalus. Neuron 99, 302\u2013314.e4 (2018).","journal-title":"Neuron"},{"key":"2238_CR23","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1038\/s41591-020-1090-2","volume":"26","author":"SC Jin","year":"2020","unstructured":"Jin, S. C. et al. Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus. Nat. Med. 26, 1754\u20131765 (2020).","journal-title":"Nat. Med."},{"key":"2238_CR24","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/nature09327","volume":"467","author":"K Bilg\u00fcvar","year":"2010","unstructured":"Bilg\u00fcvar, K. et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467, 207\u2013210 (2010).","journal-title":"Nature"},{"key":"2238_CR25","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1038\/ng.836","volume":"43","author":"T Barak","year":"2011","unstructured":"Barak, T. et al. Recessive LAMC3 mutations cause malformations of occipital cortical development. Nat. Genet. 43, 590\u2013594 (2011).","journal-title":"Nat. Genet."},{"key":"2238_CR26","doi-asserted-by":"publisher","first-page":"1226","DOI":"10.1016\/j.neuron.2014.12.014","volume":"84","author":"K Mishra-Gorur","year":"2014","unstructured":"Mishra-Gorur, K. et al. Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors. Neuron 84, 1226\u20131239 (2014).","journal-title":"Neuron"},{"key":"2238_CR27","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1001\/jamaneurol.2021.1681","volume":"78","author":"AJ Kundishora","year":"2021","unstructured":"Kundishora, A. J. et al. DIAPH1 variants in non-East Asian patients with sporadic moyamoya disease. JAMA Neurol. 78, 993\u20131003 (2021).","journal-title":"JAMA Neurol."},{"key":"2238_CR28","doi-asserted-by":"publisher","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","volume":"367","author":"J De Ligt","year":"2012","unstructured":"De Ligt, J. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921\u20131929 (2012).","journal-title":"N. Engl. J. Med."},{"key":"2238_CR29","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1038\/nature11011","volume":"485","author":"BM Neale","year":"2012","unstructured":"Neale, B. M. et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature 485, 242\u2013245 (2012).","journal-title":"Nature"},{"key":"2238_CR30","doi-asserted-by":"publisher","first-page":"e20125","DOI":"10.7554\/eLife.20125","volume":"5","author":"AT Timberlake","year":"2016","unstructured":"Timberlake, A. T. et al. Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. eLife 5, e20125 (2016).","journal-title":"eLife"},{"key":"2238_CR31","doi-asserted-by":"publisher","first-page":"582","DOI":"10.1038\/ng.3303","volume":"47","author":"N Krumm","year":"2015","unstructured":"Krumm, N. et al. Excess of rare, inherited truncating mutations in autism. Nat. Genet. 47, 582\u2013588 (2015).","journal-title":"Nat. Genet."},{"key":"2238_CR32","doi-asserted-by":"publisher","first-page":"4699","DOI":"10.1182\/blood-2008-01-137018","volume":"112","author":"C Shi","year":"2008","unstructured":"Shi, C. et al. Down-regulation of the forkhead transcription factor Foxp1 is required for monocyte differentiation and macrophage function. Blood 112, 4699\u20134711 (2008).","journal-title":"Blood"},{"key":"2238_CR33","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1016\/j.neuron.2012.08.031","volume":"75","author":"X Li","year":"2012","unstructured":"Li, X. et al. MEK is a key regulator of gliogenesis in the developing brain. Neuron 75, 1035\u20131050 (2012).","journal-title":"Neuron"},{"key":"2238_CR34","doi-asserted-by":"publisher","first-page":"3007","DOI":"10.1182\/blood-2014-05-577825","volume":"124","author":"R Chakraborty","year":"2014","unstructured":"Chakraborty, R. et al. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood 124, 3007\u20133015 (2014).","journal-title":"Blood"},{"key":"2238_CR35","doi-asserted-by":"publisher","first-page":"dmm031278","DOI":"10.1242\/dmm.031278","volume":"11","author":"R Aoidi","year":"2018","unstructured":"Aoidi, R. et al. Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome. Dis. Model Mech. 11, dmm031278 (2018).","journal-title":"Dis. Model Mech."},{"key":"2238_CR36","doi-asserted-by":"publisher","first-page":"8879","DOI":"10.1128\/MCB.20.23.8879-8888.2000","volume":"20","author":"Z Nie","year":"2000","unstructured":"Nie, Z. et al. A specificity and targeting subunit of a human SWI\/SNF family-related chromatin-remodeling complex. Mol. Cell. Biol. 20, 8879\u20138888 (2000).","journal-title":"Mol. Cell. Biol."},{"key":"2238_CR37","doi-asserted-by":"publisher","first-page":"371","DOI":"10.1016\/j.chembiol.2017.02.006","volume":"24","author":"A Tumber","year":"2017","unstructured":"Tumber, A. et al. Potent and selective KDM5 inhibitor stops cellular demethylation of H3K4me3 at transcription start sites and proliferation of MM1S myeloma cells. Cell Chem. Biol. 24, 371\u2013380 (2017).","journal-title":"Cell Chem. Biol."},{"key":"2238_CR38","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1126\/science.1087447","volume":"302","author":"JM Stuart","year":"2003","unstructured":"Stuart, J. M., Segal, E., Koller, D. & Kim, S. K. A gene-coexpression network for global discovery of conserved genetic modules. Science 302, 249\u2013255 (2003).","journal-title":"Science"},{"key":"2238_CR39","doi-asserted-by":"publisher","first-page":"5372","DOI":"10.3390\/ijms20215372","volume":"20","author":"M Castro Dias","year":"2019","unstructured":"Castro Dias, M., Mapunda, J. A., Vladymyrov, M. & Engelhardt, B. Structure and junctional complexes of endothelial, epithelial and glial brain barriers. Int. J. Mol. Sci. 20, 5372 (2019).","journal-title":"Int. J. Mol. Sci."},{"key":"2238_CR40","doi-asserted-by":"publisher","first-page":"D833","DOI":"10.1093\/nar\/gkw943","volume":"45","author":"J Pinero","year":"2017","unstructured":"Pinero, J. et al. DisGeNET: a comprehensive platform integrating information on human disease-associated genes and variants. Nucleic Acids Res. 45, D833\u2013D839 (2017).","journal-title":"Nucleic Acids Res."},{"key":"2238_CR41","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1016\/j.pediatrneurol.2005.02.008","volume":"33","author":"G Arriola","year":"2005","unstructured":"Arriola, G., de Castro, P. & Verdu, A. Familial arachnoid cysts. Pediatr. Neurol. 33, 146\u2013148 (2005).","journal-title":"Pediatr. Neurol."},{"key":"2238_CR42","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.neucir.2021.03.003","volume":"33","author":"JO Martinez","year":"2021","unstructured":"Martinez, J. O. et al. Intracranial arachnoid cysts and epilepsy in children: should this be treated surgically? Our 29-year experience and review of the literature. Neurocirug\u00eda 33, 157\u2013164 (2021).","journal-title":"Neurocirug\u00eda"},{"key":"2238_CR43","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.tcb.2021.09.001","volume":"32","author":"AM Valencia","year":"2022","unstructured":"Valencia, A. M. & Pasca, S. P. Chromatin dynamics in human brain development and disease. Trends Cell Biol. 32, 98\u2013101 (2022).","journal-title":"Trends Cell Biol."},{"key":"2238_CR44","doi-asserted-by":"publisher","first-page":"243","DOI":"10.3389\/fnmol.2017.00243","volume":"10","author":"G Sokpor","year":"2017","unstructured":"Sokpor, G., Xie, Y., Rosenbusch, J. & Tuoc, T. Chromatin remodeling BAF (SWI\/SNF) complexes in neural development and disorders. Front. Mol. Neurosci. 10, 243 (2017).","journal-title":"Front. Mol. Neurosci."},{"key":"2238_CR45","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1016\/j.ydbio.2009.08.017","volume":"339","author":"JC Eissenberg","year":"2010","unstructured":"Eissenberg, J. C. & Shilatifard, A. Histone H3 lysine 4 (H3K4) methylation in development and differentiation. Dev. Biol. 339, 240\u2013249 (2010).","journal-title":"Dev. Biol."},{"key":"2238_CR46","doi-asserted-by":"publisher","first-page":"D993","DOI":"10.1093\/nar\/gkt937","volume":"42","author":"E Bragin","year":"2014","unstructured":"Bragin, E. et al. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation. Nucleic Acids Res. 42, D993\u2013D1000 (2014).","journal-title":"Nucleic Acids Res."},{"key":"2238_CR47","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/nature13772","volume":"515","author":"S De Rubeis","year":"2014","unstructured":"De Rubeis, S. et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209\u2013215 (2014).","journal-title":"Nature"},{"key":"2238_CR48","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1038\/nature12141","volume":"498","author":"S Zaidi","year":"2013","unstructured":"Zaidi, S. et al. De novo mutations in histone-modifying genes in congenital heart disease. Nature 498, 220\u2013223 (2013).","journal-title":"Nature"},{"key":"2238_CR49","doi-asserted-by":"publisher","first-page":"e1500447","DOI":"10.1126\/sciadv.1500447","volume":"1","author":"C Kadoch","year":"2015","unstructured":"Kadoch, C. & Crabtree, G. R. Mammalian SWI\/SNF chromatin remodeling complexes and cancer: mechanistic insights gained from human genomics. Sci. Adv. 1, e1500447 (2015).","journal-title":"Sci. Adv."},{"key":"2238_CR50","doi-asserted-by":"publisher","first-page":"385","DOI":"10.3389\/fncel.2019.00385","volume":"13","author":"L Rylaarsdam","year":"2019","unstructured":"Rylaarsdam, L. & Guemez-Gamboa, A. Genetic causes and modifiers of autism spectrum disorder. Front. Cell Neurosci. 13, 385 (2019).","journal-title":"Front. Cell Neurosci."},{"key":"2238_CR51","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1016\/B978-0-12-800180-6.00005-0","volume":"310","author":"Z Jahed","year":"2014","unstructured":"Jahed, Z., Shams, H., Mehrbod, M. & Mofrad, M. R. Mechanotransduction pathways linking the extracellular matrix to the nucleus. Int. Rev. Cell Mol. Biol. 310, 171\u2013220 (2014).","journal-title":"Int. Rev. Cell Mol. Biol."},{"key":"2238_CR52","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1097\/00005072-198101000-00007","volume":"40","author":"SS Rengachary","year":"1981","unstructured":"Rengachary, S. S. & Watanabe, I. Ultrastructure and pathogenesis of intracranial arachnoid cysts. J. Neuropathol. Exp. Neurol. 40, 61\u201383 (1981).","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"2238_CR53","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1038\/s41586-019-1654-9","volume":"574","author":"S Kanton","year":"2019","unstructured":"Kanton, S. et al. Organoid single-cell genomic atlas uncovers human-specific features of brain development. Nature 574, 418\u2013422 (2019).","journal-title":"Nature"},{"key":"2238_CR54","doi-asserted-by":"publisher","first-page":"1257","DOI":"10.1007\/s00381-016-3064-8","volume":"32","author":"K Rabiei","year":"2016","unstructured":"Rabiei, K., Hogfeldt, M. J., Doria-Medina, R. & Tisell, M. Surgery for intracranial arachnoid cysts in children\u2014a prospective long-term study. Childs Nerv. Syst. 32, 1257\u20131263 (2016).","journal-title":"Childs Nerv. Syst."},{"key":"2238_CR55","doi-asserted-by":"publisher","first-page":"593","DOI":"10.1007\/s00381-008-0585-9","volume":"24","author":"G Tamburrini","year":"2008","unstructured":"Tamburrini, G., Dal Fabbro, M., & Di Rocco, C. Sylvian fissure arachnoid cysts: a survey on their diagnostic workout and practical management. Childs Nerv. Syst. 24, 593\u2013604 (2008).","journal-title":"Childs Nerv. Syst."},{"key":"2238_CR56","doi-asserted-by":"publisher","first-page":"102","DOI":"10.3171\/2020.10.PEDS20839","volume":"28","author":"M Schulz","year":"2021","unstructured":"Schulz, M. et al. Surgical management of intracranial arachnoid cysts in pediatric patients: radiological and clinical outcome. J. Neurosurg. Pediatr. 28, 102\u2013112 (2021).","journal-title":"J. Neurosurg. Pediatr."},{"key":"2238_CR57","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/j.ajhg.2020.12.001","volume":"108","author":"B Sadler","year":"2021","unstructured":"Sadler, B. et al. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am. J. Hum. Genet. 108, 100\u2013114 (2021).","journal-title":"Am. J. Hum. Genet."},{"key":"2238_CR58","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.neuron.2018.11.041","volume":"101","author":"D Duran","year":"2019","unstructured":"Duran, D. et al. Mutations in chromatin modifier and ephrin signaling genes in vein of galen malformation. Neuron 101, 429\u2013443.e4 (2019).","journal-title":"Neuron"},{"key":"2238_CR59","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1097\/PRS.0000000000008976","volume":"149","author":"AT Timberlake","year":"2022","unstructured":"Timberlake, A. T. et al. Genetic influence on neurodevelopment in nonsyndromic craniosynostosis. Plast. Reconstr. Surg. 149, 1157\u20131165 (2022).","journal-title":"Plast. Reconstr. Surg."},{"key":"2238_CR60","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1038\/gim.2015.148","volume":"18","author":"K Retterer","year":"2016","unstructured":"Retterer, K. et al. Clinical application of whole-exome sequencing across clinical indications. Genet. Med. 18, 696\u2013704 (2016).","journal-title":"Genet. Med."},{"key":"2238_CR61","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna, A. et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297\u20131303 (2010).","journal-title":"Genome Res."},{"key":"2238_CR62","doi-asserted-by":"publisher","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434\u2013443 (2020).","journal-title":"Nature"},{"key":"2238_CR63","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1038\/s41586-021-03205-y","volume":"590","author":"D Taliun","year":"2021","unstructured":"Taliun, D. et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed program. Nature 590, 290\u2013299 (2021).","journal-title":"Nature"},{"key":"2238_CR64","doi-asserted-by":"publisher","first-page":"830","DOI":"10.1101\/gr.115907.110","volume":"21","author":"RE Mills","year":"2011","unstructured":"Mills, R. E. et al. Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res. 21, 830\u2013839 (2011).","journal-title":"Genome Res."},{"key":"2238_CR65","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1038\/s41586-020-2832-5","volume":"586","author":"J Kaplanis","year":"2020","unstructured":"Kaplanis, J. et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757\u2013762 (2020).","journal-title":"Nature"},{"key":"2238_CR66","first-page":"7.25.1","volume":"87","author":"JS Ware","year":"2015","unstructured":"Ware, J. S., Samocha, K. E., Homsy, J. & Daly, M. J. Interpreting de novo variation in human disease using denovolyzeR. Curr. Protoc. Hum. Genet. 87, 7.25.1\u20137.25.15 (2015).","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"2238_CR67","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell, S. et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559\u2013575 (2007).","journal-title":"Am. J. Hum. Genet."},{"key":"2238_CR68","doi-asserted-by":"publisher","first-page":"832","DOI":"10.1038\/nature09410","volume":"467","author":"H Lango Allen","year":"2010","unstructured":"Lango Allen, H. et al. Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 467, 832\u2013838 (2010).","journal-title":"Nature"},{"key":"2238_CR69","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1038\/s41588-019-0344-8","volume":"51","author":"J Grove","year":"2019","unstructured":"Grove, J. et al. Identification of common genetic risk variants for autism spectrum disorder. Nat. Genet. 51, 431\u2013444 (2019).","journal-title":"Nat. Genet."},{"key":"2238_CR70","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1038\/ng.3970","volume":"49","author":"SC Jin","year":"2017","unstructured":"Jin, S. C. et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat. Genet. 49, 1593\u20131601 (2017).","journal-title":"Nat. Genet."},{"key":"2238_CR71","doi-asserted-by":"publisher","first-page":"D1029","DOI":"10.1093\/nar\/gkaa762","volume":"49","author":"L Song","year":"2021","unstructured":"Song, L. et al. STAB: a spatio-temporal cell atlas of the human brain. Nucleic Acids Res. 49, D1029\u2013D1037 (2021).","journal-title":"Nucleic Acids Res."},{"key":"2238_CR72","doi-asserted-by":"publisher","first-page":"eaat8077","DOI":"10.1126\/science.aat8077","volume":"362","author":"Y Zhu","year":"2018","unstructured":"Zhu, Y. et al. Spatiotemporal transcriptomic divergence across human and macaque brain development. Science 362, eaat8077 (2018).","journal-title":"Science"},{"key":"2238_CR73","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1186\/1471-2105-9-559","volume":"9","author":"P Langfelder","year":"2008","unstructured":"Langfelder, P. & Horvath, S. WGCNA: an R package for weighted correlation network analysis. BMC Bioinformatics 9, 559 (2008).","journal-title":"BMC Bioinformatics"},{"key":"2238_CR74","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1016\/j.cell.2019.09.021","volume":"179","author":"RL Walker","year":"2019","unstructured":"Walker, R. L. et al. Genetic control of expression and splicing in developing human brain informs disease mechanisms. Cell 179, 750\u2013771.e22 (2019).","journal-title":"Cell"},{"key":"2238_CR75","doi-asserted-by":"publisher","first-page":"W90","DOI":"10.1093\/nar\/gkw377","volume":"44","author":"MV Kuleshov","year":"2016","unstructured":"Kuleshov, M. V. et al. Enrichr: a comprehensive gene set enrichment analysis web server 2016 update. Nucleic Acids Res. 44, W90\u2013W97 (2016).","journal-title":"Nucleic Acids Res."},{"key":"2238_CR76","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1186\/1471-2105-10-48","volume":"10","author":"E Eden","year":"2009","unstructured":"Eden, E., Navon, R., Steinfeld, I., Lipson, D. & Yakhini, Z. GOrilla: a tool for discovery and visualization of enriched GO terms in ranked gene lists. BMC Bioinformatics 10, 48 (2009).","journal-title":"BMC Bioinformatics"},{"key":"2238_CR77","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1093\/bioinformatics\/btt703","volume":"30","author":"A Kramer","year":"2014","unstructured":"Kramer, A., Green, J., Pollard, J. Jr. & Tugendreich, S. Causal analysis approaches in Ingenuity Pathway Analysis. Bioinformatics 30, 523\u2013530 (2014).","journal-title":"Bioinformatics"},{"key":"2238_CR78","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/j.devcel.2020.06.009","volume":"54","author":"J DeSisto","year":"2020","unstructured":"DeSisto, J. et al. Single-cell transcriptomic analyses of the developing meninges reveal meningeal fibroblast diversity and function. Dev. Cell 54, 43\u201359.e4 (2020).","journal-title":"Dev. Cell"},{"key":"2238_CR79","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1038\/s41586-019-0969-x","volume":"566","author":"J Cao","year":"2019","unstructured":"Cao, J. et al. The single-cell transcriptional landscape of mammalian organogenesis. Nature 566, 496\u2013502 (2019).","journal-title":"Nature"},{"key":"2238_CR80","doi-asserted-by":"crossref","unstructured":"Campello, R. J. G. B., Moulavi, D. & Sander, J. in Advances in Knowledge Discovery and Data Mining (eds. Pei, J. et al.) 160\u2013172 (Springer Berlin Heidelberg, 2013).","DOI":"10.1007\/978-3-642-37456-2_14"}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41591-023-02238-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41591-023-02238-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41591-023-02238-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,22]],"date-time":"2023-03-22T14:17:40Z","timestamp":1679494660000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41591-023-02238-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3]]},"references-count":80,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["2238"],"URL":"https:\/\/doi.org\/10.1038\/s41591-023-02238-2","relation":{},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3]]},"assertion":[{"value":"25 May 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 January 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 March 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}