Genomes and Genes
Michael O Woods
Affiliation: Memorial University of Newfoundland
- Autosome-wide copy number variation association analysis for rheumatoid arthritis using the WTCCC high-density SNP genotype dataMohammed Uddin
St Clare s Mercy Hospital, 154 LeMarchant Road, St John s, Newfoundland, Canada
J Rheumatol 38:797-801. 2011..We set out to identify genes affected by CNV that are associated with RA at a genome-wide level...
- High frequency of hereditary colorectal cancer in Newfoundland likely involves novel susceptibility genesMichael O Woods
Discipline of Genetics, Department of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland, Canada
Clin Cancer Res 11:6853-61. 2005..Our purpose was to determine the proportion of hereditary colorectal cancer and to determine the genetic basis of disease in both population and clinically referred cohorts from Newfoundland...
- The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndromeSusan Stuckless
Department of Clinical Epidemiology, Faculty of Medicine, Memorial University of Newfoundland, St John s, NL, Canada
Fam Cancer 6:1-12. 2007..The incidence of CRC in MSH2 mutation carriers, exposed to the same environment, is not modified by the specific mutation, although there is a suggestion that type of mutation may influence development of some extracolonic cancers...
- The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial diseaseM O Woods
Discipline of Genetics, Health Sciences Centre, St John s, Newfoundland, Canada
Gut 59:1369-77. 2010....
- A new variant database for mismatch repair genes associated with Lynch syndromeMichael O Woods
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland, Canada
Hum Mutat 28:669-73. 2007..med.mun.ca/MMRvariants; last accessed 8 February 2007). Providing such a resource should aid investigators in understanding the significance of the variants...
- Prediction of Lynch syndrome in consecutive patients with colorectal cancerRoger C Green
Department of Genetics, Faculty of Medicine, Memorial University, St John s, Newfoundland, Canada A1B 3V6
J Natl Cancer Inst 101:331-40. 2009..We used data from such patients to test the ability of four models--Leiden, MMRpredict, PREMM(1,2), and MMRpro--to distinguish between those who did and did not carry DNA mismatch repair gene mutations...
- Increased cancer predisposition in family members of colorectal cancer patients harboring the p.V600E BRAF mutation: a population-based studyTyler A Wish
Health Sciences Centre, 300 Prince Philip Drive, St John s, NL A1B3V6, Canada
Cancer Epidemiol Biomarkers Prev 19:1831-9. 2010..The objective of this study is to characterize the cancer family history and clinicopathologic features of colorectal cancer (CRC) patients according to the microsatellite instability (MSI) and BRAF mutation status of their tumors...
- Inherited deleterious variants in GALNT12 are associated with CRC susceptibilityErica Clarke
Discipline of Genetics, Memorial University, St John s, Newfoundland, Canada
Hum Mutat 33:1056-8. 2012....
- Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeBridget A Fernandez
Discipline of Genetics, Memorial University of Newfoundland, Health Sciences Centre, St John s, Newfoundland and Labrador, Canada
BMC Med Genet 13:111. 2012..Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2...
- Genetic structure of the Newfoundland and Labrador population: founder effects modulate variabilityGuangju Zhai
Discipline of Genetics, Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland and Labrador, Canada
Eur J Hum Genet 24:1063-70. 2016..These results are consistent with our understanding of the population history and indicate that the NL population may be ideal for identifying recessive variants for complex diseases that affect populations of European origin. ..
- A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic featuresBridget A Fernandez
Discipline of Genetics, Memorial University of Newfoundland, St John s, NL, Canada
Respir Res 13:64. 2012..Individuals with Familial Pulmonary Fibrosis (FPF) have at least one affected first or second-degree relative and account for 0.5-20% of cases...
- Cytochrome P450 17A1 and catechol O-methyltransferase polymorphisms and age at Lynch syndrome colon cancer onset in NewfoundlandPeter T Campbell
Prosserman Centre for Health Research, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Division of Preventive Oncology, Cancer Care Ontario, Toronto, Ontario, Canada
Clin Cancer Res 13:3783-8. 2007..g., postmenopausal hormones); we hypothesized that polymorphisms which influence endogenous hormones would therefore modify age at colon cancer onset among Lynch syndrome mutation carriers...