Publications

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TitleAuthorsPublication Year
Resolving Neurodevelopmental and Vision Disorders Using Organoid Single-Cell Multi-omics Giovanna Brancati, Barbara Treutlein, J Gray Camp Neuron 2020
Successful Treatment of Peripheral Proliferative Vitreoretinopathy with Cryocoagulation During Retinal Detachment Repair – A New Surgical Technique Josef Guber, Corina Lang, Hendrik P N Scholl, Ivo Guber, Christophe Valmaggia Clinical ophthalmology (Auckland, N.Z.) 2020
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Sohail A Paracha, Maleeha Azam, Ilse Kern, Justyna Iwaszkiewicz, Omer Farooq, Constantin J Pournaras, Ariane Malcles, Mateusz Kecik, Carlo Rivolta, Waqar Muzaffar, Aziz Qurban, Liaqat Ali, Yacine Aggoun, Federico A Santoni, Periklis Makrythanasis, Jawad Ahmed, Raheel Qamar, Muhammad T Sarwar, L Keith Henry, Stylianos E Antonarakis Human molecular genetics 2020
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV Virginie G Peter, Mathieu Quinodoz, Silvia Sadio, Sebastian Held, Márcia Rodrigues, Marta Soares, Ana Berta Sousa, Luisa Coutinho Santos, Markus Damme, Carlo Rivolta Human mutation 2020
Interactions of cone abundancies, opsin expression, and environmental lighting with emmetropization in chickens Sandra Gisbert, Marita Feldkaemper, Siegfried Wahl, Frank Schaeffel Experimental eye research 2020
Multimodal Imaging of a Case of Juxtapapillary Retinal Capillary Hemangioma Mariana A Oliveira, Tiago M Rodrigues, João Pedro Marques Ophthalmology. Retina 2020
Risk of Inflammation, Retinal Vasculitis, and Retinal Occlusion-Related Events with Brolucizumab: Post Hoc Review of HAWK and HARRIER Jordi Monés, Sunil K Srivastava, Glenn J Jaffe, Ramin Tadayoni, Thomas A Albini, Peter K Kaiser, Frank G Holz, Jean-Francois Korobelnik, Ivana K Kim, Christian Pruente, Timothy G Murray, Jeffrey S Heier Ophthalmology 2020
Optic nerve head and peripapillary perfusion as assessed with laser speckle flowgraphy in non-arteritic anterior ischaemic optic neuropathy Giacomo Calzetti, Paolo Mora, Alessandro Romani, Giorgia Ottonelli, Alessandra Pareti, Stefano Gandolfi, Leopold Schmetterer, Arturo Carta Acta ophthalmologica 2020
Novel insights into retinal neovascularization secondary to central serous chorioretinopathy using 3D optical coherence tomography angiography Markus Gruber, Julian Wolf, Andreas Stahl, Thomas Ness, Henrik Scholl, Hansjuergen Agostini, Peter Maloca, Clemens Lange American journal of ophthalmology case reports 2020
A 3-year follow-up study of atropine treatment for progressive myopia in Europeans Jan Roelof Polling, Emily Tan, Sjoerd Driessen, Sjoukje E Loudon, Hoi-Lam Wong, Astrid van der Schans, J Willem L Tideman, Caroline C W Klaver Eye (London, England) 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs Nicola Bedoni, Mathieu Quinodoz, Michele Pinelli, Gerarda Cappuccio, Annalaura Torella, Vincenzo Nigro, Francesco Testa, Francesca Simonelli, TUDP (Telethon Undiagnosed Disease Program), Marta Corton, Susanna Lualdi, Federica Lanza, Giovanni Morana, Carmen Ayuso, Maja Di Rocco, Mirella Filocamo, Sandro Banfi, Nicola Brunetti-Pierri, Andrea Superti-Furga, Carlo Rivolta Human molecular genetics 2020
Mapping Development of the Human Intestinal Niche at Single-Cell Resolution Emily M Holloway, Michael Czerwinski, Yu-Hwai Tsai, Joshua H Wu, Angeline Wu, Charlie J Childs, Katherine D Walton, Caden W Sweet, Qianhui Yu, Ian Glass, Barbara Treutlein, J Gray Camp, Jason R Spence Cell stem cell 2020
Artificial intelligence in ophthalmology : Guidelines for physicians for the critical evaluation of studies Maximilian Pfau, Guenther Walther, Leon von der Emde, Philipp Berens, Livia Faes, Monika Fleckenstein, Tjebo F C Heeren, Karsten Kortüm, Sandrine H Künzel, Philipp L Müller, Peter M Maloca, Sebastian M Waldstein, Maximilian W M Wintergerst, Steffen Schmitz-Valckenberg, Robert P Finger, Frank G Holz Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft 2020
Genotype- and Phenotype-Based Subgroups in Geographic Atrophy Secondary to Age-Related Macular Degeneration: The EYE-RISK Consortium Marc Biarnés, Johanna M Colijn, Jose Sousa, Lucia L Ferraro, Míriam Garcia, Timo Verzijden, Magda A Meester-Smoor, Cécile Delcourt, Caroline C W Klaver, Anneke I den Hollander, Imre Lengyel, Tunde Peto, Jordi Monés, EYE-RISK Consortium Ophthalmology. Retina 2020
Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies Arash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, Mathieu Quinodoz, Nasser Shoeibi, Majid Mojarrad, Alireza Pasdar, Carlo Rivolta Scientific reports 2020
Validation of virtual reality orbitometry bridges digital and physical worlds Peter M Maloca, Balázs Faludi, Marek Zelechowski, Christoph Jud, Theo Vollmar, Sibylle Hug, Philipp L Müller, Emanuel Ramos de Carvalho, Javier Zarranz-Ventura, Michael Reich, Clemens Lange, Catherine Egan, Adnan Tufail, Pascal W Hasler, Hendrik P N Scholl, Philippe C Cattin Scientific reports 2020
In Vitro and In Vivo Development of the Human Airway at Single-Cell Resolution Alyssa J Miller, Qianhui Yu, Michael Czerwinski, Yu-Hwai Tsai, Renee F Conway, Angeline Wu, Emily M Holloway, Taylor Walker, Ian A Glass, Barbara Treutlein, J Gray Camp, Jason R Spence Developmental cell 2020
The extracellular matrix composition of the optic nerve subarachnoid space Jie Hao, Corina Kohler, Hubrecht van den Dorpel, Hendrik P N Scholl, Peter Meyer, Hanspeter E Killer, Albert Neutzner Experimental eye research 2020
Optical Coherence Tomography Angiography in Diabetes and Diabetic Retinopathy Jacqueline Chua, Ralene Sim, Bingyao Tan, Damon Wong, Xinwen Yao, Xinyu Liu, Daniel S W Ting, Doreen Schmidl, Marcus Ang, Gerhard Garhöfer, Leopold Schmetterer Journal of clinical medicine 2020
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
Re: Shen et al.: Natural history of autosomal recessive Stargardt disease in untreated eyes: a systematic review and meta-analysis of study and individual level data (Ophthalmology. 2019;126:1288-1296) Xiangrong Kong, Rupert W Strauss, Beatriz Munoz, Sheila West, Janet Cheetham, Hendrik P N Scholl Ophthalmology 2020
Correction to: The impact of macular edema on microvascular and metabolic alterations in retinitis pigmentosa Margarita G Todorova, Hendrik P N Scholl, Maria Della Volpe Waizel 2020
Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, Jana Aguirre-Lamban, Inmaculada Martin-Merida, Ionut-Florin Iancu, Saoud Swafiri, Isabel Lorda-Sanchez, Elvira Rodriguez-Pinilla, Maria José Trujillo-Tiebas, Belen Jimenez-Rolando, Ester Carreño, Ignacio Mahillo-Fernandez, Carlo Rivolta, Marta Corton, Almudena Avila-Fernandez, Blanca Garcia-Sandoval, Carmen Ayuso American journal of ophthalmology 2020
Progression of Retinopathy Secondary to Maternally Inherited Diabetes and Deafness – Evaluation of Predicting Parameters Philipp L Müller, Tim Treis, Maximilian Pfau, Simona Degli Esposti, Abdulrahman Alsaedi, Peter Maloca, Konstantinos Balaskas, Andrew Webster, Catherine Egan, Adnan Tufail American journal of ophthalmology 2020