| Title | Authors | Publication | Year |
|---|
| Genetic Analysis of Consanguineous Pakistani Families with Congenital Stationary Night Blindness | Hafiz Muhammad Azhar Baig, Muhammad Ansar, Afia Iqbal, Muhammad Asif Naeem, Mathieu Quinodoz, Giacomo Calzetti, Muhammad Iqbal, Carlo Rivolta | Ophthalmic research | 2021 |
| Change in the ophthalmoscopical optic disc size and shape in a 10-year follow-up: the Beijing Eye Study 2001-2011 | Jost B Jonas, Qi Zhang, Liang Xu, Wen Bin Wei, Rahul A Jonas, Ya Xing Wang | The British journal of ophthalmology | 2021 |
| Functional integration of eye tissues and refractive eye development: Mechanisms and pathways | Jody A Summers, Frank Schaeffel, Susana Marcos, Hao Wu, Andrei V Tkatchenko | Experimental eye research | 2021 |
| Measuring optic nerve head perfusion to monitor glaucoma: a study on structure-function relationships using laser speckle flowgraphy | Giacomo Calzetti, Anna Sophie Mursch-Edlmayr, Ahmed M Bata, Nicola Ungaro, Paolo Mora, Jacqueline Chua, Doreen Schmidl, Matthias Bolz, Gerhard Garhöfer, Stefano Gandolfi, Leopold Schmetterer, Damon Wong | Acta ophthalmologica | 2021 |
| Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network | Birgit Lorenz, Joana Tavares, L Ingeborgh van den Born, João P Marques, Hendrik P N Scholl, EVICR.net Group | Ophthalmic research | 2021 |
| Lineage recording in human cerebral organoids | Zhisong He, Ashley Maynard, Akanksha Jain, Tobias Gerber, Rebecca Petri, Hsiu-Chuan Lin, Malgorzata Santel, Kevin Ly, Jean-Samuel Dupré, Leila Sidow, Fatima Sanchis Calleja, Sophie M J Jansen, Stephan Riesenberg, J Gray Camp, Barbara Treutlein | Nature methods | 2021 |
| Ultrawide field, distortion-corrected ocular shape estimation with MHz optical coherence tomography (OCT) | Bingyao Tan, Ryan P McNabb, Feihui Zheng, Yin Ci Sim, Xinwen Yao, Jacqueline Chua, Marcus Ang, Quan V Hoang, Anthony N Kuo, Leopold Schmetterer | Biomedical optics express | 2021 |
| Intraocular epidermal growth factor concentration, axial length, and high axial myopia | Jost B Jonas, Li Dong, Shi Da Chen, Michael Neumaier, Peter Findeisen, Songhomitra Panda-Jonas, Rahul A Jonas | Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie | 2021 |
| Peripheral Monocyte Count and Age-Related Macular Degeneration. The Tongren Health Care Study | Can Can Xue, Jing Cui, Li Qin Gao, Chun Zhang, Hong Liang Dou, Dong Ning Chen, Ya Xing Wang, Jost B Jonas | American journal of ophthalmology | 2021 |
| The power of genetic diversity in genome-wide association studies of lipids | Sarah E Graham, Shoa L Clarke, Kuan-Han H Wu, Stavroula Kanoni, Greg J M Zajac, Shweta Ramdas, Ida Surakka, Ioanna Ntalla, Sailaja Vedantam, Thomas W Winkler, Adam E Locke, Eirini Marouli, Mi Yeong Hwang, Sohee Han, Akira Narita, Ananyo Choudhury, Amy R Bentley, Kenneth Ekoru, Anurag Verma, Bhavi Trivedi, Hilary C Martin, Karen A Hunt, Qin Hui, Derek Klarin, Xiang Zhu, Gudmar Thorleifsson, Anna Helgadottir, Daniel F Gudbjartsson, Hilma Holm, Isleifur Olafsson, Masato Akiyama, Saori Sakaue, Chikashi Terao, Masahiro Kanai, Wei Zhou, Ben M Brumpton, Humaira Rasheed, Sanni E Ruotsalainen, Aki S Havulinna, Yogasudha Veturi, QiPing Feng, Elisabeth A Rosenthal, Todd Lingren, Jennifer Allen Pacheco, Sarah A Pendergrass, Jeffrey Haessler, Franco Giulianini, Yuki Bradford, Jason E Miller, Archie... | Nature | 2021 |
| Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants | Sébastien Lebon, Mathieu Quinodoz, Virginie G Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga | Genes | 2021 |
| Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy | Pierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, Xavier Zanlonghi, Hélène Dollfus, Alberta A H J Thiadens, Christina Zeitz, Grazia M S Mancini, Yaumara Perdomo, Saddek Mohand-Saïd, Eléonore Lizé, Vincent Lhussiez, Emeline F Nandrot, Niyazi Acar, Catherine Creuzot-Garcher, José-Alain Sahel, Muhammad Ansar, Christel Thauvin-Robinet, Laurence Duplomb, Romain Da Costa | Scientific reports | 2021 |
| Age-related macular degeneration | Monika Fleckenstein, Tiarnán D L Keenan, Robyn H Guymer, Usha Chakravarthy, Steffen Schmitz-Valckenberg, Caroline C Klaver, Wai T Wong, Emily Y Chew | Nature reviews. Disease primers | 2021 |
| Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene | Isis Atallah, Mathieu Quinodoz, Belinda Campos-Xavier, Virginie G Peter, Athina Fouriki, Christophe Bonvin, Armand Bottani, Camille Kumps, Federica Angelini, Felicitas Bellutti Enders, Stéphanie Christen-Zaech, Mattia Rizzi, Raffaele Renella, Maja Beck-Popovic, Claudia Poloni, Valérie Frossard, Jean-Louis Blouin, Carlo Rivolta, Orbicia Riccio, Fabio Candotti, Michael Hofer, Sheila Unger, Andrea Superti-Furga | Clinical genetics | 2021 |
| Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder | Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E Antonarakis, Muhammad Ansar | NPJ genomic medicine | 2021 |
| c.-61G>A in OVOL2 is a Pathogenic 5′ Untranslated Region Variant Causing Posterior Polymorphous Corneal Dystrophy 1 | Lucas Janeschitz-Kriegl, Dhryata Kamdar, Mathieu Quinodoz, Karolina Kaminska, Marc Folcher, Bence György, Peter Meyer, Andreas Wild, Pascal Escher, Hendrik P N Scholl, Carlo Rivolta, David Goldblum | Cornea | 2021 |
| Segregation of neuronal-vascular components in a retinal nerve fiber layer for thickness measurement using OCT and OCT angiography | Ai Ping Yow, Bingyao Tan, Jacqueline Chua, Rahat Husain, Leopold Schmetterer, Damon Wong | Biomedical optics express | 2021 |
| Branch retinal vein occlusion precipitated by compression between a major retinal artery and underlying optic disc drusen | Simon P Rothenbuehler, Peter M Maloca, Mohamed Belmouhand, Steffen Hamann, Michael Larsen | Acta ophthalmologica | 2021 |
| Location of Parapapillary Gamma Zone and Vertical Fovea Location. The Beijing Eye Study 2011 | Rahul A Jonas, Camilla F Brandt, Qi Zhang, Ya X Wang, Jost B Jonas | Investigative ophthalmology & visual science | 2021 |
| Decreasing myopic lacquer crack and widening parapapillary gamma zone: case report | Rahul A Jonas, Chuan Chuan Wei, Jost B Jonas, Ya Xing Wang | BMC ophthalmology | 2021 |
| Neuronal ribosomes exhibit dynamic and context-dependent exchange of ribosomal proteins | Claudia M Fusco, Kristina Desch, Aline R Dörrbaum, Mantian Wang, Anja Staab, Ivy C W Chan, Eleanor Vail, Veronica Villeri, Julian D Langer, Erin M Schuman | Nature communications | 2021 |
| Partial recovery of visual function in a blind patient after optogenetic therapy | José-Alain Sahel, Elise Boulanger-Scemama, Chloé Pagot, Angelo Arleo, Francesco Galluppi, Joseph N Martel, Simona Degli Esposti, Alexandre Delaux, Jean-Baptiste de Saint Aubert, Caroline de Montleau, Emmanuel Gutman, Isabelle Audo, Jens Duebel, Serge Picaud, Deniz Dalkara, Laure Blouin, Magali Taiel, Botond Roska | Nature medicine | 2021 |
| Unilateral Retinal Ischemia | Carina Kelbsch, Peter M Maloca, Helmut Wilhelm, Karl Ulrich Bartz-Schmidt, Christoph Kernstock | Klinische Monatsblatter fur Augenheilkunde | 2021 |
| Short-term changes in retinal and choroidal relative flow volume after anti-VEGF treatment for neovascular age-related macular degeneration | Giacomo Calzetti, Paolo Mora, Enrico Borrelli, Riccardo Sacconi, Guido Ricciotti, Arturo Carta, Stefano Gandolfi, Giuseppe Querques | Scientific reports | 2021 |
| Endosomal disentanglement of a transducible artificial transcription factor targeting endothelin receptor A | Claudia C Bippes, Corina Kohler, Esther Garcia-Tirado, Reto Burri, Tina Frauenknecht, Marie-Apolline Gerard, Marie Salat, Roy Allenspach, Cavit Agca, Zongsong Wu, Andrea Trost, Barbara Bogner, Peter Meyer, Hendrik P N Scholl, Herbert Reitsamer, Josef Flammer, Albert Neutzner | Molecular therapy : the journal of the American Society of Gene Therapy | 2021 |
| NGN2 induces diverse neuron types from human pluripotency | Hsiu-Chuan Lin, Zhisong He, Sebastian Ebert, Maria Schörnig, Malgorzata Santel, Marina T Nikolova, Anne Weigert, Wulf Hevers, Nael Nadif Kasri, Elena Taverna, J Gray Camp, Barbara Treutlein | Stem cell reports | 2021 |
| 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 |