Perrine Brunelle
6PUBLICATIONS
87CO-AUTHORS
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Publications (6)
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|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.Amandine Santini, Angelo Tognon, Anne-Claire Richard
|Mar 03, 2026
Non-coding genome in nail-patella syndrome: Genetic diagnosis as a guide for personalized follow-up.Perrine Brunelle, Anne-Sophie Jourdain, Fabienne Escande
|May 10, 2025
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.Fiona Leduc, Perrine Brunelle, Fabienne Escande
|Mar 21, 2025
XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.Silvestre Cuinat, Nicolas Chatron, Florence Petit
|Feb 24, 2024
Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.Emily Baum, Wenming Huang, Catherine Vincent-Delorme
|Aug 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.Xiangbin Jia, Shujie Zhang, Senwei Tan
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Frequent Collaborators
2 joint publications
Valérie Cormier-Daire
2 joint publications
Nicolas Chatron
1 joint publications
Xiangbin Jia
1 joint publications
Shujie Zhang
1 joint publications
Senwei Tan
1 joint publications
Haisong Qin
1 joint publications
Jia Chen
1 joint publications
Xinyu Duan
1 joint publications
Maud de Dieuleveult
1 joint publications
Jian Wang
