Jean Muller

26PUBLICATIONS
65CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Gene and molecular therapyMolecular imaging (incl. electron microscopy and neutron diffraction)Cell and nuclear divisionVision science
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Publications (26)

|Nov 21, 2025
Genome region aware CADD thresholds for noncoding variant prioritization.

Jude-Félix Tenywa, Jean-Baptiste Lamouche, Sarah Baer

|Sep 02, 2025
Real-World Efficacy and Safety of Setmelanotide in Adults With Monogenic or Syndromic Obesity: A Prospective Cohort Study.

Francois Mifsud, Sarah Chalopin, Emilie Guillon

|Jun 21, 2025
PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

Adella Karam, Clarisse Delvallée, Bénédicte Gérard

|Apr 14, 2025
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

Aurélie Gouronc, Elodie Javey, Anne-Sophie Leuvrey

|Mar 05, 2025
Novel MYH10 heterozygous variants associated to a syndrome combining mainly ptosis and ocular coloboma expand the MYH10 related phenotypes.

Sophie Scheidecker, Séverine Bär, Ariane Kröll-Hermi

|Jul 31, 2024
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Hélène Dollfus, Marc R Lilien, Pietro Maffei

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Frequent Collaborators

4 joint publications

Sylvie Friant

4 joint publications

Hélène Dollfus

3 joint publications

Amélie Piton

2 joint publications

Sophie Scheidecker