Élisabeth Soubry
A5031775017- Genomics and Rare Diseases
- Genetic factors in colorectal cancer
- Cardiovascular Function and Risk Factors
- Congenital heart defects research
- Congenital Heart Disease Studies
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
Children's Hospital of Eastern Ontario
2022-2024
KU Leuven
2024
Abstract Introduction and objective Patients with the 22q11.2 deletion syndrome (22q11DS) frequently display cardiological psychiatric diseases, but are also at increased risk for endocrine manifestations. The aim of this study was to evaluate screening, prevalence, management hypoparathyroidism thyroid disease in patients 22q11DS, metabolic profile, compare these results current literature guidelines. Design We performed a retrospective genetically confirmed followed center human genetics...
We examined the utility of clinical and research processes in reanalysis publicly-funded exome sequencing data Ontario, Canada. In partnership with eight sites, we recruited 287 families suspected rare genetic diseases tested between 2014 2020. Data from seven laboratories was reanalyzed referring clinicians. Reanalysis clinically relevant genes identified diagnoses 4% (13/287); four were missed by testing. Translational methods, including analysis novel candidate genes, candidates 21%...
Accurate diagnosis is the cornerstone of medicine. This particular relevance to rare genetic diseases (RGD) in which an accurate molecular can enable understanding their cause, progression, and familial risks. Advances technologies may offer improvement diagnostic yield.