2016
DOI: 10.1038/ejhg.2016.86
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Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

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Cited by 29 publications
(30 citation statements)
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“…Furthermore, the herereported Patient 7 with anorectal malformation and esophagus anomalies inherited a microdeletion of chromosomal region 7q35 from her father. Of interest, this deletion shows complete physical overlap with the pathogenic de novo distal 7q deletion in a patient with "V, A, TE" presented by Brosens et al (2016) (Supporting Fig. S3).…”
Section: Discussionmentioning
confidence: 91%
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“…Furthermore, the herereported Patient 7 with anorectal malformation and esophagus anomalies inherited a microdeletion of chromosomal region 7q35 from her father. Of interest, this deletion shows complete physical overlap with the pathogenic de novo distal 7q deletion in a patient with "V, A, TE" presented by Brosens et al (2016) (Supporting Fig. S3).…”
Section: Discussionmentioning
confidence: 91%
“…The herereported patient 20 (McDonald-McGinn et al, 2015) presented with the recurrent 22q11.21 microdeletion and a VATER/VACTERL-like phenotype comprising an anorectal malformation and renal anomalies. Both, anorectal malformations and renal anomalies were repeatedly reported in patients with 22q11.2 microdeletion or microduplication syndrome (Worthington et al, 1997;Schramm et al, 2011;No€ el et al, 2014;Brosens et al, 2016). For the two microduplications published by Schramm et al (2011) andBrosens et al (2016) the exact physical size of the CNV was available.…”
Section: Discussionmentioning
confidence: 99%
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“…ROH regions had to contain at least 50 probes and be larger than 1 Mb in size in line with established criteria (48,49). CNVs were profiled according to previously described prioritization methods (50). To determine the consanguinity coefficient (f) and the inbreeding coefficient (F), we used the genomic oligoarray and SNP-array evaluation tool v3.0 (51) and a 50 probes minimum for ROH region.…”
Section: Discussionmentioning
confidence: 99%