{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T05:28:05Z","timestamp":1792042085357,"version":"4.4.0"},"reference-count":60,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2018,12,22]],"date-time":"2018-12-22T00:00:00Z","timestamp":1545436800000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Med Genet"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1002\/ajmg.c.31664","type":"journal-article","created":{"date-parts":[[2018,12,22]],"date-time":"2018-12-22T23:24:01Z","timestamp":1545521041000},"page":"440-446","source":"Crossref","is-referenced-by-count":61,"title":["The etiology of VACTERL association: Current knowledge and hypotheses"],"prefix":"10.1002","volume":"178","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8826-1023","authenticated-orcid":false,"given":"Benjamin D.","family":"Solomon","sequence":"first","affiliation":[{"name":"GeneDx; Gaithersburg Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,12,22]]},"reference":[{"issue":"6","key":"10.1002\/ajmg.c.31664-BIB0001|ajmgc31664-cit-0001","doi-asserted-by":"crossref","first-page":"1520","DOI":"10.1002\/ajmg.a.37637","article-title":"Thinking of VACTERL-H? Rule out Fanconi anemia according to PHENOS","volume":"170","author":"Alter","year":"2016","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"2","key":"10.1002\/ajmg.c.31664-BIB0002|ajmgc31664-cit-0002","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1046\/j.1440-1754.2002.00813.x","article-title":"Hedgehog in the human: A possible explanation for the VATER association","volume":"38","author":"Arsic","year":"2002","journal-title":"Journal of Paediatrics and Child Health"},{"issue":"1","key":"10.1002\/ajmg.c.31664-BIB0003|ajmgc31664-cit-0003","doi-asserted-by":"crossref","first-page":"2064","DOI":"10.1038\/s41467-018-04540-x","article-title":"Identification of rare de novo epigenetic variations in congenital disorders","volume":"9","author":"Barbosa","year":"2018","journal-title":"Nature Communications"},{"issue":"7","key":"10.1002\/ajmg.c.31664-BIB0004|ajmgc31664-cit-0004","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s00383-012-3100-z","article-title":"Inheritance of the VATER\/VACTERL association","volume":"28","author":"Bartels","year":"2012","journal-title":"Pediatric Surgery International"},{"issue":"4","key":"10.1002\/ajmg.c.31664-BIB0005|ajmgc31664-cit-0005","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1097\/MCD.0b013e328358243c","article-title":"VATER\/VACTERL association: Identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis","volume":"21","author":"Bartels","year":"2012","journal-title":"Clinical Dysmorphology"},{"issue":"5","key":"10.1002\/ajmg.c.31664-BIB0006|ajmgc31664-cit-0006","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1159\/000477429","article-title":"Genetic testing in a cohort of complex esophageal atresia","volume":"8","author":"Beauregard-Lacroix","year":"2017","journal-title":"Molecular Syndromology"},{"issue":"3","key":"10.1002\/ajmg.c.31664-BIB0007|ajmgc31664-cit-0007","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/gim.2017.142","article-title":"Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: A retrospective survey in 1,059 cases","volume":"20","author":"Bergant","year":"2018","journal-title":"Genetics in Medicine"},{"issue":"1","key":"10.1002\/ajmg.c.31664-BIB0008|ajmgc31664-cit-0008","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/(SICI)1096-8628(19970711)71:1<8::AID-AJMG2>3.0.CO;2-V","article-title":"The spectrum of congenital anomalies of the VATER association: An international study","volume":"71","author":"Botto","year":"1997","journal-title":"American Journal of Medical Genetics"},{"issue":"1-2","key":"10.1002\/ajmg.c.31664-BIB0009|ajmgc31664-cit-0009","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1159\/000345577","article-title":"Association etiology: The impact of de novo and rare copy number variations","volume":"4","author":"Brosens","year":"2013","journal-title":"Molecular Syndromology"},{"issue":"1-2","key":"10.1002\/ajmg.c.31664-BIB0010|ajmgc31664-cit-0010","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1159\/000345205","article-title":"Diabetic embryopathy: A developmental perspective from fertilization to adulthood","volume":"4","author":"Castori","year":"2013","journal-title":"Molecular Syndromology"},{"issue":"3","key":"10.1002\/ajmg.c.31664-BIB0011|ajmgc31664-cit-0011","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/bdra.20432","article-title":"VACTERL association and maternal diabetes: A possible causal relationship?","volume":"82","author":"Castori","year":"2008","journal-title":"Birth Defects Research. Part A, Clinical and Molecular Teratology"},{"issue":"5","key":"10.1002\/ajmg.c.31664-BIB0012|ajmgc31664-cit-0012","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1002\/ajmg.a.33859","article-title":"From VACTERL-H to heterotaxy: Variable expressivity of ZIC3-related disorders","volume":"155A","author":"Chung","year":"2011","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"4","key":"10.1002\/ajmg.c.31664-BIB0013|ajmgc31664-cit-0013","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1007\/BF00441773","article-title":"An aetiological study of the VACTERL-association","volume":"144","author":"Czeizel","year":"1985","journal-title":"European Journal of Pediatrics"},{"key":"10.1002\/ajmg.c.31664-BIB0014|ajmgc31664-cit-0014","first-page":"CD007950","article-title":"Effects and safety of periconceptional oral folate supplementation for preventing birth defects","volume":"12","author":"De-Regil","year":"2015","journal-title":"Cochrane Database of Systematic Reviews"},{"issue":"2","key":"10.1002\/ajmg.c.31664-BIB0015|ajmgc31664-cit-0015","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.ajhg.2017.06.010","article-title":"CRISPR\/Cas9-mediated scanning for regulatory elements required for HPRT1 expression via thousands of large, programmed genomic deletions","volume":"101","author":"Gasperini","year":"2017","journal-title":"American Journal of Human Genetics"},{"issue":"19","key":"10.1002\/ajmg.c.31664-BIB0016|ajmgc31664-cit-0016","doi-asserted-by":"crossref","first-page":"3725","DOI":"10.1093\/hmg\/ddr241","article-title":"A novel murine allele of Intraflagellar transport protein 172 causes a syndrome including VACTERL-like features with hydrocephalus","volume":"20","author":"Friedland-Little","year":"2011","journal-title":"Human Molecular Genetics"},{"issue":"7","key":"10.1002\/ajmg.c.31664-BIB0017|ajmgc31664-cit-0017","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1007\/s00383-012-3073-y","article-title":"Familial occurrence of the VATER\/VACTERL association","volume":"28","author":"Hilger","year":"2012","journal-title":"Pediatric Surgery International"},{"issue":"12","key":"10.1002\/ajmg.c.31664-BIB0018|ajmgc31664-cit-0018","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1002\/humu.22859","article-title":"Targeted Resequencing of 29 candidate genes and mouse expression studies implicate ZIC3 and FOXF1 in human VATER\/VACTERL association","volume":"36","author":"Hilger","year":"2015","journal-title":"Human Mutation"},{"issue":"1","key":"10.1002\/ajmg.c.31664-BIB0019|ajmgc31664-cit-0019","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1002\/ajmg.1320380112","article-title":"VATER and hydrocephalus: Distinct syndrome?","volume":"38","author":"Iafolla","year":"1991","journal-title":"American Journal of Medical Genetics"},{"issue":"8","key":"10.1002\/ajmg.c.31664-BIB0020|ajmgc31664-cit-0020","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1056\/NEJMoa1314432","article-title":"Somatic mutations in cerebral cortical malformations","volume":"371","author":"Jamuar","year":"2014","journal-title":"The New England Journal of Medicine"},{"issue":"1","key":"10.1002\/ajmg.c.31664-BIB0021|ajmgc31664-cit-0021","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/ajmg.1201","article-title":"VATER non-random association of congenital malformations: Study based on data from four malformation registers","volume":"101","author":"K\u00e4ll\u00e9n","year":"2001","journal-title":"American Journal of Medical Genetics"},{"issue":"1","key":"10.1002\/ajmg.c.31664-BIB0022|ajmgc31664-cit-0022","doi-asserted-by":"crossref","first-page":"1390","DOI":"10.1038\/s41467-018-03720-z","article-title":"Somatic activating mutations in MAP2K1 cause melorheostosis","volume":"9","author":"Kang","year":"2018","journal-title":"Nature Communications"},{"issue":"5","key":"10.1002\/ajmg.c.31664-BIB0023|ajmgc31664-cit-0023","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1542\/peds.71.5.815","article-title":"A population study of the VACTERL association: Evidence for its etiologic heterogeneity","volume":"71","author":"Khoury","year":"1983","journal-title":"Pediatrics"},{"issue":"7","key":"10.1002\/ajmg.c.31664-BIB0024|ajmgc31664-cit-0024","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1056\/NEJMoa1104017","article-title":"A mosaic activating mutation in AKT1 associated with the Proteus syndrome","volume":"365","author":"Lindhurst","year":"2011","journal-title":"The New England Journal of Medicine"},{"issue":"11","key":"10.1002\/ajmg.c.31664-BIB0025|ajmgc31664-cit-0025","doi-asserted-by":"crossref","first-page":"2594","DOI":"10.1002\/ajmg.a.37257","article-title":"Sonic hedgehog, VACTERL, and Fanconi anemia: Pathogenetic connections and therapeutic implications","volume":"167A","author":"Lubinsky","year":"2015","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"6","key":"10.1002\/ajmg.c.31664-BIB0026|ajmgc31664-cit-0026","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1007\/s10815-018-1197-2","article-title":"An epigenetic association of malformations, adverse reproductive outcomes, and fetal origins hypothesis related effects","volume":"35","author":"Lubinsky","year":"2018","journal-title":"Journal of Assisted Reproduction and Genetics"},{"issue":"2","key":"10.1002\/ajmg.c.31664-BIB0027|ajmgc31664-cit-0027","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/(SICI)1096-8628(19990312)83:2<117::AID-AJMG7>3.0.CO;2-4","article-title":"Congenital malformations in twins: An international study","volume":"83","author":"Mastroiacovo","year":"1999","journal-title":"American Journal of Medical Genetics"},{"issue":"4","key":"10.1002\/ajmg.c.31664-BIB0028|ajmgc31664-cit-0028","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/(SICI)1096-8628(19980401)76:4<291::AID-AJMG3>3.0.CO;2-T","article-title":"Errors of morphogenesis and developmental field theory","volume":"76","author":"Mart\u00ednez-Fr\u00edas","year":"1998","journal-title":"American Journal of Medical Genetics"},{"issue":"5","key":"10.1002\/ajmg.c.31664-BIB0029|ajmgc31664-cit-0029","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"American Journal of Human Genetics"},{"issue":"1-2","key":"10.1002\/ajmg.c.31664-BIB0030|ajmgc31664-cit-0030","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1159\/000345725","article-title":"Sonic hedgehog signaling and VACTERL association","volume":"4","author":"Ngan","year":"2013","journal-title":"Molecular Syndromology"},{"issue":"1","key":"10.1002\/ajmg.c.31664-BIB0031|ajmgc31664-cit-0031","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1080\/00039896.1975.10666626","article-title":"A syndrome of multiple congenital anomalies associated with teratogenic exposure","volume":"30","author":"Nora","year":"1975","journal-title":"Archives of Environmental Health"},{"issue":"9","key":"10.1002\/ajmg.c.31664-BIB0032|ajmgc31664-cit-0032","doi-asserted-by":"crossref","first-page":"1173","DOI":"10.1002\/humu.23565","article-title":"Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders","volume":"39","author":"Overwater","year":"2018","journal-title":"Human Mutation"},{"issue":"2","key":"10.1002\/ajmg.c.31664-BIB0033|ajmgc31664-cit-0033","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.ajhg.2013.06.013","article-title":"XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing","volume":"93","author":"Piton","year":"2013","journal-title":"American Journal of Human Genetics"},{"key":"10.1002\/ajmg.c.31664-BIB0034|ajmgc31664-cit-0034","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/S0022-3476(73)80024-1","article-title":"The VATER association. Vertebral defects, anal atresia, T-E fistula with esophageal atresia, radial and renal dysplasia: A spectrum of associated defects","volume":"82","author":"Quan","year":"1973","journal-title":"The Journal of Pediatrics"},{"issue":"1","key":"10.1002\/ajmg.c.31664-BIB0035|ajmgc31664-cit-0035","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.ejmg.2010.09.007","article-title":"Long-term outcomes of adults with features of VACTERL association","volume":"54","author":"Raam","year":"2011","journal-title":"European Journal of Medical Genetics"},{"issue":"7","key":"10.1002\/ajmg.c.31664-BIB0036|ajmgc31664-cit-0036","doi-asserted-by":"crossref","first-page":"696","DOI":"10.1038\/gim.2015.148","article-title":"Clinical application of whole-exome sequencing across clinical indications","volume":"18","author":"Retterer","year":"2016","journal-title":"Genetics in Medicine"},{"issue":"4","key":"10.1002\/ajmg.c.31664-BIB0037|ajmgc31664-cit-0037","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1002\/(SICI)1096-8628(19960628)63:4<529::AID-AJMG4>3.0.CO;2-J","article-title":"VACTERL association, epidemiologic definition and delineation","volume":"63","author":"Rittler","year":"1996","journal-title":"American Journal of Medical Genetics"},{"issue":"1","key":"10.1002\/ajmg.c.31664-BIB0038|ajmgc31664-cit-0038","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/ajmg.c.30236","article-title":"The molecular genetics of holoprosencephaly","volume":"154C","author":"Roessler","year":"2010","journal-title":"American Journal of Medical Genetics. Part C, Seminars in Medical Genetics"},{"issue":"11","key":"10.1002\/ajmg.c.31664-BIB0039|ajmgc31664-cit-0039","doi-asserted-by":"crossref","first-page":"2563","DOI":"10.1002\/ajmg.a.37234","article-title":"Is VACTERL a laterality defect?","volume":"167A","author":"Sadler","year":"2015","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"6","key":"10.1002\/ajmg.c.31664-BIB0040|ajmgc31664-cit-0040","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1038\/ki.2013.417","article-title":"Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association","volume":"85","author":"Saisawat","year":"2014","journal-title":"Kidney International"},{"key":"10.1002\/ajmg.c.31664-BIB0041|ajmgc31664-cit-0041","unstructured":"Shashi V Schoch K Spillmann R Cope H Tan QK Walley N Pena L McConkie-Rosell A Jiang YH Stong N Need AC Goldstein DB Undiagnosed Diseases Network Genetics in Medicine 2018"},{"issue":"7","key":"10.1002\/ajmg.c.31664-BIB0042|ajmgc31664-cit-0042","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1136\/jmg.2005.038158","article-title":"Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: Review of genetics and epidemiology","volume":"43","author":"Shaw-Smith","year":"2006","journal-title":"Journal of Medical Genetics"},{"issue":"6","key":"10.1002\/ajmg.c.31664-BIB0043|ajmgc31664-cit-0043","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1056\/NEJMoa1616361","article-title":"NAD deficiency, congenital malformations, and niacin supplementation","volume":"377","author":"Shi","year":"2017","journal-title":"The New England Journal of Medicine"},{"issue":"1-2","key":"10.1002\/ajmg.c.31664-BIB0044|ajmgc31664-cit-0044","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1159\/000346301","article-title":"Mitochondrial factors and VACTERL association-related congenital malformations","volume":"4","author":"Siebel","year":"2013","journal-title":"Molecular Syndromology"},{"issue":"3","key":"10.1002\/ajmg.c.31664-BIB0045|ajmgc31664-cit-0045","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/j.jpeds.2013.10.086","article-title":"An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association","volume":"164","author":"Solomon","year":"2014","journal-title":"The Journal of Pediatrics"},{"issue":"12","key":"10.1002\/ajmg.c.31664-BIB0046|ajmgc31664-cit-0046","doi-asserted-by":"crossref","first-page":"3087","DOI":"10.1002\/ajmg.a.35638","article-title":"Clinical geneticists' views of VACTERL\/VATER association","volume":"158A","author":"Solomon","year":"2012","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"4","key":"10.1002\/ajmg.c.31664-BIB0047|ajmgc31664-cit-0047","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1002\/mgg3.221","article-title":"A 2.5-year snapshot of Mendelian discovery","volume":"4","author":"Solomon","year":"2016","journal-title":"Molecular Genetics & Genomic Medicine"},{"issue":"1-2","key":"10.1002\/ajmg.c.31664-BIB0048|ajmgc31664-cit-0048","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1159\/000345406","article-title":"NISC comparative sequencing program. Exome sequencing and high-density microarray testing in monozygotic twin pairs discordant for features of VACTERL association","volume":"4","author":"Solomon","year":"2013","journal-title":"Molecular Syndromology"},{"issue":"9","key":"10.1002\/ajmg.c.31664-BIB0049|ajmgc31664-cit-0049","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1002\/bdra.20821","article-title":"De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene","volume":"91","author":"Solomon","year":"2011","journal-title":"Birth Defects Research. Part A, Clinical and Molecular Teratology"},{"issue":"9","key":"10.1002\/ajmg.c.31664-BIB0050|ajmgc31664-cit-0050","doi-asserted-by":"crossref","first-page":"2236","DOI":"10.1002\/ajmg.a.33572","article-title":"Analysis of component findings in 79 patients diagnosed with VACTERL association","volume":"152A","author":"Solomon","year":"2010","journal-title":"American Journal of Medical Genetics. Part A"},{"issue":"6","key":"10.1002\/ajmg.c.31664-BIB0051|ajmgc31664-cit-0051","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1007\/s00439-010-0814-7","article-title":"Evidence for inheritance in patients with VACTERL association","volume":"127","author":"Solomon","year":"2010","journal-title":"Human Genetics"},{"issue":"2","key":"10.1002\/ajmg.c.31664-BIB0052|ajmgc31664-cit-0052","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.cell.2012.02.054","article-title":"A mechanism for gene-environment interaction in the etiology of congenital scoliosis","volume":"149","author":"Sparrow","year":"2012","journal-title":"Cell"},{"issue":"6","key":"10.1002\/ajmg.c.31664-BIB0053|ajmgc31664-cit-0053","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1016\/j.ajhg.2009.05.005","article-title":"Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations","volume":"84","author":"Stankiewicz","year":"2009","journal-title":"American Journal of Human Genetics"},{"issue":"1-2","key":"10.1002\/ajmg.c.31664-BIB0054|ajmgc31664-cit-0054","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1159\/000346192","article-title":"Considering the Embryopathogenesis of VACTERL association","volume":"4","author":"Stevenson","year":"2013","journal-title":"Molecular Syndromology"},{"issue":"4","key":"10.1002\/ajmg.c.31664-BIB0055|ajmgc31664-cit-0055","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1038\/gim.2017.114","article-title":"High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders","volume":"20","author":"Stosser","year":"2018","journal-title":"Genetics in Medicine"},{"issue":"3","key":"10.1002\/ajmg.c.31664-BIB0056|ajmgc31664-cit-0056","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1016\/S0022-3476(74)80113-7","article-title":"Extending the scope of the VATER association: Definition of the VATER syndrome","volume":"85","author":"Temtamy","year":"1974","journal-title":"The Journal of Pediatrics"},{"issue":"3","key":"10.1002\/ajmg.c.31664-BIB0057|ajmgc31664-cit-0057","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1111\/cge.13144","article-title":"Detection of copy number variations in epilepsy using exome data","volume":"93","author":"Tsuchida","year":"2018","journal-title":"Clinical Genetics"},{"issue":"2","key":"10.1002\/ajmg.c.31664-BIB0058|ajmgc31664-cit-0058","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1002\/1096-8628(20010115)98:2<137::AID-AJMG1022>3.0.CO;2-5","article-title":"Distal 13q deletion syndrome and the VACTERL association: Case report, literature review, and possible implications","volume":"98","author":"Walsh","year":"2001","journal-title":"American Journal of Medical Genetics"},{"issue":"3","key":"10.1002\/ajmg.c.31664-BIB0059|ajmgc31664-cit-0059","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1001\/archpedi.1986.02140170051027","article-title":"The VATER association. Analysis of 46 patients","volume":"140","author":"Weaver","year":"1986","journal-title":"American Journal of Diseases of Children"},{"issue":"13","key":"10.1002\/ajmg.c.31664-BIB0060|ajmgc31664-cit-0060","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1002\/bdr2.1042","article-title":"Array-based molecular karyotyping in 115 VATER\/VACTERL and VATER\/VACTERL-like patients identifies disease-causing copy number variations","volume":"109","author":"Zhang","year":"2017","journal-title":"Birth Defects Research"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.c.31664","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/ajmg.c.31664\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,8]],"date-time":"2022-09-08T20:03:06Z","timestamp":1662667386000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31664"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12]]},"references-count":60,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2018,12]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31664","archive":["Portico"],"relation":{},"ISSN":["1552-4868"],"issn-type":[{"value":"1552-4868","type":"print"}],"subject":[],"published":{"date-parts":[[2018,12]]}}}