Jean-Michel Rozet
13PUBLICATIONS
114CO-AUTHORS
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Publications (13)
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|Mar 23, 2026
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation.Jennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar
|Nov 21, 2024
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.Andrea Zanetti, Gwendal Dujardin, Lucas Fares-Taie
|Jun 19, 2024
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.Rene Moya, Clémentine Angée, Sylvain Hanein
|Apr 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati
|Mar 13, 2024
Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie
|Jul 11, 2023
Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy.Sylvie Gerber, Lola Lessard, Cécile Rouzier
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Frequent Collaborators
7 joint publications
Lucas Fares-Taie
5 joint publications
Isabelle Perrault
2 joint publications
Sylvain Hanein
1 joint publications
Béatrice Bocquet
1 joint publications
Christophe Orssaud
1 joint publications
Catrine Johansson
1 joint publications
Silvia Kalantari
1 joint publications
Colleen Carlston
1 joint publications
Norah Alsaleh
1 joint publications
Ghada M H Abdel-Salam
