Sarah Baer

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

Caroline Nava, Benjamin Cogné, Elsa Leitão et al. · Nature Genetics · 2025 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Corticosteroids versus clobazam for treatment of children with epileptic encephalopathy with spike-wave activation in sleep (RESCUE ESES): a multicentre randomised controlled trial

Marleen M. L. van Arnhem, Bart van den Munckhof, Alexis Arzimanoglou et al. · The Lancet Neurology · 2023 · 37 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14

<i>IL11RA‐</i>related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences

Elise Brischoux‐Boucher, Aurélien Trimouille, Geneviève Baujat et al. · Clinical Genetics · 2018 · 32 citations

Dentistry, Craniofacial Biology, Craniofacial Development +16

Diagnostic and severity scores for Cockayne syndrome

Marie‐Aude Spitz, François Séverac, Cathy Obringer et al. · Orphanet Journal of Rare Diseases · 2021 · 28 citations · Full text

Medicine, Genetics, Pediatrics +16

<i>ANK2</i> loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

Maria W A Teunissen, Elly Lewerissa, Eline van Hugte et al. · Human Molecular Genetics · 2023 · 23 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17