F
Fiona Vaz
Researcher at King's College London
Publications - 2
Citations - 441
Fiona Vaz is an academic researcher from King's College London. The author has contributed to research in topics: Fanconi anemia & Fanconi anemia, complementation group C. The author has an hindex of 2, co-authored 2 publications receiving 417 citations.
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Journal ArticleDOI
Mutation of the RAD51C gene in a Fanconi anemia-like disorder
Fiona Vaz,Helmut Hanenberg,Helmut Hanenberg,Beatrice Schuster,Karen Barker,Constanze Wiek,Verena Erven,Kornelia Neveling,Daniela Endt,Ian Kesterton,Flavia Autore,Franca Fraternali,Marcel Freund,Linda Hartmann,David Grimwade,Roland G. Roberts,Heiner Schaal,Shehla Mohammed,Nazneen Rahman,Detlev Schindler,Christopher G. Mathew +20 more
TL;DR: Biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome because of loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin.
Journal ArticleDOI
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
Joanna McCauley,Navta Masand,Ruth McGowan,Sulekha Rajagopalan,Alasdair G. W. Hunter,Jacques L. Michaud,Kate Gibson,Jeremy D. Robertson,Fiona Vaz,Stephen Abbs,Simon T. Holden +10 more
TL;DR: Comparison of the clinical findings in patients with published clinical data shows that loss‐of‐function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which a proposed clinical criteria to aid diagnosis is proposed.