Disease: Warburton Anyane Yeboa syndrome
- Coding mutations in p57KIP2 are present in some cases of Beckwith-Wiedemann syndrome but are rare or absent in Wilms tumors
- Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
- Mosaic tetrasomy 12p: four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister-Mosaic syndrome cases
- Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?
- Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth
- The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease
- The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
- The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature
- Wilms tumor accompanied by premature chromatid separation