Edel A O'Toole
20PUBLICATIONS
110CO-AUTHORS
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Publications (20)
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|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
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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
Pierre A Coulombe