Juliette Coursimault

Publication Activity (10 Years)

Years Active: 2022-2023
Publications (10 Years): 3

Top Topics

Patient Reported Outcomes

Single Molecule

Ejection Fraction

Top Venues

Pigment cell & melanoma research

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

Publications

Vincent Michaud, Angèle Tingaud-Sequeira, Elina Mercier, Eulalie Lasseaux, Claudio Plaisant, Smail Hadj Rabia, Sandra Whalen, Dominique Bonneau, Anne Dieux-Coeslier, Fanny Morice-Picard, Juliette Coursimault, Benoit Arveiler, Sophie Javerzat
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. Pigment cell & melanoma research (2023)
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)