{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,9]],"date-time":"2026-11-09T06:27:19Z","timestamp":1794205639938,"version":"4.8.0"},"reference-count":115,"publisher":"Elsevier BV","issue":"8","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2027,2,6]],"date-time":"2027-02-06T00:00:00Z","timestamp":1801872000000},"content-version":"am","delay-in-days":189,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009633","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005294","name":"Massachusetts General Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005294","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Swiss National Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006823","name":"Boston Children's Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006545","name":"NIMHD","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006545","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003187","name":"NSF","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100003187","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":[[2026,8]]},"DOI":"10.1016\/j.ajhg.2026.06.012","type":"journal-article","created":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T15:02:52Z","timestamp":1783695772000},"page":"1691-1718","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder"],"prefix":"10.1016","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9528-252X","authenticated-orcid":false,"given":"Philip M.","family":"Boone","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serkan","family":"Erdin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abucar","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sadegheh","family":"Haghshenas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamli N.W.","family":"Faour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emeline","family":"Kao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack","family":"Fu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Auwerx","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Harripaul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bimal","family":"Jana","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Springer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grey","family":"Hallstrom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine E.F.","family":"de Esch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica","family":"Denhoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Holmes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiana","family":"Mohajeri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Lemanski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Kerkhof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haley","family":"McConkey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Rzasa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madison J.","family":"McCune","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Levy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Grafstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Larson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zsabre","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta L.","family":"Beauchamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Lucente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami Abou","family":"Jamra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neena","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erica F.","family":"Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Argilli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee","family":"Araiza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"Ballal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Megan F.","family":"Baxter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaber","family":"Bergant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid","family":"Bertsche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riya","family":"Bhavsar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora R.","family":"Bortola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viktoria","family":"Bothe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Brasch-Andersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Braun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ange-Line","family":"Bruel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Buchanan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas D.","family":"Burt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura M.L.","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Chiriatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Crunk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Currall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andree","family":"Delahaye-Duriez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Delanne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Sophie","family":"Denomm\u00e9-Pichon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aloysius","family":"Domingo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Duncan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Famularo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Fulton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Casie A.","family":"Genetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamar","family":"Harel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marketa","family":"Havlovicova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny","family":"Higgs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Houlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"LaDonna","family":"Immken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank J.","family":"Kaiser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaycee","family":"Karbone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret","family":"Kenna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amjad","family":"Khan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara Kristina","family":"Kimmig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva-Maria","family":"Kraus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana C.V.","family":"Krepischi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilona","family":"Krey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger L.","family":"Ladda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Lanoue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cedric","family":"Le Caignec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoe K.","family":"Lewis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Milan","family":"Macek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Maier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Maitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Male","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcela","family":"Malikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"McKay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oana","family":"Moldovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Monteil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana Moys\u00e9s","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeeva","family":"Munasinghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachiko","family":"Nakamori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Neuser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathilde","family":"Nizon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xander","family":"Nuttle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"O\u2019Keefe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Orec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilaria","family":"Parenti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Pouncey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Clementina","family":"Radio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leema","family":"Robert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lance","family":"Rodan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hallel","family":"Rosenberg-Fogler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Safraou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Salani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Schliesske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor G.","family":"Seaby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan L.","family":"Sell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Eliot","family":"Shearer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elliott","family":"Sherr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelle","family":"Shillington","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothea","family":"Siebold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margje","family":"Sinnema","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander P.A.","family":"Stegmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathy A.","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Servi J.C.","family":"Stevens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Surette","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny C.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle L.","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pernille M.","family":"T\u00f8rring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Tran Mau Them","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Tsoulaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Els","family":"Vanhoutte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Vincent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydia","family":"von Wintzingerode","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Watt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marketa","family":"Wayhelova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid M.","family":"Wentzensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica H.","family":"Wojcik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siddharth","family":"Srivastava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominik S.","family":"Westphal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Korbinian M.","family":"Riedhammer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Joyce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachita","family":"Yadav","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek J.C.","family":"Tai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bekim","family":"Sadikovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl E.","family":"Pfeifer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Talkowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2026.06.012_bib1","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.bbagrm.2013.11.002","article-title":"Mechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathies","volume":"1839","author":"Ball","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ajhg.2026.06.012_bib2","doi-asserted-by":"crossref","DOI":"10.1002\/mco2.326","article-title":"Three-dimensional genome structure and function","volume":"4","author":"Liu","year":"2023","journal-title":"MedComm"},{"key":"10.1016\/j.ajhg.2026.06.012_bib3","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/s41576-022-00526-0","article-title":"The spatial organization of transcriptional control","volume":"24","author":"Hafner","year":"2023","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib4","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1038\/s41576-018-0060-8","article-title":"Organizational principles of 3D genome architecture","volume":"19","author":"Rowley","year":"2018","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib5","doi-asserted-by":"crossref","first-page":"E6456","DOI":"10.1073\/pnas.1518552112","article-title":"Chromatin extrusion explains key features of loop and domain formation in wild-type and engineered genomes","volume":"112","author":"Sanborn","year":"2015","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.06.012_bib6","doi-asserted-by":"crossref","first-page":"3500","DOI":"10.1016\/j.celrep.2019.05.078","article-title":"Specific Contributions of Cohesin-SA1 and Cohesin-SA2 to TADs and Polycomb Domains in Embryonic Stem Cells","volume":"27","author":"Cuadrado","year":"2019","journal-title":"Cell Rep."},{"key":"10.1016\/j.ajhg.2026.06.012_bib7","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1016\/j.cell.2013.07.034","article-title":"Transcription factor binding in human cells occurs in dense clusters formed around cohesin anchor sites","volume":"154","author":"Yan","year":"2013","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.1000119","article-title":"Transcriptional dysregulation in NIPBL and cohesin mutant human cells","volume":"7","author":"Liu","year":"2009","journal-title":"PLoS Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib9","doi-asserted-by":"crossref","first-page":"2919","DOI":"10.1038\/s41467-021-23141-9","article-title":"Neuronal genes deregulated in Cornelia de Lange Syndrome respond to removal and re-expression of cohesin","volume":"12","author":"Weiss","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.06.012_bib10","doi-asserted-by":"crossref","first-page":"4551","DOI":"10.1038\/s41467-021-24808-z","article-title":"Disruption of NIPBL\/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome","volume":"12","author":"Garcia","year":"2021","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.06.012_bib11","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1016\/j.cub.2025.01.044","article-title":"A common molecular mechanism underlying Cornelia de Lange and CHOPS syndromes","volume":"35","author":"Sakata","year":"2025","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib12","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/S1097-2765(00)80420-7","article-title":"Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins","volume":"5","author":"Ciosk","year":"2000","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib13","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1038\/nature06634","article-title":"Cohesin mediates transcriptional insulation by CCCTC-binding factor","volume":"451","author":"Wendt","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib14","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.1126\/science.aaz3418","article-title":"DNA loop extrusion by human cohesin","volume":"366","author":"Davidson","year":"2019","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.06.012_bib15","article-title":"PDS5A and PDS5B in Cohesin Function and Human Disease","volume":"22","author":"Zhang","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.ajhg.2026.06.012_bib21","doi-asserted-by":"crossref","DOI":"10.1083\/jcb.201906100","article-title":"Wapl releases Scc1-cohesin and regulates chromosome structure and segregation in mouse oocytes","volume":"219","author":"Silva","year":"2020","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib22","doi-asserted-by":"crossref","first-page":"2406","DOI":"10.1016\/j.cub.2006.10.061","article-title":"Human Wapl is a cohesin-binding protein that promotes sister-chromatid resolution in mitotic prophase","volume":"16","author":"Gandhi","year":"2006","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib23","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1016\/j.cell.2006.09.040","article-title":"Wapl controls the dynamic association of cohesin with chromatin","volume":"127","author":"Kueng","year":"2006","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib24","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1038\/nature12471","article-title":"Wapl is an essential regulator of chromatin structure and chromosome segregation","volume":"501","author":"Tedeschi","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib25","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1016\/j.cell.2012.07.028","article-title":"Cohesin's DNA exit gate is distinct from its entrance gate and is regulated by acetylation","volume":"150","author":"Chan","year":"2012","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib26","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1126\/science.1256904","article-title":"Characterization of a DNA exit gate in the human cohesin ring","volume":"346","author":"Huis in 't Veld","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.06.012_bib27","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1126\/science.abn6583","article-title":"Dynamics of CTCF- and cohesin-mediated chromatin looping revealed by live-cell imaging","volume":"376","author":"Gabriele","year":"2022","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.06.012_bib28","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1038\/s41588-022-01232-7","article-title":"Cohesin and CTCF control the dynamics of chromosome folding","volume":"54","author":"Mach","year":"2022","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib16","doi-asserted-by":"crossref","first-page":"3041","DOI":"10.1016\/j.cell.2022.06.036","article-title":"A cross-disorder dosage sensitivity map of the human genome","volume":"185","author":"Collins","year":"2022","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib17","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib18","doi-asserted-by":"crossref","first-page":"1947","DOI":"10.1038\/s41592-024-02409-0","article-title":"Genomics 2 Proteins portal: a resource and discovery tool for linking genetic screening outputs to protein sequences and structures","volume":"21","author":"Kwon","year":"2024","journal-title":"Nat. Methods"},{"key":"10.1016\/j.ajhg.2026.06.012_bib19","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1038\/s41588-023-01465-0","article-title":"Genome-wide prediction of disease variant effects with a deep protein language model","volume":"55","author":"Brandes","year":"2023","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib20","doi-asserted-by":"crossref","first-page":"11355","DOI":"10.1073\/pnas.1304594110","article-title":"Structure of the human cohesin inhibitor Wapl","volume":"110","author":"Ouyang","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.06.012_bib29","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1136\/jmg.2008.062471","article-title":"Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange","volume":"46","author":"Yan","year":"2009","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib30","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1038\/s41436-018-0085-6","article-title":"Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies","volume":"21","author":"Yuan","year":"2019","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.06.012_bib31","doi-asserted-by":"crossref","first-page":"1765","DOI":"10.1073\/pnas.0906222107","article-title":"Evolution in health and medicine Sackler colloquium: Genomic disorders: a window into human gene and genome evolution","volume":"107","author":"Carvalho","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.06.012_bib32","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.2026.06.012_bib33","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1002\/humu.22858","article-title":"The Matchmaker Exchange: a platform for rare disease gene discovery","volume":"36","author":"Philippakis","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2026.06.012_bib34","article-title":"The landscape of regional missense mutational intolerance quantified from 730,947 exomes","author":"Wang","year":"2026","journal-title":"bioRxiv"},{"key":"10.1016\/j.ajhg.2026.06.012_bib35","doi-asserted-by":"crossref","first-page":"1104","DOI":"10.1093\/bioinformatics\/btw763","article-title":"ontologyX: a suite of R packages for working with ontological data","volume":"33","author":"Greene","year":"2017","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.012_bib36","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1016\/j.ajhg.2020.01.019","article-title":"Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders","volume":"106","author":"Aref-Eshghi","year":"2020","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib37","article-title":"SeSAMe: reducing artifactual detection of DNA methylation by Infinium BeadChips in genomic deletions","volume":"46","author":"Zhou","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.06.012_bib38","doi-asserted-by":"crossref","first-page":"203","DOI":"10.4161\/epi.23470","article-title":"Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray","volume":"8","author":"Chen","year":"2013","journal-title":"Epigenetics"},{"key":"10.1016\/j.ajhg.2026.06.012_bib39","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101075","article-title":"Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases","volume":"26","author":"Kerkhof","year":"2024","journal-title":"Genet. Med."},{"key":"10.1016\/j.ajhg.2026.06.012_bib40","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1093\/pan\/mpl013","article-title":"Matching as Nonparametric Preprocessing for Reducing Model Dependence in Parametric Causal Inference","volume":"15","author":"Ho","year":"2007","journal-title":"Polit. anal."},{"key":"10.1016\/j.ajhg.2026.06.012_bib41","doi-asserted-by":"crossref","first-page":"e47","DOI":"10.1093\/nar\/gkv007","article-title":"limma powers differential expression analyses for RNA-sequencing and microarray studies","volume":"43","author":"Ritchie","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.06.012_bib42","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1186\/1471-2105-13-86","article-title":"DNA methylation arrays as surrogate measures of cell mixture distribution","volume":"13","author":"Houseman","year":"2012","journal-title":"BMC Bioinf."},{"key":"10.1016\/j.ajhg.2026.06.012_bib43","article-title":"Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders","volume":"3","author":"Levy","year":"2022","journal-title":"HGG Adv."},{"key":"10.1016\/j.ajhg.2026.06.012_bib44","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/s41586-020-2832-5","article-title":"Evidence for 28 genetic disorders discovered by combining healthcare and research data","volume":"586","author":"Kaplanis","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib45","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1016\/j.neuron.2012.12.008","article-title":"The autism sequencing consortium: large-scale, high-throughput sequencing in autism spectrum disorders","volume":"76","author":"Buxbaum","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2026.06.012_bib46","doi-asserted-by":"crossref","first-page":"1320","DOI":"10.1038\/s41588-022-01104-0","article-title":"Rare coding variation provides insight into the genetic architecture and phenotypic context of autism","volume":"54","author":"Fu","year":"2022","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib47","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003671","article-title":"Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes","volume":"9","author":"He","year":"2013","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib48","doi-asserted-by":"crossref","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.06.012_bib49","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl Variant Effect Predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib50","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0026203","article-title":"Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome","volume":"6","author":"Sheridan","year":"2011","journal-title":"PLoS One"},{"key":"10.1016\/j.ajhg.2026.06.012_bib51","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1038\/nn.4235","article-title":"Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR","volume":"19","author":"Tai","year":"2016","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2026.06.012_bib52","article-title":"Parallelized engineering of mutational models using piggyBac transposon delivery of CRISPR libraries","volume":"4","author":"Nuttle","year":"2024","journal-title":"Cell Rep. Methods"},{"key":"10.1016\/j.ajhg.2026.06.012_bib53","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/ajmg.a.61392","article-title":"Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome","volume":"182","author":"Boone","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib54","doi-asserted-by":"crossref","first-page":"1836","DOI":"10.1038\/nprot.2012.116","article-title":"Directed differentiation of human pluripotent stem cells to cerebral cortex neurons and neural networks","volume":"7","author":"Shi","year":"2012","journal-title":"Nat. Protoc."},{"key":"10.1016\/j.ajhg.2026.06.012_bib55","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.neuron.2013.05.029","article-title":"Rapid single-step induction of functional neurons from human pluripotent stem cells","volume":"78","author":"Zhang","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.ajhg.2026.06.012_bib56","doi-asserted-by":"crossref","first-page":"1789","DOI":"10.1016\/j.ajhg.2022.08.012","article-title":"Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models","volume":"109","author":"Tai","year":"2022","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib57","doi-asserted-by":"crossref","first-page":"e45","DOI":"10.1093\/nar\/29.9.e45","article-title":"A new mathematical model for relative quantification in real-time RT-PCR","volume":"29","author":"Pfaffl","year":"2001","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.06.012_bib58","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"10.1016\/j.ajhg.2026.06.012_bib59","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: a flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.012_bib60","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.012_bib61","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.1093\/bioinformatics\/bts196","article-title":"RNA-SeQC: RNA-seq metrics for quality control and process optimization","volume":"28","author":"DeLuca","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.012_bib62","doi-asserted-by":"crossref","first-page":"2184","DOI":"10.1093\/bioinformatics\/bts356","article-title":"RSeQC: quality control of RNA-seq experiments","volume":"28","author":"Wang","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.012_bib63","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The Sequence Alignment\/Map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.012_bib64","article-title":"Haplotype-based variant detection from short-read sequencing","author":"Garrison","year":"2012","journal-title":"arXiv"},{"key":"10.1016\/j.ajhg.2026.06.012_bib65","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib66","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1093\/bioinformatics\/bts034","article-title":"The sva package for removing batch effects and other unwanted variation in high-throughput experiments","volume":"28","author":"Leek","year":"2012","journal-title":"Bioinformatics"},{"key":"10.1016\/j.ajhg.2026.06.012_bib67","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1016\/j.cels.2015.12.004","article-title":"The Molecular Signatures Database (MSigDB) hallmark gene set collection","volume":"1","author":"Liberzon","year":"2015","journal-title":"Cell Syst."},{"key":"10.1016\/j.ajhg.2026.06.012_bib68","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.add4136","article-title":"Decreasing Wapl dosage partially corrects embryonic growth and brain transcriptome phenotypes in Nipbl(+\/-) embryos","volume":"8","author":"Kean","year":"2022","journal-title":"Sci. Adv."},{"key":"10.1016\/j.ajhg.2026.06.012_bib69","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.67250","article-title":"Cardiac pathologies in mouse loss of imprinting models are due to misexpression of H19 long noncoding RNA","volume":"10","author":"Park","year":"2021","journal-title":"eLife"},{"key":"10.1016\/j.ajhg.2026.06.012_bib70","doi-asserted-by":"crossref","DOI":"10.3791\/53569","article-title":"A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy","author":"Feather-Schussler","year":"2016","journal-title":"J. Vis. Exp."},{"key":"10.1016\/j.ajhg.2026.06.012_bib71","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1086\/513607","article-title":"Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities","volume":"80","author":"Balciuniene","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib72","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.ejmg.2011.10.003","article-title":"BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome","volume":"55","author":"Breckpot","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib73","first-page":"948","article-title":"Reduced bone morphogenetic protein receptor type 1A signaling in neural-crest-derived cells causes facial dysmorphism","volume":"5","author":"Saito","year":"2012","journal-title":"Dis. Model. Mech."},{"key":"10.1016\/j.ajhg.2026.06.012_bib74","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1159\/000469965","article-title":"A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3\/4","volume":"8","author":"Coelho Molck","year":"2017","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib75","article-title":"Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders","volume":"5","author":"Azidane","year":"2024","journal-title":"HGG Adv."},{"key":"10.1016\/j.ajhg.2026.06.012_bib76","doi-asserted-by":"crossref","DOI":"10.1126\/science.aat4311","article-title":"Neuron-specific signatures in the chromosomal connectome associated with schizophrenia risk","volume":"362","author":"Rajarajan","year":"2018","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.06.012_bib77","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1038\/s41598-018-19173-9","article-title":"NIPBL(+\/-) haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states","volume":"8","author":"Mills","year":"2018","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ajhg.2026.06.012_bib78","doi-asserted-by":"crossref","first-page":"3545","DOI":"10.1158\/0008-5472.CAN-03-3822","article-title":"Expression of a novel human gene, human wings apart-like (hWAPL), is associated with cervical carcinogenesis and tumor progression","volume":"64","author":"Oikawa","year":"2004","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2026.06.012_bib79","article-title":"The landscape of regional missense mutational intolerance quantified from 125,748 exomes","author":"Chao","year":"2024","journal-title":"bioRxiv"},{"key":"10.1016\/j.ajhg.2026.06.012_bib80","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1038\/s41586-022-04556-w","article-title":"Rare coding variants in ten genes confer substantial risk for schizophrenia","volume":"604","author":"Singh","year":"2022","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib81","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/s41588-022-01034-x","article-title":"Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia","volume":"54","author":"Palmer","year":"2022","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib82","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1038\/s41593-024-01747-8","article-title":"Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes","volume":"27","year":"2024","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.ajhg.2026.06.012_bib83","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.cell.2020.09.014","article-title":"The Self-Organizing Genome: Principles of Genome Architecture and Function","volume":"183","author":"Misteli","year":"2020","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib84","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1080\/15384101.2019.1658476","article-title":"The expanding phenotypes of cohesinopathies: one ring to rule them all","volume":"18","author":"Pich\u00e9","year":"2019","journal-title":"Cell Cycle"},{"key":"10.1016\/j.ajhg.2026.06.012_bib85","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1038\/nsmb.2880","article-title":"Structure of cohesin subcomplex pinpoints direct shugoshin-Wapl antagonism in centromeric cohesion","volume":"21","author":"Hara","year":"2014","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib86","doi-asserted-by":"crossref","DOI":"10.1126\/science.abn8197","article-title":"The landscape of tolerated genetic variation in humans and primates","volume":"380","author":"Gao","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.06.012_bib87","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.10851","article-title":"Cohesin-interacting protein WAPL-1 regulates meiotic chromosome structure and cohesion by antagonizing specific cohesin complexes","volume":"5","author":"Crawley","year":"2016","journal-title":"eLife"},{"key":"10.1016\/j.ajhg.2026.06.012_bib88","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1007225","article-title":"Brca2, Pds5 and Wapl differentially control cohesin chromosome association and function","volume":"14","author":"Misulovin","year":"2018","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib89","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1016\/j.devcel.2020.01.024","article-title":"WAPL-Dependent Repair of Damaged DNA Replication Forks Underlies Oncogene-Induced Loss of Sister Chromatid Cohesion","volume":"52","author":"Benedict","year":"2020","journal-title":"Dev. Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib90","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1038\/s41586-020-2454-y","article-title":"Wapl repression by Pax5 promotes V gene recombination by Igh loop extrusion","volume":"584","author":"Hill","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib91","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1038\/s41586-020-03121-7","article-title":"Loop extrusion mediates physiological Igh locus contraction for RAG scanning","volume":"590","author":"Dai","year":"2021","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib92","doi-asserted-by":"crossref","first-page":"1970","DOI":"10.1038\/s41467-017-02037-7","article-title":"Developmental nonlinearity drives phenotypic robustness","volume":"8","author":"Green","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.ajhg.2026.06.012_bib93","doi-asserted-by":"crossref","first-page":"3573","DOI":"10.15252\/embj.201798004","article-title":"Topologically associating domains and chromatin loops depend on cohesin and are regulated by CTCF, WAPL, and PDS5 proteins","volume":"36","author":"Wutz","year":"2017","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2026.06.012_bib94","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1038\/s41588-020-00744-4","article-title":"WAPL maintains a cohesin loading cycle to preserve cell-type-specific distal gene regulation","volume":"53","author":"Liu","year":"2021","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib95","doi-asserted-by":"crossref","DOI":"10.1126\/science.adf8440","article-title":"WAPL functions as a rheostat of Protocadherin isoform diversity that controls neural wiring","volume":"380","author":"Kiefer","year":"2023","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2026.06.012_bib96","doi-asserted-by":"crossref","first-page":"3600","DOI":"10.15252\/embj.201798083","article-title":"A mechanism of cohesin-dependent loop extrusion organizes zygotic genome architecture","volume":"36","author":"Gassler","year":"2017","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2026.06.012_bib97","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1038\/nature22063","article-title":"Cohesin is positioned in mammalian genomes by transcription, CTCF and Wapl","volume":"544","author":"Busslinger","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib98","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.cell.2017.04.013","article-title":"The Cohesin Release Factor WAPL Restricts Chromatin Loop Extension","volume":"169","author":"Haarhuis","year":"2017","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib99","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/nature12867","article-title":"Biochemical reconstitution of topological DNA binding by the cohesin ring","volume":"505","author":"Murayama","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib100","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1016\/j.molcel.2018.05.022","article-title":"Scc2 Is a Potent Activator of Cohesin's ATPase that Promotes Loading by Binding Scc1 without Pds5","volume":"70","author":"Petela","year":"2018","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib101","doi-asserted-by":"crossref","first-page":"13020","DOI":"10.1073\/pnas.1306900110","article-title":"Pds5 promotes and protects cohesin acetylation","volume":"110","author":"Chan","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2026.06.012_bib102","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/nature11316","article-title":"HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle","volume":"489","author":"Deardorff","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2026.06.012_bib103","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1016\/j.cell.2010.10.031","article-title":"Sororin mediates sister chromatid cohesion by antagonizing Wapl","volume":"143","author":"Nishiyama","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib104","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1074\/jbc.RA119.011099","article-title":"PDS5 proteins are required for proper cohesin dynamics and participate in replication fork protection","volume":"295","author":"Morales","year":"2020","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2026.06.012_bib105","doi-asserted-by":"crossref","first-page":"2133","DOI":"10.1242\/jcs.02355","article-title":"Functional contribution of Pds5 to cohesin-mediated cohesion in human cells and Xenopus egg extracts","volume":"118","author":"Losada","year":"2005","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.ajhg.2026.06.012_bib106","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/S0092-8674(00)00132-X","article-title":"Two distinct pathways remove mammalian cohesin from chromosome arms in prophase and from centromeres in anaphase","volume":"103","author":"Waizenegger","year":"2000","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib107","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1038\/emboj.2013.230","article-title":"Pds5B is required for cohesion establishment and Aurora B accumulation at centromeres","volume":"32","author":"Carretero","year":"2013","journal-title":"EMBO J."},{"key":"10.1016\/j.ajhg.2026.06.012_bib108","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.molcel.2016.02.033","article-title":"Structural Basis and IP6 Requirement for Pds5-Dependent Cohesin Dynamics","volume":"62","author":"Ouyang","year":"2016","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib109","doi-asserted-by":"crossref","first-page":"10879","DOI":"10.1093\/nar\/gkw921","article-title":"Roles for APRIN (PDS5B) in homologous recombination and in ovarian cancer prediction","volume":"44","author":"Couturier","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2026.06.012_bib110","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1016\/j.molcel.2018.11.001","article-title":"Repression of Transcription at DNA Breaks Requires Cohesin throughout Interphase and Prevents Genome Instability","volume":"73","author":"Meisenberg","year":"2019","journal-title":"Mol. Cell"},{"key":"10.1016\/j.ajhg.2026.06.012_bib111","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s13072-022-00469-0","article-title":"Contribution of variant subunits and associated factors to genome-wide distribution and dynamics of cohesin","volume":"15","author":"Cuadrado","year":"2022","journal-title":"Epigenetics Chromatin"},{"key":"10.1016\/j.ajhg.2026.06.012_bib112","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1038\/s41594-022-00773-z","article-title":"The cohesin acetylation cycle controls chromatin loop length through a PDS5A brake mechanism","volume":"29","author":"van Ruiten","year":"2022","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib113","doi-asserted-by":"crossref","first-page":"531","DOI":"10.3389\/fcell.2020.00531","article-title":"Pds5A and Pds5B Display Non-redundant Functions in Mitosis and Their Loss Triggers Chk1 Activation","volume":"8","author":"Al-Jomah","year":"2020","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.ajhg.2026.06.012_bib114","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1038\/s41588-025-02169-3","article-title":"Transcriptome-wide analysis of differential expression in perturbation atlases","volume":"57","author":"Nadig","year":"2025","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2026.06.012_bib115","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1010528","article-title":"Co-depletion of NIPBL and WAPL balance cohesin activity to correct gene misexpression","volume":"18","author":"Luppino","year":"2022","journal-title":"PLoS Genet."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726002387?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929726002387?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T20:29:25Z","timestamp":1786998565000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929726002387"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":115,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["S0002929726002387"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2026.06.012","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder","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.2026.06.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 American Society of Human Genetics. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}