Susanna Freddi - Concepedia

Author

Susanna Freddi

Royal Children's Hospital

Also Known As

S FREDDI, S Freddi, S. Freddi, Susanna Freddi

Publications

515

Citations

H-Index

Concepts

All Affiliations

Royal Children's Hospital The University of Melbourne Murdoch Children's Research Institute Victorian Clinical Genetics Services Women's and Children's Hospital

About

Susanna Freddi is an author at Royal Children's Hospital specializing in medicine, cell biology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	314
2	Cell Biology	5	5	257
3	Natural Sciences	2	2	93
4	Immunology	2	2	59
5	Public Health	1	1	25

Susanna Freddi

Publications

504

Citations

H-Index

Page 1

	Year	Citations
Mutations ofCOL10A1 in Schmid metaphyseal chondrodysplasia John F. Bateman, Richard Wilson, Susanna Freddi, Human Mutation	2005	74
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, Journal of Biological Chemistry Regenerative MedicineFibrosisIntracellular RetentionBone BiologyBone Morphogenic Protein	2005	66
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�, Human Mutation GeneticsMolecular BiologyNonsense-mediated Mrna InstabilityNucleic Acid Amplification TestMolecular Genetics	1999	61
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 Molecular DiagnosisType 1Rna ProcessingMendelian DisorderGenetic Disorder	2000	54
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 GeneticsPathologyMolecular GeneticsDisease Gene IdentificationSplicing Variant	2000	42
Collagen X Chains Harboring Schmid Metaphyseal Chondrodysplasia NC1 Domain Mutations Are Selectively Retained and Degraded in Stably Transfected Cells Richard Wilson, Susanna Freddi, John F. Bateman Journal of Biological Chemistry	2002	39
CD39 and CD73 activity are protective in a mouse model of antiphospholipid antibody-induced miscarriages Anushka Nilesh Samudra, Karen M. Dwyer, Carly Selan, Journal of Autoimmunity Molecular ImmunologyAntiphospholipid Antibody-induced MiscarriagesImmunologyCell DeathImmunologic Mechanism	2017	34
Interaction of Collagen α1(X) Containing Engineered NC1 Mutations with Normal α1(X) in Vitro Danny Chan, Susanna Freddi, Yi Ma Weng, Journal of Biological Chemistry	1999	32
Competency for Nonsense-Mediated Reduction in Collagen X mRNA Is Specified by the 3′ UTR and Corresponds to the Position of Mutations in Schmid Metaphyseal Chondrodysplasia Jacqueline Tan, Friederike Kremer, Susanna Freddi, The American Journal of Human Genetics Nonsense-mediated ReductionTranscriptional RegulationDevelopmental BiologyMendelian DisorderGenetic Disorder	2008	32
Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly John F. Bateman, Susanna Freddi, Robyn McNeil, Human Mutation	2004	26

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