- 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...