Olivier Gribouval
5PUBLICATIONS
60CO-AUTHORS
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Publications (5)
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|Jun 20, 2020
Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.Eszter Balogh, Jennifer C Chandler, Máté Varga
|Sep 05, 2019
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek
|May 17, 2018
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.Sara Gonçalves, Julie Patat, Maria Clara Guida
|Aug 15, 2017
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.Daniela A Braun, Jia Rao, Geraldine Mollet
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Frequent Collaborators
4 joint publications
Corinne Antignac
2 joint publications
Guillaume Dorval
2 joint publications
Géraldine Mollet
2 joint publications
Olivia Boyer
2 joint publications
Julie Patat
2 joint publications
Friedhelm Hildebrandt
1 joint publications
Nathalie Boddaert
1 joint publications
Jennifer F Hu
1 joint publications
Laurence Heidet
1 joint publications
Heon Yung Gee
