Hélène Dollfus

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 711 citations · Full text

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Alison Ross, Helen May‐Simera, Erica R. Eichers et al. · Nature Genetics · 2005 · 548 citations

Signal Transduction, Developmental Biology, Medicine +7

AnnotSV: an integrated tool for structural variations annotation

Véronique Geoffroy, Yvan Herenger, Arnaud Kress et al. · Bioinformatics · 2018 · 475 citations · Full text

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas et al. · Nature Genetics · 1996 · 443 citations

Ocular Disease, Retina, Mendelian Disorder +5

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis et al. · Nature Genetics · 2008 · 394 citations

Syndromic Encephalocele Genes, Developmental Biology, Mendelian Disorder +9