Publications

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TitleAuthorsPublication Year
Generative adversarial networks in ophthalmology: what are these and how can they be used? Zhaoran Wang, Gilbert Lim, Wei Yan Ng, Pearse A Keane, J Peter Campbell, Gavin Siew Wei Tan, Leopold Schmetterer, Tien Yin Wong, Yong Liu, Daniel Shu Wei Ting Current opinion in ophthalmology 2021
Parsplana vitrectomy alone versus parsplana vitrectomy combined with phacoemulsification for the treatment of rhegmatogenous retinal detachment: a randomized study Paolo Mora, Stefania Favilla, Giacomo Calzetti, Giulia Berselli, Lucia Benatti, Arturo Carta, Stefano Gandolfi, Salvatore A Tedesco BMC ophthalmology 2021
Unraveling the deep learning gearbox in optical coherence tomography image segmentation towards explainable artificial intelligence Peter M Maloca, Philipp L Müller, Aaron Y Lee, Adnan Tufail, Konstantinos Balaskas, Stephanie Niklaus, Pascal Kaiser, Susanne Suter, Javier Zarranz-Ventura, Catherine Egan, Hendrik P N Scholl, Tobias K Schnitzer, Thomas Singer, Pascal W Hasler, Nora Denk Communications biology 2021
Association between Body Mass Index and Chronic Kidney Disease in Asian Populations: A Participant-level Meta-Analysis Bjorn Kaijun Betzler, Rehena Sultana, Riswana Banu, Yih Chung Tham, Cynthia Ciwei Lim, Ya Xing Wang, Vinay Nangia, E Shyong Tai, Tyler Hyungtaek Rim, Mukharram M Bikbov, Jost B Jonas, Ching-Yu Cheng, Charumathi Sabanayagam Maturitas 2021
A Model to Achieve International Excellence in Ophthalmology Through a Multidisciplinary and Integrated Approach: An Example in Orbital Diseases Research and Surgery Dennis S C Lam, Nishant Radke, Timothy P H Lin, Jost B Jonas Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) 2021
The Use of Neuroprotective Agents in Treating Geographic Atrophy Hendrik P N Scholl, David Boyer, Andrea Giani, Victor Chong Ophthalmic research 2021
The epidemiology of Moebius syndrome in Italy Arturo Carta, Stefania Favilla, Giacomo Calzetti, Maria Cristina Casalini, Pier Francesco Ferrari, Bernardo Bianchi, Maria Beatrice Simonelli, Roberta Farci, Stefano Gandolfi, Paolo Mora Orphanet journal of rare diseases 2021
Chromatin regulatory dynamics of early human small intestinal development using a directed differentiation model Yu-Han Hung, Sha Huang, Michael K Dame, Qianhui Yu, Qing C Yu, Yi A Zeng, J Gray Camp, Jason R Spence, Praveen Sethupathy Nucleic acids research 2021
Prevalence of Myopic Macular Features in Dutch Individuals of European Ancestry With High Myopia Annechien E G Haarman, Milly S Tedja, Corina Brussee, Clair A Enthoven, Gwyneth A van Rijn, Johannes R Vingerling, Jan E E Keunen, Camiel J F Boon, Annette J M Geerards, Gré P M Luyten, Virginie J M Verhoeven, Caroline C W Klaver JAMA ophthalmology 2021
Aqueous outflow channels and its lymphatic association: A review Arun Narayanaswamy, Sahil Thakur, Monisha E Nongpiur, Leopold Schmetterer, Young-Kwon Hong, Alex S Huang, Tina T Wong Survey of ophthalmology 2021
Enlargement of Geographic Atrophy From First Diagnosis to End of Life Johanna M Colijn, Bart Liefers, Nichole Joachim, Timo Verzijden, Magda A Meester-Smoor, Marc Biarnés, Jordi Monés, Paulus T V M de Jong, Johannes R Vingerling, Paul Mitchell, Clara I Sánchez, Jie J Wang, Caroline C W Klaver, EyeNED Reading Center and EYE-RISK Consortium JAMA ophthalmology 2021
Voltage distributions in extracellular brain recordings Nicholas V Swindale, Peter Rowat, Matthew Krause, Martin A Spacek, Catalin Mitelut Journal of neurophysiology 2021
The Application of Optical Coherence Tomography Angiography in Systemic Hypertension: A Meta-Analysis Wilson Tan, Xinwen Yao, Thu-Thao Le, Anna C S Tan, Carol Y Cheung, Calvin Woon Loong Chin, Leopold Schmetterer, Jacqueline Chua Frontiers in medicine 2021
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations Lance H Rodan, Rebecca C Spillmann, Harley T Kurata, Shawn M Lamothe, Jasmine Maghera, Rami Abou Jamra, Anna Alkelai, Stylianos E Antonarakis, Isis Atallah, Omer Bar-Yosef, Frédéric Bilan, Kathrine Bjorgo, Xavier Blanc, Patrick Van Bogaert, Yoav Bolkier, Lindsay C Burrage, Björn U Christ, Jorge L Granadillo, Patricia Dickson, Kirsten A Donald, Christèle Dubourg, Aviva Eliyahu, Lisa Emrick, Kendra Engleman, Michaela Veronika Gonfiantini, Jean-Marc Good, Judith Kalser, Chiara Kloeckner, Guus Lachmeijer, Marina Macchiaiolo, Francesco Nicita, Sylvie Odent, Emily O'Heir, Xilma Ortiz-Gonzalez, Marta Pacio-Miguez, María Palomares-Bralo, Loren Pena, Konrad Platzer, Mathieu Quinodoz, Emmanuelle Ranza, Jill A Rosenfeld, Eliane Roulet-Perez, Avni Santani, Fernando Santos-Simarro, Ben Pode-Shakked,... Genetics in medicine : official journal of the American College of Medical Genetics 2021
Longitudinal Changes of Fixation Stability and Location Within 24 Months in Stargardt Disease: ProgStar Report No. 16 Etienne M Schönbach, Rupert W Strauss, Marco E G V Cattaneo, Kaoru Fujinami, David G Birch, Artur V Cideciyan, Janet S Sunness, Eberhart Zrenner, SriniVas R Sadda, Hendrik P N Scholl, ProgStar Study Group American journal of ophthalmology 2021
IMI 2021 Yearly Digest Monica Jong, Jost B Jonas, James S Wolffsohn, David A Berntsen, Pauline Cho, Danielle Clarkson-Townsend, Daniel I Flitcroft, Kate L Gifford, Annechien E G Haarman, Machelle T Pardue, Kathryn Richdale, Padmaja Sankaridurg, Milly S Tedja, Christine F Wildsoet, Joan E Bailey-Wilson, Jeremy A Guggenheim, Christopher J Hammond, Jaakko Kaprio, Stuart MacGregor, David A Mackey, Anthony M Musolf, Caroline C W Klaver, Virginie J M Verhoeven, Veronique Vitart, Earl L Smith Investigative ophthalmology & visual science 2021
Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin Pike-See Cheah, Shilpa Prabhakar, David Yellen, Roberta L Beauchamp, Xuan Zhang, Shingo Kasamatsu, Roderick T Bronson, Elizabeth A Thiele, David J Kwiatkowski, Anat Stemmer-Rachamimov, Bence György, King-Hwa Ling, Masao Kaneki, Bakhos A Tannous, Vijaya Ramesh, Casey A Maguire, Xandra O Breakefield Science advances 2021
Multivariate Normative Comparison, a Novel Method for Improved Use of Retinal Nerve Fiber Layer Thickness to Detect Early Glaucoma Jacqueline Chua, Florian Schwarzhans, Damon Wong, Chi Li, Rahat Husain, Jonathan G Crowston, Shamira A Perera, Chelvin C A Sng, Monisha E Nongpiur, Shivani Majithia, Yih Chung Tham, Sahil Thakur, Zhi Da Soh, Ching-Yu Cheng, Tin Aung, Georg Fischer, Clemens Vass, Leopold Schmetterer Ophthalmology. Glaucoma 2021
Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients Stéphanie Bibert, Nicolas Guex, Joao Lourenco, Thomas Brahier, Matthaios Papadimitriou-Olivgeris, Lauro Damonti, Oriol Manuel, Robin Liechti, Lou Götz, Jonathan Tschopp, Mathieu Quinodoz, Peter Vollenweider, Jean-Luc Pagani, Mauro Oddo, Olivier Hügli, Frédéric Lamoth, Véronique Erard, Cathy Voide, Mauro Delorenzi, Nathalie Rufer, Fabio Candotti, Carlo Rivolta, Noémie Boillat-Blanco, Pierre-Yves Bochud, RegCOVID Study Group Frontiers in immunology 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder Daniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, Parham Habibzadeh, Olga A Levchenko, Pooneh Nikuei, Periklis Makrythanasis, Mureed Hussain, Sandra von Hardenberg, Sirous Zeinali, Mohammad-Sadegh Fallah, Janneke H M Schuurs-Hoeijmakers, Mohsin Shahzad, Fareeha Fatima, Neelam Fatima, Laura Donker Kaat, Hennie T Bruggenwirth, Leah R Fleming, John Condie, Rafal Ploski, Agnieszka Pollak, Jacek Pilch, Nina A Demina, Alena L Chukhrova, Vasilina S Sergeeva, Hanka Venselaar, Amira T Masri, Hanan Hamamy, Federico A Santoni, Katrin Linda, Zubair M Ahmed, Nael Nadif Kasri, Arjan P M de Brouwer, Anke K Bergmann, Sven Hethey, Majid Yavarian, Muhammad Ansar, Saima Riazuddin, Sheikh Riazuddin, Mohammad Silawi, Gaia Ruggeri, Filomena Pirozzi, Ebrahim Eftekhar, Afsaneh Taghipour Sheshdeh, Shima... Genetics in medicine : official journal of the American College of Medical Genetics 2021
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration Maria Lisa Dentici, Viola Alesi, Mathieu Quinodoz, Barbara Robens, Andrea Guerin, Sébastien Lebon, Annapurna Poduri, Lorena Travaglini, Federica Graziola, Alexandra Afenjar, Boris Keren, Valerio Licursi, Alessandro Capuano, Bruno Dallapiccola, Andrea Superti-Furga, Antonio Novelli Journal of medical genetics 2021
HTLV-1 infection promotes excessive T cell activation and transformation into adult T cell leukemia/lymphoma Benjy Jy Tan, Kenji Sugata, Omnia Reda, Misaki Matsuo, Kyosuke Uchiyama, Paola Miyazato, Vincent Hahaut, Makoto Yamagishi, Kaoru Uchimaru, Yutaka Suzuki, Takamasa Ueno, Hitoshi Suzushima, Hiroo Katsuya, Masahito Tokunaga, Yoshikazu Uchiyama, Hideaki Nakamura, Eisaburo Sueoka, Atae Utsunomiya, Masahiro Ono, Yorifumi Satou The Journal of clinical investigation 2021
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy Anita de Breuk, Thomas J Heesterbeek, Bjorn Bakker, Timo Verzijden, Yara T E Lechanteur, Caroline C W Klaver, Anneke I den Hollander, Carel B Hoyng JAMA ophthalmology 2021
Retinal microvasculature dysfunction is associated with Alzheimer’s disease and mild cognitive impairment Jacqueline Chua, Qinglan Hu, Mengyuan Ke, Bingyao Tan, Jimmy Hong, Xinwen Yao, Saima Hilal, Narayanaswamy Venketasubramanian, Gerhard Garhöfer, Carol Y Cheung, Tien Yin Wong, Christopher Li-Hsian Chen, Leopold Schmetterer Alzheimer's research & therapy 2020
Comparison of Current Optical Coherence Tomography Angiography Methods in Imaging Retinal Hemangioblastomas Michael Reich, Andreas Glatz, Daniel Boehringer, Charlotte Evers, Moritz Daniel, Felicitas Bucher, Franziska Ludwig, Simone Nuessle, Wolf A Lagrèze, Peter M Maloca, Clemens Lange, Thomas Reinhard, Hansjuergen Agostini, Stefan J Lang Translational vision science & technology 2020
Stentian structural plasticity in the developing visual system Tasnia N Rahman, Martin Munz, Elena Kutsarova, Olesia M Bilash, Edward S Ruthazer Proceedings of the National Academy of Sciences of the United States of America 2020
Challenges of BDNF-based therapies: From common to rare diseases Catarina Miranda-Lourenço, Leonor Ribeiro-Rodrigues, João Fonseca-Gomes, Sara R Tanqueiro, Rita F Belo, Catarina B Ferreira, Nádia Rei, Mafalda Ferreira-Manso, Carolina de Almeida-Borlido, Tiago Costa-Coelho, Céline Felicidade Freitas, Svitlana Zavalko, Francisco M Mouro, Ana M Sebastião, Sara Xapelli, Tiago M Rodrigues, Maria J Diógenes Pharmacological research 2020
Are choriocapillaris flow void features robust to diurnal variations? A swept-source optical coherence tomography angiography (OCTA) study Emily Lin, Mengyuan Ke, Bingyao Tan, Xinwen Yao, Damon Wong, Lirong Ong, Leopold Schmetterer, Jacqueline Chua Scientific reports 2020
Macular atrophy development in neovascular age-related macular degeneration during first year of treatment: Incidence and risk factors Mariana A Oliveira, Cláudia Farinha, Tiago M Rodrigues, Amélia Martins, Maria da Luz Cachulo, João Pedro Marques, Isabel Pires, Rufino Silva European journal of ophthalmology 2020
Cell Types of the Human Retina and Its Organoids at Single-Cell Resolution Cameron S Cowan, Magdalena Renner, Martina De Gennaro, Brigitte Gross-Scherf, David Goldblum, Yanyan Hou, Martin Munz, Tiago M Rodrigues, Jacek Krol, Tamas Szikra, Rachel Cuttat, Annick Waldt, Panagiotis Papasaikas, Roland Diggelmann, Claudia P Patino-Alvarez, Patricia Galliker, Stefan E Spirig, Dinko Pavlinic, Nadine Gerber-Hollbach, Sven Schuierer, Aldin Srdanovic, Marton Balogh, Riccardo Panero, Akos Kusnyerik, Arnold Szabo, Michael B Stadler, Selim Orgül, Simone Picelli, Pascal W Hasler, Andreas Hierlemann, Hendrik P N Scholl, Guglielmo Roma, Florian Nigsch, Botond Roska Cell 2020
Mutant Allele-Specific CRISPR Disruption in DYT1 Dystonia Fibroblasts Restores Cell Function Lilian Cruz, Bence György, Pike See Cheah, Benjamin P Kleinstiver, William A Eimer, Sara P Garcia, Nutan Sharma, Laurie J Ozelius, D Cristopher Bragg, J Keith Joung, Osmar Norberto de Souza, Luis Fernando Saraiva Macedo Timmers, Xandra O Breakefield Molecular therapy. Nucleic acids 2020
Genetic Risk, Lifestyle, and Age-Related Macular Degeneration in Europe: The EYE-RISK Consortium Johanna M Colijn, Magda Meester-Smoor, Timo Verzijden, Anita de Breuk, Rufino Silva, Benedicte M J Merle, Audrey Cougnard-Grégoire, Carel B Hoyng, Sascha Fauser, Anthonius Coolen, Catherine Creuzot-Garcher, Hans-Werner Hense, Marius Ueffing, Cecile Delcourt, Anneke I den Hollander, Caroline C W Klaver, EYE-RISK Consortium Ophthalmology 2020
Novel Approaches for Imaging-Based Diagnosis of Ocular Surface Disease Doreen Schmidl, Andreas Schlatter, Jacqueline Chua, Bingyao Tan, Gerhard Garhöfer, Leopold Schmetterer Diagnostics (Basel, Switzerland) 2020
Genome and base editing for genetic hearing loss Philipp Niggemann, Bence György, Zheng-Yi Chen Hearing research 2020
The human Descemet’s membrane and lens capsule: Protein composition and biomechanical properties Willi Halfter, Suzette Moes, Kathrin Halfter, Monica S Schoenenberger, Christophe A Monnier, Joanna Kalita, Daphne Asgeirsson, Tatjana Binggeli, Paul Jenoe, Hendrik P N Scholl, Paul Bernhard Henrich Experimental eye research 2020
New Technologies in Clinical Trials in Corneal Diseases and Limbal Stem Cell Deficiency: Review from the European Vision Institute Special Interest Focus Group Meeting Simona L Schlereth, Deniz Hos, Mario Matthaei, Pedram Hamrah, Leopold Schmetterer, Olivia O'Leary, Christoph Ullmer, Jens Horstmann, Felix Bock, Katrin Wacker, Hannes Schröder, Maria Notara, Michel Haagdorens, Rudy M M A Nuijts, Suryan L Dunker, Mor M Dickman, Sascha Fauser, Hendrik P N Scholl, Thomas Wheeler-Schilling, Claus Cursiefen Ophthalmic research 2020
Response to ‘Comment on: Macular OCT-angiography parameters to predict the clinical stage of nonproliferative diabetic retinopathy: an exploratory analysis’ Tiago M Rodrigues, João P Marques, Rufino Silva Eye (London, England) 2020
Response to Dr. Watts letter on “The impact of computer use on myopia development in childhood” Clair A Enthoven, Caroline C W Klaver Preventive medicine 2020
Restoring light sensitivity using tunable near-infrared sensors Dasha Nelidova, Rei K Morikawa, Cameron S Cowan, Zoltan Raics, David Goldblum, Hendrik P N Scholl, Tamas Szikra, Arnold Szabo, Daniel Hillier, Botond Roska Science (New York, N.Y.) 2020
New variants and in silico analyses in GRK1 associated Oguchi disease James A Poulter, Molly S C Gravett, Rachel L Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Elfride De Baere, Bart P Leroy, Nigel P Davies, Robert H Henderson, Andrew R Webster, Carlo Rivolta, Christina Zeitz, Omar A Mahroo, Gavin Arno, Graeme C M Black, Martin McKibbin, Sarah A Harris, Kamron N Khan, Chris F Inglehearn Human mutation 2020
A 3D model to evaluate retinal nerve fiber layer thickness deviations caused by the displacement of optical coherence tomography circular scans in cynomolgus monkeys (Macaca fascicularis) Stephanie Niklaus, Pascal W Hasler, Timothy Bryant, Sébastien Desgent, Mark Vezina, Tobias K Schnitzer, Peter M Maloca, Nora Denk PloS one 2020
Striking Funduscopic Findings in a Patient after Drug-Supported Sexual Activity Alexandra Steinemann, Maria Della Volpe Waizel, Despoina Sagri, Nikos Kozeis, Christian Pruente, Hendrik P N Scholl, Zisis Gatzioufas Klinische Monatsblatter fur Augenheilkunde 2020
Clearance of neurotoxic peptides and proteins by meningothelial cells Charles Hemion, Jia Li, Corina Kohler, Hendrik P N Scholl, Peter Meyer, Hanspeter E Killer, Albert Neutzner Experimental cell research 2020
Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants Shinji Ueno, Yoshito Koyanagi, Taro Kominami, Yasuki Ito, Kenichi Kawano, Koji M Nishiguchi, Carlo Rivolta, Toru Nakazawa, Koh-Hei Sonoda, Hiroko Terasaki Japanese journal of ophthalmology 2020
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Riet De Rycke, Jan De Bleecker, David Creytens, Jo Van Dorpe, Jan Gerris, Claus Bachert, Christiane Neuhofer, Sophie Walraedt, Almut Bischoff, Lotte B Pedersen, Thomas Klopstock, Carlo Rivolta, Bart P Leroy, Elfride De Baere, Frauke Coppieters Human mutation 2020
Genomic and transcriptomic landscape of conjunctival melanoma Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini-Gobert, Virginie G Peter, Beryl Royer-Bertrand, Leonidas Zografos, Ann Schalenbourg, Michael Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta PLoS genetics 2020
Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors Vincent Lhussiez, Elisabeth Dubus, Quénol Cesar, Niyazi Acar, Emeline F Nandrot, Manuel Simonutti, Isabelle Audo, Eléonore Lizé, Sylvie Nguyen, Audrey Geissler, André Bouchot, Muhammad Ansar, Serge Picaud, Christel Thauvin-Robinet, Laurence Olivier-Faivre, Laurence Duplomb, Romain Da Costa Investigative ophthalmology & visual science 2020
Association Between Structure-function Characteristics and Visual Field Outcomes in Glaucoma Subjects With Intraocular Pressure Reduction After Trabeculectomy Aistė Kadziauskienė, Jacqueline Chua, Mani Baskaran, Ai Ping Yow, Bingyao Tan, Chelvin Sng, Rimvydas Ašoklis, Eugenijus Lesinskas, Jonathan Crowston, Leopold Schmetterer, Damon Wing Kee Wong Journal of glaucoma 2020
Sequencing perturbed cortex development Barbara Treutlein, J Gray Camp Science (New York, N.Y.) 2020
New Frontiers in Noninvasive Analysis of Retinal Wall-to-Lumen Ratio by Retinal Vessel Wall Analysis Lukas Streese, Lukas Y Brawand, Konstantin Gugleta, Peter M Maloca, Walthard Vilser, Henner Hanssen Translational vision science & technology 2020