Sabine Defoort

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel <i>OPA1</i> mutations

Marc Ferré, Dominique Bonneau, Dan Miléa et al. · Human Mutation · 2009 · 164 citations · Full text

Medicine, 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

Optical Coherence Tomography in Neuromyelitis Optica

de Sèze, Frédéric Blanc, L. Jeanjean et al. · Archives of Neurology · 2008 · 113 citations

Medicine, Neurology, Ophthalmology +17

Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study

Claudia A. Chiriboga, Claudio Bruno, Tina Duong et al. · Neurology and Therapy · 2023 · 54 citations · Full text

Medicine, Neurology, Pharmacology +16

Cost‐effective molecular inversion probe‐based <i>ABCA4</i> sequencing reveals deep‐intronic variants in Stargardt disease

Mubeen Khan, Stéphanie S. Cornelis, Muhammad Imran Khan et al. · Human Mutation · 2019 · 49 citations

Life Sciences, Genetics, Molecular Genetics +16