Juliette Coursimault
3PUBLICATIONS
26CO-AUTHORS
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Publications (3)
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|Aug 31, 2023
Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism.Vincent Michaud, Angèle Sequeira, Elina Mercier
|Jul 17, 2022
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.Juliette Coursimault, Kévin Cassinari, François Lecoquierre
|Apr 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.Juliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari
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Frequent Collaborators
2 joint publications
Kévin Cassinari
2 joint publications
Pascale Saugier-Veber
2 joint publications
François Lecoquierre
2 joint publications
Olivier Quenez
2 joint publications
Gaël Nicolas
1 joint publications
Anne Rovelet-Lecrux
1 joint publications
Elise Brischoux-Boucher
1 joint publications
Alice Goldenberg
1 joint publications
Myriam Bronner
1 joint publications
Magalie Lecourtois
