Hélène Dollfus
Transgene (France)(FR)Inserm(FR)Hôpitaux Universitaires de Strasbourg(FR)Génétique Médicale & Génomique Fonctionelle(FR)Université de Strasbourg(FR)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Retinal Development and Disorders, Hedgehog Signaling Pathway Studies, Retinal Diseases and Treatments
Most-Cited Works
- → Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources(2018)732 cited
- → Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates(2005)549 cited
- → Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis(2017)549 cited
- → AnnotSV: an integrated tool for structural variations annotation(2018)492 cited
- → Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis(1996)445 cited
- → Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome(2008)395 cited