| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Optic Nerve Head Abnormalities in Nonpathologic High Myopia and the Relationship With Visual Field | Jingwen Jiang, Yunhe Song, Kangjie Kong, Peiyuan Wang, Fengbin Lin, Xinbo Gao, Zhenyu Wang, Ling Jin, Meiling Chen, Dennis S C Lam, Robert N Weinreb, Jost B Jonas, Kyoko Ohno-Matsui, Shida Chen, Xiulan Zhang, Glaucoma Suspects with High Myopia Study Group | Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) | 2023 |
| Pyramidal neurons form active, transient, multilayered circuits perturbed by autism-associated mutations at the inception of neocortex | Martin Munz, Arjun Bharioke, Georg Kosche, Verónica Moreno-Juan, Alexandra Brignall, Tiago M Rodrigues, Alexandra Graff-Meyer, Talia Ulmer, Stephanie Haeuselmann, Dinko Pavlinic, Nicole Ledergerber, Brigitte Gross-Scherf, Balázs Rózsa, Jacek Krol, Simone Picelli, Cameron S Cowan, Botond Roska | Cell | 2023 |
| A Unique Presentation of Bilateral Chorioretinal Atrophy | Andrea Grosso, Lawrence A Yannuzzi, Stephen H Tsang, Piero Ceruti, David Sarraf, Ehud Zamir, Karolina Kaminska, Mathieu Quinodoz, Antonio Amoroso, Silvia Deaglio, Jasmine H Francis, Mauro Fioretto, Carlo Rivolta, Giacomo Calzetti | Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) | 2023 |
| Incidence and Risk Factors of Second Eye Involvement in Myopic Macular Neovascularization | Monica Ravenstijn, Caroline C W Klaver, Suzanne Yzer | Ophthalmology. Retina | 2023 |
| A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family | Nobia Aziz, Mukhtar Ullah, Abdur Rashid, Zubair Hussain, Khadim Shah, Azeem Awan, Muhammad Khan, Inam Ullah, Atta Ur Rehman | BMC ophthalmology | 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 |
| Higher testosterone is associated with open-angle glaucoma in women: a genetic predisposition? | Joëlle E Vergroesen, Adem Kaynak, Elif Aribas, Maryam Kavousi, Joyce B J van Meurs, Caroline C W Klaver, Wishal D Ramdas | Biology of sex differences | 2023 |
| Diabetes Medication to Reduce Age-Related Eye Disorders Beyond Glucose Control-Reply | Joëlle E Vergroesen, Caroline C W Klaver, Wishal D Ramdas | JAMA ophthalmology | 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 |
| Impact of lesion location and functional parameters on vision-related quality of life in geographic atrophy secondary to AMD | Sandrine H Künzel, Eliza Broadbent, Philipp T Möller, Moritz Lindner, Lukas Goerdt, Joanna Czauderna, Steffen Schmitz-Valckenberg, Frank G Holz, Maximilian Pfau, Monika Fleckenstein | medRxiv : the preprint server for health sciences | 2023 |
| A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration | Rosie Clark, Samantha Sze-Yee Lee, Ran Du, Yining Wang, Sander C M Kneepkens, Jason Charng, Yu Huang, Michael L Hunter, Chen Jiang, J Willem L Tideman, Ronald B Melles, Caroline C W Klaver, David A Mackey, Cathy Williams, Hélène Choquet, Kyoko Ohno-Matsui, Jeremy A Guggenheim, CREAM Consortium, UK Biobank Eye and Vision Consortium | EBioMedicine | 2023 |
| A view from the clinic – Perspectives from Dutch patients and professionals on high myopia care | Monica Ravenstijn, Gerlof du Bois, Ritsert C Jansen, Chang Liu, Gregorius P M Luyten, Redmer van Leeuwen, Mor M Dickman, Nic J Reus, Suzanne Yzer, Caroline C W Klaver | Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) | 2023 |
| A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing | Mukhtar Ullah, Atta Ur Rehman, Marc Folcher, Adnan Ullah, Faisal Usman, Abdur Rashid, Bilal Khan, Mathieu Quinodoz, Muhammad Ansar, Carlo Rivolta | Ophthalmic research | 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 |
| Chronic limb threatening disease, diabetic nephropathy and diabetic retinopathy in patients with type 1 diabetes | Jost B Jonas | The Lancet regional health. Europe | 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 |
| 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 |
| Multimodal spatiotemporal phenotyping of human retinal organoid development | Philipp Wahle, Giovanna Brancati, Christoph Harmel, Zhisong He, Gabriele Gut, Jacobo Sarabia Del Castillo, Aline Xavier da Silveira Dos Santos, Qianhui Yu, Pascal Noser, Jonas Simon Fleck, Bruno Gjeta, Dinko Pavlinić, Simone Picelli, Max Hess, Gregor W Schmidt, Tom T A Lummen, Yanyan Hou, Patricia Galliker, David Goldblum, Marton Balogh, Cameron S Cowan, Hendrik P N Scholl, Botond Roska, Magdalena Renner, Lucas Pelkmans, Barbara Treutlein, J Gray Camp | Nature biotechnology | 2023 |
| Myopic macular Bruch’s membrane defects | Songhomitra Panda-Jonas, Gerd U Auffarth, Jost B Jonas, Rahul A Jonas | Heliyon | 2023 |
| Corrigendum: Toward Retinal Organoids in High-Throughput | Stefan Erich Spirig, Magdalena Renner | Cold Spring Harbor perspectives in medicine | 2023 |
| Intravitreal Short-Hairpin RNA Attenuated Adeno-Associated Virus-Induced Knockdown of Amphiregulin and Axial Elongation in Experimental Myopia | Li Dong, Rui-Heng Zhang, Hao-Tian Wu, He-Yan Li, Wen-Da Zhou, Xu-Han Shi, Chu-Yao Yu, Yi-Tong Li, Yi-Fan Li, Jost B Jonas, Wen-Bin Wei | Investigative ophthalmology & visual science | 2023 |
| Brolucizumab in Neovascular Age-Related Macular Degeneration and Diabetic Macular Edema: Ophthalmology and Diabetology Treatment Aspects | Justus G Garweg, Claudine A Blum, René-Pierre Copt, Chiara M Eandi, Katja Hatz, Christian F Prünte, Eleonora Seelig, Gábor M Somfai | Ophthalmology and therapy | 2023 |