Publications

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TitleAuthorsPublication Year
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
Cell type-focused compound screen in human organoids reveals CK1 inhibition protects cone photoreceptors from death Stefan E. Spirig, Álvaro Herrero-Navarro, Larissa Utz, Valeria J. Arteaga-Moreta, Zoltan Raics, Susana Posada-Céspedes, Stephanie Chreng, Olaf Galuba, Inga Galuba, Isabelle Claerr, Steffen Renner, Miklos Boldogkoi, Verónica Moreno-Juan, P. Timo Kleindienst, Adrienn Volak, Jannick Imbach, Svitlana Malysheva, Rebecca A. Siwicki, Vincent Hahaut, Yanyan Hou, Tiago M. Rodrigues, Simone Picelli, Marco Cattaneo, Josephine Jüttner, Cameron S. Cowan, Myriam Duckely, Daniel K. Baeschlin, Magdalena Renner, Vincent Unterreiner, Botond Roska Neuron 2026
Cell type-targeted mitochondrial transplantation rescues cell degeneration Temurkhan Ayupov, Verónica Moreno-Juan, Serena Curtoni, Alex Fratzl, Upnishad Sharma, Susana Posada-Céspedes, Ramona Ratiu, Rei Morikawa, Alexandra Graff Meyer, Margherita Pezzoli, Glenn Bantug, Morgan Chevalier, Yanyan Hou, Sarah A. Nadeau, Álvaro Herrero-Navarro, Vikram Ayinampudi, Elizabeth Kastanaki, Natasha Whitehead, Rebecca A. Siwicki, Mariana M. Ribeiro, Ji Hoon Han, Annalisa Bucci, Christoph Hess, Simone Picelli, Magdalena Renner, Daniel J. Müller, Cameron S. Cowan, Simon Hansen, Botond Roska Nature 2026
Programmable delivery of mitochondria to specific cell types Temurkhan Ayupov Nature Reviews Molecular Cell Biology 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa Mathieu Quinodoz, et al. Nature Genetics 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
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
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
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
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
Comparison of Novel Volumetric Microperimetry Metrics in Intermediate Age-Related Macular Degeneration: PINNACLE Study Report 3 Philipp Anders, Ghislaine L Traber, Maximilian Pfau, Sophie Riedl, Ahmed M Hagag, Hanna Camenzind, Julia Mai, Rebecca Kaye, Hrvoje Bogunovic, Lars G Fritsche, Daniel Rueckert, Ursula Schmidt-Erfurth, Sobha Sivaprasad, Andrew J Lotery, Hendrik P N Scholl Translational vision science & technology 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-Global Trends in Myopia Management Attitudes and Strategies in Clinical Practice-2022 Update James S Wolffsohn, Yasmin Whayeb, Nicola S Logan, Rebecca Weng, International Myopia Institute Ambassador Group* Investigative ophthalmology & visual science 2023
Classification of Tear Film Lipid Layer En Face Maps Obtained Using Optical Coherence Tomography and Their Correlation With Clinical Parameters Hannes Stegmann, Valentin Aranha Dos Santos, Doreen Schmidl, Gerhard Garhöfer, Ali Fard, Homayoun Bagherinia, Leopold Schmetterer, René M Werkmeister Cornea 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
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
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
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
Parapapillary drusen of the retinal pigment epithelium Jost B Jonas, Rahul A Jonas, Shefali B Jonas, Songhomitra Panda-Jonas Acta ophthalmologica 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
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
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