| Title | Authors | Publication | Year |
|---|
| 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 |
| NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases | I Perea-Romero, F Blanco-Kelly, I Sanchez-Navarro, I Lorda-Sanchez, S Tahsin-Swafiri, A Avila-Fernandez, I Martin-Merida, M J Trujillo-Tiebas, R Lopez-Rodriguez, M Rodriguez de Alba, I F Iancu, R Romero, M Quinodoz, H Hakonarson, Blanca Garcia-Sandova, P Minguez, M Corton, C Rivolta, C Ayuso | Human genetics | 2021 |
| The Effect of Orally Administered Low-Dose Dronabinol on Retinal Blood Flow and Oxygen Metabolism in Healthy Subjects | Nikolaus Hommer, Doreen Schmidl, Martin Kallab, Martin Bauer, René M Werkmeister, Leopold Schmetterer, Marihan Abensperg-Traun, Gerhard Garhöfer | Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics | 2021 |
| Emmetropic, But Not Myopic Human Eyes Distinguish Positive Defocus From Calculated Blur | Barbara Swiatczak, Frank Schaeffel | Investigative ophthalmology & visual science | 2021 |
| Having One of the Fastest Growing Unmet Needs in Ophthalmology Reflected in Editorial Activities: Myopia | Kyoko Ohno-Matsui, Hendrik P N Scholl | Ophthalmic research | 2021 |
| Framework for quantitative three-dimensional choroidal vasculature analysis using optical coherence tomography | Ashish Saxena, Xinwen Yao, Damon Wong, Jacqueline Chua, Marcus Ang, Quan V Hoang, Rupesh Agrawal, Michael Girard, Gemmy Cheung, Leopold Schmetterer, Bingyao Tan | Biomedical optics express | 2021 |
| Choroidal shift in myopic eyes in the 10-year follow-up Beijing eye study | Jost B Jonas, Yan Ni Yan, Qi Zhang, Rahul A Jonas, Ya Xing Wang | Scientific reports | 2021 |
| Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression | Francesco Paolo Ruberto, Sara Balzano, Prasanthi Namburi, Adva Kimchi, Rosanna Pescini-Gobert, Alexey Obolensky, Eyal Banin, Tamar Ben-Yosef, Dror Sharon, Carlo Rivolta | Molecular vision | 2021 |
| A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa | Koji M Nishiguchi, Fuyuki Miya, Yuka Mori, Kosuke Fujita, Masato Akiyama, Takashi Kamatani, Yoshito Koyanagi, Kota Sato, Toru Takigawa, Shinji Ueno, Misato Tsugita, Hiroshi Kunikata, Katarina Cisarova, Jo Nishino, Akira Murakami, Toshiaki Abe, Yukihide Momozawa, Hiroko Terasaki, Yuko Wada, Koh-Hei Sonoda, Carlo Rivolta, Tatsuhiko Tsunoda, Motokazu Tsujikawa, Yasuhiro Ikeda, Toru Nakazawa | Communications biology | 2021 |
| Retinal Oxygen Metabolism and Haemodynamics in Patients With Multiple Sclerosis and History of Optic Neuritis | Martin Kallab, Nikolaus Hommer, Andreas Schlatter, Gabriel Bsteh, Patrick Altmann, Alina Popa-Cherecheanu, Martin Pfister, René M Werkmeister, Doreen Schmidl, Leopold Schmetterer, Gerhard Garhöfer | Frontiers in neuroscience | 2021 |
| The prevalence of dry eye in a very old population | 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 | Acta ophthalmologica | 2021 |
| OCT-GAN: single step shadow and noise removal from optical coherence tomography images of the human optic nerve head | Haris Cheong, Sripad Krishna Devalla, Thanadet Chuangsuwanich, Tin A Tun, Xiaofei Wang, Tin Aung, Leopold Schmetterer, Martin L Buist, Craig Boote, Alexandre H Thiéry, Michaël J A Girard | Biomedical optics express | 2021 |
| Quantitative OCT angiography of the retinal microvasculature and choriocapillaris in highly myopic eyes with myopic macular degeneration | Feihui Zheng, Jacqueline Chua, Mengyuan Ke, Bingyao Tan, Marco Yu, Qinglan Hu, Chui Ming Gemmy Cheung, Marcus Ang, Shu Yen Lee, Tien Yin Wong, SNEC Retina Group, Leopold Schmetterer, Chee Wai Wong, Quan V Hoang | The British journal of ophthalmology | 2021 |
| Ophthalmology and COVID-19: Long-term Surveillance Needed | Nishant Radke, Paisan Ruamviboonsuk, Clement C Y Tham, Jost B Jonas, Dennis S C Lam | Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) | 2021 |
| X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients | Leo C Hahn, Mary J van Schooneveld, Nieneke L Wesseling, Ralph J Florijn, Jacoline B Ten Brink, Birgit I Lissenberg-Witte, Ine Strubbe, Magda A Meester-Smoor, Alberta A Thiadens, Roselie M Diederen, Caroline van Cauwenbergh, Julie de Zaeytijd, Sophie Walraedt, Elfride de Baere, Caroline C W Klaver, Jeannette Ossewaarde-van Norel, L Ingeborgh van den Born, Carel B Hoyng, Maria M van Genderen, Paul A Sieving, Bart P Leroy, Arthur A Bergen, Camiel J F Boon | Ophthalmology | 2021 |
| PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease | Manon H C A Peeters, Mubeen Khan, Anoek A M B Rooijakkers, Timo Mulders, Lonneke Haer-Wigman, Camiel J F Boon, Caroline C W Klaver, L Ingeborgh van den Born, Carel B Hoyng, Frans P M Cremers, Anneke I den Hollander, Claire-Marie Dhaenens, Rob W J Collin | Human mutation | 2021 |
| Feasibility and tolerability of ophthalmic virtual reality as a medical communication tool in children and young people | Peter M Maloca, Emily A Williams, Faisal Mushtaq, Andreas Rueppel, Philipp L Müller, Clemens Lange, Emanuel R de Carvalho, Nadja Inglin, Michael Reich, Catherine Egan, Pascal W Hasler, Adnan Tufail, Hendrik P N Scholl, Philippe C Cattin | Acta ophthalmologica | 2021 |
| Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight | NCD Risk Factor Collaboration (NCD-RisC) | eLife | 2021 |
| Retinal Nerve Fiber Layer Thickness and Rim Area Profiles in Asians: Pooled Analysis from the Asian Eye Epidemiology Consortium | Shivani Majithia, Yih-Chung Tham, Crystal Chun Yuen Chong, Marco Yu, Carol Y Cheung, Mukharram M Bikbov, Gyulli M Kazakbaeva, Ningli Wang, Jie Hao, Kai Cao, Ya Xing Wang, Mariko Sasaki, Yoshikazu Ito, Ian Y Wong, Jonathan Cheuk-Hung Chan, Rohit C Khanna, Srinivas Marmamula, Eri Nakano, Yuki Mori, Tin Aung, Tien Yin Wong, Jost B Jonas, Masahiro Miyake, Ching-Yu Cheng, of the Asian Eye Epidemiology Consortium | Ophthalmology | 2021 |
| Indications and outcomes for intravitreal injection of C3F8 gas for symptomatic vitreomacular traction | Josef Guber, Celine Rusch, Ivo Guber, Hendrik P N Scholl, Christophe Valmaggia | Scientific reports | 2021 |
| CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels | André Brás Gonçalves, Sarah Kirstine Hasselbalch, Beinta Biskopstø Joensen, Sebastian Patzke, Pernille Martens, Signe Krogh Ohlsen, Mathieu Quinodoz, Konstantinos Nikopoulos, Reem Suleiman, Magnus Per Damsø Jeppesen, Catja Weiss, Søren Tvorup Christensen, Carlo Rivolta, Jens S Andersen, Pietro Farinelli, Lotte Bang Pedersen | eLife | 2021 |
| DDX3 depletion represses translation of mRNAs with complex 5′ UTRs | Lorenzo Calviello, Srivats Venkataramanan, Karol J Rogowski, Emanuel Wyler, Kevin Wilkins, Malvika Tejura, Bao Thai, Jacek Krol, Witold Filipowicz, Markus Landthaler, Stephen N Floor | Nucleic acids research | 2021 |
| Safety profiles of terahertz scanning in ophthalmology | Yu-Chi Liu, Lin Ke, Steve Wu Qing Yang, Zhang Nan, Ericia Pei Wen Teo, Nyein Chan Lwin, Molly Tzu-Yu Lin, Isabelle Xin Yu Lee, Anita Sook-Yee Chan, Leopold Schmetterer, Jodhbir S Mehta | Scientific reports | 2021 |
| Hidden in plain sight | Andreas J Keller | Science (New York, N.Y.) | 2021 |
| Whole-brain functional ultrasound imaging in awake head-fixed mice | Clément Brunner, Micheline Grillet, Alan Urban, Botond Roska, Gabriel Montaldo, Emilie Macé | Nature protocols | 2021 |
| Effect of prolactin on normal and keratoconus human corneal stromal fibroblasts in vitro | Philipp Anders, Xuefei Song, Bence György, Nora Szentmary, Berthold Seitz, Zisis Gatzioufas | PloS one | 2021 |
| The Organoid Cell Atlas | Christoph Bock, Michael Boutros, J Gray Camp, Laura Clarke, Hans Clevers, Juergen A Knoblich, Prisca Liberali, Aviv Regev, Anne C Rios, Oliver Stegle, Hendrik G Stunnenberg, Sarah A Teichmann, Barbara Treutlein, Robert G J Vries, Human Cell Atlas ‘Biological Network’ Organoids | Nature biotechnology | 2021 |
| Trustworthy AI: Closing the gap between development and integration of AI systems in ophthalmic practice | Cristina González-Gonzalo, Eric F Thee, Caroline C W Klaver, Aaron Y Lee, Reinier O Schlingemann, Adnan Tufail, Frank Verbraak, Clara I Sánchez | Progress in retinal and eye research | 2021 |
| Widespread White Matter Alterations in Patients With Visual Snow Syndrome | Lars Michels, Philipp Stämpfli, Njoud Aldusary, Marco Piccirelli, Patrick Freund, Konrad P Weber, Fabienne C Fierz, Spyros Kollias, Ghislaine Traber | Frontiers in neurology | 2021 |
| Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development | Annechien E G Haarman, Clair A Enthoven, Milly S Tedja, Jan R Polling, J Willem L Tideman, Jan E E Keunen, Camiel J F Boon, Janine F Felix, H Raat, Annette J M Geerards, Gregorius P M Luyten, Gwyneth A van Rijn, Virginie J M Verhoeven, Caroline C W Klaver | Investigative ophthalmology & visual science | 2021 |
| 2020: The Year in Review for Ophthalmic Research | Hendrik P N Scholl | Ophthalmic research | 2021 |
| Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations 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 |
| Ankle-brachial index and ocular diseases in a Russian population | Mukharram M Bikbov, Timur R Gilmanshin, Rinat M Zainullin, Ellina M Rakhimova, Iuliia A Rusakova, Albina A Fakhretdinova, Azaliia M Tuliakova, Gyulli M Kazakbaeva, Songhomitra Panda-Jonas, Kamilia R Safiullina, Nataliia I Bolshakova, Ainur V Gizzatov, Ildar P Ponomarev, Nikolai A Nikitin, Nail E Baimukhametov, Jost B Jonas | Eye (London, England) | 2021 |
| A roadmap for the Human Developmental Cell Atlas | Muzlifah Haniffa, Deanne Taylor, Sten Linnarsson, Bruce J Aronow, Gary D Bader, Roger A Barker, Pablo G Camara, J Gray Camp, Alain Chédotal, Andrew Copp, Heather C Etchevers, Paolo Giacobini, Berthold Göttgens, Guoji Guo, Ania Hupalowska, Kylie R James, Emily Kirby, Arnold Kriegstein, Joakim Lundeberg, John C Marioni, Kerstin B Meyer, Kathy K Niakan, Mats Nilsson, Bayanne Olabi, Dana Pe'er, Aviv Regev, Jennifer Rood, Orit Rozenblatt-Rosen, Rahul Satija, Sarah A Teichmann, Barbara Treutlein, Roser Vento-Tormo, Simone Webb, Human Cell Atlas Developmental Biological Network | Nature | 2021 |
| Cyclotorsion Measurement on Scanning Laser Ophthalmoscopy Imaging Compared With Fundus Photography in Patients With Fourth Nerve Palsy and Healthy Controls: CySLO-IV Study | Madeleine S Kanku, Silvano Sele, Ulrike Held, Gregor P Jaggi, Klara Landau, Ghislaine L Traber | Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society | 2021 |
| Elongation of the disc-fovea distance and retinal vessel straightening in high myopia in a 10-year follow-up of the Beijing eye study | Rahul A Jonas, Yan Ni Yan, Qi Zhang, Ya Xing Wang, Jost B Jonas | Scientific reports | 2021 |
| Predictors for 2-Year Functional and Morphological Outcomes of a Treat-and-Extend Regimen with Ranibizumab in Patients with Diabetic Macular Edema | Helena Giannakaki-Zimmermann, Alexandra Behrndt, Laura Hoffmann, Maria-Magdalena Guichard, Cengiz Türksever, Christian Prünte, Katja Hatz | Ophthalmic research | 2021 |
| Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia | Denis Plotnikov, Jiangtian Cui, Rosie Clark, Juho Wedenoja, Olavi Pärssinen, J Willem L Tideman, Jost B Jonas, Yaxing Wang, Igor Rudan, Terri L Young, David A Mackey, Louise Terry, Cathy Williams, Jeremy A Guggenheim, UK Biobank Eye and Vision Consortium and the CREAM Consortium | Investigative ophthalmology & visual science | 2021 |
| Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish | Wim H Quint, Kirke C D Tadema, Erik de Vrieze, Rachel M Lukowicz, Sanne Broekman, Beerend H J Winkelman, Melanie Hoevenaars, H Martijn de Gruiter, Erwin van Wijk, Frank Schaeffel, Magda Meester-Smoor, Adam C Miller, Rob Willemsen, Caroline C W Klaver, Adriana I Iglesias | Communications biology | 2021 |
| North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression | Johannes Birtel, Martin Gliem, Philipp Herrmann, Christine Neuhaus, Frank G Holz, Robert E MacLaren, Hendrik P N Scholl, Peter Charbel Issa | The British journal of ophthalmology | 2021 |
| Bruch Membrane Opening Detection Accuracy in Healthy Eyes and Eyes With Glaucoma With and Without Axial High Myopia in an American and Korean Cohort | Jasmin Rezapour, James A Proudfoot, Christopher Bowd, Jade Dohleman, Mark Christopher, Akram Belghith, Suzanne M Vega, Keri Dirkes, Min Hee Suh, Jost B Jonas, Leslie Hyman, Massimo A Fazio, Ruti Sella, Natalie A Afshari, Robert N Weinreb, Linda M Zangwill | American journal of ophthalmology | 2021 |
| Metabolic Long-Term Monitoring of Transcorneal Electrical Stimulation in Retinitis Pigmentosa | Nesrin Meral, Olga Zabek, Hanna Camenzind Zuche, Ursula Müller, Dominique Prétot, Annekatrin Rickmann, Hendrik P N Scholl, Maria Della Volpe Waizel | Ophthalmic research | 2021 |
| The Organoid Cell Atlas | Christoph Bock, Michael Boutros, J Gray Camp, Laura Clarke, Hans Clevers, Juergen A Knoblich, Prisca Liberali, Aviv Regev, Anne C Rios, Oliver Stegle, Hendrik G Stunnenberg, Sarah A Teichmann, Barbara Treutlein, Robert G J Vries, Human Cell Atlas ‘Biological Network’ Organoids | Nature biotechnology | 2021 |
| Effect of intracorneal ring segment implantation on high order aberrations comparing patients with eccentric versus central keratoconus | Philipp Anders, Lisa-Marie Anders, Mohamed Elalfy, Samer Hamada, Berthold Seitz, Zisis Gatzioufas | European journal of ophthalmology | 2021 |
| Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images | Hannah Currant, Pirro Hysi, Tomas W Fitzgerald, Puya Gharahkhani, Pieter W M Bonnemaijer, Anne Senabouth, Alex W Hewitt, UK Biobank Eye and Vision Consortium, International Glaucoma Genetics Consortium, Denize Atan, Tin Aung, Jason Charng, Hélène Choquet, Jamie Craig, Peng T Khaw, Caroline C W Klaver, Michiaki Kubo, Jue-Sheng Ong, Louis R Pasquale, Charles A Reisman, Maciej Daniszewski, Joseph E Powell, Alice Pébay, Mark J Simcoe, Alberta A H J Thiadens, Cornelia M van Duijn, Seyhan Yazar, Eric Jorgenson, Stuart MacGregor, Chris J Hammond, David A Mackey, Janey L Wiggs, Paul J Foster, Praveen J Patel, Ewan Birney, Anthony P Khawaja | PLoS genetics | 2021 |
| Deep learning differentiates between healthy and diabetic mouse ears from optical coherence tomography angiography images | Martin Pfister, Hannes Stegmann, Kornelia Schützenberger, Bhavapriya Jasmin Schäfer, Christine Hohenadl, Leopold Schmetterer, Martin Gröschl, René M Werkmeister | Annals of the New York Academy of Sciences | 2021 |
| Loss of Caveolin-1 Impairs Light Flicker-Induced Neurovascular Coupling at the Optic Nerve Head | Jing Hong Loo, Ying Shi Lee, Chang Yi Woon, Victor H K Yong, Bingyao Tan, Leopold Schmetterer, Rachel S Chong | Frontiers in neuroscience | 2021 |
| MYOPIC PRESENTATION OF CENTRAL SEROUS CHORIORETINOPATHY | Monica Ravenstijn, Elon H C van Dijk, Annechien E G Haarman, Talia R Kaden, Koenraad A Vermeer, Camiel J F Boon, Lawrence A Yannuzzi, Caroline C W Klaver, Suzanne Yzer | Retina (Philadelphia, Pa.) | 2021 |