Deborah K Schelling

Author PubWeight™ 4.03‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Clinical and molecular findings in osteoporosis-pseudoglioma syndrome. Am J Hum Genet 2005 1.52
2 Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 2009 1.47
3 Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing. J Biol Chem 2005 1.08