An ontological foundation for ocular phenotypes and rare eye diseases

by Panagiotis I. Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N. Robinson, Hélène Dollfus, for the ERN-EYE Ontology Study Group
Published 2019-01-01

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with <i>MFSD8</i> Variants

by Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov, Claire-Marie Dhaenens
Published 2022-04-01