| Title | Authors | Publication | Year |
|---|
| Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development | Abigail R Moye, Michael A Robichaux, Melina A Agosto, Alexandre P Moulin, Alexandra Graff-Meyer, Carlo Rivolta, Theodore G Wensel | J Cell Sci. | 2025 |
| Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity | Mathieu Quinodoz, Virginie G Peter, Katarina Cisarova, Beryl Royer-Bertrand, Peter D Stenson, David N Cooper, Sheila Unger, Andrea Superti-Furga, Carlo Rivolta | American journal of human genetics | 2022 |
| 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 |
| Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative | Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Çelik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane Del Valle, Nicole Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle,... | PLoS genetics | 2022 |
| Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis | Daan M Panneman, Rebekkah J Hitti-Malin, Lara K Holtes, Suzanne E de Bruijn, Janine Reurink, Erica G M Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M Nishiguchi, James A Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A H J Thiadens, Carmel Toomes, Anna M Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J M Verhoeven, Maartje van de... | Frontiers in cell and developmental biology | 2023 |
| 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 |
| De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa | Mathieu Quinodoz, et al. | Nature Genetics | 2026 |