Publications

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TitleAuthorsPublication Year
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
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
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
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
Corrigendum: Toward Retinal Organoids in High-Throughput Stefan Erich Spirig, Magdalena Renner Cold Spring Harbor perspectives in medicine 2023
Exposure to cyan or red light inhibits the axial growth of zebrafish eyes Wim H Quint, Renee van Buuren, Nina C C J Kokke, Magda A Meester-Smoor, Rob Willemsen, Rémy Broersma, Adriana I Iglesias, Marcel Lucassen, Caroline C W Klaver Experimental eye research 2023
Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications Ken Suzuki, Konstantinos Hatzikotoulas, Lorraine Southam, Henry J Taylor, Xianyong Yin, Kim M Lorenz, Ravi Mandla, Alicia Huerta-Chagoya, Nigel W Rayner, Ozvan Bocher, Ana Luiza de S V Arruda, Kyuto Sonehara, Shinichi Namba, Simon S K Lee, Michael H Preuss, Lauren E Petty, Philip Schroeder, Brett Vanderwerff, Mart Kals, Fiona Bragg, Kuang Lin, Xiuqing Guo, Weihua Zhang, Jie Yao, Young Jin Kim, Mariaelisa Graff, Fumihiko Takeuchi, Jana Nano, Amel Lamri, Masahiro Nakatochi, Sanghoon Moon, Robert A Scott, James P Cook, Jung-Jin Lee, Ian Pan, Daniel Taliun, Esteban J Parra, Jin-Fang Chai, Lawrence F Bielak, Yasuharu Tabara, Yang Hai, Gudmar Thorleifsson, Niels Grarup, Tamar Sofer, Matthias Wuttke, Chloé Sarnowski, Christian Gieger, Darryl Nousome, Stella Trompet, Soo-Heon Kwak, Jirong Long,... medRxiv : the preprint server for health sciences 2023
Posterior scleral birefringence measured by triple-input polarization-sensitive imaging as a biomarker of myopia progression Xinyu Liu, Liqin Jiang, Mengyuan Ke, Ian A Sigal, Jacqueline Chua, Quan V Hoang, Audrey Wi Chia, Raymond P Najjar, Bingyao Tan, Jocelyn Cheong, Valentina Bellemo, Rachel S Chong, Michaël J A Girard, Marcus Ang, Mengyang Liu, Gerhard Garhöfer, Veluchamy A Barathi, Seang-Mei Saw, Martin Villiger, Leopold Schmetterer Nature biomedical engineering 2023
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
Combining retinal structural and vascular measurements improves discriminative power for multiple sclerosis patients Mihai Bostan, Chi Li, Yin Ci Sim, Inna Bujor, Damon Wong, Bingyao Tan, Munirah Binte Ismail, Gerhard Garhöfer, Cristina Tiu, Ruxandra Pirvulescu, Leopold Schmetterer, Alina Popa-Cherecheanu, Jacqueline Chua Annals of the New York Academy of Sciences 2023
Ectopic expression of a mechanosensitive channel confers spatiotemporal resolution to ultrasound stimulations of neurons for visual restoration Sara Cadoni, Charlie Demené, Ignacio Alcala, Matthieu Provansal, Diep Nguyen, Dasha Nelidova, Guillaume Labernède, Jules Lubetzki, Ruben Goulet, Emma Burban, Julie Dégardin, Manuel Simonutti, Gregory Gauvain, Fabrice Arcizet, Olivier Marre, Deniz Dalkara, Botond Roska, José Alain Sahel, Mickael Tanter, Serge Picaud Nature nanotechnology 2023
Inhibitory top-down projections from zona incerta mediate neocortical memory Anna Schroeder, M Belén Pardi, Joram Keijser, Tamas Dalmay, Ayelén I Groisman, Erin M Schuman, Henning Sprekeler, Johannes J Letzkus Neuron 2023
Interreader Agreement and Longitudinal Progression of Incomplete/Complete Retinal Pigment Epithelium and Outer Retinal Atrophy in Age-Related Macular Degeneration Steffen Schmitz-Valckenberg, Marlene Saßmannshausen, Martina Braun, Verena Steffen, Simon S Gao, Lee Honigberg, Daniela Ferrara, Maximilian Pfau, Frank G Holz Ophthalmology. Retina 2023
Photoreceptor density in relation to axial length and retinal location in human eyes Songhomitra Panda-Jonas, Jost B Jonas, Rahul A Jonas Scientific reports 2022
Volume-rendered optical coherence tomography angiography during ocular interventions: Advocating for noninvasive intraoperative retinal perfusion monitoring Tim J Enz, Peter M Maloca, Markus Tschopp, Marcel N Menke, James R Tribble, Pete A Williams, Nadja Inglin, Ulrike Steitz, Hendrik P N Scholl, Anthia Papazoglou Journal of biophotonics 2022
Prevalence of diabetic retinopathy in urban and rural India: A systematic review and meta-analysis Anand Singh Brar, Jyotiranjan Sahoo, Umesh Chandra Behera, Jost B Jonas, Sobha Sivaprasad, Taraprasad Das Indian journal of ophthalmology 2022
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening Katya Nardou, Michael Nicolas, Fabien Kuttler, Katarina Cisarova, Elifnaz Celik, Mathieu Quinodoz, Nicolo Riggi, Olivier Michielin, Carlo Rivolta, Gerardo Turcatti, Alexandre Pierre Moulin Cancers 2022
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder Ji Hoon Han, Gavin Ryan, Alyson Guy, Lu Liu, Mathieu Quinodoz, Ingrid Helbling, Joey E Lai-Cheong, Genomics England Research Consortium, Julian Barwell, Marc Folcher, John A McGrath, Celia Moss, Carlo Rivolta Human molecular genetics 2022
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle,... PLoS genetics 2022
Axial Length and Choriocapillaris Flow Deficits in Non-pathological High Myopia Weijing Cheng, Yunhe Song, Xinbo Gao, Fengbin Lin, Fei Li, Peiyuan Wang, Kun Hu, Hao Li, Yingjie Li, Lina Chen, Jost B Jonas, Wei Wang, Xiulan Zhang, GSHM study group American journal of ophthalmology 2022
Diagnostic Accuracy of Macular Thickness Map and Texture En Face Images for Detecting Glaucoma in Eyes With Axial High Myopia Christopher Bowd, Akram Belghith, Jasmin Rezapour, Mark Christopher, Leslie Hyman, Jost B Jonas, Robert N Weinreb, Linda M Zangwill American journal of ophthalmology 2022
Outcome Measures for Disease Monitoring in Intraocular Inflammatory and Infectious Diseases (OCTOMERIA): Understanding the Choroid in Uveitis with Optical Coherence Tomography (OCT) Rupesh Agrawal, Rei Chern Weng, Alex Fonollosa, Lena Giralt, Joseba Artaraz, Peizeng Yang, Fanfan Huang, Bingyao Tan, Leopold Schmetterer, Alok Sen, Vishali Gupta, Wei Xin Ocular immunology and inflammation 2022
Imposed positive defocus changes choroidal blood flow in young human subjects Barbara Swiatczak, Frank Schaeffel, Giacomo Calzetti Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2022
Anisometropia and asymmetric ABCA4-related cone-rod dystrophy Cristina Santos, Andreia Almeida, Rita Pinto, Karolina Kaminska, Virginie G Peter, Ana-Berta Sousa, Carlo Rivolta, Luísa Coutinho-Santos Ophthalmic genetics 2022
IMAGING THE VITREOUS WITH A NOVEL BOOSTED OPTICAL COHERENCE TOMOGRAPHY TECHNIQUE: Posterior Vitreous Detachment Richard F Spaide, Philippe Valmaggia, Peter M Maloca Retina (Philadelphia, Pa.) 2022