Angela F. Brady
Northwick Park Hospital
93 Papers
356 Citations
Angela F. Brady is an academic researcher from Northwick Park Hospital. The author has contributed to research in topics: Medicine & Population. The author has an hindex of 36, co-authored 83 publications. Previous affiliations of Angela F. Brady include St George's Hospital & Ealing Hospital.
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Papers
Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
Amy Taylor,Angela F. Brady,Ian M. Frayling,Helen Hanson,Marc Tischkowitz,Clare Turnbull,Lucy Side +6 more
TL;DR: A 1-day workshop with representation from the majority of National Health Service clinical genetics services achieved consensus for panels of cancer genes with sufficient evidence for clinical utility, to be adopted by all NHS genetics services.
Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome
FR Goodman,Chiara Bacchelli,Angela F. Brady,Louise Brueton,Jean Pierre Fryns,Douglas P. Mortlock,Jeffrey W. Innis,Lewis B. Holmes,Alan E. Donnenfeld,Murray Feingold,Frits A. Beemer,Raoul C.M. Hennekam,Peter J. Scambler +12 more
TL;DR: In this article, a HOXA13 homeobox mutation was found to cause Hand-Foot-Genital Syndrome (HFGS) in two new and four previously reported families with features of HFGS.
Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12
Angela F. Brady,Elsawi Mm,Jamieson Cr,Marks K,Steve Jeffery,Michael A. Patton,Murtaza L,Savage Mo +7 more
TL;DR: Molecular analysis showed that the deletion mapped approximately 17 cM centromeric to the critical region for NS in this patient, and to the knowledge, there have been no similar cases of interstitial deletion reported on chromosome 12q.
Mutations in TCF12 , encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Vikram P Sharma,Aimee L. Fenwick,Mia Brockop,Mia Brockop,Simon J. McGowan,Jacqueline A C Goos,A. Jeannette M. Hoogeboom,Angela F. Brady,Nu Owase Jeelani,Sally Ann Lynch,John B. Mulliken,Dylan J. Murray,Julie M. Phipps,Elizabeth Sweeney,Susan Tomkins,Louise C. Wilson,Sophia C. Bennett,Richard J. Cornall,John Broxholme,Alexander Kanapin,David W. Johnson,Steven A. Wall,Peter J. van der Spek,Irene M.J. Mathijssen,Robert E. Maxson,Stephen R.F. Twigg,Andrew O.M. Wilkie +26 more
TL;DR: It is shown that TCF 12 and TWIST1 act synergistically in a transactivation assay and that mice doubly heterozygous for loss-of-function mutations in Tcf12 and Twist1 have severe coronal synostosis, and that the dosage of TCF12-TWIST1 heterodimers is critical for normal coronal suture development.
Phenotypic spectrum associated with de novo mutations in QRICH1 gene.
TL;DR: 3 unrelated children with de novo loss‐of‐function (LoF) mutations in QRICH1 are presented, diagnosed through trio‐based exome sequencing and suggested as a novel cause of DD.