| 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 |
| In-sensor cryptographic signature generation for linking a physical process and an immutable digital entity | Fernando Cardes, Sebastian Bürgel, Xinyue Yuan, Qianchen Yu, Arianna Rubino, Jihyun Lee, Raziyeh Bounik, Vijay Viswam, Andreas Hierlemann, Felix Franke | Nature Electronics | 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 |
| 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 |
| PEGDA-based HistoBrick for increasing throughput of cryosectioning and immunohistochemistry in organoid and small tissue studies | Emilie Vuille-Dit-Bille, Larissa Utz, Fiona E Müllner, Valeria J Arteaga-Moreta, Yanyan Hou, Stefan E Spirig, Diane Ledroit-Paic, Sarah Heub, Jonas Goldowsky, Gilles Weder, Magdalena Renner | Sci Rep. | 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 |
| RetiGene, a comprehensive gene atlas for inherited retinal diseases | Carlo Rivolta, Elifnaz Celik, Dhryata Kamdar, Francesca Cancellieri, Karolina Kaminska, Mukhtar Ullah, Pilar Barberán-Martínez, Manon Bouckaert, Marta Cortón, Emma Delanote, Lidia Fernández-Caballero, Gema García García, Lara K. Holtes, Marianthi Karali, Irma Lopez, Virginie G. Peter, Nina Schneider, Lieselot Vincke, Carmen Ayuso, Sandro Banfi, Beatrice Bocquet, Frauke Coppieters, Frans P.M. Cremers, Chris F. Inglehearn, Takeshi Iwata, Vasiliki Kalatzis, Robert K. Koenekoop, José M. Millán, Dror Sharon, Carmel Toomes, Mathieu Quinodoz | Am J Hum Genet. | 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 |
| 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 |
| Choriocapillaris, Photoreceptors, and Inner Retinal Layer in Spatial Relationship to Parapapillary Alpha, Beta, Gamma, and Delta Zones | Jost B Jonas, Rahul A Jonas, Shefali B Jonas, Songhomitra Panda-Jonas | Investigative ophthalmology & visual science | 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 |
| 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 |
| Subject-specific whole-brain parcellations of nodes and boundaries are modulated differently under 10 Hz rTMS | Vladimir Belov, Vladislav Kozyrev, Aditya Singh, Matthew D Sacchet, Roberto Goya-Maldonado | Scientific reports | 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 |
| 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 |
| Validation of collaborative cyberspace virtual reality oculometry enhanced with near real-time spatial audio | Peter M Maloca, Javier Zarranz-Ventura, Philippe Valmaggia, Balázs Faludi, Marek Zelechowski, Adnan Tufail, Norbert Z Zentai, Hendrik P N Scholl, Philippe C Cattin | 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 |
| Correction to: Expansion Microscopy of Mouse Photoreceptor Cilia | Abigail R Moye, Michael A Robichaux, Theodore Wensel | Advances in experimental medicine and biology | 2023 |
| TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa | Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik Pn Scholl, Marta Corton, Carmen Ayuso, Jose M Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis | JCI insight | 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 |
| Low-Concentration Atropine Eye Drops for Myopia Progression | Jason C Yam, Jost B Jonas, Dennis S C Lam | Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) | 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 of depression, anxiety and suicidal ideas and associated factors, in particular sensory impairments, in a population of Bashkortostan in Russia | Mukharram M Bikbov, Timur R Gilmanshin, Gyulli M Kazakbaeva, Ellina M Iakupova, Songhomitra Panda-Jonas, Rinat M Zainullin, Albina A Fakhretdinova, Azaliia M Tuliakova, Leisan I Gilemzianova, Dinar A Khakimov, Liana A Miniazeva, Jost B Jonas | Scientific reports | 2023 |
| ON and OFF receptive field processing in the presence of optical scattering | Katharina Breher, Antonia Neumann, Dominik Kurth, Frank Schaeffel, Siegfried Wahl | Biomedical optics express | 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 |