Béatrice Bocquet

8PUBLICATIONS
207CO-AUTHORS
Sensory systemsCell and nuclear divisionNeurology and neuromuscular diseasesOptometryGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Oct 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Kamal Khan, Erika Tavares, Katherine Bishara

|Jan 20, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

|Jun 27, 2022
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy.

Bernd Wissinger, Britta Baumann, Elena Buena-Atienza

|Apr 23, 2022
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.

Anaïs F Poncet, Olivier Grunewald, Veronika Vaclavik

|Dec 10, 2021
CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients: A Reappraisal in the Light of Specific Müller Cell and Photoreceptor CRB1 Isoforms.

Kévin Mairot, Vasily Smirnov, Béatrice Bocquet

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Frequent Collaborators

3 joint publications

Susanne Kohl

3 joint publications

Jessica C Gardner

3 joint publications

Olivier Grunewald

3 joint publications

Ulrich Kellner