An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, +72

Nature Cell Biology

Ciliopathy GenesFunctional GenomicsGliomaGeneticsGene Regulation +8

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

Alberta A. H. J. Thiadens, Anneke I. den Hollander, Susanne Roosing, +15

The American Journal of Human Genetics

Photoreceptor CellMolecular NeuroscienceOphthalmologyGenetic DisorderMolecular Biology +4

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Susanne Kohl, Ditta Zobor, Wei‐Chieh Chiang, +30

Nature Genetics

Signal TransductionDisease MechanismGenetic DisorderMolecular BiologyDegenerative Disease +5

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Susanne Kohl, Frauke Coppieters, Françoise Meire, +12

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathologyMolecular Genetics +2

Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography

Alberta A. H. J. Thiadens, Ville Somervuo, L. Ingeborgh van den Born, +7

Investigative Ophthalmology & Visual Science

Mutations of the <i>CEP290</i> gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Valeska Frank, Anneke I. den Hollander, Nadina Ortiz Brüchle, +11

Human Mutation

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy

Alberta A. H. J. Thiadens, T. My Lan Phan, Renate C. Zekveld-Vroon, +15

Ophthalmology

Clinical CourseOphthalmologyDegenerative DiseaseVisual OutcomeMedicine +3

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

Susanne Roosing, Matan Hofree, Sehyun Kim, +41

eLife

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Suzanne E. de Bruijn, Alessia Fiorentino, Stephanie Fanucchi, +33

The American Journal of Human Genetics

Retinal OrganoidsStructural VariantsDominant Retinitis PigmentosaOcular DiseasePhotoreceptor Cell +13

Homozygosity Mapping in Patients with Cone–Rod Dystrophy: Novel Mutations and Clinical Characterizations

Karin W. Littink, Robert K. Koenekoop, L. Ingeborgh van den Born, +15

Investigative Ophthalmology & Visual Science