{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T23:36:44Z","timestamp":1781307404134,"version":"3.54.1"},"reference-count":62,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T00:00:00Z","timestamp":1486425600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"JSPS KAKENHI","award":["15H05687 and 16K15836"],"award-info":[{"award-number":["15H05687 and 16K15836"]}]},{"DOI":"10.13039\/100000072","name":"National Institute for Dental and Craniofacial Research","doi-asserted-by":"crossref","award":["DE DE016082"],"award-info":[{"award-number":["DE DE016082"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Stowers Institute for Medical Research (PAT)"},{"DOI":"10.13039\/501100004206","name":"Osaka University","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004206","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,4,1]]},"DOI":"10.1093\/hmg\/ddx031","type":"journal-article","created":{"date-parts":[[2017,2,7]],"date-time":"2017-02-07T12:11:18Z","timestamp":1486469478000},"page":"1268-1279","source":"Crossref","is-referenced-by-count":32,"title":["Rdh10 loss-of-function and perturbed retinoid signaling underlies the etiology of choanal atresia"],"prefix":"10.1093","volume":"26","author":[{"given":"Hiroshi","family":"Kurosaka","sequence":"first","affiliation":[{"name":"Department of Orthodontics and Dentofacial Orthopedics, Graduate School of Dentistry, Osaka University, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics and Dentofacial Orthopedics, Graduate School of Dentistry, Osaka University, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Sandell","sequence":"additional","affiliation":[{"name":"Department of Oral Immunology and Infectious Diseases, University of Louisville, School of Dentistry, Louisville, KY, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Yamashiro","sequence":"additional","affiliation":[{"name":"Department of Orthodontics and Dentofacial Orthopedics, Graduate School of Dentistry, Osaka University, Osaka, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul A.","family":"Trainor","sequence":"additional","affiliation":[{"name":"Stowers Institute for Medical Research, Kansas City, MO, USA and"},{"name":"Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2017,2,7]]},"reference":[{"key":"key\n\t\t\t\t20180328173358_ddx031-B1","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ajmg.c.31375","article-title":"Facial dysostoses, Etiology, pathogenesis and management","volume":"163C","author":"Trainor","year":"2013","journal-title":"Am. J. Med. Genet. C. Semin. Med. Genet"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B2","doi-asserted-by":"crossref","first-page":"2984","DOI":"10.1002\/ajmg.a.33454","article-title":"Craniofacial birth defects, The role of neural crest cells in the etiology and pathogenesis of Treacher Collins syndrome and the potential for prevention","volume":"152A","author":"Trainor","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B3","doi-asserted-by":"crossref","first-page":"1660","DOI":"10.1172\/JCI72688","article-title":"Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis","volume":"124","author":"Kurosaka","year":"2014","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B4","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1038\/nrg2933","article-title":"Cleft lip and palate, understanding genetic and environmental influences","volume":"12","author":"Dixon","year":"2011","journal-title":"Nat. Rev. Genet"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B5","doi-asserted-by":"crossref","first-page":"52.","DOI":"10.3389\/fped.2015.00052","article-title":"Current Updates on Choanal Atresia","volume":"3","author":"Kwong","year":"2015","journal-title":"Front. Pediatr"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B6","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.otc.2009.01.001","article-title":"Choanal atresia and choanal stenosis","volume":"42","author":"Ramsden","year":"2009","journal-title":"Otolaryngol. Clin. North. Am"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B7","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1001\/archoto.2009.53","article-title":"Characterization of congenital anomalies in individuals with choanal atresia","volume":"135","author":"Burrow","year":"2009","journal-title":"Arch. Otolaryngol. Head. Neck. Surg"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B8","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1007\/s12663-009-0013-z","article-title":"Management of choanal atresia in cases of craniofacial malformation","volume":"8","author":"Stieve","year":"2009","journal-title":"J. Maxillofac. Oral. Surg"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B9","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S1808-8694(15)31296-9","article-title":"Treacher Collins Syndrome with choanal atresia, a case report and review of disease features","volume":"71","author":"Andrade","year":"2005","journal-title":"Braz. J. Otorhinolaryngol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B10","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1097\/MLG.0b013e3181639b91","article-title":"Choanal atresia, embryologic analysis and evolution of treatment, a 30-year experience","volume":"118","author":"Hengerer","year":"2008","journal-title":"Laryngoscope"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B11","doi-asserted-by":"crossref","first-page":"2233","DOI":"10.3174\/ajnr.A3415","article-title":"Illustrated review of the embryology and development of the facial region, part 1, Early face and lateral nasal cavities","volume":"34","author":"Som","year":"2013","journal-title":"AJNR. Am. J. Neuroradiol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B12","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1097\/00005537-200410000-00022","article-title":"Early development of the nose in human embryos, a stereomicroscopic and histologic analysis","volume":"114","author":"Kim","year":"2004","journal-title":"Laryngoscope"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B13","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1177\/000348946407300216","article-title":"Congenital choanal atresia in infants and children","volume":"73","author":"Flake","year":"1964","journal-title":"Ann. Otol. Rhinol. Laryngol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B14","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1288\/00005537-198208000-00012","article-title":"Choanal atresia, a new embryologic theory and its influence on surgical management","volume":"92","author":"Hengerer","year":"1982","journal-title":"Laryngoscope"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B15","doi-asserted-by":"crossref","first-page":"1113","DOI":"10.1101\/gad.1533407","article-title":"RDH10 is essential for synthesis of embryonic retinoic acid and is required for limb, craniofacial, and organ development","volume":"21","author":"Sandell","year":"2007","journal-title":"Genes. Dev"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B16","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1002\/dvg.20727","article-title":"A phenotype-driven ENU mutagenesis screen identifies novel alleles with functional roles in early mouse craniofacial development","volume":"49","author":"Sandell","year":"2011","journal-title":"Genesis"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B17","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ydbio.2011.07.011","article-title":"RDH10 is the primary enzyme responsible for the first step of embryonic Vitamin A metabolism and retinoic acid synthesis","volume":"357","author":"Farjo","year":"2011","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B18","doi-asserted-by":"crossref","first-page":"e30698.","DOI":"10.1371\/journal.pone.0030698","article-title":"RDH10 oxidation of Vitamin A is a critical control step in synthesis of retinoic acid during mouse embryogenesis","volume":"7","author":"Sandell","year":"2012","journal-title":"PLoS. One"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B19","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1002\/dvdy.22583","article-title":"Rdh10 mutants deficient in limb field retinoic acid signaling exhibit normal limb patterning but display interdigital webbing","volume":"240","author":"Cunningham","year":"2011","journal-title":"Dev. Dyn"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B20","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1016\/j.celrep.2013.03.036","article-title":"Antagonism between retinoic acid and fibroblast growth factor signaling during limb development","volume":"3","author":"Cunningham","year":"2013","journal-title":"Cell. Rep"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B21","doi-asserted-by":"crossref","first-page":"e0137894.","DOI":"10.1371\/journal.pone.0137894","article-title":"Retinoic Acid Activity in Undifferentiated Neural Progenitors Is Sufficient to Fulfill Its Role in Restricting Fgf8 Expression for Somitogenesis","volume":"10","author":"Cunningham","year":"2015","journal-title":"PLoS. One"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B22","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1172\/JCI82956","article-title":"Transcription factor TLX1 controls retinoic acid signaling to ensure spleen development","volume":"126","author":"Lenti","year":"2016","journal-title":"J. Clin. Invest"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B23","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1006\/dbio.2002.0597","article-title":"Efficient recombination in diverse tissues by a tamoxifen-inducible form of Cre, a tool for temporally regulated gene activation\/inactivation in the mouse","volume":"244","author":"Hayashi","year":"2002","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B24","doi-asserted-by":"crossref","first-page":"1333","DOI":"10.1101\/gad.5.8.1333","article-title":"Expression of a retinoic acid response element-hsplacZ transgene defines specific domains of transcriptional activity during mouse embryogenesis","volume":"5","author":"Rossant","year":"1991","journal-title":"Genes. Dev"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B25","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1002\/dvg.22344","article-title":"Whole mount nuclear fluorescent imaging, convenient documentation of embryo morphology","volume":"50","author":"Sandell","year":"2012","journal-title":"Genesis"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B26","doi-asserted-by":"crossref","first-page":"14036","DOI":"10.1073\/pnas.2336223100","article-title":"A newborn lethal defect due to inactivation of retinaldehyde dehydrogenase type 3 is prevented by maternal retinoic acid treatment","volume":"100","author":"Dup\u00e9","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B27","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S0925-4773(00)00518-9","article-title":"Expression of members of the Fgf family and their receptors during midfacial development","volume":"100","author":"Bachler","year":"2001","journal-title":"Mech. Dev"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B28","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1242\/dmm.017616","article-title":"Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage","volume":"8","author":"Green","year":"2015","journal-title":"Dis. Model. Mech"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B29","doi-asserted-by":"crossref","first-page":"3136","DOI":"10.1101\/gad.13.23.3136","article-title":"Cre-mediated gene inactivation demonstrates that FGF8 is required for cell survival and patterning of the first branchial arch","volume":"13","author":"Trumpp","year":"1999","journal-title":"Genes. Dev"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B30","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1111\/j.1525-142X.2010.00432.x","article-title":"Role of Dlx genes in craniofacial morphogenesis, Dlx2 influences skeletal patterning by inducing ectomesenchymal aggregation in ovo","volume":"12","author":"Gordon","year":"2010","journal-title":"Evol. Dev"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B31","doi-asserted-by":"crossref","first-page":"16687","DOI":"10.1073\/pnas.1103877108","article-title":"Involvement of retinol dehydrogenase 10 in embryonic patterning and rescue of its loss of function by maternal retinaldehyde treatment","volume":"108","author":"Rhinn","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B32","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.ydbio.2015.08.008","article-title":"Retinoic acid regulates embryonic development of mammalian submandibular salivary glands","volume":"407","author":"Wright","year":"2015","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B33","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1038\/nrg2340","article-title":"Retinoic acid in development, towards an integrated view","volume":"9","author":"Niederreither","year":"2008","journal-title":"Nat. Rev. Genet"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B34","first-page":"105","article-title":"Analysis of upper beak defects in chicken embryos following with retinoic acid","volume":"84","author":"Tamarin","year":"1984","journal-title":"J. Embryol. Exp. Morphol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B35","first-page":"169","article-title":"Quantitative analysis of the effect of retinoids on facial morphogenesis","volume":"2","author":"Wedden","year":"1986","journal-title":"J. Craniofac. Genet. Dev. Biol. Suppl"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B36","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1002\/tera.1420400602","article-title":"Etiology of retinoic acid-induced cleft palate varies with the embryonic stage","volume":"40","author":"Abbott","year":"1989","journal-title":"Teratology"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B37","first-page":"190","article-title":"Locally released retinoic acid leads to facial clefts in the chick embryo but does not alter the expression of receptors for fibroblast growth factor","volume":"15","author":"Richman","year":"1995","journal-title":"J. Craniofac. Genet. Dev. Biol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B38","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/nrm3932","article-title":"Mechanisms of retinoic acid signalling and its roles in organ and limb development","volume":"16","author":"Cunningham","year":"2015","journal-title":"Nat. Rev. Mol. Cell. Biol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B39","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1038\/nature05541","article-title":"Restoration of p53 function leads to tumour regression in vivo","volume":"445","author":"Ventura","year":"2007","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B40","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1111\/joa.12291","article-title":"Diversity in primary palate ontogeny of amniotes revealed with 3D imaging","volume":"226","author":"Abramyan","year":"2015","journal-title":"J. Anat"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B41","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S0925-4773(00)00434-2","article-title":"RALDH3, a retinaldehyde dehydrogenase that generates retinoic acid, is expressed in the ventral retina, otic vesicle and olfactory pit during mouse development","volume":"97","author":"Mic","year":"2000","journal-title":"Mech. Dev"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B42","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1597\/02-105","article-title":"Choanal atresia and rare craniofacial clefts, report of three cases with a review of the literature","volume":"41","author":"Bonafos","year":"2004","journal-title":"Cleft. Palate. Craniofac J"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B43","doi-asserted-by":"crossref","first-page":"4171","DOI":"10.1093\/hmg\/ddp368","article-title":"Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes","volume":"18","author":"Pauws","year":"2009","journal-title":"Hum. Mol. Genet"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B44","doi-asserted-by":"crossref","first-page":"2755","DOI":"10.1242\/dev.128.14.2755","article-title":"Local retinoid signaling coordinates forebrain and facial morphogenesis by maintaining FGF8 and SHH","volume":"128","author":"Schneider","year":"2001","journal-title":"Development"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B45","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.ydbio.2004.08.035","article-title":"Control of retinoic acid synthesis and FGF expression in the nasal pit is required to pattern the craniofacial skeleton","volume":"276","author":"Song","year":"2004","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B46","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1097\/SCS.0000000000002333","article-title":"Management of the Airway in Apert Syndrome","volume":"27","author":"Xie","year":"2016","journal-title":"J. Craniofac. Surg"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B47","doi-asserted-by":"crossref","first-page":"1131","DOI":"10.1111\/j.1460-9592.2005.01585.x","article-title":"Perioperative care of a patient with Beare-Stevenson syndrome","volume":"15","author":"Upmeyer","year":"2005","journal-title":"Paediatr. Anaesth"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B48","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1002\/ajmg.1320290412","article-title":"Antley-Bixler syndrome from a prognostic perspective, report of a case and review of the literature","volume":"29","author":"Escobar","year":"1988","journal-title":"Am. J. Med. Genet"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B49","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1093\/jmcb\/mjv052","article-title":"FGF8 signaling sustains progenitor status and multipotency of cranial neural crest-derived mesenchymal cells in vivo and in vitro","volume":"7","author":"Shao","year":"2015","journal-title":"J. Mol. Cell. Biol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B50","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.ydbio.2012.11.014","article-title":"Fgf8 dosage determines midfacial integration and polarity within the nasal and optic capsules","volume":"374","author":"Griffin","year":"2013","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B51","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/nature11792","article-title":"Mitotic cell rounding accelerates epithelial invagination","volume":"494","author":"Kondo","year":"2013","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B52","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1111\/dgd.12224","article-title":"Mechanisms of cell height changes that mediate epithelial invagination","volume":"57","author":"Kondo","year":"2015","journal-title":"Dev. Growth. Differ"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B53","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1242\/dev.127.2.217","article-title":"Independent regulation of Dlx2 expression in the epithelium and mesenchyme of the first branchial arch","volume":"127","author":"Thomas","year":"2000","journal-title":"Development"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B54","doi-asserted-by":"crossref","first-page":"4325","DOI":"10.1242\/dev.125.21.4325","article-title":"FGFs and BMP4 induce both Msx1-independent and Msx1-dependent signaling pathways in early tooth development","volume":"125","author":"Bei","year":"1998","journal-title":"Development"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B55","doi-asserted-by":"crossref","first-page":"901041.","DOI":"10.1155\/2015\/901041","article-title":"The Roles of Hedgehog Signaling in Upper Lip Formation","volume":"2015","author":"Kurosaka","year":"2015","journal-title":"Biomed. Res. Int"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B56","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1242\/dev.099994","article-title":"Embryonic bauplans and the developmental origins of facial diversity and constraint","volume":"141","author":"Young","year":"2014","journal-title":"Development"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B57","doi-asserted-by":"crossref","first-page":"1607","DOI":"10.1242\/dev.127.8.1607","article-title":"Fate of the mammalian cardiac neural crest","volume":"127","author":"Jiang","year":"2000","journal-title":"Development"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B58","doi-asserted-by":"crossref","first-page":"1671","DOI":"10.1242\/dev.127.8.1671","article-title":"Fate of the mammalian cranial neural crest during tooth and mandibular morphogenesis","volume":"127","author":"Chai","year":"2000","journal-title":"Development"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B59","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/5007","article-title":"Generalized lacZ expression with the ROSA26 Cre reporter strain","volume":"21","author":"Soriano","year":"1999","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B60","doi-asserted-by":"crossref","first-page":"e1002927.","DOI":"10.1371\/journal.pgen.1002927","article-title":"Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects","volume":"8","author":"Dennis","year":"2012","journal-title":"PLoS. Genet"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B61","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1093\/bioinformatics\/btp120","article-title":"TopHat, discovering splice junctions with RNA-Seq","volume":"25","author":"Trapnell","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180328173358_ddx031-B62","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1093\/bioinformatics\/btp616","article-title":"edgeR, a Bioconductor package for differential expression analysis of digital gene expression data","volume":"26","author":"Robinson","year":"2010","journal-title":"Bioinformatics"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/26\/7\/1268\/13178143\/ddx031.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,22]],"date-time":"2024-06-22T10:08:28Z","timestamp":1719050908000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/26\/7\/1268\/2972792"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2,7]]},"references-count":62,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2017,2,7]]},"published-print":{"date-parts":[[2017,4,1]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx031","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,4,1]]},"published":{"date-parts":[[2017,2,7]]}}}