| Title | Authors | Publication | Year |
|---|
| De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa | Mathieu Quinodoz, et al. | Nature Genetics | 2026 |
| Key lines of discovery in myopia research | Frank Schaeffel, Jeremy A Guggenheim, Richard A Stone, Christine F Wildsoet | Ophthalmic Physiol Opt. | 2025 |
| Synchronization of visual perception within the human fovea | Annalisa Bucci, Marc Büttner, Niklas Domdei, Federica B Rosselli, Matej Znidaric, Julian Bartram, Tobias Gänswein, Roland Diggelmann, Martina De Gennaro, Cameron S Cowan, Wolf Harmening, Andreas Hierlemann, Botond Roska, Felix Franke | Nature Neuroscience | 2025 |
| Random compressed coding with neurons | Simone Blanco Malerba, Mirko Pieropan, Yoram Burak, Rava Azeredo da Silveira | Cell Rep. | 2025 |
| A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort | Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta | NPJ Genom Med. | 2025 |
| Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy | Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens, Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, Filip Van den Broeck, Almudena Ávila Fernández, Lidia Fernández-Caballero, Irene Perea-Romero, Gema García-García, David Salom, Pascale Mazzola, Theresia Zuleger, Karin Poths, Tobias B Haack, Julie Jacob, Sascha Vermeer, Frédérique Terbeek, Nicolas Feltgen, Alexandre P Moulin, Louisa Koutroumanou, George Papadakis, Andrew C Browning, Savita Madhusudhan, Lotta Gränse, Eyal Banin, Ana Berta Sousa, Luisa Coutinho Santos, Laura Kuehlewein, Pietro De Angeli, Bart P Leroy, Omar A Mahroo, Fay Sedgwick, James Eden, Maximilian Pfau, Sten Andréasson, Hendrik P N Scholl, Carmen Ayuso, José M Millán, Dror Sharon,... | Am J Hum Genet. | 2025 |
| Universal statistics of hippocampal place fields across species and dimensionalities | Nischal Mainali, Rava Azeredo da Silveira, Yoram Burak | Neuron | 2025 |
| Fixational eye movements as active sensation for high visual acuity | Trang-Anh E Nghiem, Jenny L Witten, Oscar Dufour, Wolf M Harmening, Rava Azeredo da Silveira | Proc Natl Acad Sci U S A (PNAS) | 2025 |
| High-efficiency base editing in the retina in primates and human tissues | Alissa Muller, Jack Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park-Windhol, Pascal W Hasler, Lucas Janeschitz-Kriegl, Mert Duman, Beryll Klingler, Jane Matsell, Simon Manuel Hostettler, Patricia Galliker, Yanyan Hou, Pierre Balmer, Tamás Virág, Luis Alberto Barrera, Lauren Young, Quan Xu, Dániel Péter Magda, Ferenc Kilin, Arogya Khadka, Pierre-Henri Moreau, Lyne Fellmann, Thierry Azoulay, Mathieu Quinodoz, Duygu Karademir, Juna Leppert, Alex Fratzl, Georg Kosche, Ruchi Sharma, Jair Montford, Marco Cattaneo, Mikaël Croyal, Therese Cronin, Simone Picelli, Alice Grison, Cameron S Cowan, Ákos Kusnyerik, Philipp Anders, Magdalena Renner, Zoltán Zsolt Nagy, Arnold Szabó, Kapil Bharti, Carlo Rivolta, Hendrik P N Scholl, David Bryson, Giuseppe Ciaramella, Botond Roska, Bence György | Nature Medicine | 2025 |
| De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder | Mathieu Quinodoz, Sonja Rutz, Virginie Peter, Livia Garavelli, A Micheil Innes, Elena F Lehmann, Stephan Kellenberger, Zhong Peng, Angelica Barone, Belinda Campos-Xavier, Sheila Unger, Carlo Rivolta, Raimund Dutzler, Andrea Superti-Furga | EMBO J | 2025 |
| Engineering infrared light detection in blind human retina using ultrasensitive human TRPV1 channels | Morgan Chevalier, Firas Fadel, Tímea Májer, Dániel Péter Magda, Lili Gerendás, Ferenc Kilin, Zoltán Zsolt Nagy, Arnold Szabó, Botond Roska, Guilherme Testa-Silva | Trends Biotechnol. | 2025 |
| Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa | Ana Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, Marc Folcher, Siying Lin, Gavin Arno, Joaquim Calado, Andrew R Webster, Alexandre Moulin, Ana Berta Sousa, Luisa Coutinho-Santos, Cristina Santos, Carlo Rivolta | Am J Hum Genet. | 2024 |
| The sodium-bicarbonate cotransporter Slc4a5 mediates feedback at the first synapse of vision | Rei Morikawa, Tiago M Rodrigues, Helene Marianne Schreyer, Cameron S Cowan, Sarah Nadeau, Alexandra Graff-Meyer, Claudia P Patino-Alvarez, Mohammad Hossein Khani, Josephine Jüttner, Botond Roska | Neuron | 2024 |
| Retinal Disorders | José-Alain Sahel, Eyal Banin, Jean Bennett, Jacque L Duncan, Botond Roska | Cold Spring Harbor Laboratory Press | 2024 |
| Individual thalamic inhibitory interneurons are functionally specialized toward distinct visual features | Fiona E. Müllner, Botond Roska | Neuron | 2024 |
| Optogenetic vision restoration | Volker Busskamp, Botond Roska, Jose-Alain Sahel | Cold Spring Harb Perspect Med. | 2024 |
| Mechanisms of emmetropization and what might go wrong in myopia | Frank Schaeffel, Barbara Swiatczak | Vision Res. | 2024 |
| Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration | Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Mathieu Quinodoz, Molly Marra, Sandrine Wallerich, Gilad Allon, Zoltán Z Nagy, Krisztina Knézy, Yumei Li, Rui Chen, Mirella Telles Salgueiro Barboni, Paul Yang, Mark E Pennesi, L Ingeborgh van den Born, Balázs Varsányi, Viktória Szabó, Dror Sharon, Eyal Banin, Tamar Ben-Yosef, Susanne Roosing, Robert K Koenekoop, Carlo Rivolta | Genet Med. | 2024 |
| Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads | Mathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G Peter, Elifnaz Celik, Lucas Janeschitz-Kriegl, Nils Schärer, Daniela Hauenstein, Bence György, Giacomo Calzetti, Vincent Hahaut, Sónia Custódio, Ana Cristina Sousa, Yuko Wada, Yusuke Murakami, Almudena Avila Fernández, Cristina Rodilla Hernández, Pablo Minguez, Carmen Ayuso, Koji M Nishiguchi, Cristina Santos, Luisa Coutinho Santos, Viet H Tran, Veronika Vaclavik, Hendrik P N Scholl, Carlo Rivolta | Am J Hum Genet. | 2024 |
| Retinal “sweet spot” for myopia treatment | Barbara Swiatczak, Hendrik P N Scholl, Frank Schaeffel | Sci Rep. | 2024 |
| Toward Retinal Organoids in High-Throughput | Stefan Erich Spirig, Magdalena Renner | Cold Spring Harb Perspect Med. | 2024 |
| PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models | Maryna V Ivanchenko, Daniel M Hathaway, Eric M Mulhall, Kevin Ta Booth, Mantian Wang, Cole W Peters, Alex J Klein, Xinlan Chen, Yaqiao Li, Bence György, David P Corey | J Clin Invest. | 2024 |
| Relaxing radial retinal incisions for the treatment of persistent macular holes | Camenzind-Zuche Hanna, Janeschitz-Kriegl Lucas, Hasler Pascal, Prünte Christian | European journal of ophthalmology | 2023 |
| Myopic Versus Glaucomatous Parapapillary Beta Zone in Myopic Eyes Versus Eyes With Secondary Angle-Closure Glaucoma | Jost B Jonas, Rahul A Jonas, Shefali B Jonas, Songhomitra Panda-Jonas | Investigative ophthalmology & visual science | 2023 |
| Association of Systemic Medication Use with Glaucoma and Intraocular Pressure: The European Eye Epidemiology Consortium | Joëlle E Vergroesen, Alexander K Schuster, Kelsey V Stuart, Nigus G Asefa, Audrey Cougnard-Grégoire, Cécile Delcourt, Cédric Schweitzer, Patrícia Barreto, Rita Coimbra, Paul J Foster, Robert N Luben, Norbert Pfeiffer, Julia V Stingl, Toralf Kirsten, Franziska G Rauscher, Kerstin Wirkner, Nomdo M Jansonius, Louis Arnould, Catherine P Creuzot-Garcher, Bruno H Stricker, Christina Keskini, Fotis Topouzis, Geir Bertelsen, Anne E Eggen, Mukharram M Bikbov, Jost B Jonas, Caroline C W Klaver, Wishal D Ramdas, Anthony P Khawaja, European Eye Epidemiology Consortium | Ophthalmology | 2023 |
| Genetic Associations Between Smoking- and Glaucoma-Related Traits | Jessica H Tran, Kelsey V Stuart, Victor de Vries, Joëlle E Vergroesen, Clara C Cousins, Pirro G Hysi, Ron Do, Ghislain Rocheleau, Jae H Kang, Janey L Wiggs, Stuart MacGregor, Anthony P Khawaja, David A Mackey, Caroline C W Klaver, Wishal D Ramdas, Louis R Pasquale, UK Biobank Eye and Vision Consortium, and for the International Glaucoma Genetics Consortium | Translational vision science & technology | 2023 |
| Neurovascular segregation of the retinal nerve fiber layer in glaucoma | Ai Ping Yow, Jacqueline Chua, Bingyao Tan, Rachel Chong, Monisha E Nongpiur, Preeti Gupta, Ecosse Lamoureux, Rahat Husain, Leopold Schmetterer, Damon Wong | Annals of the New York Academy of Sciences | 2023 |
| Cynomolgus monkey’s retina volume reference database based on hybrid deep learning optical coherence tomography segmentation | Nora Denk, Christian Freichel, Philippe Valmaggia, Nadja Inglin, Hendrik P N Scholl, Pascal Kaiser, Sylvie Wise, Marc Vezina, Peter M Maloca | Scientific reports | 2023 |
| Assessing the external validity of machine learning-based detection of glaucoma | Chi Li, Jacqueline Chua, Florian Schwarzhans, Rahat Husain, Michaël J A Girard, Shivani Majithia, Yih-Chung Tham, Ching-Yu Cheng, Tin Aung, Georg Fischer, Clemens Vass, Inna Bujor, Chee Keong Kwoh, Alina Popa-Cherecheanu, Leopold Schmetterer, Damon Wong | Scientific reports | 2023 |
| Current Management of Patients with RPE65 Mutation Associated Inherited Retinal Degenerations in Europe: Results of a 2-Year Follow-Up Multinational Survey | Birgit Lorenz, Joana Tavares, L Ingeborgh van den Born, João Pedro Marques, Elisabetta Pilotto, Katarina Stingl, Peter Charbel Issa, Dorothée Leroux, Hélène Dollfus, Hendrik P N Scholl | Ophthalmic research | 2023 |
| Incidence and Risk Factors of Second Eye Involvement in Myopic Macular Neovascularization | Monica Ravenstijn, Caroline C W Klaver, Suzanne Yzer | Ophthalmology. Retina | 2023 |
| The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis | Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana Berta Sousa, Luisa Coutinho Santos, Carlo Rivolta | PNAS nexus | 2023 |
| A Systematic Literature Review of Disease Progression Reported in RPGR-associated X-linked Retinitis Pigmentosa | Byron L Lam, Hendrik P N Scholl, Daneal Doub, Marvin Sperling, Mahmoud Hashim, Nan Li | Retina (Philadelphia, Pa.) | 2023 |
| Automated deep learning-based AMD detection and staging in real-world OCT datasets (PINNACLE study report 5) | Oliver Leingang, Sophie Riedl, Julia Mai, Gregor S Reiter, Georg Faustmann, Philipp Fuchs, Hendrik P N Scholl, Sobha Sivaprasad, Daniel Rueckert, Andrew Lotery, Ursula Schmidt-Erfurth, Hrvoje Bogunović | Scientific reports | 2023 |
| Associations between axial length, corneal refractive power and lens thickness in children and adolescents: The Ural Children Eye Study | Mukharram M Bikbov, Gyulli M Kazakbaeva, Albina A Fakhretdinova, Azaliia M Tuliakova, Ellina M Iakupova, Songhomitra Panda-Jonas, Leisan I Gilemzianova, Liana A Garipova, Dinar A Khakimov, Liaisan I Islamova, Nikolay I Pokhilko, Jost B Jonas | Acta ophthalmologica | 2023 |
| Myopia risk behaviour related to the COVID-19 lockdown in Europe: The generation R study | Sander C M Kneepkens, Jimmy de Vlieger, J Willem L Tideman, Clair A Enthoven, Jan Roelof Polling, Caroline C W Klaver | Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) | 2023 |
| Assessment of Retinal Vessel Tortuosity Index in Patients with Fabry Disease Using Optical Coherence Tomography Angiography (OCTA) | Kevin Hangartner, Anahita Bajka, Maximilian R J Wiest, Sophia Sidhu, Mario D Toro, Peter M Maloca, Sandrine A Zweifel | Diagnostics (Basel, Switzerland) | 2023 |
| The 18th International Myopia Conference 2022 in Rotterdam, The Netherlands | J Willem L Tideman, Virginie J M Verhoeven, Magda A Meester-Smoor, Sander C M Kneepkens, Kubra Liman, Jan Roelof Polling, Caroline C W Klaver | Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) | 2023 |
| Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia | Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, Ruben Goulet, Christophe Tourain, Christelle Michiels, Helen Frederiksen, Frank Schaeffel, Olivier Marre, José Alain Sahel, Isabelle Audo, Serge Picaud, Christina Zeitz | International journal of molecular sciences | 2023 |
| Evaluating Contrast Sensitivity in Early and Intermediate Age-Related Macular Degeneration With the Quick Contrast Sensitivity Function | Philipp Anders, Ghislaine L Traber, Ursula Hall, Simona A Garobbio, Eric J Chan, Chrysoula Gabrani, Hanna Camenzind, Maximilian Pfau, Michael Herzog, Hendrik P N Scholl | Investigative ophthalmology & visual science | 2023 |
| Systemic Metabolomics in a Framework of Genetics and Lifestyle in Age-Related Macular Degeneration | Eric F Thee, İlhan E Acar, Johanna M Colijn, Magda A Meester-Smoor, Timo Verzijden, Sara J Baart, Mohamed A Jarboui, Sascha Fauser, Carel B Hoyng, Marius Ueffing, Anneke I den Hollander, Caroline C W Klaver, European Eye Epidemiology Consortium and EYE-RISK Project | Metabolites | 2023 |
| Retinal vessel caliber and tortuosity and prediction of 5-year incidence of hypertension | Can C Xue, Cai Li, Jing F Hu, Chuan C Wei, Hua Wang, Kailimujiang Ahemaitijiang, Qi Zhang, Dong N Chen, Chun Zhang, Fan Li, Jicong Zhang, Jost B Jonas, Ya X Wang | Journal of hypertension | 2023 |
| Prevalence and Cause of Loss of Visual Acuity and Visual Field in Highly Myopic Eyes: The Beijing Eye Study | Jost B Jonas, Rahul A Jonas, Jie Xu, Ya Xing Wang | Ophthalmology | 2023 |
| Editorial: International Myopia Institute White Paper Series 2023 | Nina Tahhan, James S Wolffsohn, Padmaja Sankaridurg, Jost B Jonas, Mark A Bullimore, Ian Flitcroft, Lisa A Ostrin, Christine Wildsoet, Serge Resnikoff | Investigative ophthalmology & visual science | 2023 |
| Lifestyle Intervention Randomized Controlled Trial for Age-Related Macular Degeneration (AMD-Life): Study Design | Alexandra P M de Koning-Backus, Jessica C Kiefte-de Jong, Jeroen G J van Rooij, None Amd-Life Team, André G Uitterlinden, Trudy G Voortman, Magda A Meester-Smoor, Caroline C W Klaver | Nutrients | 2023 |
| Corrigendum: Toward Retinal Organoids in High-Throughput | Stefan Erich Spirig, Magdalena Renner | Cold Spring Harbor perspectives in medicine | 2023 |
| Ectopic expression of a mechanosensitive channel confers spatiotemporal resolution to ultrasound stimulations of neurons for visual restoration | Sara Cadoni, Charlie Demené, Ignacio Alcala, Matthieu Provansal, Diep Nguyen, Dasha Nelidova, Guillaume Labernède, Jules Lubetzki, Ruben Goulet, Emma Burban, Julie Dégardin, Manuel Simonutti, Gregory Gauvain, Fabrice Arcizet, Olivier Marre, Deniz Dalkara, Botond Roska, José Alain Sahel, Mickael Tanter, Serge Picaud | Nature nanotechnology | 2023 |
| Inhibitory top-down projections from zona incerta mediate neocortical memory | Anna Schroeder, M Belén Pardi, Joram Keijser, Tamas Dalmay, Ayelén I Groisman, Erin M Schuman, Henning Sprekeler, Johannes J Letzkus | Neuron | 2023 |
| Systematic review of prognostic factors associated with progression to late age-related macular degeneration: Pinnacle study report 2 | Ahmed M Hagag, Rebecca Kaye, Vy Hoang, Sophie Riedl, Philipp Anders, Beth Stuart, Ghislaine Traber, Christian Appenzeller-Herzog, Ursula Schmidt-Erfurth, Hrvoje Bogunovic, Hendrik P Scholl, Toby Prevost, Lars Fritsche, Daniel Rueckert, Sobha Sivaprasad, Andrew J Lotery | Survey of ophthalmology | 2023 |
| Posterior scleral birefringence measured by triple-input polarization-sensitive imaging as a biomarker of myopia progression | Xinyu Liu, Liqin Jiang, Mengyuan Ke, Ian A Sigal, Jacqueline Chua, Quan V Hoang, Audrey Wi Chia, Raymond P Najjar, Bingyao Tan, Jocelyn Cheong, Valentina Bellemo, Rachel S Chong, Michaël J A Girard, Marcus Ang, Mengyang Liu, Gerhard Garhöfer, Veluchamy A Barathi, Seang-Mei Saw, Martin Villiger, Leopold Schmetterer | Nature biomedical engineering | 2023 |