Karen Chong

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 228 citations · Full text

Massively Parallel Sequencing of Exons on the X Chromosome Identifies RBM10 as the Gene that Causes a Syndromic Form of Cleft Palate

Jennifer J. Johnston, Jamie K. Teer, Praveen F. Cherukuri et al. · The American Journal of Human Genetics · 2010 · 161 citations · Full text

Developmental Biology, Parallel Sequencing, Mendelian Disorder +11

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

U. Schwarze, Tim Cundy, Shawna M. Pyott et al. · Human Molecular Genetics · 2012 · 137 citations · Full text

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

John J. Mitchell, Zubin Punthakee, Bernard Lo et al. · Diabetologia · 2004 · 110 citations · Full text

Gall Bladder Hypoplasia, Diabetes, Gastroenterology +7

Fetal cardiac defects and increased nuchal translucency thickness: A prospective study

Fionnuala M. McAuliffe, Lisa K. Hornberger, Stephanie Winsor et al. · American Journal of Obstetrics and Gynecology · 2004 · 86 citations

Nuchal Translucency Thickness, Fetal Medicine, Congenital Heart Defect +7