… On the basis of etiologic criteria ( Table I ), primary malformations are morphogenetic
defects arising from intrinsic errors of developmental process with genetic origin; disruptions (…

… de novo gene disrupting and deleterious missense variants in 21% of the infants with multiple
malformations including CDH and in 12% of infants with isolated congenital diaphragmatic …

… Nine of 10 breakpoints occurred in repetitive elements and five genes were disrupted in …
patients, gene disruption could account for the phenotype, allowing adapted genetic counselling …

… The variants affect normal embryonic development by disrupting the synthesis of NAD, …
congenital malformations caused by NAD deficiency can occur independent of genetic disruption …

… in humans that are caused by genetic mutations or teratogenic effects resulting either in …
alterations and disrupted gene networks that underlie human congenital limb malformations. …

… of the gene's chromosomal segment. Thus, when either the cis–trans regulatory system of
a gene or the normal context of its chromatin structure are disrupted, gene expression may be …

… CNV distribution was significantly skewed toward larger gene-disrupting events in RHD …
Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from …

… in the discovery of causative genes for syndromic heart malformations and in rare families …
as major contributors to congenital heart defects is also notable. The genes identified encode …

… malformation. Our discovery that the genetic disruption of NAD synthesis causes congenital
malformations suggests that mutation of many genes might have the same effect (Fig. S1 in …

… of congenital malformations. We still cannot provide the families of children with malformations
… amputation, probably as a result of vascular disruption, cause unknown. Known causes of …