Dollfus, Hélène

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

Köhler, S., Carmody, L., Vasilevsky, N., Jacobsen, J. O. B., Danis, D., Gourdine, J.-P., Gargano, M., Harris, N. L., Matentzoglu, N., McMurry, J. A., et al. (2019) · Nucleic Acids Research

Biomedical Text Mining and OntologiesGenomics and Rare Diseases

Cited by 677

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Program, N. C. S., Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., et al. (2011) · Nature Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 370

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, F., Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., et al. (2004) · Human Mutation

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 350

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period

Haqq, A. M., Chung, W. K., Dollfus, H., Haws, R. M., Martos-Moreno, G. Á., Poitou, C., Yanovski, J. A., Mittleman, R. S., Yuan, G., Forsythe, E., et al. (2022) · The Lancet Diabetes & Endocrinology

Genetic and Kidney Cyst DiseasesPharmacology and Obesity Treatment

Cited by 206

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., & Dollfus, H. (2009) · Proceedings of the National Academy of Sciences

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 178

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

Kröll‐Hermi, A., Ebstein, F., Stoetzel, C., Geoffroy, V., Schaefer, E., Scheidecker, S., Bär, S., Takamiya, M., Kawakami, K., Zieba, B. A., et al. (2020) · EMBO Molecular Medicine

Ubiquitin and proteasome pathwaysGenetic Neurodegenerative Diseases

Cited by 65