Robbie Davies's research while affiliated with University of Ottawa and other places

Publications (15)

Article
Full-text available
Cell transplantation for regenerative medicine has become an appealing therapeutic method; however, stem and progenitor cells are not always freshly available. Cryopreservation offers a way to freeze cells as they are generated, for storage and transport until required for therapy. This study was performed to assess the feasibility of cryopreservin...
Data
CNV Regions enriched in LS-CHD cohort. A fitted logistic regression model in SAS 9.2 using PROC GLIMMIX conditional on pedigree membership for each CNV with family as a random effect and the number of copies of CNVs as a fixed effect was used. P-values less than 0.05 and those significant after Bonferroni correction were taken. (XLSX)
Data
SAGE analysis for genes identified in the LS-CHD cohort. The mouse homologues for the human genes intersecting rare CNVs were filter for enriched expression in the outflow tract versus ventricle and atrium in developing mouse hearts. (XLSX)
Data
CNV identification workflow. The combination of Birdsuite 1.5.5 and GTC 3.0.2 revealed a total of 7087 CNV calls in the merge procedure of the LS-CHD cohort and 20708 in OHI-cohort. (EPS)
Data
CNV identification workflow. Hierarchical logistic regression together with principal component analysis(PCA) and selection of unique CNV calls in the affected identified 3 enriched pools of CNVs and 110 autosomal and sex-chromosomal CNVs. 27 CNVs calls have been independently verified either by QPCR or by Fish. 73 Unique calls in the affected of t...
Data
Full list of unique inherited and de novo CNV identified in affected individuals with LS-CHD using stringent selection criteria. (XLSX)
Data
CNV burden and de novo transmission rate. The CNV burden (number of autosomal CNVs, number of segments/sample, average segment size, and number of genes spanned by CNV) is given for affecteds and unaffecteds. De novo CNVs were determined within all available trios of examined families. (XLSX)
Data
Endeavour prioritization list for the LS-CHD cohort. The enriched angiogenesis dataset was used to prioritize candidate genes for LS-CHD pathogenesis to generate a global ranking using order statistics. (XLSX)
Data
Clinical characteristics of all affected individuals in the LS-CHD cohort with a rare CNV. Abnormal echocardiographic or electrocardiographic results are recorded. (XLSX)
Data
CNV Regions enriched after adjusting for family structure and comparison with OHI cohort. The first and the second component of the PCA were used in the regression analysis to adjust for family structure in the identification of enriched CNV regions. (XLSX)
Data
Pathway analysis. An empirical significance test based on a regression framework was used for enrichment testing of the LS-CHD pathway genes relative to all and all genic CNVs. (XLSX)
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LS-CHD related gene subsets for enrichment test. Gene subsets for key processes involved in LS-CDH were downloaded from Ingenuity. (XLSX)
Article
Full-text available
Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology. Although left-sided CHD is known to be highly heritable, the underlying genetic determinants ar...
Article
Background : Coronary artery disease (CAD) is the leading cause of death in the western world. The only common genetic risk locus identified to date by us and others in genome wide association studies (GWAS) resides at 9p21.3. Methods: The Ottawa Heart Genomic Study compared genotypes of 1,542 early onset CAD patients (average 49y) and 1,455 elderl...

Citations

... All tissue samples were sectioned and randomly allocated to immediate cell culture (fresh tissue), immediate cryopreservation or delayed cryopreservation after 24 hours of refrigeration (4˚C) in cardioplegia solution (lactated ringers, 2% St Thomas solution, 5 mEq NaHCO3 and 10 mEq KCl; Thermo Fisher Scientific). Tissue samples were cryopreserved to -80˚C within 5% dimethyl sulfoxide, 6% fetal bovine serum within Iscove's Modified Dulbecco's Medium [9]. One month later, cryopreserved tissue specimen vials were recovered in a 37˚C water bath prior to processing. ...
... [3][4][5][6][7][8][9]. Similar rates were reported for postnatal CMA (4-20%), but the cohorts tested were fewer and smaller [10][11][12][13][14][15]. The yield varies according to the specific malformation, the presence of other extracardiac malformations and other abnormal phenotypes, and additional factors such as family history. ...