Publications by authors named "F Ramond"

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CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.
Kamal Khan, Erika Tavares, Katherine Bishara, Aysegul Ozanturk, Leila Qebibo, Francis Ramond

Sci Adv· October 2025

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The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.
Sarah M Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A Kamel, Francis Ramond

Ann Neurol· September 2025

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Systematic analysis of snRNA genes reveals frequent variants in dominant and recessive developmental and epileptic encephalopathies.
Elsa Leitão, Amandine Santini, Benjamin Cogne, Myriam Essid, Maria Athanasiadou, Francis Ramond

medRxiv· September 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Francis Ramond

Nat Genet· June 2025

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AP4B1 hypomorphic variants cause autosomal recessive adult-onset ataxia.
Quentin Sabbagh, Natalia Hernandez Poblete, Chloé Angelini, Clément Hersent, Mehdi Benkirane, Francis Ramond

J Neurol· January 2025

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