Publications

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TitleAuthorsPublication Year
The Progression of Stargardt Disease Using Volumetric Hill of Vision Analyses Over 24 Months: ProgStar Report No.15 Etienne M Schönbach, Lucas Janeschitz-Kriegl, Rupert W Strauss, Marco E G V Cattaneo, Kaoru Fujinami, David G Birch, Artur V Cideciyan, Janet S Sunness, Richard G Weleber, Michael S Ip, SriniVas R Sadda, Hendrik P N Scholl, ProgStar Study Group American journal of ophthalmology 2021
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Beryl Royer-Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E Speck-Martins, Daniel Rocha Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos-Xavier, Carole Chiesa, Florence Niel-Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I Robson, Alessa Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A Prada-Medina, Rosanna Pescini-Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti-Furga Nature 2021
Histology of neovascular myopic macular degeneration Shefali B Jonas, Songhomitra Panda-Jonas, Jost B Jonas, Rahul A Jonas Scientific reports 2021
Developing a normative database for retinal perfusion using optical coherence tomography angiography Bingyao Tan, Yin Ci Sim, Jacqueline Chua, Dheo Yusufi, Damon Wong, Ai Ping Yow, Calvin Chin, Anna C S Tan, Chelvin C A Sng, Rupesh Agrawal, Lekha Gopal, Ralene Sim, Gavin Tan, Ecosse Lamoureux, Leopold Schmetterer Biomedical optics express 2021
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD Riccardo Sangermano, Iris Deitch, Virginie G Peter, Rola Ba-Abbad, Emily M Place, Erin Zampaglione, Naomi E Wagner, Anne B Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala'a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A Pierce, Carlo Rivolta, Andrew R Webster, Gavin Arno, Dror Sharon, Rachel M Huckfeldt, Kinga M Bujakowska NPJ genomic medicine 2021
Peaks of circumpapillary retinal nerve fibre layer and associations in healthy eyes: the Beijing Eye Study 2011 Qing Zhang, Liang Xu, Liang Zhao, Rahul A Jonas, Ya Xing Wang, Jost B Jonas The British journal of ophthalmology 2021
2020 as the Year of Quarantine Myopia Caroline C W Klaver, Jan Roelof Polling, Clair A Enthoven JAMA ophthalmology 2021
In vivo Imaging of Retina and Choroid in Guinea Pigs Li Dong, Yi Fan Li, Xue Jiang, Yin Jun Lan, Lei Shao, Jost B Jonas, Wen Bin Wei Frontiers in medicine 2021
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Romina Romaniello, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczałuba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente, University of Washington Center for Mendelian Genomics (UW-CMG) group Journal of medical genetics 2021
Venous overload choroidopathy: A hypothetical framework for central serous chorioretinopathy and allied disorders Richard F Spaide, Chui Ming Gemmy Cheung, Hidetaka Matsumoto, Shoji Kishi, Camiel J F Boon, Elon H C van Dijk, Martine Mauget-Faysse, Francine Behar-Cohen, M Elizabeth Hartnett, Sobha Sivaprasad, Tomohiro Iida, David M Brown, Jay Chhablani, Peter M Maloca Progress in retinal and eye research 2021
Resolving organoid brain region identities by mapping single-cell genomic data to reference atlases Jonas Simon Fleck, Fátima Sanchís-Calleja, Zhisong He, Malgorzata Santel, Michael James Boyle, J Gray Camp, Barbara Treutlein Cell stem cell 2021
Combining OCT and OCTA for Focal Structure-Function Modeling in Early Primary Open-Angle Glaucoma Damon Wong, Jacqueline Chua, Bingyao Tan, Xinwen Yao, Rachel Chong, Chelvin C A Sng, Rahat Husain, Tin Aung, David Garway-Heath, Leopold Schmetterer Investigative ophthalmology & visual science 2021
Axial length and its associations in the Ural Very Old Study Mukharram M Bikbov, Gyulli M Kazakbaeva, Ellina M Rakhimova, Iuliia A Rusakova, Albina A Fakhretdinova, Azaliia M Tuliakova, Songhomitra Panda-Jonas, Timur R Gilmanshin, Rinat M Zainullin, Natalia I Bolshakova, Kamilia R Safiullina, Ainur V Gizzatov, Ildar P Ponomarev, Dilya F Yakupova, Nail E Baymukhametov, Nikolay A Nikitin, Jost B Jonas Scientific reports 2021
Challenges in the complex management of post-keratoplasty glaucoma Lisa-Marie Anders, Zisis Gatzioufas, Matthias C Grieshaber Therapeutic advances in ophthalmology 2021
Myelinated Retinal Nerve Fiber Progression in a 10-Year Follow-Up. The Beijing Eye Study 2001/2011 Zhe Pan, Chuan Chuan Wei, Xiaoyan Peng, Qi Zhang, Liang Xu, Hua Yang, Wen Bin Wei, Ya Xing Wang, Jost B Jonas American journal of ophthalmology 2021
Differences in clinical presentation of primary open-angle glaucoma between African and European populations Pieter W M Bonnemaijer, Valeria Lo Faro, Anna J Sanyiwa, Hassan G Hassan, Colin Cook, GIGA study group, Suzanne Van de Laar, Hans G Lemij, Caroline C W Klaver, Nomdo M Jansonius, Alberta A H J Thiadens Acta ophthalmologica 2021
Dynamic volume-rendered optical coherence tomography pupillometry Peter M Maloca, Emanuel R de Carvalho, Pascal W Hasler, Konstantinos Balaskas, Nadja Inglin, Axel Petzold, Catherine Egan, Adnan Tufail, Hendrik P N Scholl, Philippe Valmaggia Acta ophthalmologica 2021
Full circumferential morphological analysis of Schlemm’s canal in human eyes using megahertz swept source OCT Xinwen Yao, Bingyao Tan, Yijie Ho, Xinyu Liu, Damon Wong, Jacqueline Chua, Tina T Wong, Shamira Perera, Marcus Ang, René M Werkmeister, Leopold Schmetterer Biomedical optics express 2021
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
Association of macular and choroidal perfusion with long-term visual outcomes after macula-off rhegmatogenous retinal detachment Jacqueline Chua, Mengyuan Ke, Bingyao Tan, Alfred Tau Liang Gan, Laurence S Lim, Gavin Sw Tan, Shu Yen Lee, Edmund Wong, Leopold Schmetterer, Ning Cheung The British journal of ophthalmology 2021
NEGATIVE VESSEL REMODELING IN STARGARDT DISEASE QUANTIFIED WITH VOLUME-RENDERED OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY Michael Reich, Michelle Dreesbach, Daniel Boehringer, Julia Schottenhamml, Esteban Gehring, Hendrik P N Scholl, Nadja Inglin, Hansjuergen Agostini, Thomas Reinhard, Wolf A Lagrèze, Richard F Spaide, Clemens Lange, Peter M Maloca Retina (Philadelphia, Pa.) 2021
Vessel Volume Rendering Quantifies Disease Conversion and Progression in Leber Hereditary Optic Neuropathy Neringa Jurkute, Adnan Tufail, Pearse A Keane, Andrew R Webster, Patrick Yu-Wai-Man, Peter M Maloca Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2021
Uncovering of intraspecies macular heterogeneity in cynomolgus monkeys using hybrid machine learning optical coherence tomography image segmentation Peter M Maloca, Christine Seeger, Helen Booler, Philippe Valmaggia, Ken Kawamoto, Qayim Kaba, Nadja Inglin, Konstantinos Balaskas, Catherine Egan, Adnan Tufail, Hendrik P N Scholl, Pascal W Hasler, Nora Denk Scientific reports 2021
Charting human development using a multi-endodermal organ atlas and organoid models Qianhui Yu, Umut Kilik, Emily M Holloway, Yu-Hwai Tsai, Christoph Harmel, Angeline Wu, Joshua H Wu, Michael Czerwinski, Charlie J Childs, Zhisong He, Meghan M Capeling, Sha Huang, Ian A Glass, Peter D R Higgins, Barbara Treutlein, Jason R Spence, J Gray Camp Cell 2021
A Phase II, Multicenter, Randomized, Placebo-Controlled, Double-Masked Trial of a Topical Estradiol Ophthalmic Formulation in Postmenopausal Women with Moderate-to-Severe Dry Eye Disease Doreen Schmidl, László Szalai, Orsolya G Kiss, Leopold Schmetterer, Gerhard Garhöfer Advances in therapy 2021
“Emmetropic, but not myopic human eyes distinguish positive defocus from calculated defocus in monochromatic red light” Barbara Swiatczak, Frank Schaeffel Vision research 2021
Deep-Learning-Based Pre-Diagnosis Assessment Module for Retinal Photographs: A Multicenter Study Vincent Yuen, Anran Ran, Jian Shi, Kaiser Sham, Dawei Yang, Victor T T Chan, Raymond Chan, Jason C Yam, Clement C Tham, Gareth J McKay, Michael A Williams, Leopold Schmetterer, Ching-Yu Cheng, Vincent Mok, Christopher L Chen, Tien Y Wong, Carol Y Cheung Translational vision science & technology 2021
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