Purpose Genetic testing is an integral diagnostic component of pediatric medicine. Standard
of care is often a time-consuming stepwise approach involving chromosomal microarray …

Loeys–Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and
arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical …

The standard of care for first-tier clinical investigation of the aetiology of congenital malformations
and neurodevelopmental disorders is chromosome microarray analysis (CMA) for copy…

Beckwith–Wiedemann Syndrome (BWS) results from mutations or epigenetic events involving
imprinted genes at 11p15. 5. Most BWS cases are sporadic and uniparental disomy (UPD) …

BACKGROUND: Recent reports have suggested a higher risk of Beckwith–Wiedemann
syndrome (BWS) and Angelman syndrome (AS) after assisted reproductive technologies (ARTs), …

Background: Implicit in the genetic evaluation of patients with suspected genetic diseases is
the assumption that the genes evaluated are causative for the disease based on robust …

We have developed P heno T ips: open source software for collecting and analyzing
phenotypic information for patients with genetic disorders. Our software combines an easy‐to‐use …

BACKGROUND Beckwith–Wiedemann syndrome (BWS) is a model imprinting disorder
resulting from mutations or epigenetic events affecting imprinted genes at 11p15.5. Most BWS …

BACKGROUND Genomic imprinting is an epigenetic process in which allele-specific gene
expression is dependent on the parental inheritance. Although only a minority of human …

Purpose With growing evidence that rare single gene disorders present in the neonatal period,
there is a need for rapid, systematic, and comprehensive genomic diagnoses in ICUs to …