• 1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype
• A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype
• A new syndrome: congenital thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay
• Abnormal liver function tests and improved survival in a child with splice mutation TARP syndrome
• Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1
• Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype
• Immune deficiencies in chronic intestinal pseudo-obstruction
• Jacobsen syndrome, Braddock-Carey syndrome, and Beyond: Reflections on intellectual disability accompanied with thrombocytopenia
• Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy
• Skeletal anomalies in genetically determined congenital heart disease