Claire‐Marie Dhaenens

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Riccardo Sangermano, Alejandro Garanto, Mubeen Khan et al. · Genetics in Medicine · 2019 · 198 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Laura Whelan et al. · Genetics in Medicine · 2020 · 142 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Tau as a Biomarker of Neurodegenerative Diseases

Susanna Schraen‐Maschke, Nicolas Sergeant, Claire‐Marie Dhaenens et al. · Biomarkers in Medicine · 2008 · 126 citations · Full text

Life Sciences, Neurology, Neuroscience +15

Analysis of Exonic Regions Involved in Nuclear Localization, Splicing Activity, and Dimerization of Muscleblind-like-1 Isoforms

Hélène Tran, Nathalie Gourrier, Camille Lemercier-Neuillet et al. · Journal of Biological Chemistry · 2011 · 84 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in IMPG1 Cause Vitelliform Macular Dystrophies

Gaël Manès, Isabelle Meunier, Almudena Ávila‐Fernández et al. · The American Journal of Human Genetics · 2013 · 81 citations · Full text

Medicine, Genetics, Ophthalmology +10