| 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 |
| Retinal ganglion cell survival and functional maturation in transiently vascularized human retinal organoids | Kritika Sharma, Rouhollah Habibey, Mariana M Ribeiro, Bohao Cui, Rebecca A Siwicki, Johannes Striebel, Julia S Pawlick, Jasmin Zorn, Larissa Utz, Magdalena Renner, Simone Picelli, Frank G Holz, Carmen Ruiz de Almodóvar, Cameron S Cowan, Volker Busskamp | Cell Stem Cell | 2026 |
| Early-onset retinopathy in patients with variants in SLC6A6 leading to impaired taurine transport | Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, Michael D Allen, Ehsan Ullah, Sabrina G Signorini, Cyril Burin des Roziers, Rosalie M Grijalva, Abdur Rashid, Asad Munir, Alessandra Pia Porretta, Enza Maria Valente, Aime R Agather, Ioannis Dimopoulos, Robert B Hufnagel, Edouard Malandain, Juliette Coursimault, Muhammad Ansar, Stylianos E Antonarakis, Andrea Superti-Furga, Sanaullah Jan, Brian P Brooks, Giacomo Calzetti, Bin Guan, Mathieu Quinodoz, L Keith Henry, Carlo Rivolta | JAMA Ophthalmol. | 2026 |
| 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 |
| Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development | Abigail R Moye, Michael A Robichaux, Melina A Agosto, Alexandre P Moulin, Alexandra Graff-Meyer, Carlo Rivolta, Theodore G Wensel | J Cell Sci. | 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 |
| 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 |
| 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 |
| 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 |
| Myopia control in Mendelian forms of myopia | Emilie van der Sande, Jan Roelof Polling, J Willem L Tideman, Magda A Meester-Smoor, Alberta A H J Thiadens, Emily Tan, Chris I De Zeeuw, Ralph Hamelink, Ingo Willuhn, Virginie J M Verhoeven, Beerend H J Winkelman, Caroline C W Klaver | Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) | 2023 |
| Ciliary body size in chronic angle-closure glaucoma | Jost B Jonas, Rahul A Jonas, Shefali B Jonas, Songhomitra Panda-Jonas | Scientific reports | 2023 |
| Effect of Treatment with Topical Azithromycin or Oral Doxycycline on Tear Film Thickness in Patients with Meibomian Gland Dysfunction: A Randomized Controlled Trial | Andreas Schlatter, Nikolaus Hommer, Martin Kallab, Hannes Stegmann, Kristina Zeller, Stefan Palkovits, Oliver Findl, René M Werkmeister, Leopold Schmetterer, Gerhard Garhöfer, Doreen Schmidl | Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics | 2023 |
| Intraocular cetuximab: Safety and effect on axial elongation in young Guinea pigs with lens-induced myopization | He-Yan Li, Li Dong, Xu-Han Shi, Rui-Heng Zhang, Wen-Da Zhou, Hao-Tian Wu, Chu-Yao Yu, Yi-Tong Li, Yi-Fan Li, Jost B Jonas, Wen-Bin Wei, Yue-Ming Liu | Experimental eye research | 2023 |
| IMI-Management and Investigation of High Myopia in Infants and Young Children | Ian Flitcroft, John Ainsworth, Audrey Chia, Susan Cotter, Elise Harb, Zi-Bing Jin, Caroline C W Klaver, Anthony T Moore, Ken K Nischal, Kyoko Ohno-Matsui, Evelyn A Paysse, Michael X Repka, Irina Y Smirnova, Martin Snead, Virginie J M Verhoeven, Pavan K Verkicharla | Investigative ophthalmology & visual science | 2023 |
| Genetic Variability of Complement Factor H Has Ethnicity-Specific Associations With Choroidal Thickness | Beau J Fenner, Hengtong Li, Alfred T L Gan, Young Seok Song, Yih Chung Tham, Jost B Jonas, Ya Xing Wang, Ching Yu Cheng, Tien Yin Wong, Kelvin Y C Teo, Anna C S Tan, Qiao Fan, Chui Ming Gemmy Cheung | Investigative ophthalmology & visual science | 2023 |
| Motor performance and functional connectivity between the posterior cingulate cortex and supplementary motor cortex in bipolar and unipolar depression | Lara E Marten, Aditya Singh, Anna M Muellen, Sören M Noack, Vladislav Kozyrev, Renate Schweizer, Roberto Goya-Maldonado | European archives of psychiatry and clinical neuroscience | 2023 |
| Macular outer nuclear layer, ellipsoid zone and outer photoreceptor segment band thickness, axial length and other determinants | Ya Xing Wang, Zhe Pan, Can Can Xue, Hui Xie, Xiaodong Wu, Jost B Jonas | Scientific reports | 2023 |
| Endpoints for clinical trials in ophthalmology | Leopold Schmetterer, Hendrik Scholl, Gerhard Garhöfer, Lucas Janeschitz-Kriegl, Federico Corvi, SriniVas R Sadda, Felipe A Medeiros | Progress in retinal and eye research | 2023 |
| High Myopia Normative Database of Peripapillary Retinal Nerve Fiber Layer Thickness to Detect Myopic Glaucoma in a Chinese Population | Yunhe Song, Fei Li, Rachel S Chong, Wei Wang, An Ran Ran, Fengbin Lin, Peiyuan Wang, Zhenyu Wang, Jingwen Jiang, Kangjie Kong, Ling Jin, Meiling Chen, Jian Sun, Deming Wang, Clement C Tham, Dennis S C Lam, Linda M Zangwill, Robert N Weinreb, Tin Aung, Jost B Jonas, Kyoko Ohno-Matsui, Ching-Yu Cheng, Neil M Bressler, Xiaodong Sun, Carol Y Cheung, Shida Chen, Xiulan Zhang, Glaucoma Suspects with High Myopia Study Group | Ophthalmology | 2023 |
| Localized transverse flow measurement with dynamic light scattering line-scan OCT | Le Han, Bingyao Tan, Leopold Schmetterer, Kostadinka Bizheva | Biomedical optics express | 2023 |
| The Structural Layers of the Porcine Iris Exhibit Inherently Different Biomechanical Properties | Royston K Y Tan, Satish K Panda, Fabian A Braeu, Arumugam R Muralidharan, Monisha E Nongpiur, Anita S Y Chan, Tin Aung, Raymond P Najjar, Michaël J A Girard | Investigative ophthalmology & visual science | 2023 |
| Short-Term Effect of Micropulse Transscleral Laser Therapy on Intraocular Pressure in Untreated Fellow Eyes of Glaucoma Patients: Preliminary Results | Laura L Fortuna, Thomas Dervos, Zisis Gatzioufas, Hendrik P N Scholl, Konstantin Gugleta, Tim J Enz | Journal of clinical medicine | 2023 |
| Multimodal imaging and deep learning in geographic atrophy secondary to age-related macular degeneration | Maximilian Pfau, Sandrine H Künzel, Kristina Pfau, Steffen Schmitz-Valckenberg, Monika Fleckenstein, Frank G Holz | Acta ophthalmologica | 2023 |
| IMI-Nonpathological Human Ocular Tissue Changes With Axial Myopia | Jost B Jonas, Richard F Spaide, Lisa A Ostrin, Nicola S Logan, Ian Flitcroft, Songhomitra Panda-Jonas | Investigative ophthalmology & visual science | 2023 |
| Post-GWAS screening of candidate genes for refractive error in mutant zebrafish models | Wim H Quint, Kirke C D Tadema, Nina C C J Kokke, Magda A Meester-Smoor, Adam C Miller, Rob Willemsen, Caroline C W Klaver, Adriana I Iglesias | Scientific reports | 2023 |
| Therapeutic Potential of Cannabinoids in Glaucoma | Theresa Lindner, Doreen Schmidl, Laura Peschorn, Viktoria Pai, Alina Popa-Cherecheanu, Jacqueline Chua, Leopold Schmetterer, Gerhard Garhöfer | Pharmaceuticals (Basel, Switzerland) | 2023 |
| BDNF signaling in correlation-dependent structural plasticity in the developing visual system | Elena Kutsarova, Anne Schohl, Martin Munz, Alex Wang, Yuan Yuan Zhang, Olesia M Bilash, Edward S Ruthazer | PLoS biology | 2023 |
| Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net | 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, EVICR.net study group, ERN-EYE study group | Ophthalmic research | 2023 |
| Neville Osborne – Editor-in-Chief of Progress in Retinal and Eye Research for 40 years | Leopold Schmetterer, Gülgün Tezel, Joel Schuman | Progress in retinal and eye research | 2023 |
| Toward Retinal Organoids in High-Throughput | Stefan Erich Spirig, Magdalena Renner | Cold Spring Harbor perspectives in medicine | 2023 |
| EPIREGULIN creates a developmental niche for spatially organized human intestinal enteroids | Charlie J Childs, Emily M Holloway, Caden W Sweet, Yu-Hwai Tsai, Angeline Wu, Abigail Vallie, Madeline K Eiken, Meghan M Capeling, Rachel K Zwick, Brisa Palikuqi, Coralie Trentesaux, Joshua H Wu, Oscar Pellón-Cardenas, Charles J Zhang, Ian Glass, Claudia Loebel, Qianhui Yu, J Gray Camp, Jonathan Z Sexton, Ophir D Klein, Michael P Verzi, Jason R Spence | JCI insight | 2023 |
| Human selection bias drives the linear nature of the more ground truth effect in explainable deep learning optical coherence tomography image segmentation | Peter M Maloca, Maximilian Pfau, Lucas Janeschitz-Kriegl, Michael Reich, Lukas Goerdt, Frank G Holz, Philipp L Müller, Philippe Valmaggia, Katrin Fasler, Pearse A Keane, Javier Zarranz-Ventura, Sandrine Zweifel, Jonas Wiesendanger, Pascal Kaiser, Tim J Enz, Simon P Rothenbuehler, Pascal W Hasler, Marlene Juedes, Christian Freichel, Catherine Egan, Adnan Tufail, Hendrik P N Scholl, Nora Denk | Journal of biophotonics | 2023 |
| L-opsin expression in chickens is similarly reduced with diffusers and negative lenses | Sandra Gisbert, Siegfried Wahl, Frank Schaeffel | Vision research | 2023 |
| Empowering patients with high myopia: The significance of education | M Ravenstijn, R C Jansen, G du Bois, S Yzer, C C W Klaver | Acta ophthalmologica | 2023 |