Clinical and molecular features of PRCD ‐associated retinopathy
Vasil Kostin, Karolina Kamińska, Marco Cattaneo, Enrico Ambrosini et autres
0 citationsActa Ophthalmologica
Béatrice Bocquet
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125Publications signalées
1975Citations signalées
4Affiliations récentes
Institutions déclarées
Domaines associés
Retinal Development and DisordersRetinal Diseases and TreatmentsOcular Disorders and TreatmentsMitochondrial Function and PathologyPhotoreceptor and optogenetics research
Publications récentes
Deep Learning for Diagnosis of Choroideremia and USH2A-Associated Rod–Cone Dystrophy Using Macular Optical Coherence Tomography Volumes
Kévin Mairot, Isabelle Meunier, Béatrice Bocquet, Natacha Stolowy et autres
0 citationsOphthalmology Science
Phenotypic Variations in a Large Family with Dominant Optic Atrophy Related to a Novel OPA1 Deletion
Aymane Bouzidi, Patrizia Amati-Bonneau, Valérie Desquiret‐Dumas, Cléis Beaulieu et autres
0 citationsOphthalmology Science
Clinical and Genetic Spectrum of ACO2 -Linked Dominant Optic Atrophy
Cléis Beaulieu, Aymane Bouzidi, Valérie Desquiret-Dumas, Xavier Dieu et autres
0 citationsJAMA Ophthalmology
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis
Zoeline Mars, Andrea Zanetti, Karolina Kamińska, Takero Miyagawa et autres
1 citationmedRxiv
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa
Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvačková, Karolina Kamińska et autres
14 citationsNature Genetics
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies
Kamal Khan, Erika Tavares, Katherine Bishara, Ayşegül Ozantürk et autres
1 citationScience Advances
RetiGene, a comprehensive gene atlas for inherited retinal diseases
Carlo Rivolta, Elifnaz Çelik, Dhryata Kamdar, Francesca Cancellieri et autres
34 citationsThe American Journal of Human Genetics
RetiGene, a comprehensive gene atlas for inherited retinal diseases (IRDs)
Mathieu Quinodoz, Elifnaz Çelik, Dhryata Kamdar, Francesca Cancellieri et autres
2 citationsbioRxiv (Cold Spring Harbor Laboratory)
Identification of IDH3G, encoding the gamma subunit of mitochondrial isocitrate dehydrogenase, as a novel candidate gene for X-linked retinitis pigmentosa
Lorenzo Bianco, Julien Navarro, Christelle Michiels, Riccardo Sangermano et autres
5 citationsGenetics in Medicine
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies
Lude Moekotte, Joke de Boer, Sanne Hiddingh, Aafke de Ligt et autres
3 citationsInvestigative Ophthalmology & Visual Science
PFMG2025–integrating genomic medicine into the national healthcare system in France
Caroline Abadie, Aldja Abderrahmane, Ouarda Abdous, Carine Abel et autres
52 citationsThe Lancet Regional Health - Europe
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