Publication & Citation Trends
Publications
0 total
ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes
Cited by 0
Semantic Scholar
A comprehensive approach to evaluating the clinical utility of genome sequencing in rare disease: A large prospective Canadian cohort.
Cited by 0
Semantic Scholar
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi‐Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study
Cited by 0
Semantic Scholar
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticist
Cited by 0
Semantic Scholar
Integrating paediatric subspecialists into the delivery of genomic medicine: A qualitative study
Cited by 0
Semantic Scholar
Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants OA
Cited by 3
Semantic Scholar
Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?
Cited by 1
Semantic Scholar
Research Topics
Genomics and Rare Diseases
(51)
Genomic variations and chromosomal abnormalities
(29)
Genetic factors in colorectal cancer
(14)
Genetics and Neurodevelopmental Disorders
(14)
Cancer Genomics and Diagnostics
(12)
Affiliations
Hudson Institute
University of Ottawa
University of Queensland
Délégation Paris 7
University of Pittsburgh