Susanna Freddi

Mutations ofCOL10A1 in Schmid metaphyseal chondrodysplasia

John F. Bateman, Richard Wilson, Susanna Freddi et al. · Human Mutation · 2005 · 74 citations

Misfolding of Collagen X Chains Harboring Schmid Metaphyseal Chondrodysplasia Mutations Results in Aberrant Disulfide Bond Formation, Intracellular Retention, and Activation of the Unfolded Protein Response

Richard Wilson, Susanna Freddi, Danny Chan et al. · Journal of Biological Chemistry · 2005 · 66 citations · Full text

Regenerative Medicine, Fibrosis, Intracellular Retention +14

Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability

John F. Bateman, Susanna Freddi, Shireen R. Lamand� et al. · Human Mutation · 1999 · 61 citations

Genetics, Molecular Biology, Nonsense-mediated Mrna Instability +16

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.

Susanna Freddi, Ravi Savarirayan, John F. Bateman · PubMed · 2000 · 54 citations

Molecular Diagnosis, Type 1, Rna Processing +15

Molecular diagnosis of Stickler syndrome: ACOL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability

Susanna Freddi, Ravi Savarirayan, John F. Bateman · American Journal of Medical Genetics · 2000 · 42 citations

Genetics, Pathology, Molecular Genetics +16