Gain-of-function SOS1 mutations cause a distinctive form of noonan syndrome (2006)
Tartaglia, Marco, Pennacchio, Len A., Zhao, Chen, Yadav, Kamlesh K., Fodale, Valentina, Sarkozy, Anna, ...
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies1. Increased RAS-mitogenactivated protein kinase...
Medical Sequencing at the extremes of Human Body Mass (2006)
Ahituv, Nadav, Kavaslar, Nihan, Schackwitz, Wendy, Ustaszewski, Anna, Martin, Joes, Hebert, Sybil, ...
Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58...