{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:05:23Z","timestamp":1792073123018,"version":"4.4.0"},"reference-count":146,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T00:00:00Z","timestamp":1643846400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009480","name":"Stichting Vrienden van het Sophia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100009480","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Congenital diaphragmatic hernia (CDH) is a congenital structural anomaly in which the diaphragm has not developed properly. It may occur either as an isolated anomaly or with additional anomalies. It is thought to be a multifactorial disease in which genetic factors could either substantially contribute to or directly result in the developmental defect. Patients with aneuploidies, pathogenic variants or <jats:italic>de novo<\/jats:italic> Copy Number Variations (CNVs) impacting specific genes and loci develop CDH typically in the form of a monogenetic syndrome. These patients often have other associated anatomical malformations. In patients without a known monogenetic syndrome, an increased genetic burden of <jats:italic>de novo<\/jats:italic> coding variants contributes to disease development. In early years, genetic evaluation was based on karyotyping and SNP-array. Today, genomes are commonly analyzed with next generation sequencing (NGS) based approaches. While more potential pathogenic variants are being detected, analysis of the data presents a bottleneck\u2014largely due to the lack of full appreciation of the functional consequence and\/or relevance of the detected variant. The exact heritability of CDH is still unknown. Damaging <jats:italic>de novo<\/jats:italic> alterations are associated with the more severe and complex phenotypes and worse clinical outcome. Phenotypic, genetic\u2014and likely mechanistic\u2014variability hampers <jats:bold><jats:italic>individual<\/jats:italic><\/jats:bold>patient diagnosis, short and long-term morbidity prediction and subsequent care strategies. Detailed phenotyping, clinical follow-up at regular intervals and detailed registries are needed to find associations between long-term morbidity, genetic alterations, and clinical parameters. Since CDH is a relatively rare disorder with only a few recurrent changes large cohorts of patients are needed to identify genetic associations. Retrospective whole genome sequencing of historical patient cohorts using will yield valuable data from which today's patients and parents will profit Trio whole genome sequencing has an excellent potential for future re-analysis and data-sharing increasing the chance to provide a genetic diagnosis and predict clinical prognosis. In this review, we explore the pitfalls and challenges in the analysis and interpretation of genetic information, present what is currently known and what still needs further study, and propose strategies to reap the benefits of genetic screening.<\/jats:p>","DOI":"10.3389\/fped.2021.800915","type":"journal-article","created":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T06:05:39Z","timestamp":1643868339000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":18,"title":["Unraveling the Genetics of Congenital Diaphragmatic Hernia: An Ongoing Challenge"],"prefix":"10.3389","volume":"9","author":[{"given":"Erwin","family":"Brosens","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina C. J.","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kim S.","family":"van Weelden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Bendixen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rutger W. W.","family":"Brouwer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Sleutels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hennie T.","family":"Bruggenwirth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilfred F. J.","family":"van Ijcken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle C. M.","family":"Veenma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzan C. M. Cochius-Den","family":"Otter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rene M. H.","family":"Wijnen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex J.","family":"Eggink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke F.","family":"van Dooren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heiko Martin","family":"Reutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robbert J.","family":"Rottier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Marco","family":"Schnater","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dick","family":"Tibboel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annelies","family":"de Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2022,2,3]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1002\/ajmg.c.30126","article-title":"Overview of epidemiology, genetics, birth defects, chromosome abnormalities associated with CDH","author":"Pober","year":"2007","journal-title":"Am J Med Genet C Semin Med Genet."},{"key":"B2","doi-asserted-by":"publisher","first-page":"955","DOI":"10.1242\/dmm.028365","article-title":"Congenital diaphragmatic hernias: from genes to mechanisms to therapies","volume":"10","author":"Kardon","year":"2017","journal-title":"Dis Models Mech."},{"key":"B3","doi-asserted-by":"publisher","first-page":"F137","DOI":"10.1136\/archdischild-2014-306174","article-title":"Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study","volume":"100","author":"McGivern","year":"2015","journal-title":"Arch Dis Child Fetal Neonatal Ed."},{"key":"B4","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1016\/S0002-9378(99)70577-6","article-title":"The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study","volume":"181","author":"Grandjean","year":"1999","journal-title":"Am J Obstetr Gynecol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1053\/j.semperi.2005.04.002","article-title":"Antenatal diagnosis of congenital diaphragmatic hernia","volume":"29","author":"Graham","year":"2005","journal-title":"Semin Perinatol."},{"key":"B6","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1046\/j.1469-0705.2002.00635.x","article-title":"Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions","volume":"19","author":"Garne","year":"2002","journal-title":"Ultrasound Obstetr Gynecol."},{"key":"B7","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1016\/j.jpedsurg.2018.04.008","article-title":"Prenatally versus postnatally diagnosed congenital diaphragmatic hernia - side, stage, and outcome","volume":"54","author":"Burgos","year":"2019","journal-title":"J Pediatric Surg."},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1097\/SLA.0000000000005113","article-title":"Congenital diaphragmatic hernia study, mortality in congenital diaphragmatic hernia: a multicenter registry study of over 5000 patients over 25 years","author":"Gupta","year":"2021","journal-title":"Ann Surg"},{"key":"B9","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/S0140-6736(21)00767-4","article-title":"Mortality from gastrointestinal congenital anomalies at 264 hospitals in 74 low-income, middle-income, and high-income countries: a multicentre, international, prospective cohort study","volume":"398","year":"2021","journal-title":"Lancet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"dmm046797","DOI":"10.1242\/dmm.046797","article-title":"Resolving the heterogeneity of diaphragmatic mesenchyme: a novel mouse model of congenital diaphragmatic hernia","volume":"14","author":"Cleal","year":"2021","journal-title":"Dis Models Mech."},{"key":"B11","doi-asserted-by":"publisher","first-page":"e16009","DOI":"10.7554\/eLife.16009","article-title":"Conditional deletion of WT1 in the septum transversum mesenchyme causes congenital diaphragmatic hernia in mice","volume":"5","author":"Carmona","year":"2016","journal-title":"Elife."},{"key":"B12","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1016\/j.ydbio.2018.04.010","article-title":"Developmental origin and morphogenesis of the diaphragm, an essential mammalian muscle","volume":"440","author":"Sefton","year":"2018","journal-title":"Dev Biol."},{"key":"B13","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/bs.ctdb.2018.12.004","article-title":"Connecting muscle development, birth defects, and evolution: an essential role for muscle connective tissue","volume":"132","author":"Sefton","year":"2019","journal-title":"Curr Top Dev Biol."},{"key":"B14","doi-asserted-by":"publisher","first-page":"804496","DOI":"10.3389\/fped.2021.804496","article-title":"Cellular origin(s) of congenital diaphragmatic hernia","volume":"9","author":"Edel","year":"2021","journal-title":"Front Pediatrics."},{"key":"B15","doi-asserted-by":"publisher","first-page":"5247","DOI":"10.1073\/pnas.1714885115","article-title":"Systematic analysis of copy number variation associated with congenital diaphragmatic hernia","volume":"115","author":"Zhu","year":"2018","journal-title":"Proc Natl Acad Sci USA."},{"key":"B16","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1093\/hmg\/ddl475","article-title":"Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia","volume":"16","author":"Scott","year":"2007","journal-title":"Human Mol Genet."},{"key":"B17","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1136\/jmedgenet-2012-101135","article-title":"De novo copy number variants are associated with congenital diaphragmatic hernia","volume":"49","author":"Yu","year":"2012","journal-title":"J Med Genet."},{"key":"B18","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1136\/jmg.2011.089680","article-title":"Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia","volume":"48","author":"Wat","year":"2011","journal-title":"J Med Genet."},{"key":"B19","doi-asserted-by":"publisher","first-page":"825","DOI":"10.1086\/513442","article-title":"Genetic factors in congenital diaphragmatic hernia","volume":"80","author":"Holder","year":"2007","journal-title":"Am J Hum Genet."},{"key":"B20","article-title":"Congenital diaphragmatic hernia overview","volume-title":"GeneReviews(\u00ae)","author":"Longoni","year":"1993"},{"key":"B21","doi-asserted-by":"publisher","first-page":"1177","DOI":"10.1016\/j.jpedsurg.2013.03.011","article-title":"Congenital diaphragmatic hernia: defect size correlates with developmental defect","volume":"48","author":"Congenital Diaphragmatic Hernia Study","year":"2013","journal-title":"J Pediatric Surg."},{"key":"B22","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1055\/s-0029-1192022","article-title":"Fetal MR lung volumetry in congenital diaphragmatic hernia (CDH): prediction of clinical outcome and the need for extracorporeal membrane oxygenation (ECMO)","volume":"221","author":"Kilian","year":"2009","journal-title":"Klinische Padiatrie."},{"key":"B23","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/S0022-3468(96)90338-3","article-title":"Sonographic predictors of survival in fetal diaphragmatic hernia","volume":"31","author":"Metkus","year":"1996","journal-title":"J Pediatric Surg."},{"key":"B24","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1002\/uog.14759","article-title":"Stomach position in prediction of survival in left-sided congenital diaphragmatic hernia with or without fetoscopic endoluminal tracheal occlusion","volume":"46","author":"Cordier","year":"2015","journal-title":"Ultrasound Obstetr Gynecol."},{"key":"B25","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1159\/000440649","article-title":"Fetal stomach position predicts neonatal outcomes in isolated left-sided congenital diaphragmatic hernia","volume":"39","author":"Basta","year":"2016","journal-title":"Fetal Diagnosis Ther."},{"key":"B26","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.siny.2008.08.010","article-title":"Antenatal prediction of lung volume and in-utero treatment by fetal endoscopic tracheal occlusion in severe isolated congenital diaphragmatic hernia","volume":"14","author":"Deprest","year":"2009","journal-title":"Semin Fetal Neonatal Med."},{"key":"B27","doi-asserted-by":"publisher","first-page":"658","DOI":"10.1002\/pd.5062","article-title":"The validity of the observed-to-expected lung-to-head ratio in congenital diaphragmatic hernia in an era of standardized neonatal treatment; a multicenter study","volume":"37","author":"Snoek","year":"2017","journal-title":"Prenatal Diagnosis."},{"key":"B28","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1159\/000512966","article-title":"Postnatal pulmonary hypertension severity predicts inpatient outcomes in congenital diaphragmatic hernia","volume":"118","author":"Ferguson","year":"2021","journal-title":"Neonatology."},{"key":"B29","doi-asserted-by":"publisher","first-page":"e413","DOI":"10.1542\/peds.2013-3367","article-title":"A clinical prediction rule for the severity of congenital diaphragmatic hernias in newborns","volume":"134","author":"Brindle","year":"2014","journal-title":"Pediatrics."},{"key":"B30","doi-asserted-by":"publisher","first-page":"4764","DOI":"10.1093\/hmg\/ddv196","article-title":"Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia","volume":"24","author":"Yu","year":"2015","journal-title":"Human Mol Genet."},{"key":"B31","doi-asserted-by":"publisher","first-page":"e20192379","DOI":"10.1542\/peds.2019-2379","article-title":"Validation of a prediction rule for mortality in congenital diaphragmatic hernia","volume":"145","author":"Cochius-den Otter","year":"2020","journal-title":"Pediatrics."},{"key":"B32","first-page":"331","article-title":"Associated malformations in cases with congenital diaphragmatic hernia","volume":"19","author":"Stoll","year":"2008","journal-title":"Genet Couns."},{"key":"B33","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1055\/s-0030-1268235","article-title":"Associated malformations in congenital diaphragmatic hernia","volume":"28","author":"Zaiss","year":"2011","journal-title":"Am J Perinatol."},{"key":"B34","doi-asserted-by":"publisher","first-page":"2020","DOI":"10.1038\/s41436-020-0908-0","article-title":"Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes","volume":"22","author":"Qiao","year":"2020","journal-title":"Genet Med."},{"key":"B35","doi-asserted-by":"publisher","first-page":"12450","DOI":"10.1073\/pnas.1412509111","article-title":"Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics","volume":"111","author":"Longoni","year":"2014","journal-title":"Proc Natl Acad Sci USA."},{"key":"B36","doi-asserted-by":"publisher","first-page":"1405","DOI":"10.3390\/genes12091405","article-title":"The role of de novo variants in patients with congenital diaphragmatic hernia","volume":"12","author":"Bendixen","year":"2021","journal-title":"Genes."},{"key":"B37","doi-asserted-by":"publisher","first-page":"923","DOI":"10.1001\/jamaoto.2015.1670","article-title":"Patterns and predictors of sensorineural hearing loss in children with congenital diaphragmatic hernia","volume":"141","author":"Amoils","year":"2015","journal-title":"JAMA Otolaryngol."},{"key":"B38","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1007\/s00431-006-0300-3","article-title":"Risk factors for sensorineural hearing loss in survivors with severe congenital diaphragmatic hernia","volume":"166","author":"Masumoto","year":"2007","journal-title":"Euro J Pediatr."},{"key":"B39","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1016\/j.jpedsurg.2015.10.082","article-title":"Prenatally diagnosed severe CDH: mortality and morbidity remain high","volume":"51","author":"Coughlin","year":"2016","journal-title":"J Pediatric Surg."},{"key":"B40","doi-asserted-by":"publisher","first-page":"1126","DOI":"10.1016\/j.jpedsurg.2021.02.032","article-title":"Incidence and outcomes of patients with congenital diaphragmatic hernia and pulmonary sequestration","volume":"56","author":"Coughlin","year":"2021","journal-title":"J Pediatric Surg."},{"key":"B41","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1038\/79226","article-title":"Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension","volume":"26","author":"Lane","year":"2000","journal-title":"Nat Genet."},{"key":"B42","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1136\/jmg.37.10.741","article-title":"Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-\u03b2 family","volume":"37","author":"Thomson","year":"2000","journal-title":"J Med Genet."},{"key":"B43","doi-asserted-by":"publisher","first-page":"1385","DOI":"10.1002\/humu.21605","article-title":"Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension","volume":"32","author":"Nasim","year":"2011","journal-title":"Human Mutation."},{"key":"B44","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1136\/jmg.2008.062703","article-title":"A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension","volume":"46","author":"Shintani","year":"2009","journal-title":"J Med Genet."},{"key":"B45","doi-asserted-by":"publisher","first-page":"e001887","DOI":"10.1161\/CIRCGEN.117.001887","article-title":"Exome sequencing in children with pulmonary arterial hypertension demonstrates differences compared with adults","volume":"11","author":"Zhu","year":"2018","journal-title":"Circul Genomic Precision Med."},{"key":"B46","doi-asserted-by":"publisher","first-page":"979","DOI":"10.1097\/SLA.0000000000002595","article-title":"Prenatal microRNA miR-200b therapy improves nitrofen-induced pulmonary hypoplasia associated with congenital diaphragmatic hernia","volume":"269","author":"Khoshgoo","year":"2019","journal-title":"Ann Surg."},{"key":"B47","doi-asserted-by":"publisher","first-page":"1130","DOI":"10.1097\/SLA.0000000000001054","article-title":"Unique tracheal fluid microrna signature predicts response to FETO in patients with congenital diaphragmatic hernia","volume":"262","author":"Pereira-Terra","year":"2015","journal-title":"Ann Surg."},{"key":"B48","doi-asserted-by":"publisher","first-page":"a022269","DOI":"10.1101\/cshperspect.a022269","article-title":"TGF-\u03b2 family signaling in connective tissue and skeletal diseases","volume":"9","author":"MacFarlane","year":"2017","journal-title":"Cold Spring Harbor Perspect Biol."},{"key":"B49","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1016\/j.ydbio.2006.09.050","article-title":"Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects","volume":"301","author":"Jay","year":"2007","journal-title":"Dev Biol."},{"key":"B50","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1007\/s00439-012-1249-0","article-title":"Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia","volume":"132","author":"Yu","year":"2013","journal-title":"Human Genet."},{"key":"B51","doi-asserted-by":"publisher","first-page":"2532","DOI":"10.1016\/j.ajpath.2016.07.006","article-title":"Polygenic causes of congenital diaphragmatic hernia produce common lung pathologies","volume":"186","author":"Donahoe","year":"2016","journal-title":"Am J Pathol."},{"key":"B52","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1016\/j.ejmg.2014.04.006","article-title":"Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations","volume":"57","author":"Brady","year":"2014","journal-title":"Euro J Med Genet."},{"key":"B53","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1002\/ajmg.a.36960","article-title":"FBN1 contributing to familial congenital diaphragmatic hernia","author":"Beck","year":"2015","journal-title":"Am J Med Genet A"},{"key":"B54","doi-asserted-by":"publisher","first-page":"rjaa604","DOI":"10.1093\/jscr\/rjaa604","article-title":"Unusual case of delayed congenital diaphragmatic hernia in Loeys-Dietz syndrome: a case report","volume":"2021","author":"Lobaton","year":"2021","journal-title":"J Surg Case Rep."},{"key":"B55","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1111\/cge.13700","article-title":"Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient","volume":"97","author":"Marsili","year":"2020","journal-title":"Clin Genet."},{"key":"B56","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1111\/j.1399-0004.2009.01165.x","article-title":"Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene","volume":"75","author":"Zaidi","year":"2009","journal-title":"Clin Genet."},{"key":"B57","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1038\/gim.2014.11","article-title":"Loeys\u2013Dietz syndrome: a primer for diagnosis and management","volume":"16","author":"MacCarrick","year":"2014","journal-title":"Genet Med."},{"key":"B58","doi-asserted-by":"publisher","first-page":"329","DOI":"10.1016\/S0735-1097(02)02699-2","article-title":"Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death?","volume":"41","author":"Yetman","year":"2003","journal-title":"J Am Coll Cardiol."},{"key":"B59","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1165\/rcmb.2009-0076OC","article-title":"Understanding abnormal retinoid signaling as a causative mechanism in congenital diaphragmatic hernia","volume":"42","author":"Clugston","year":"2010","journal-title":"Am J Respir Cell Mol Biol."},{"key":"B60","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1259\/bjr.73.868.10844860","article-title":"Congenital diaphragmatic herniation: antenatal detection and outcome","volume":"73","author":"Dillon","year":"2000","journal-title":"Br J Radiol."},{"key":"B61","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1136\/jmg.31.8.647","article-title":"Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23))","volume":"31","author":"Wolstenholme","year":"1994","journal-title":"J Med Genet."},{"key":"B62","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1016\/j.ajhg.2013.08.014","article-title":"Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia","volume":"93","author":"Srour","year":"2013","journal-title":"Am J Hum Genet."},{"key":"B63","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1086\/512203","article-title":"Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, mental retardation","volume":"80","author":"Pasutto","year":"2007","journal-title":"Am J Hum Genet."},{"key":"B64","doi-asserted-by":"publisher","first-page":"957","DOI":"10.1038\/ng2063","article-title":"Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes","volume":"39","author":"Kantarci","year":"2007","journal-title":"Nat Genet."},{"key":"B65","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1038\/s41431-017-0032-z","article-title":"Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?","volume":"26","author":"Kammoun","year":"2018","journal-title":"Euro J Human Genet."},{"key":"B66","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1159\/000497619","article-title":"Maternal risk factors and perinatal characteristics in congenital diaphragmatic hernia: a nationwide population-based study","volume":"46","author":"Mesas Burgos","year":"2019","journal-title":"Fetal Diagnosis Ther."},{"key":"B67","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1002\/bdra.20620","article-title":"Maternal obesity and morbid obesity: the risk for birth defects in the offspring","volume":"88","author":"Blomberg","year":"2010","journal-title":"Birth Defects Res."},{"key":"B68","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1001\/archpedi.161.8.745","article-title":"Prepregnancy obesity as a risk factor for structural birth defects","volume":"161","author":"Waller","year":"2007","journal-title":"Arch Pediatr Adolescent Med."},{"key":"B69","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1016\/j.jpedsurg.2013.09.025","article-title":"Maternal medical and behavioral risk factors for congenital diaphragmatic hernia","volume":"49","author":"McAteer","year":"2014","journal-title":"J Pediatric Surg."},{"key":"B70","doi-asserted-by":"publisher","first-page":"1246","DOI":"10.1001\/jamapsychiatry.2020.2453","article-title":"Maternal use of specific antidepressant medications during early pregnancy and the risk of selected birth defects","volume":"77","author":"Anderson","year":"2020","journal-title":"JAMA Psychiatry."},{"key":"B71","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1001\/archpediatrics.2009.188","article-title":"Antibacterial medication use during pregnancy and risk of birth defects: National Birth Defects Prevention Study","volume":"163","author":"Crider","year":"2009","journal-title":"Arch Pediatr Adolescent Med."},{"key":"B72","doi-asserted-by":"publisher","first-page":"191","DOI":"10.1016\/j.ajog.2007.08.044","article-title":"Antifungal drugs and the risk of selected birth defects","volume":"198","author":"Carter","year":"2008","journal-title":"Am J Obstetr Gynecol."},{"key":"B73","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.ejmg.2016.09.014","article-title":"Mycophenolate mofetil embryopathy: a newly recognized teratogenic syndrome","volume":"60","author":"Perez-Aytes","year":"2017","journal-title":"Euro J Med Genet."},{"key":"B74","doi-asserted-by":"publisher","first-page":"2212","DOI":"10.1002\/ajmg.a.36625","article-title":"Maternal exposure to methotrexate and birth defects: a population-based study","author":"Dawson","year":"2014","journal-title":"Am J Med Genet A."},{"key":"B75","doi-asserted-by":"publisher","first-page":"1399","DOI":"10.1002\/bdr2.1555","article-title":"Maternal exposure to ambient cadmium levels, maternal smoking during pregnancy, and congenital diaphragmatic hernia","volume":"111","author":"Ramakrishnan","year":"2019","journal-title":"Birth Defects Res."},{"key":"B76","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1002\/bdra.23459","article-title":"Residential agricultural pesticide exposures and risks of selected birth defects among offspring in the San Joaquin Valley of California","volume":"106","author":"Carmichael","year":"2016","journal-title":"Birth Defects Res."},{"key":"B77","doi-asserted-by":"publisher","first-page":"278","DOI":"10.1186\/s12887-021-02748-3","article-title":"Parental risk factors for congenital diaphragmatic hernia - a large German case-control study","volume":"21","author":"Schulz","year":"2021","journal-title":"BMC Pediatr."},{"key":"B78","doi-asserted-by":"publisher","first-page":"1438","DOI":"10.3109\/14767058.2013.858691","article-title":"Incidence, predictors and outcomes of congenital diaphragmatic hernia: a population-based study of 32 million births in the United States","volume":"27","author":"Balayla","year":"2014","journal-title":"J Maternal Fetal Neonatal Med."},{"key":"B79","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/bdra.20423","article-title":"Environmental factors in the etiology of esophageal atresia and congenital diaphragmatic hernia: results of a case-control study","volume":"82","author":"Felix","year":"2008","journal-title":"Birth Defects Res"},{"key":"B80","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1002\/bdra.20716","article-title":"Maternal periconceptional exposure to cigarette smoking and alcohol consumption and congenital diaphragmatic hernia","volume":"88","author":"Caspers","year":"2010","journal-title":"Birth Defects Res"},{"key":"B81","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1002\/bdra.20436","article-title":"Nutrient intakes in women and congenital diaphragmatic hernia in their offspring","volume":"82","author":"Yang","year":"2008","journal-title":"Birth Defects Res"},{"key":"B82","doi-asserted-by":"publisher","first-page":"1475","DOI":"10.1002\/bdr2.1770","article-title":"Congenital diaphragmatic hernia and maternal dietary nutrient pathways and diet quality","volume":"112","author":"Carmichael","year":"2020","journal-title":"Birth Defects Res."},{"key":"B83","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1002\/bdra.23093","article-title":"Dietary vitamin A intake below the recommended daily intake during pregnancy and the risk of congenital diaphragmatic hernia in the offspring","volume":"97","author":"Beurskens","year":"2013","journal-title":"Birth Defects Res."},{"key":"B84","doi-asserted-by":"publisher","first-page":"1295","DOI":"10.1017\/S0007114519002204","article-title":"Maternal dietary intake of vitamin A during pregnancy was inversely associated with congenital diaphragmatic hernia: the Japan Environment and Children's Study","volume":"122","author":"Michikawa","year":"2019","journal-title":"Br J Nutr."},{"key":"B85","doi-asserted-by":"publisher","first-page":"712","DOI":"10.1542\/peds.2010-0521","article-title":"Retinol status of newborn infants is associated with congenital diaphragmatic hernia","volume":"126","author":"Beurskens","year":"2010","journal-title":"Pediatrics."},{"key":"B86","doi-asserted-by":"publisher","first-page":"10604","DOI":"10.1073\/pnas.0500398102","article-title":"Epigenetic differences arise during the lifetime of monozygotic twins","volume":"102","author":"Fraga","year":"2005","journal-title":"Proc Natl Acad Sci USA."},{"key":"B87","doi-asserted-by":"publisher","first-page":"e839","DOI":"10.1038\/tp.2016.101","article-title":"Epigenetic differences in monozygotic twins discordant for major depressive disorder","volume":"6","author":"Malki","year":"2016","journal-title":"Transl Psychiatry."},{"key":"B88","doi-asserted-by":"publisher","first-page":"60","DOI":"10.1186\/s13073-014-0060-z","article-title":"Epigenetics of discordant monozygotic twins: implications for disease","volume":"6","author":"Castillo-Fernandez","year":"2014","journal-title":"Genome Med."},{"key":"B89","doi-asserted-by":"publisher","first-page":"R31","DOI":"10.1186\/gb-2014-15-2-r31","article-title":"Accounting for cellular heterogeneity is critical in epigenome-wide association studies","volume":"15","author":"Jaffe","year":"2014","journal-title":"Genome Biol."},{"key":"B90","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1186\/s13148-019-0717-y","article-title":"Systematic evaluation and validation of reference and library selection methods for deconvolution of cord blood DNA methylation data","volume":"11","author":"Gervin","year":"2019","journal-title":"Clin Epigenet."},{"key":"B91","doi-asserted-by":"publisher","first-page":"3417","DOI":"10.1038\/s41467-019-11052-9","article-title":"Cell-type-specific resolution epigenetics without the need for cell sorting or single-cell biology","volume":"10","author":"Rahmani","year":"2019","journal-title":"Nat Commun."},{"key":"B92","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1002\/ajmg.a.30904","article-title":"Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program","author":"Pober","year":"2005","journal-title":"Am J Med Genet"},{"key":"B93","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.1055\/s-0038-1676830","article-title":"Outcomes of congenital diaphragmatic hernia in one of the twins","volume":"36","author":"Wang","year":"2019","journal-title":"Am J Perinatol."},{"key":"B94","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1038\/ejhg.2011.194","article-title":"Copy number detection in discordant monozygotic twins of Congenital Diaphragmatic Hernia (CDH) and Esophageal Atresia (EA) cohorts","volume":"20","author":"Veenma","year":"2012","journal-title":"Euro J Human Genet."},{"key":"B95","doi-asserted-by":"publisher","first-page":"12354","DOI":"10.3390\/ijms222212354","article-title":"The somatic mutation paradigm in congenital malformations: hirschsprung disease as a model","volume":"22","author":"MacKenzie","year":"2021","journal-title":"Int J Mol Sci."},{"key":"B96","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1002\/bdr2.1223","article-title":"Germline but not somatic de novo mutations are common in human congenital diaphragmatic hernia","volume":"110","author":"Matsunami","year":"2018","journal-title":"Birth Defects Res."},{"key":"B97","doi-asserted-by":"publisher","first-page":"100008","DOI":"10.1101\/2020.04.03.024398","article-title":"Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias","volume":"1","author":"Bogenschutz","year":"2020","journal-title":"HGG Adv."},{"key":"B98","doi-asserted-by":"publisher","first-page":"e1007822","DOI":"10.1371\/journal.pgen.1007822","article-title":"De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders","volume":"14","author":"Qi","year":"2018","journal-title":"PLoS Genet."},{"key":"B99","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1002\/ajmg.1320570120","article-title":"Diaphragmatic hernia in Denys-Drash syndrome","volume":"57","author":"Devriendt","year":"1995","journal-title":"Am J Med Genet."},{"key":"B100","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1002\/ajmg.a.32168","article-title":"Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation","author":"Antonius","year":"2008","journal-title":"Am J Med Genet A."},{"key":"B101","doi-asserted-by":"publisher","first-page":"2312","DOI":"10.1002\/ajmg.a.31924","article-title":"WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations","author":"Suri","year":"2007","journal-title":"Am J Med Genet."},{"key":"B102","doi-asserted-by":"publisher","first-page":"1868","DOI":"10.1046\/j.1523-1755.2000.00036.x","article-title":"WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis","volume":"57","author":"Denamur","year":"2000","journal-title":"Kidney Int."},{"key":"B103","doi-asserted-by":"publisher","DOI":"10.1016\/j.amjsurg.2021.07.016","article-title":"Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, WT1 variants","author":"Schwab","year":"2021","journal-title":"Am J Surg"},{"key":"B104","doi-asserted-by":"publisher","first-page":"1964","DOI":"10.1016\/j.ajhg.2021.08.011","article-title":"Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene","volume":"108","author":"Qiao","year":"2021","journal-title":"Am J Hum Genet"},{"key":"B105","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2020-107317","article-title":"Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH","author":"Scott","year":"2021","journal-title":"J Med Genet"},{"key":"B106","doi-asserted-by":"publisher","first-page":"1081","DOI":"10.1001\/archpedi.156.11.1081","article-title":"A recurring FBN1 gene mutation in neonatal Marfan syndrome","volume":"156","author":"Jacobs","year":"2002","journal-title":"Arch Pediatr Adolesc Med."},{"key":"B107","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1007\/s00431-003-1330-8","article-title":"Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature","volume":"163","author":"Revencu","year":"2004","journal-title":"Euro J Pediatr."},{"key":"B108","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1203\/PDR.0b013e3182097219","article-title":"Prognosis factors in probands with an FBN1 mutation diagnosed before the age of 1 year","volume":"69","author":"Stheneur","year":"2011","journal-title":"Pediatric Res."},{"key":"B109","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1111\/j.1741-4520.2010.00270.x","article-title":"Brachmann-de Lange syndrome with congenital diaphragmatic hernia and NIPBL gene mutation","volume":"50","author":"Hosokawa","year":"2010","journal-title":"Congenital Anomalies."},{"key":"B110","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1002\/ajmg.1320470518","article-title":"Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: a newly recognized autosomal recessive disorder?","volume":"47","author":"Donnai","year":"1993","journal-title":"Am J Med Genet."},{"key":"B111","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1136\/jmg.2009.068403","article-title":"Phenotype and genotype in 17 patients with Goltz-Gorlin syndrome","volume":"46","author":"Maas","year":"2009","journal-title":"J Med Genet."},{"key":"B112","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1111\/j.1399-0004.2010.01554.x","article-title":"Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations","volume":"80","author":"Yano","year":"2011","journal-title":"Clin Genet."},{"key":"B113","doi-asserted-by":"publisher","first-page":"2574","DOI":"10.1002\/ajmg.a.33596","article-title":"A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia","author":"Hogue","year":"2010","journal-title":"Am J Med Genet A."},{"key":"B114","doi-asserted-by":"publisher","first-page":"151169","DOI":"10.1053\/j.semperi.2019.07.008","article-title":"The influence of genetics in congenital diaphragmatic hernia","volume":"44","author":"Yu","year":"2020","journal-title":"Semin Perinatol."},{"key":"B115","doi-asserted-by":"publisher","first-page":"1580","DOI":"10.1002\/ajmg.a.31321","article-title":"Congenital diaphragmatic hernia associated with duplication of 11q23-qter","volume":"140","author":"Klaassens","year":"2006","journal-title":"Am J Med Genet A."},{"key":"B116","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1002\/ajmg.a.36840","article-title":"Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome","author":"Goumy","year":"2015","journal-title":"Am J Med Genet A."},{"key":"B117","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1159\/000332968","article-title":"Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia","volume":"31","author":"Hendrix","year":"2012","journal-title":"Fetal Diagnosis Ther."},{"key":"B118","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1002\/ajmg.a.32896","article-title":"Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia","author":"Wat","year":"2009","journal-title":"Am J Med Genet A."},{"key":"B119","doi-asserted-by":"publisher","first-page":"3148","DOI":"10.1002\/ajmg.a.35665","article-title":"Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks","author":"Longoni","year":"2012","journal-title":"Am J Med Genet A."},{"key":"B120","doi-asserted-by":"publisher","first-page":"730","DOI":"10.1136\/jmg.2004.028787","article-title":"Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1","volume":"42","author":"Slavotinek","year":"2005","journal-title":"J Med Genet."},{"key":"B121","doi-asserted-by":"publisher","first-page":"4115","DOI":"10.1093\/hmg\/dds241","article-title":"Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1","volume":"21","author":"Wat","year":"2012","journal-title":"Human Mol Genet."},{"key":"B122","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1111\/cge.12395","article-title":"Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia","volume":"87","author":"Longoni","year":"2015","journal-title":"Clin Genet."},{"key":"B123","doi-asserted-by":"publisher","first-page":"877","DOI":"10.1086\/429842","article-title":"Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization","volume":"76","author":"Klaassens","year":"2005","journal-title":"Am J Hum Genet."},{"key":"B124","doi-asserted-by":"publisher","first-page":"2457","DOI":"10.1002\/ajmg.a.37830","article-title":"De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia","volume":"170","author":"High","year":"2016","journal-title":"Am J Med Genet A."},{"key":"B125","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/ajmg.a.31025","article-title":"Findings from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible locus for Fryns syndrome","volume":"140","author":"Kantarci","year":"2006","journal-title":"Am J Med Genet A."},{"key":"B126","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1111\/j.1399-0004.2009.01182.x","article-title":"Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia","volume":"75","author":"Slavotinek","year":"2009","journal-title":"Clin Genet."},{"key":"B127","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1097\/GIM.0b013e3181484b49","article-title":"The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome","volume":"9","author":"Shaffer","year":"2007","journal-title":"Genet Med."},{"key":"B128","doi-asserted-by":"publisher","first-page":"999","DOI":"10.1038\/sj.ejhg.5201652","article-title":"Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26","volume":"14","author":"Slavotinek","year":"2006","journal-title":"Euro J Human Genet."},{"key":"B129","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med."},{"key":"B130","doi-asserted-by":"publisher","first-page":"679","DOI":"10.1007\/s00439-017-1774-y","article-title":"Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia","volume":"136","author":"Longoni","year":"2017","journal-title":"Human Genet."},{"key":"B131","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1038\/ng.3250","article-title":"Muscle connective tissue controls development of the diaphragm and is a source of congenital diaphragmatic hernias","volume":"47","author":"Merrell","year":"2015","journal-title":"Nat Genet."},{"key":"B132","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.ydbio.2015.08.009","article-title":"Wt1 and \u03b2-catenin cooperatively regulate diaphragm development in the mouse","volume":"407","author":"Paris","year":"2015","journal-title":"Dev Biol."},{"key":"B133","doi-asserted-by":"publisher","first-page":"E1898","DOI":"10.1073\/pnas.1222797110","article-title":"Kif7 is required for the patterning and differentiation of the diaphragm in a model of syndromic congenital diaphragmatic hernia","volume":"110","author":"Coles","year":"2013","journal-title":"Proc Natl Acad Sci USA."},{"key":"B134","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1002\/bdra.20613","article-title":"Early development of the primordial mammalian diaphragm and cellular mechanisms of nitrofen-induced congenital diaphragmatic hernia","volume":"88","author":"Clugston","year":"2010","journal-title":"Birth Defects Res"},{"key":"B135","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1002\/bdra.20370","article-title":"Linking animal models to human congenital diaphragmatic hernia","volume":"79","author":"Beurskens","year":"2007","journal-title":"Birth Defects Res"},{"key":"B136","doi-asserted-by":"publisher","first-page":"991","DOI":"10.1007\/s00383-020-04705-0","article-title":"Transgenic animal models of congenital diaphragmatic hernia: a comprehensive overview of candidate genes and signaling pathways","volume":"36","author":"Nakamura","year":"2020","journal-title":"Pediatric Surg Int."},{"key":"B137","doi-asserted-by":"publisher","first-page":"14387","DOI":"10.1074\/jbc.M210144200","article-title":"Lysyl oxidase is required for vascular and diaphragmatic development in mice","volume":"278","author":"Hornstra","year":"2003","journal-title":"J Biol Chem."},{"key":"B138","doi-asserted-by":"publisher","first-page":"eabc1404","DOI":"10.1126\/sciadv.abc1404","article-title":"A matricellular protein fibulin-4 is essential for the activation of lysyl oxidase","volume":"6","author":"Noda","year":"2020","journal-title":"Sci Adv."},{"key":"B139","doi-asserted-by":"publisher","first-page":"2978","DOI":"10.1073\/pnas.1121621109","article-title":"Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes","volume":"109","author":"Russell","year":"2012","journal-title":"Proc Natl Acad Sci USA."},{"key":"B140","doi-asserted-by":"publisher","first-page":"e227","DOI":"10.1371\/journal.pbio.0060227","article-title":"Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor","volume":"6","author":"Kruse","year":"2008","journal-title":"PLoS Biol."},{"key":"B141","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1038\/ng.825","article-title":"Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes","volume":"43","author":"Engelen","year":"2011","journal-title":"Nat Genet."},{"key":"B142","doi-asserted-by":"publisher","first-page":"1026","DOI":"10.1093\/hmg\/dds507","article-title":"Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice","volume":"22","author":"Beck","year":"2012","journal-title":"Human Mol Genet."},{"key":"B143","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1159\/000320622","article-title":"Standardized postnatal management of infants with congenital diaphragmatic hernia in Europe: the CDH EURO Consortium consensus","volume":"98","author":"Reiss","year":"2010","journal-title":"Neonatology."},{"key":"B144","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1053\/jpsu.2001.20032","article-title":"Estimating disease severity of congenital diaphragmatic hernia in the first 5 minutes of life","volume":"36","year":"2001","journal-title":"J Pediatric Surg."},{"key":"B145","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1038\/s41588-020-0651-0","article-title":"Privacy challenges and research opportunities for genomic data sharing","volume":"52","author":"Bonomi","year":"2020","journal-title":"Nat Genet."},{"key":"B146","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1038\/s41576-020-0257-5","article-title":"Responsible, practical genomic data sharing that accelerates research","volume":"21","author":"Byrd","year":"2020","journal-title":"Nat Rev Genet."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.800915\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,3]],"date-time":"2022-02-03T06:05:45Z","timestamp":1643868345000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2021.800915\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,3]]},"references-count":146,"alternative-id":["10.3389\/fped.2021.800915"],"URL":"https:\/\/doi.org\/10.3389\/fped.2021.800915","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,2,3]]},"article-number":"800915"}}