| Title | Authors | Publication | Year |
|---|
| High-efficiency base editing in the retina in primates and human tissues | Alissa Muller, Jack Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park-Windhol, Pascal W Hasler, Lucas Janeschitz-Kriegl, Mert Duman, Beryll Klingler, Jane Matsell, Simon Manuel Hostettler, Patricia Galliker, Yanyan Hou, Pierre Balmer, Tamás Virág, Luis Alberto Barrera, Lauren Young, Quan Xu, Dániel Péter Magda, Ferenc Kilin, Arogya Khadka, Pierre-Henri Moreau, Lyne Fellmann, Thierry Azoulay, Mathieu Quinodoz, Duygu Karademir, Juna Leppert, Alex Fratzl, Georg Kosche, Ruchi Sharma, Jair Montford, Marco Cattaneo, Mikaël Croyal, Therese Cronin, Simone Picelli, Alice Grison, Cameron S Cowan, Ákos Kusnyerik, Philipp Anders, Magdalena Renner, Zoltán Zsolt Nagy, Arnold Szabó, Kapil Bharti, Carlo Rivolta, Hendrik P N Scholl, David Bryson, Giuseppe Ciaramella, Botond Roska, Bence György | Nature Medicine | 2025 |
| Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy | Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens, Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, Filip Van den Broeck, Almudena Ávila Fernández, Lidia Fernández-Caballero, Irene Perea-Romero, Gema García-García, David Salom, Pascale Mazzola, Theresia Zuleger, Karin Poths, Tobias B Haack, Julie Jacob, Sascha Vermeer, Frédérique Terbeek, Nicolas Feltgen, Alexandre P Moulin, Louisa Koutroumanou, George Papadakis, Andrew C Browning, Savita Madhusudhan, Lotta Gränse, Eyal Banin, Ana Berta Sousa, Luisa Coutinho Santos, Laura Kuehlewein, Pietro De Angeli, Bart P Leroy, Omar A Mahroo, Fay Sedgwick, James Eden, Maximilian Pfau, Sten Andréasson, Hendrik P N Scholl, Carmen Ayuso, José M Millán, Dror Sharon,... | Am J Hum Genet. | 2025 |
| Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads | Mathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G Peter, Elifnaz Celik, Lucas Janeschitz-Kriegl, Nils Schärer, Daniela Hauenstein, Bence György, Giacomo Calzetti, Vincent Hahaut, Sónia Custódio, Ana Cristina Sousa, Yuko Wada, Yusuke Murakami, Almudena Avila Fernández, Cristina Rodilla Hernández, Pablo Minguez, Carmen Ayuso, Koji M Nishiguchi, Cristina Santos, Luisa Coutinho Santos, Viet H Tran, Veronika Vaclavik, Hendrik P N Scholl, Carlo Rivolta | Am J Hum Genet. | 2024 |
| 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 |
| Baseline Levels of Retinol-Binding Protein 4 and Vitamin A in Healthy Subjects, Stargardt Disease, and Geographic Atrophy Patients | Lucas Janeschitz-Kriegl, Marco Cattaneo, Hendrik P N Scholl | Ophthalmic research | 2022 |
| Endpoints for clinical trials in ophthalmology | Leopold Schmetterer, Hendrik Scholl, Gerhard Garhöfer, Lucas Janeschitz-Kriegl, Federico Corvi, SriniVas R Sadda, Felipe A Medeiros | Progress in retinal and eye research | 2023 |
| 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 |
| Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies | Malena Daich Varela, James Bellingham, Fabiana Motta, Neringa Jurkute, Jamie M Ellingford, Mathieu Quinodoz, Kathryn Oprych, Michael Niblock, Lucas Janeschitz-Kriegl, Karolina Kaminska, Francesca Cancellieri, Hendrik P N Scholl, Eva Lenassi, Elena Schiff, Hannah Knight, Graeme Black, Carlo Rivolta, Michael E Cheetham, Michel Michaelides, Omar A Mahroo, Anthony T Moore, Andrew R Webster, Gavin Arno | Human molecular genetics | 2022 |
| Relaxing radial retinal incisions for the treatment of persistent macular holes | Camenzind-Zuche Hanna, Janeschitz-Kriegl Lucas, Hasler Pascal, Prünte Christian | European journal of ophthalmology | 2023 |
| Human selection bias drives the linear nature of the more ground truth effect in explainable deep learning optical coherence tomography image segmentation | Peter M Maloca, Maximilian Pfau, Lucas Janeschitz-Kriegl, Michael Reich, Lukas Goerdt, Frank G Holz, Philipp L Müller, Philippe Valmaggia, Katrin Fasler, Pearse A Keane, Javier Zarranz-Ventura, Sandrine Zweifel, Jonas Wiesendanger, Pascal Kaiser, Tim J Enz, Simon P Rothenbuehler, Pascal W Hasler, Marlene Juedes, Christian Freichel, Catherine Egan, Adnan Tufail, Hendrik P N Scholl, Nora Denk | Journal of biophotonics | 2023 |