Bridget A Fernandez
Affiliation: University of Toronto
- 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...
- 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...
- Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorderBridget A Fernandez
Provincial Medical Genetics Program, Health Sciences Center, 300 Prince Philip Drive, St John s Newfoundland, A1B 3V6, Canada
J Med Genet 47:195-203. 2010..No physical or behavioural features have been identified that distinguish these individuals as having a distinct ASD subtype, but clinical data are limited...
- Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort studySusan J Moore
Clinical Epidemiology Unit, Memorial University, St John s, Newfoundland, Canada
Am J Med Genet A 132:352-60. 2005..The features in this population do not support the notion that BBS and LMS are distinct. The lack of a genotype-phenotype correlation implies that BBS proteins interact and are necessary for the development of many organs...
- The Newfoundland population: a unique resource for genetic investigation of complex diseasesProton Rahman
Department of Medicine, Memorial University of Newfoundland, St Johns, Newfoundland, Canada
Hum Mol Genet 12:R167-72. 2003..Based on these factors, we propose that the population of Newfoundland offers many advantages for genetic mapping of common diseases, compared with admixed populations, and even compared with other isolates...