Mutations in SBDS are associated with Shwachman–Diamond syndrome

By G. Boocock, J. Morrison, M. Popovic, Nicole Richards, L. Ellis, P. Durie, J. Rommens. Nature Genetics, 2003

772 citations recorded by the source corpus.

Subfields: Genetics, Immunology, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/bd378c10bd9e0d63437bd253356c10482f71f5c0

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Genetics

1. C. von Mering
2. Lars Juhl Jensen
3. Thomas Tuschl
4. Peer Bork
5. Emidio Capriotti

In Immunology

1. Edward M. Marcotte
2. Insuk Lee

In Molecular Biology

1. C. von Mering
2. Peer Bork
3. Lars Juhl Jensen
4. Edward M. Marcotte
5. Thomas Tuschl
6. M. Hafner
7. S. Gerstberger
8. Insuk Lee

Citations in the corpus

• A census of human RNA-binding proteins (2014, background): “Shwachman-Bodian syndrome, patients also show exocrine pancreatic dysfunction; mutation in SBDS leads to a deficit in neutrophils (Boocock et al., 2003).”
• Protein interaction networks from yeast to human. (2004, background): “Q9Y3A5 is the product of a human disease gene (Shwachman-Bodian-Diamond syndrome protein) that has been suggested to function in RNA processing [73,74].”