{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T17:50:48Z","timestamp":1793296248062,"version":"4.5.0"},"reference-count":50,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2015,10,1]],"date-time":"2015-10-01T00:00:00Z","timestamp":1443657600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T00:00:00Z","timestamp":1459468800000},"content-version":"vor","delay-in-days":183,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2015,10]]},"DOI":"10.1016\/j.ajhg.2015.08.012","type":"journal-article","created":{"date-parts":[[2015,9,18]],"date-time":"2015-09-18T09:08:12Z","timestamp":1442567292000},"page":"546-554","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":128,"title":["Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex"],"prefix":"10.1016","volume":"97","author":[{"given":"Heike","family":"Olbrich","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolin","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niki\u00a0T.","family":"Loges","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudius","family":"Werner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim\u00a0G.","family":"Nielsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"June\u00a0K.","family":"Marthin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Philipsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Wallmeier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Pennekamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabea","family":"Menchen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Edelbusch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard\u00a0W.","family":"Dougherty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Thiele","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janine","family":"Altm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rommelmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2015.08.012_bib1","doi-asserted-by":"crossref","first-page":"880","DOI":"10.1038\/nrm2278","article-title":"When cilia go bad: cilia defects and ciliopathies","volume":"8","author":"Fliegauf","year":"2007","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.ajhg.2015.08.012_bib2","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13630-014-0011-8","article-title":"Diagnosis and management of primary ciliary dyskinesia","volume":"4","author":"Werner","year":"2015","journal-title":"Cilia"},{"key":"10.1016\/j.ajhg.2015.08.012_bib3","doi-asserted-by":"crossref","first-page":"1248","DOI":"10.1183\/09031936.00001010","article-title":"Factors influencing age at diagnosis of primary ciliary dyskinesia in European children","volume":"36","author":"Kuehni","year":"2010","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.ajhg.2015.08.012_bib4","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1146\/annurev.physiol.69.040705.141301","article-title":"Genetic defects in ciliary structure and function","volume":"69","author":"Zariwala","year":"2007","journal-title":"Annu. Rev. Physiol."},{"key":"10.1016\/j.ajhg.2015.08.012_bib5","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng817","article-title":"Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry","volume":"30","author":"Olbrich","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib6","doi-asserted-by":"crossref","first-page":"1508","DOI":"10.1086\/302683","article-title":"Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia","volume":"65","author":"Pennarun","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib7","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.ajhg.2008.10.001","article-title":"DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm","volume":"83","author":"Loges","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib8","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.ajhg.2011.03.018","article-title":"Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1","volume":"88","author":"Mazor","year":"2011","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib9","doi-asserted-by":"crossref","first-page":"3336","DOI":"10.1073\/pnas.0611405104","article-title":"A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia","volume":"104","author":"Duriez","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2015.08.012_bib10","doi-asserted-by":"crossref","first-page":"10282","DOI":"10.1073\/pnas.152337699","article-title":"Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia","volume":"99","author":"Bartoloni","year":"2002","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2015.08.012_bib11","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1002\/humu.20656","article-title":"Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations","volume":"29","author":"Schwabe","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2015.08.012_bib12","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1038\/ng.2277","article-title":"CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms","volume":"44","author":"Panizzi","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib13","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ajhg.2012.11.002","article-title":"Splice-site mutations in the\u00a0axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia","volume":"92","author":"Onoufriadis","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib14","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1016\/j.ajhg.2012.11.003","article-title":"Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia","volume":"92","author":"Knowles","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib15","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1016\/j.ajhg.2013.06.009","article-title":"ARMC4 mutations cause primary ciliary dyskinesia with randomization of left\/right body asymmetry","volume":"93","author":"Hjeij","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib16","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ajhg.2014.08.005","article-title":"CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation","volume":"95","author":"Hjeij","year":"2014","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib17","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/nature07471","article-title":"Ktu\/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins","volume":"456","author":"Omran","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2015.08.012_bib18","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1016\/j.ajhg.2009.10.018","article-title":"Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects","volume":"85","author":"Loges","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib19","doi-asserted-by":"crossref","first-page":"890","DOI":"10.1016\/j.ajhg.2009.11.008","article-title":"Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia","volume":"85","author":"Duquesnoy","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib20","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ng.1106","article-title":"Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia","volume":"44","author":"Mitchison","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib21","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/ng.2707","article-title":"DYX1C1 is required for axonemal dynein assembly and ciliary motility","volume":"45","author":"Tarkar","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib22","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1016\/j.ajhg.2012.10.003","article-title":"Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia","volume":"91","author":"Kott","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib23","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/j.ajhg.2012.08.022","article-title":"Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia","volume":"91","author":"Horani","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib24","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1016\/j.ajhg.2013.06.007","article-title":"ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6","volume":"93","author":"Zariwala","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib25","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.ajhg.2013.07.025","article-title":"Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms","volume":"93","author":"Knowles","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib26","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2013.08.015","article-title":"Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia","volume":"93","author":"Austin-Tse","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib27","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.ajhg.2009.01.011","article-title":"Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities","volume":"84","author":"Castleman","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib28","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1016\/j.ajhg.2013.07.013","article-title":"Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects","volume":"93","author":"Kott","year":"2013","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib29","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ajhg.2015.05.004","article-title":"RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes","volume":"97","author":"Jeanson","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib30","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2012.08.016","article-title":"Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry","volume":"91","author":"Olbrich","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib31","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.726","article-title":"CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs","volume":"43","author":"Merveille","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib32","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng.727","article-title":"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation","volume":"43","author":"Becker-Heck","year":"2011","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib33","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/ng.2533","article-title":"The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans","volume":"45","author":"Wirschell","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2015.08.012_bib34","doi-asserted-by":"crossref","first-page":"e72299","DOI":"10.1371\/journal.pone.0072299","article-title":"CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia","volume":"8","author":"Horani","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.ajhg.2015.08.012_bib35","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1046\/j.1365-2818.2003.01209.x","article-title":"All-digital image capture and whole-field analysis of ciliary beat frequency","volume":"211","author":"Sisson","year":"2003","journal-title":"J.\u00a0Microsc."},{"key":"10.1016\/j.ajhg.2015.08.012_bib36","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.1164\/rccm.200411-1583OC","article-title":"Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia","volume":"171","author":"Fliegauf","year":"2005","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"10.1016\/j.ajhg.2015.08.012_bib37","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1002\/mrd.20475","article-title":"The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1","volume":"73","author":"Rashid","year":"2006","journal-title":"Mol. Reprod. Dev."},{"key":"10.1016\/j.ajhg.2015.08.012_bib38","first-page":"56","article-title":"An integrated map of genetic variation from 1092 human genomes","volume":"491","author":"Abecasis","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2015.08.012_bib39","doi-asserted-by":"crossref","first-page":"1589","DOI":"10.1183\/09031936.00088614","article-title":"Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis","volume":"44","author":"Collins","year":"2014","journal-title":"Eur. Respir. J."},{"key":"10.1016\/j.ajhg.2015.08.012_bib40","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1126\/science.1260214","article-title":"A molecular ruler determines the repeat length in eukaryotic cilia and flagella","volume":"346","author":"Oda","year":"2014","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2015.08.012_bib41","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1091\/mbc.E14-09-1367","article-title":"Detailed structural and biochemical characterization of the nexin-dynein regulatory complex","volume":"26","author":"Oda","year":"2015","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2015.08.012_bib42","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1083\/jcb.200303019","article-title":"A subunit of the dynein regulatory complex in Chlamydomonas is a homologue of a growth arrest-specific gene product","volume":"162","author":"Rupp","year":"2003","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2015.08.012_bib43","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1083\/jcb.200201036","article-title":"Trypanin is a cytoskeletal linker protein and is required for cell motility in African trypanosomes","volume":"156","author":"Hutchings","year":"2002","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2015.08.012_bib44","doi-asserted-by":"crossref","first-page":"3587","DOI":"10.1242\/jcs.073817","article-title":"CMF70 is a subunit of the dynein regulatory complex","volume":"123","author":"Kabututu","year":"2010","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2015.08.012_bib45","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/nature07520","article-title":"The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear","volume":"457","author":"Colantonio","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2015.08.012_bib46","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/cm.970080110","article-title":"Bending patterns of Chlamydomonas flagella: IV. Mutants with defects in inner and outer dynein arms indicate differences in dynein arm function","volume":"8","author":"Brokaw","year":"1987","journal-title":"Cell Motil. Cytoskeleton"},{"key":"10.1016\/j.ajhg.2015.08.012_bib47","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1083\/jcb.125.5.1109","article-title":"Mutations in the \u201cdynein regulatory complex\u201d alter the ATP-insensitive binding sites for inner arm dyneins in Chlamydomonas axonemes","volume":"125","author":"Piperno","year":"1994","journal-title":"J.\u00a0Cell Biol."},{"key":"10.1016\/j.ajhg.2015.08.012_bib48","doi-asserted-by":"crossref","first-page":"29175","DOI":"10.1074\/jbc.M111.241760","article-title":"Building blocks of the nexin-dynein regulatory complex in Chlamydomonas flagella","volume":"286","author":"Lin","year":"2011","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.ajhg.2015.08.012_bib49","doi-asserted-by":"crossref","first-page":"1134","DOI":"10.1091\/mbc.E12-11-0801","article-title":"The N-DRC forms a conserved biochemical complex that maintains outer doublet\u00a0alignment and limits microtubule sliding in motile axonemes","volume":"24","author":"Bower","year":"2013","journal-title":"Mol. Biol. Cell"},{"key":"10.1016\/j.ajhg.2015.08.012_bib50","doi-asserted-by":"crossref","first-page":"5341","DOI":"10.1074\/jbc.M114.626556","article-title":"In situ localization of N and C termini of subunits of the flagellar nexin-dynein regulatory complex (N-DRC) using SNAP tag and cryo-electron tomography","volume":"290","author":"Song","year":"2015","journal-title":"J.\u00a0Biol. Chem."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929715003341?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929715003341?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T05:51:12Z","timestamp":1537336272000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929715003341"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10]]},"references-count":50,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["S0002929715003341"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2015.08.012","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2015,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex","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.2015.08.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}