Deborah K. Schelling

Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

Derek Neilson, Mark D. Adams, Caitlin M.D. Orr et al. · The American Journal of Human Genetics · 2009 · 355 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Clinical and Molecular Findings in Osteoporosis-Pseudoglioma Syndrome

Minrong Ai, Shauna Heeger, Cynthia F. Bartels et al. · The American Journal of Human Genetics · 2005 · 179 citations · Full text

Medicine, Neurology, Oncology +14

Consequences of Disease-causing Mutations on Lubricin Protein Synthesis, Secretion, and Post-translational Processing

David K. Rhee, José Roberto Marcelino, Sulaiman M. Al‐Mayouf et al. · Journal of Biological Chemistry · 2005 · 80 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

Otitis Media in a New Mouse Model for CHARGE Syndrome with a Deletion in the Chd7 Gene

Cong Tian, Heping Yu, Bin Yang et al. · PLoS ONE · 2012 · 30 citations · Full text

Medicine, Genetics, Otolaryngology +16