{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T06:46:49Z","timestamp":1789541209790,"version":"build-2803163510"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"name":"The Netherlands Cardiovascular Research Initiative"},{"DOI":"10.13039\/501100002996","name":"Dutch Heart Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100002996","id-type":"DOI","asserted-by":"crossref"}]},{"name":"CVON2014-CONCORgenes"},{"name":"The Shenzhen Municipal Government of China","award":["CXZZ20130517144604091"],"award-info":[{"award-number":["CXZZ20130517144604091"]}]},{"name":"The Shenzhen Key Laboratory of Genomics","award":["CXB200903110066A"],"award-info":[{"award-number":["CXB200903110066A"]}]},{"name":"Guangdong Enterprise Key Laboratory of Human Disease Genomics","award":["2011A060906007"],"award-info":[{"award-number":["2011A060906007"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,2]]},"DOI":"10.1002\/humu.22928","type":"journal-article","created":{"date-parts":[[2015,11,4]],"date-time":"2015-11-04T10:02:37Z","timestamp":1446631357000},"page":"194-200","source":"Crossref","is-referenced-by-count":33,"title":["A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function"],"prefix":"10.1155","volume":"37","author":[{"given":"Emily S.","family":"No\u00ebl","sequence":"first","affiliation":[{"name":"Hubrecht Institute-KNAW and Medical Physiology, Division Heart and Lungs; University Medical Centre; Utrecht The Netherlands"},{"name":"Current Address: Department of Biomedical Science and Bateson Centre; University of Sheffield; Sheffield United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarek S.","family":"Momenah","sequence":"additional","affiliation":[{"name":"Prince Salman Heart Center; King Fahad Medical City; Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Dagriri","sequence":"additional","affiliation":[{"name":"Prince Sultan Cardiac Center; Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman","family":"Al-Suwaid","sequence":"additional","affiliation":[{"name":"National Guard Hospital; Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safar","family":"Al-Shahrani","sequence":"additional","affiliation":[{"name":"College of Medicine; King Khaled University; Abha Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Jiang","sequence":"additional","affiliation":[{"name":"BGI-Shenzhen; Shenzhen China"},{"name":"Shenzhen Key Laboratory of Genomics; Shenzhen China"},{"name":"The Guangdong Enterprise Key Laboratory of Human Disease Genomics; Shenzen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven","family":"Willekers","sequence":"additional","affiliation":[{"name":"Hubrecht Institute-KNAW and Medical Physiology, Division Heart and Lungs; University Medical Centre; Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yara Y.","family":"Oostveen","sequence":"additional","affiliation":[{"name":"Hubrecht Institute-KNAW and Medical Physiology, Division Heart and Lungs; University Medical Centre; Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonja","family":"Chocron","sequence":"additional","affiliation":[{"name":"Hubrecht Institute-KNAW and Medical Physiology, Division Heart and Lungs; University Medical Centre; Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex V.","family":"Postma","sequence":"additional","affiliation":[{"name":"Department of Anatomy, Embryology & Physiology; Academic Medical Center; The Netherlands"},{"name":"Department of Clinical Genetics; Academic Medical Center; Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zahurul A.","family":"Bhuiyan","sequence":"additional","affiliation":[{"name":"Laboratoire de Genetique Moleculaire; Service de Genetique Medicale; CHUV Lausanne Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeroen","family":"Bakkers","sequence":"additional","affiliation":[{"name":"Hubrecht Institute-KNAW and Medical Physiology, Division Heart and Lungs; University Medical Centre; Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,12,2]]},"reference":[{"key":"10.1002\/humu.22928-BIB0001|humu22928-cit-0001","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1002\/humu.22928-BIB0002|humu22928-cit-0002","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1126\/science.1084576","article-title":"A human syndrome caused by immotile cilia","volume":"193","author":"Afzelius","year":"1976","journal-title":"Science"},{"key":"10.1002\/humu.22928-BIB0003|humu22928-cit-0003","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/humu.22261","article-title":"Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms","volume":"34","author":"Antony","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22928-BIB0004|humu22928-cit-0004","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/j.ydbio.2009.04.011","article-title":"Shaping the zebrafish heart: from left-right axis specification to epithelial tissue morphogenesis","volume":"330","author":"Bakkers","year":"2009","journal-title":"Dev Biol"},{"key":"10.1002\/humu.22928-BIB0005|humu22928-cit-0005","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1093\/bfgp\/elr021","article-title":"Lessons from morpholino-based screening in zebrafish","volume":"10","author":"Bedell","year":"2011","journal-title":"Brief Funct Genomics"},{"key":"10.1002\/humu.22928-BIB0006|humu22928-cit-0006","doi-asserted-by":"crossref","first-page":"3567","DOI":"10.1242\/dev.127.16.3567","article-title":"Multiple pathways in the midline regulate concordant brain, heart and gut left-right asymmetry","volume":"127","author":"Bisgrove","year":"2000","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0007|humu22928-cit-0007","doi-asserted-by":"crossref","first-page":"e82","DOI":"10.1093\/nar\/gkr218","article-title":"Efficient design and assembly of custom TALEN and other TAL effector-based constructs for DNA targeting","volume":"39","author":"Cermak","year":"2011","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22928-BIB0008|humu22928-cit-0008","doi-asserted-by":"crossref","first-page":"4373","DOI":"10.1242\/dev.124.21.4373","article-title":"Left-right pattern of cardiac BMP4 may drive asymmetry of the heart in zebrafish","volume":"124","author":"Chen","year":"1997","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0009|humu22928-cit-0009","doi-asserted-by":"crossref","first-page":"e1002861","DOI":"10.1371\/journal.pgen.1002861","article-title":"Simple methods for generating and detecting locus-specific mutations induced with TALENs in the zebrafish genome","volume":"8","author":"Dahlem","year":"2012","journal-title":"PLoS Genet"},{"key":"10.1002\/humu.22928-BIB0010|humu22928-cit-0010","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1242\/dev.001115","article-title":"Controlling morpholino experiments: don't stop making antisense","volume":"135","author":"Eisen","year":"2008","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0011|humu22928-cit-0011","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1242\/dev.01663","article-title":"Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut","volume":"132","author":"Essner","year":"2005","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0012|humu22928-cit-0012","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1242\/dev.00270","article-title":"The parapineal mediates left-right asymmetry in the zebrafish diencephalon","volume":"130","author":"Gamse","year":"2003","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0013|humu22928-cit-0013","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/j.ydbio.2010.11.030","article-title":"Morpholino artifacts provide pitfalls and reveal a novel role for pro-apoptotic genes in hindbrain boundary development","volume":"350","author":"Gerety","year":"2011","journal-title":"Dev Biol"},{"key":"10.1002\/humu.22928-BIB0014|humu22928-cit-0014","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.ajhg.2011.03.004","article-title":"Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel","volume":"88","author":"Gonzalez-Perez","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22928-BIB0015|humu22928-cit-0015","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1126\/science.1172478","article-title":"Cell movements at Hensen's node establish left\/right asymmetric gene expression in the chick","volume":"324","author":"Gros","year":"2009","journal-title":"Science"},{"key":"10.1002\/humu.22928-BIB0016|humu22928-cit-0016","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.cell.2006.03.002","article-title":"Nodal flow and the generation of left-right asymmetry","volume":"125","author":"Hirokawa","year":"2006","journal-title":"Cell"},{"key":"10.1002\/humu.22928-BIB0017|humu22928-cit-0017","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":"10.1002\/humu.22928-BIB0018|humu22928-cit-0018","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1126\/science.1085397","article-title":"A cellular framework for gut-looping morphogenesis in zebrafish","volume":"302","author":"Horne-Badovinac","year":"2003","journal-title":"Science"},{"key":"10.1002\/humu.22928-BIB0019|humu22928-cit-0019","doi-asserted-by":"crossref","first-page":"e77940","DOI":"10.1371\/journal.pone.0077940","article-title":"SIFT Indel: predictions for the functional effects of amino acid insertions\/deletions in proteins","volume":"8","author":"Hu","year":"2013","journal-title":"PLoS One"},{"key":"10.1002\/humu.22928-BIB0020|humu22928-cit-0020","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1038\/nbt.2501","article-title":"Efficient genome editing in zebrafish using a CRISPR-Cas system","volume":"31","author":"Hwang","year":"2013","journal-title":"Nat Biotechnol"},{"key":"10.1002\/humu.22928-BIB0021|humu22928-cit-0021","doi-asserted-by":"crossref","first-page":"4827","DOI":"10.1242\/dev.115584","article-title":"Precise and efficient genome editing in zebrafish using the CRISPR\/Cas9 system","volume":"141","author":"Irion","year":"2014","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0022|humu22928-cit-0022","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.devcel.2014.11.018","article-title":"Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish","volume":"32","author":"Kok","year":"2015","journal-title":"Dev Cell"},{"key":"10.1002\/humu.22928-BIB0023|humu22928-cit-0023","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1242\/dev.01772","article-title":"Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis","volume":"132","author":"Kramer-Zucker","year":"2005","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0024|humu22928-cit-0024","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.ymgme.2012.08.020","article-title":"A novel homozygous mutation in SUCLA2 gene identified by exome sequencing","volume":"107","author":"Lamperti","year":"2012","journal-title":"Mol Genet Metab"},{"key":"10.1002\/humu.22928-BIB0025|humu22928-cit-0025","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1097\/00125817-200005000-00002","article-title":"Heterotaxy: associated conditions and hospital-based prevalence in newborns","volume":"2","author":"Lin","year":"2000","journal-title":"Genet Med"},{"key":"10.1002\/humu.22928-BIB0026|humu22928-cit-0026","doi-asserted-by":"crossref","first-page":"2303","DOI":"10.1242\/dev.00436","article-title":"The zebrafish nodal-related gene southpaw is required for visceral and diencephalic left-right asymmetry","volume":"130","author":"Long","year":"2003","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0027|humu22928-cit-0027","doi-asserted-by":"crossref","first-page":"3625","DOI":"10.1242\/dev.054452","article-title":"Notch signalling regulates left-right asymmetry through ciliary length control","volume":"137","author":"Lopes","year":"2010","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0028|humu22928-cit-0028","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/humu.22738","article-title":"Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer","volume":"36","author":"Narasimhan","year":"2015","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22928-BIB0029|humu22928-cit-0029","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1038\/79951","article-title":"Effective targeted gene'knockdown' in zebrafish","volume":"26","author":"Nasevicius","year":"2000","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22928-BIB0030|humu22928-cit-0030","doi-asserted-by":"crossref","first-page":"2754","DOI":"10.1038\/ncomms3754","article-title":"A Nodal-independent and tissue-intrinsic mechanism controls heart-looping chirality","volume":"4","author":"Noel","year":"2013","journal-title":"Nat Commun"},{"key":"10.1002\/humu.22928-BIB0031|humu22928-cit-0031","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0092-8674(00)81705-5","article-title":"Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein","volume":"95","author":"Nonaka","year":"1998","journal-title":"Cell"},{"key":"10.1002\/humu.22928-BIB0032|humu22928-cit-0032","doi-asserted-by":"crossref","first-page":"1316","DOI":"10.1038\/ng1892","article-title":"Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya","volume":"38","author":"Oishi","year":"2006","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22928-BIB0033|humu22928-cit-0033","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1016\/j.ejmg.2005.12.003","article-title":"Human laterality disorders","volume":"49","author":"Peeters","year":"2006","journal-title":"Eur J Med Genet"},{"key":"10.1002\/humu.22928-BIB0034|humu22928-cit-0034","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1136\/jmedgenet-2011-100457","article-title":"A human laterality disorder associated with recessive CCDC11 mutation","volume":"49","author":"Perles","year":"2012","journal-title":"J Med Genet"},{"key":"10.1002\/humu.22928-BIB0035|humu22928-cit-0035","doi-asserted-by":"crossref","first-page":"3103","DOI":"10.1242\/dev.112003","article-title":"Out with the old, in with the new: reassessing morpholino knockdowns in light of genome editing technology","volume":"141","author":"Schulte-Merker","year":"2014","journal-title":"Development"},{"key":"10.1002\/humu.22928-BIB0036|humu22928-cit-0036","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"issue":"Web Server issu","key":"10.1002\/humu.22928-BIB0037|humu22928-cit-0037","doi-asserted-by":"crossref","first-page":"W593","DOI":"10.1093\/nar\/gkp369","article-title":"HomozygosityMapper-an interactive approach to homozygosity mapping","volume":"37","author":"Seelow","year":"2009","journal-title":"Nucleic Acids Res"},{"key":"10.1002\/humu.22928-BIB0038|humu22928-cit-0038","doi-asserted-by":"crossref","first-page":"1176","DOI":"10.1378\/chest.13-1704","article-title":"Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy","volume":"146","author":"Shapiro","year":"2014","journal-title":"Chest"},{"key":"10.1002\/humu.22928-BIB0039|humu22928-cit-0039","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1016\/j.jtcvs.2010.07.082","article-title":"Increased postoperative and respiratory complications in patients with congenital heart disease associated with heterotaxy","volume":"141","author":"Swisher","year":"2011","journal-title":"J Thorac Cardiovasc Surg"},{"key":"10.1002\/humu.22928-BIB0040|humu22928-cit-0040","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1083\/jcb.145.4.825","article-title":"Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-\/- mice analysis","volume":"145","author":"Takeda","year":"1999","journal-title":"J Cell Biol"},{"key":"10.1002\/humu.22928-BIB0041|humu22928-cit-0041","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1016\/j.athoracsur.2006.02.007","article-title":"Analysis of surgical outcome in complex double-outlet right ventricle with heterotaxy syndrome or complete atrioventricular canal defect","volume":"82","author":"Takeuchi","year":"2006","journal-title":"Ann Thorac Surg"},{"key":"10.1002\/humu.22928-BIB0042|humu22928-cit-0042","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1681\/ASN.2007080917","article-title":"LRRC50, a conserved ciliary protein implicated in polycystic kidney disease","volume":"19","author":"Rooijen","year":"2008","journal-title":"J Am Soc Nephrol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22928","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22928\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:56Z","timestamp":1672332836000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22928"}},"subtitle":["HUMAN MUTATION"],"short-title":[],"issued":{"date-parts":[[2015,12,2]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22928","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,12,2]]}}}