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Perrine Brunelle

6PUBLICATIONS
87CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene mappingMolecular targetsMedical molecular engineering of nucleic acids and proteins
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Journal

Publications (6)

Sort by Publication Date:
|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 <i>PUF60</i>-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

Frequent Collaborators

2 joint publications

Valérie Cormier-Daire

2 joint publications

Nicolas Chatron

1 joint publications

Xiangbin Jia

1 joint publications

Shujie Zhang

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