Kévin Cassinari
3PUBLICATIONS
15CO-AUTHORS
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Publications (3)
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|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
|Jun 08, 2020
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element.Kévin Cassinari, Anne Rovelet-Lecrux, Sandrine Tury
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Frequent Collaborators
3 joint publications
Gaël Nicolas
2 joint publications
Juliette Coursimault
2 joint publications
Pascale Saugier-Veber
2 joint publications
François Lecoquierre
2 joint publications
Olivier Quenez
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
