N Simon Thomas
4PUBLICATIONS
48CO-AUTHORS
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Publications (4)
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|Nov 13, 2024
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.Jelmer Legebeke, Gabrielle Wheway, Lee Baker
|Oct 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.Laura A Devlin, Janice Coles, Claire L Jackson
|Jan 14, 2022
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).Siying Lin, Aida Sanchez-Bretaño, Joseph S Leslie
|Jul 14, 2021
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.Federica Buonocore, Avinaash Maharaj, Younus Qamar
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Frequent Collaborators
2 joint publications
Jane S Lucas
2 joint publications
Gabrielle Wheway
2 joint publications
Diana Baralle
1 joint publications
John W Holloway
1 joint publications
Avinaash Maharaj
1 joint publications
Younus Qamar
1 joint publications
Katrin Koehler
1 joint publications
Jenifer P Suntharalingham
1 joint publications
Li F Chan
1 joint publications
Claire R Hughes
