Kévin Cassinari

Publication Activity (10 Years)

Years Active: 2020-2022
Publications (10 Years): 3

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Movement disorders : official journal of the Movement Disorder Society

This page only lists publications with an associated author ORCID identifier.

Publications

Juliette Coursimault, Kévin Cassinari, Francois Lecoquierre, Olivier Quenez, Sophie Coutant, Céline Derambure, Myriam Vezain, Nathalie Drouot, Gabriella Vera, Elise Schaefer, Anaïs Philippe, Bérénice Doray, Laëtitia Lambert, Jamal Ghoumid, Thomas Smol, Mélanie Rama, Marine Legendre, Didier Lacombe, Patricia Fergelot, Robert Olaso, Anne Boland, Jean-François Deleuze, Alice Goldenberg, Pascale Saugier-Veber, Gaël Nicolas
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. Human mutation (2022)
Juliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, Elise Brischoux-Boucher, Pascale Saugier-Veber, Alice Goldenberg, Francois Lecoquierre, Nathalie Drouot, Anne-Claire Richard, Gabriella Vera, Sophie Coutant, Olivier Quenez, Marion Rolain, Céline Bonnet, Myriam Bronner, Magalie Lecourtois, Gaël Nicolas
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome. Human mutation 43 (9) (2022)
Kévin Cassinari, Anne Rovelet-Lecrux, Sandrine Tury, Olivier Quenez, Anne-Claire Richard, Camille Charbonnier, Robert Olaso, Anne Boland, Jean-François Deleuze, Jean-François Besancenot, Benoit Delpont, Dorothée Pouliquen, François Lecoquierre, Pascal Chambon, Christel Thauvin-Robinet, Dominique Campion, Thierry Frebourg, Jean-Luc Battini, Gaël Nicolas
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element. Movement disorders : official journal of the Movement Disorder Society 35 (8) (2020)