John Tumbush

Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy

American Journal of Medical Genetics Part A · 2007 · 54 citations

A nonsense mutation of PEPD in four Amish children with prolidase deficiency

American Journal of Medical Genetics Part A · 2006 · 26 citations