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N Simon Thomas

4PUBLICATIONS
48CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Medical genetics (excl. cancer genetics)Haematological tumoursInfant and child health
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Journal

Publications (4)

Sort by Publication Date:
|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

Frequent Collaborators

2 joint publications

Jane S Lucas

2 joint publications

Gabrielle Wheway

2 joint publications

Diana Baralle

1 joint publications

John W Holloway

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