Bridget A Fernandez

Summary

Affiliation: University of Toronto
Country: Canada

Publications

  1. pmc A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features
    Bridget A Fernandez
    Discipline of Genetics, Memorial University of Newfoundland, St John s, NL, Canada
    Respir Res 13:64. 2012
  2. pmc Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
    Bridget 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
  3. doi request reprint Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
    Bridget 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

Detail Information

Publications3

  1. pmc A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features
    Bridget 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...
  2. pmc Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
    Bridget 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...
  3. doi request reprint Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder
    Bridget 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...