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List of works by Colleen A Campbell

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Binding of the non-typeable Haemophilus influenzae lipooligosaccharide to the PAF receptor initiates host cell signalling.

scientific article published on August 2001

Collaborative Counseling Considerations for Pharmacogenomic Tests

scientific article published on 3 July 2017

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

scientific article published on 11 March 2016

DNM1 encephalopathy: A new disease of vesicle fission

scientific article

Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness

scientific article

Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's disease in a European Caucasian population.

scientific article published on 25 May 2011

Gene expression profiling analysis of the inner ear.

scientific article

Gonococcal lipooligosaccharide is a ligand for the asialoglycoprotein receptor on human sperm.

scientific article published on June 2000

Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency.

scientific article published on 25 April 2016

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.

scientific article

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder

scientific article

Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population

scientific article

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

scientific article published on 08 May 2016

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.

scientific article

The role of patient engagement in personalized healthcare

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