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Hélène Dollfus

8PUBLICATIONS
63CO-AUTHORS
Data qualityGene expression (incl. microarray and other genome-wide approaches)Cell and nuclear divisionVision scienceMetabolic medicine
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Journal

Publications (8)

Sort by Publication Date:
|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

|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

Jean Muller

2 joint publications

Sylvie Friant

2 joint publications

Sophie Scheidecker

2 joint publications

Aurélie Gouronc

2 joint publications

Alain Verloes

1 joint publications

Florian Sandron

1 joint publications

Kirsley Chennen

1 joint publications

Maria Solaguren-Beascoa

1 joint publications

Kinga M Bujakowska

1 joint publications

Elise Orhan

Frequent Collaborators

4 joint publications

Jean Muller

2 joint publications

Sylvie Friant

2 joint publications

Sophie Scheidecker

2 joint publications

Aurélie Gouronc