Employment
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University College London
Education
Education history is unavailable.
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Publications (261)
- Upper airway ciliary dysfunction in bronchiectasis: The EMBARC cilia cohort study Save
- Non-Coding DNA Variants Increase the Genetic Diagnostic Yield in Primary Ciliary Dyskinesia Save
- Characterisation of a primary ciliary dyskinesia model generated from BMI1-transduced basal epithelial cells Save
- Accuracy of immunofluorescence testing in the diagnosis of Primary Ciliary Dyskinesia (PCD): a six-year review at a specialist referral center Save
- Multimodal diagnostic evaluation in PCD patients without genetic confirmation Save
- Advances in PCD gene diagnostics: new initiatives to improve gene-variant-disease relationships Save
- Rare disease gene association discovery in the 100,000 Genomes Project Save
- HYDIN variants cause primary ciliary dyskinesia in the Finnish population Save
- The international registry for primary ciliary dyskinesia reveals regional variation of genotypes and significant genotype-phenotype correlations Save
- Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations Save