Maja Di Rocco

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 · 349 citations · Full text

Genetic Disorder, Pathogenesis, Nuclear Pore +8

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome

Paul Gissen, Colin A. Johnson, Neil V. Morgan et al. · Nature Genetics · 2004 · 339 citations · Full text

Arthrogryposis–renal Dysfunction–cholestasis, Renal Pathology, Pathology +6

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Manisha Balwani, François Feillet et al. · New England Journal of Medicine · 2015 · 238 citations · Full text

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Nathalie Dagoneau, Déborah Scheffer, Céline Huber et al. · The American Journal of Human Genetics · 2004 · 183 citations · Full text

Genetic Disorder, Genetics, Pathology +4

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Andrew R. Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker et al. · Nature Genetics · 2010 · 178 citations · Full text

Urology, Autoimmune Disease, Cholestasis Syndrome Phenotype +13