Edel A O'Toole
19PUBLICATIONS
104CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (19)
Sort by Publication Date:
|Apr 14, 2025
Homozygous HOXC13 Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability.Virginia Clowes, Xiaolun Ma, Hannah Maude
|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.Valentina Cipriani, Letizia Vestito, Emma F Magavern
|Oct 16, 2024
A prenatal skin atlas reveals immune regulation of human skin morphogenesis.Nusayhah Hudaa Gopee, Elena Winheim, Bayanne Olabi
|Sep 28, 2024
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.Avinaash V Maharaj, Miho Ishida, Anna Rybak
|May 28, 2024
Pachyonychia congenita: pathogenesis of pain and approaches to treatment.Rebecca L McCarthy, Marianne de Brito, Edel A O'Toole
|Feb 25, 2023
Deep palmar phenotyping in atopic eczema: patterns associated with filaggrin variants, disease severity and barrier function in a South Asian population.Bjorn R Thomas, Xiang Li Tan, Stefan Van Duijvenboden
Pageof 4
Frequent Collaborators
3 joint publications
Bjorn R Thomas
3 joint publications
Neil Rajan
2 joint publications
John McGrath
2 joint publications
Marianne de Brito
1 joint publications
T Funk
1 joint publications
A Paller
1 joint publications
M P Caley
1 joint publications
C A Harwood
1 joint publications
X L Tan
1 joint publications
Raunak Modak
