Gabrielle Wheway

12PUBLICATIONS
109CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Cellular nervous systemPacific Peoples biomedical and clinical scienceMedical genetics (excl. cancer genetics)Gene expression (incl. microarray and other genome-wide approaches)
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Publications (12)

|Nov 13, 2024
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.

Jelmer Legebeke, Gabrielle Wheway, Lee Baker

|Apr 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati

|Apr 20, 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.

Nisreen Rumman, Mahmoud R Fassad, Corine Driessens

|Oct 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.

Laura A Devlin, Janice Coles, Claire L Jackson

|Jun 28, 2022
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.

Sunayna Best, Jing Yu, Jenny Lord

|Oct 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.

Sunayna Best, Jenny Lord, Matthew Roche

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