| Title | Authors | Publication | Year |
|---|
| 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 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening | Alexey Koval, Yonika A Larasati, Mikhail Savitsky, Gonzalo P Solis, Jean-Marc Good, Mathieu Quinodoz, Carlo Rivolta, Andrea Superti-Furga, Vladimir L Katanaev | Med (New York, N.Y.) | 2023 |
| Prevalence and Associations of Nonglaucomatous Optic Nerve Atrophy in High Myopia: The Ural Eye and Medical Study | Mukharram M Bikbov, Ellina M Iakupova, Timur R Gilmanshin, Guzel M Bikbova, Gyulli M Kazakbaeva, Songhomitra Panda-Jonas, Leisan I Gilemzianova, Jost B Jonas | Ophthalmology | 2023 |
| Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families | Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E Rawlins, Emma L Baple, Andrew H Crosby, Shamim Saleha | BMC ophthalmology | 2023 |
| Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis | Daan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, Suzanne E de Bruijn, Janine Reurink, Erica G M Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M Nishiguchi, James A Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A H J Thiadens, Carmel Toomes, Anna M Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J M Verhoeven, Maartje van de... | Frontiers in cell and developmental biology | 2023 |
| Laser-Induced Chorioretinal Anastomosis in Neurofibromatosis Type 1 | Jakob Bjerager, Pascal W Hasler, Peter M Maloca, Simon P Rothenbuehler | JAMA ophthalmology | 2023 |
| Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing | Annechien E G Haarman, Caroline C W Klaver, Milly S Tedja, Susanne Roosing, Galuh Astuti, Christian Gilissen, Lies H Hoefsloot, Marianne van Tienhoven, Tom Brands, Frank J Magielsen, Bert H J F M M Eussen, Annelies de Klein, Erwin Brosens, Virginie J M Verhoeven | Ophthalmology science | 2023 |
| Prevalence and Associations of Peripheral Arterial Disease in China. The Beijing Eye Study | Ya Xing Wang, Qian Wang, Rahul Jonas, Jost B Jonas | American journal of ophthalmology | 2023 |
| Exploring Healthy Retinal Aging with Deep Learning | Martin J Menten, Robbie Holland, Oliver Leingang, Hrvoje Bogunović, Ahmed M Hagag, Rebecca Kaye, Sophie Riedl, Ghislaine L Traber, Osama N Hassan, Nick Pawlowski, Ben Glocker, Lars G Fritsche, Hendrik P N Scholl, Sobha Sivaprasad, Ursula Schmidt-Erfurth, Daniel Rueckert, Andrew J Lotery | Ophthalmology science | 2023 |
| Spontaneous activity in cortical neurons is stereotyped and non-Poisson | Nicholas V Swindale, Martin A Spacek, Matthew Krause, Catalin Mitelut | Cerebral cortex (New York, N.Y. : 1991) | 2023 |
| Parapapillary drusen of the retinal pigment epithelium | Jost B Jonas, Rahul A Jonas, Shefali B Jonas, Songhomitra Panda-Jonas | Acta ophthalmologica | 2023 |
| GABAB Receptor Activation Affects Eye Growth in Chickens with Visually Induced Refractive Errors | Hong Liu, Frank Schaeffel, Zhikuan Yang, Marita Pauline Feldkaemper | Biomolecules | 2023 |
| mTORC1 Signaling and Negative Lens-Induced Axial Elongation | Ruiheng Zhang, Li Dong, Haotian Wu, Xuhan Shi, Wenda Zhou, Heyan Li, Yitong Li, Chuyao Yu, Yifan Li, Yao Nie, Lei Shao, Chuan Zhang, Yueming Liu, Jost B Jonas, Wenbin Wei, Qiong Yang | Investigative ophthalmology & visual science | 2023 |
| SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland | Faady Yahya, Pascal Escher, Carlo Rivolta, Hendrik Pn Scholl, Francoise Roulez | Klinische Monatsblatter fur Augenheilkunde | 2023 |
| Blue Light Exposure: Ocular Hazards and Prevention-A Narrative Review | Audrey Cougnard-Gregoire, Bénédicte M J Merle, Tariq Aslam, Johanna M Seddon, Isabelle Aknin, Caroline C W Klaver, Gerhard Garhöfer, Alfredo Garcia Layana, Angelo Maria Minnella, Rufino Silva, Cécile Delcourt | Ophthalmology and therapy | 2023 |
| Optogenetic Vision Restoration | Volker Busskamp, Botond Roska, Jose-Alain Sahel | Cold Spring Harbor perspectives in medicine | 2023 |
| Author Correction: The power of genetic diversity in genome-wide association studies of lipids | Sarah E Graham, Shoa L Clarke, Kuan-Han H Wu, Stavroula Kanoni, Greg J M Zajac, Shweta Ramdas, Ida Surakka, Ioanna Ntalla, Sailaja Vedantam, Thomas W Winkler, Adam E Locke, Eirini Marouli, Mi Yeong Hwang, Sohee Han, Akira Narita, Ananyo Choudhury, Amy R Bentley, Kenneth Ekoru, Anurag Verma, Bhavi Trivedi, Hilary C Martin, Karen A Hunt, Qin Hui, Derek Klarin, Xiang Zhu, Gudmar Thorleifsson, Anna Helgadottir, Daniel F Gudbjartsson, Hilma Holm, Isleifur Olafsson, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M Brumpton, Humaira Rasheed, Sanni E Ruotsalainen, Aki S Havulinna, Yogasudha Veturi, QiPing Feng, Elisabeth A Rosenthal, Todd Lingren, Jennifer Allen Pacheco, Sarah A Pendergrass, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E Miller, Archie... | Nature | 2023 |
| The inflammatory potential of diet is associated with the risk of age-related eye diseases | Joëlle E Vergroesen, Eric F Thee, Tosca O E de Crom, Jessica C Kiefte-de Jong, Magda A Meester-Smoor, Trudy Voortman, Caroline C W Klaver, Wishal D Ramdas | Clinical nutrition (Edinburgh, Scotland) | 2023 |
| Deep phenotyping of PROM1-associated retinal degeneration | Gernot Schließleder, Angelos Kalitzeos, Melissa Kasilian, Navjit Singh, Ziyuan Wang, Zhihong Hu, Manuel Großpötzl, SriniVas Sadda, Andreas Wedrich, Michel Michaelides, Rupert W Strauss | The British journal of ophthalmology | 2023 |
| Myopic axial elongation in school children and the COVID-19 lockdown in Russia: The Ural Children Myopia Study | Mukharram M Bikbov, Gyulli M Kazakbaeva, Albina A Fakhretdinova, Azaliia M Tuliakova, Ellina M Rakhimova, Songhomitra Panda-Jonas, Leisan I Gilemzianova, Liana A Garipova, Dinar A Khakimov, Jost B Jonas | PloS one | 2023 |
| Three-Dimensional Structural Phenotype of the Optic Nerve Head as a Function of Glaucoma Severity | Fabian A Braeu, Thanadet Chuangsuwanich, Tin A Tun, Shamira A Perera, Rahat Husain, Aiste Kadziauskiene, Leopold Schmetterer, Alexandre H Thiéry, George Barbastathis, Tin Aung, Michaël J A Girard | JAMA ophthalmology | 2023 |
| Advances in Diagnosis and Therapy of Retinal Diseases | Jost B Jonas, Dennis S C Lam | Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) | 2023 |
| Expansion Microscopy of Mouse Photoreceptor Cilia | Abigail R Moye, Michael A Robichaux, Theodore Wensel | Advances in experimental medicine and biology | 2023 |
| iOCT-Assisted DSAEK Tamponade for Spontaneous Corneal Perforation with Secondary Bleb Formation in Pellucid Marginal Degeneration | Aja Reinhold, Pascal W Hasler, Hendrik P N Scholl, Zisis Gatzioufas | Klinische Monatsblatter fur Augenheilkunde | 2023 |