Publications

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TitleAuthorsPublication Year
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene Virginie G Peter, Mathieu Quinodoz, Jorge Pinto-Basto, Sergio B Sousa, Silvio Alessandro Di Gioia, Gabriela Soares, Gabriela Ferraz Leal, Eduardo D Silva, Rosanna Pescini Gobert, Noriko Miyake, Naomichi Matsumoto, Elizabeth C Engle, Sheila Unger, Frederic Shapiro, Andrea Superti-Furga, Carlo Rivolta, Belinda Campos-Xavier Genetics in medicine : official journal of the American College of Medical Genetics 2019
Combined pars plana vitrectomy with phacoemulsification for rhegmatogenous retinal detachment repair Josef Guber, Maico Bentivoglio, Veit Sturm, Hendrik Pn Scholl, Christophe Valmaggia Clinical ophthalmology (Auckland, N.Z.) 2019
Macular OCT-angiography parameters to predict the clinical stage of nonproliferative diabetic retinopathy: an exploratory analysis Tiago M Rodrigues, João P Marques, Mário Soares, Sílvia Simão, Pedro Melo, Amélia Martins, João Figueira, Joaquim N Murta, Rufino Silva Eye (London, England) 2019
Influence of Postoperative Posture on Macular Slippage after Macula-Off Retinal Detachment: A Randomized Controlled Trial Megir Schawkat, Christophe Valmaggia, Corina Lang, Hendrik P N Scholl, Steven Harsum, Ivo Guber, Josef Guber Ophthalmology and therapy 2019
Reproducibility of Measurements of Retinal Structural Parameters Using Optical Coherence Tomography in Stargardt Disease Xiangrong Kong, Alexander Ho, Beatriz Munoz, Sheila West, Rupert W Strauss, Anamika Jha, Ann Ervin, Jeff Buzas, Mandeep Singh, Zhihong Hu, Janet Cheetham, Michael Ip, Hendrik P N Scholl Translational vision science & technology 2019
Ganglion cell layer thickening in well-controlled patients with type 1 diabetes: an early sign for diabetic retinopathy? Bianca S Gerendas, Katja Hatz, Alexandra Kaider, Henryk Zulewski, Roger Lehmann, Alessio Montuoro, Ursula Schmidt-Erfurth, Christian Pruente Acta ophthalmologica 2019
Evaluation of Wu et al.: Strengthening Single-Cell Bioinformatic Comparisons for Improving Organoid Differentiation Barbara Treutlein, J Gray Camp Cell stem cell 2019
Unmet research and developmental needs in ophthalmology : A consensus-based road map of the European Vision Institute for 2019-2025 C Cursiefen, F Cordeiro, J Cunha-Vaz, T Wheeler-Schilling, H P N Scholl, das EVI Steering Board 2019
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P M Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M Nishiguchi, Toru Nakazawa, Carlo Rivolta Nature communications 2019
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa Atta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, Muhammad Dawood, Carlo Rivolta Clinical dysmorphology 2019
Feasibility of support vector machine learning in age-related macular degeneration using small sample yielding sparse optical coherence tomography data Gwenolé Quellec, Jens Kowal, Pascal W Hasler, Hendrik P N Scholl, Sandrine Zweifel, Balaskas Konstantinos, João Emanuel Ramos de Carvalho, Tjebo Heeren, Catherine Egan, Adnan Tufail, Peter M Maloca Acta ophthalmologica 2019
Safety and Feasibility of a Novel Sparse Optical Coherence Tomography Device for Patient-Delivered Retina Home Monitoring Peter Maloca, Pascal W Hasler, Daniel Barthelmes, Patrik Arnold, Mooser Matthias, Hendrik P N Scholl, Heinrich Gerding, Justus Garweg, Tjebo Heeren, Konstantinos Balaskas, J Emanuel Ramos de Carvalho, Catherine Egan, Adnan Tufail, Sandrine A Zweifel Translational vision science & technology 2018
High-Performance Virtual Reality Volume Rendering of Original Optical Coherence Tomography Point-Cloud Data Enhanced With Real-Time Ray Casting Peter M Maloca, J Emanuel Ramos de Carvalho, Tjebo Heeren, Pascal W Hasler, Faisal Mushtaq, Mark Mon-Williams, Hendrik P N Scholl, Konstantinos Balaskas, Catherine Egan, Adnan Tufail, Lilian Witthauer, Philippe C Cattin Translational vision science & technology 2018
Scotopic Microperimetric Assessment of Rod Function in Stargardt Disease (SMART) Study: Design and Baseline Characteristics (Report No. 1) Rupert W Strauss, Xiangrong Kong, Millena G Bittencourt, Alexander Ho, Anamika Jha, Etienne M Schönbach, Mohamed I Ahmed, Beatriz Muñoz, Ann-Margret Ervin, Michel Michaelides, David G Birch, José-Alain Sahel, Janet S Sunness, Eberhart Zrenner, Saghar Bagheri, Michael Ip, SriniVas Sadda, Sheila West, Hendrik P N Scholl, for the SMART Study Group Ophthalmic research 2018
How Diverse Retinal Functions Arise from Feedback at the First Visual Synapse Antonia Drinnenberg, Felix Franke, Rei K Morikawa, Josephine Jüttner, Daniel Hillier, Peter Hantz, Andreas Hierlemann, Rava Azeredo da Silveira, Botond Roska Neuron 2018
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8 Kaoru Fujinami, Rupert W Strauss, John Pei-Wen Chiang, Isabelle S Audo, Paul S Bernstein, David G Birch, Samantha M Bomotti, Artur V Cideciyan, Ann-Margret Ervin, Meghan J Marino, José-Alain Sahel, Saddek Mohand-Said, Janet S Sunness, Elias I Traboulsi, Sheila West, Robert Wojciechowski, Eberhart Zrenner, Michel Michaelides, Hendrik P N Scholl, ProgStar Study Group, ProgStar Study Group The British journal of ophthalmology 2018
Whole-Brain Functional Ultrasound Imaging Reveals Brain Modules for Visuomotor Integration Émilie Macé, Gabriel Montaldo, Stuart Trenholm, Cameron Cowan, Alexandra Brignall, Alan Urban, Botond Roska Neuron 2018
Visual Acuity Change Over 24 Months and Its Association With Foveal Phenotype and Genotype in Individuals With Stargardt Disease: ProgStar Study Report No. 10 Xiangrong Kong, Kaoru Fujinami, Rupert W Strauss, Beatriz Munoz, Sheila K West, Artur V Cideciyan, Michel Michaelides, Mohamed Ahmed, Ann-Margret Ervin, Etienne Schönbach, Janet K Cheetham, Hendrik P N Scholl, ProgStar Study Group JAMA ophthalmology 2018
Tutorial: guidelines for the experimental design of single-cell RNA sequencing studies Atefeh Lafzi, Catia Moutinho, Simone Picelli, Holger Heyn Nature protocols 2018
Longitudinal Changes of Fixation Location and Stability Within 12 Months in Stargardt Disease: ProgStar Report No. 12 Etienne M Schönbach, Rupert W Strauss, Xiangrong Kong, Beatriz Muñoz, Mohamed A Ibrahim, Janet S Sunness, David G Birch, Gesa-Astrid Hahn, Fadi Nasser, Eberhart Zrenner, SriniVas R Sadda, Sheila K West, Hendrik P N Scholl, ProgStar Study Group American journal of ophthalmology 2018
Surgical Outcome after Lamellar Macular Hole Associated with Epiretinal Membrane Josef Guber, Hendrik P N Scholl, Christophe Valmaggia Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 2018
Restoring vision Botond Roska, José-Alain Sahel Nature 2018
MICROPERIMETRY AS A SCREENING TEST FOR HYDROXYCHLOROQUINE RETINOPATHY: The Hard-Risk-1 Study Mustafa Iftikhar, Ramandeep Kaur, April Nefalar, Bushra Usmani, Saleema Kherani, Isra Rashid, Etienne Schönbach, Michelle Petri, Hendrik P N Scholl, Syed M Shah Retina (Philadelphia, Pa.) 2018
Interdevice variability of central corneal thickness measurement Peter M Maloca, Harald P Studer, Renato Ambrósio, David Goldblum, Simon Rothenbuehler, Daniel Barthelmes, Sandrine Zweifel, Hendrik P N Scholl, Konstantinos Balaskas, Adnan Tufail, Pascal W Hasler PloS one 2018
The Progression of the Stargardt Disease Type 4 (ProgStar-4) Study: Design and Baseline Characteristics (ProgStar-4 Report No. 1) Rupert W Strauss, Beatriz Muñoz, Mohamed I Ahmed, Millena Bittencourt, Etienne M Schönbach, Michel Michaelides, David Birch, Eberhart Zrenner, Ann-Margret Ervin, Peter Charbel Issa, Jun Kong, Yulia Wolfson, Mahmood Shah, Saghar Bagheri, Sheila West, Hendrik P N Scholl, for the ProgStar-4 Study Group Ophthalmic research 2018