Omar Soukarieh

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

Omar Soukarieh, Pascaline Gaildrat, Mohamad Hamieh et al. · PLoS Genetics · 2016 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

Marie‐Gabrielle Duperron, Maria J. Knol, Quentin Le Grand et al. · Nature Medicine · 2023 · 123 citations · Full text

Life Sciences, Genetics, Neuroscience +17

SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing

Raphaël Leman, Béatrice Parfait, Dominique Vidaud et al. · Human Mutation · 2022 · 92 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Miguel de la Hoya, Omar Soukarieh, Irene López‐Perolio et al. · Human Molecular Genetics · 2016 · 90 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons

Brian Harding, Amanda Moccia, Séverine Drunat et al. · The American Journal of Human Genetics · 2016 · 71 citations · Full text

Life Sciences, Genetics, Neuroscience +8