Hélène Dollfus

9PUBLICATIONS
69CO-AUTHORS
Data qualityGene expression (incl. microarray and other genome-wide approaches)Cell and nuclear divisionVision scienceMetabolic medicine
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Publications (9)

|Aug 26, 2026
Building a National Interoperable Rare Eye Disease Data Warehouse: Methodological Framework and Implementation Report From the French Rare Eye Disease Database (FREDD) Initiative.

|May 26, 2026
Interoperable Integration of a National Rare Disease Registry Into a Rare Eye Disease Data Warehouse: Implementation Study.

|Sep 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disorders.

Marlène Malbos, Thierry Gautier, Amelle Shillington

|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

|Feb 07, 2025
Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome.

Andrea M Haqq, Christine Poitou, Wendy K Chung

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Frequent Collaborators

4 joint publications

Jean Muller

2 joint publications

Matthieu Stoll

2 joint publications

Sylvie Friant

2 joint publications

Sophie Scheidecker