Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.

• Weisschuh N Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
• Sturm M Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
• Baumann B Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
• Audo I Institut de la Vision, Sorbonne Université, INSERM, CNRS, Paris, France.
• Ayuso C Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD UAM), Madrid, Spain.
• Bocquet B Centre National de Référence «Maladies Sensorielles Génétiques», Service Ophtalmologie, Hôpital Gui de Chauliac, CHRU de Montpellier, Montpellier, France.
• Branham K Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
• Brooks BP National Eye Institute, National Institutes of Health, Bethesda, Maryland.
• Catalá-Mora J Ophthalmology, Hospital Sant Joan de Deu, Barcelona, Spain.
• Giorda R Molecular Biology Lab, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy.
• Heckenlively JR Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan.
• Hufnagel RB National Eye Institute, National Institutes of Health, Bethesda, Maryland.
• Jacobson SG Department of Ophthalmology, Perelman School of Medicine, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania.
• Kellner U Rare Retinal Disease Center, Augenzentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany.
• Kitsiou-Tzeli S Department of Medical Genetics, National & Kapodistrian University of Athens, Athens, Greece.
• Matet A Department of Ophthalmology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
• Martorell Sampol L Laboratorio de Genética Molecular, Hospital Sant Joan de Deu, Barcelona, Spain.
• Meunier I Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
• Rudolph G Department of Ophthalmology, Ludwig-Maximilians-University, Munich, Germany.
• Sharon D Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
• Stingl K University Eye Hospital, Center for Ophthalmology, University of Tübingen, Tübingen, Germany.
• Streubel B Department of Pathology, Medical University of Vienna, Vienna, Austria.
• Varsányi B Department of Ophthalmology, Semmelweis University, Budapest, Hungary.
• Wissinger B Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
• Kohl S Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.

CNGB3

achromatopsia

deep intronic variant

pseudoexon

splicing defect