Bruna Rubbo

Topological data analysis reveals genotype–phenotype relationships in primary ciliary dyskinesia

Amelia Shoemark, Bruna Rubbo, Marie Legendre et al. · European Respiratory Journal · 2021 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Amelia Shoemark, Eduardo Moya, Robert A. Hirst et al. · Thorax · 2017 · 91 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Accuracy of High-Speed Video Analysis to Diagnose Primary Ciliary Dyskinesia

Bruna Rubbo, Amelia Shoemark, Claire Jackson et al. · CHEST Journal · 2019 · 89 citations · Full text

Medicine, Diagnostic Sciences, Diagnostic Assessment +14

Diagnosing primary ciliary dyskinesia: an international patient perspective

Laura Behan, Audrey Dunn Galvin, Bruna Rubbo et al. · European Respiratory Journal · 2016 · 84 citations · Full text

Medicine, Clinical Sciences, Early Detection +15

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

Sunayna Best, Amelia Shoemark, Bruna Rubbo et al. · Thorax · 2018 · 79 citations · Full text

Medicine, Cardiology, Genetics +17