| Title | Authors | Publication | Year |
|---|
| Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa | Ana Belén Iglesias-Romero, Karolina Kaminska, Mathieu Quinodoz, Marc Folcher, Siying Lin, Gavin Arno, Joaquim Calado, Andrew R Webster, Alexandre Moulin, Ana Berta Sousa, Luisa Coutinho-Santos, Cristina Santos, Carlo Rivolta | Am J Hum Genet. | 2024 |
| De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder | Mathieu Quinodoz, Sonja Rutz, Virginie Peter, Livia Garavelli, A Micheil Innes, Elena F Lehmann, Stephan Kellenberger, Zhong Peng, Angelica Barone, Belinda Campos-Xavier, Sheila Unger, Carlo Rivolta, Raimund Dutzler, Andrea Superti-Furga | EMBO J | 2025 |
| 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 |
| A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort | Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta | NPJ Genom Med. | 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 |
| Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration | Ji Hoon Han, Kim Rodenburg, Tamar Hayman, Giacomo Calzetti, Karolina Kaminska, Mathieu Quinodoz, Molly Marra, Sandrine Wallerich, Gilad Allon, Zoltán Z Nagy, Krisztina Knézy, Yumei Li, Rui Chen, Mirella Telles Salgueiro Barboni, Paul Yang, Mark E Pennesi, L Ingeborgh van den Born, Balázs Varsányi, Viktória Szabó, Dror Sharon, Eyal Banin, Tamar Ben-Yosef, Susanne Roosing, Robert K Koenekoop, Carlo Rivolta | Genet Med. | 2024 |
| 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 |
| A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing | Mukhtar Ullah, Atta Ur Rehman, Marc Folcher, Adnan Ullah, Faisal Usman, Abdur Rashid, Bilal Khan, Mathieu Quinodoz, Muhammad Ansar, Carlo Rivolta | Ophthalmic research | 2023 |
| TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa | Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik Pn Scholl, Marta Corton, Carmen Ayuso, Jose M Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis | JCI insight | 2023 |
| 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 |
| 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 |
| Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies | Atta Ur Rehman, Neda Sepahi, Nicola Bedoni, Zeinab Ravesh, Arash Salmaninejad, Francesca Cancellieri, Virginie G Peter, Mathieu Quinodoz, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Saman Ghalamkari, Mehran Piran, Mehrdad Piran, Andrea Superti-Furga, Carlo Rivolta | Scientific reports | 2021 |
| 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 |
| Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder | Ji Hoon Han, Gavin Ryan, Alyson Guy, Lu Liu, Mathieu Quinodoz, Ingrid Helbling, Joey E Lai-Cheong, Genomics England Research Consortium, Julian Barwell, Marc Folcher, John A McGrath, Celia Moss, Carlo Rivolta | Human molecular genetics | 2022 |
| 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 |
| Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening | Katya Nardou, Michael Nicolas, Fabien Kuttler, Katarina Cisarova, Elifnaz Celik, Mathieu Quinodoz, Nicolo Riggi, Olivier Michielin, Carlo Rivolta, Gerardo Turcatti, Alexandre Pierre Moulin | Cancers | 2022 |
| A novel phenotype associated with the R162W variant in the KCNJ13 gene | Marion Schroeder, Virginie G Peter, Lotta Gränse, Sten Andréasson, Carlo Rivolta, Ulrika Kjellström | Ophthalmic genetics | 2022 |
| Anisometropia and asymmetric ABCA4-related cone-rod dystrophy | Cristina Santos, Andreia Almeida, Rita Pinto, Karolina Kaminska, Virginie G Peter, Ana-Berta Sousa, Carlo Rivolta, Luísa Coutinho-Santos | Ophthalmic genetics | 2022 |
| A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome | Muhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig, Mathieu Quinodoz, Mukhtar Ullah, Ji Hoon Han, Muhammad Usama Rahim, Humera Kausar, Giacomo Calzetti, Carlo Rivolta | Ophthalmic 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 |
| Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy | Stijn Van de Sompele, Kent W Small, Munevver Burcu Cicekdal, Víctor López Soriano, Eva D'haene, Fadi S Shaya, Steven Agemy, Thijs Van der Snickt, Alfredo Dueñas Rey, Toon Rosseel, Mattias Van Heetvelde, Sarah Vergult, Irina Balikova, Arthur A Bergen, Camiel J F Boon, Julie De Zaeytijd, Chris F Inglehearn, Bohdan Kousal, Bart P Leroy, Carlo Rivolta, Veronika Vaclavik, Jenneke van den Ende, Mary J van Schooneveld, José Luis Gómez-Skarmeta, Juan J Tena, Juan R Martinez-Morales, Petra Liskova, Kris Vleminckx, Elfride De Baere | American journal of human genetics | 2022 |
| Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype | Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H Z Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, Genomics England Research Consortium, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno | NPJ genomic medicine | 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 |
| A Unique Presentation of Bilateral Chorioretinal Atrophy | Andrea Grosso, Lawrence A Yannuzzi, Stephen H Tsang, Piero Ceruti, David Sarraf, Ehud Zamir, Karolina Kaminska, Mathieu Quinodoz, Antonio Amoroso, Silvia Deaglio, Jasmine H Francis, Mauro Fioretto, Carlo Rivolta, Giacomo Calzetti | Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) | 2023 |
| 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 |
| The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis | Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana Berta Sousa, Luisa Coutinho Santos, Carlo Rivolta | PNAS nexus | 2023 |
| In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening | Alexey Koval, Yonika A Larasati, Mikhail Savitsky, Gonzalo P Solis, Jean-Marc Good, Mathieu Quinodoz, Carlo Rivolta, Andrea Superti-Furga, Vladimir L Katanaev | Med (New York, N.Y.) | 2023 |
| SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland | Faady Yahya, Pascal Escher, Carlo Rivolta, Hendrik Pn Scholl, Francoise Roulez | Klinische Monatsblatter fur Augenheilkunde | 2023 |
| 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 |
| 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 |
| Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice | Abigail R Moye, Nicola Bedoni, Jessica G Cunningham, Urikhan Sanzhaeva, Eric S Tucker, Peter Mathers, Virginie G Peter, Mathieu Quinodoz, Liliana P Paris, Luísa Coutinho-Santos, Pedro Camacho, Madeleine G Purcell, Abbie C Winkelmann, James A Foster, Elena N Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy | PLoS genetics | 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 |
| Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4 | Atta Ur Rehman, Virginie G Peter, Mathieu Quinodoz, Abdur Rashid, Syed Akhtar Khan, Andrea Superti-Furga, Carlo Rivolta | Genes | 2019 |
| Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency | Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Sohail A Paracha, Maleeha Azam, Ilse Kern, Justyna Iwaszkiewicz, Omer Farooq, Constantin J Pournaras, Ariane Malcles, Mateusz Kecik, Carlo Rivolta, Waqar Muzaffar, Aziz Qurban, Liaqat Ali, Yacine Aggoun, Federico A Santoni, Periklis Makrythanasis, Jawad Ahmed, Raheel Qamar, Muhammad T Sarwar, L Keith Henry, Stylianos E Antonarakis | Human molecular genetics | 2020 |
| Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases | Mor Hanany, Carlo Rivolta, Dror Sharon | Proceedings of the National Academy of Sciences of the United States of America | 2020 |
| Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility | Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Riet De Rycke, Jan De Bleecker, David Creytens, Jo Van Dorpe, Jan Gerris, Claus Bachert, Christiane Neuhofer, Sophie Walraedt, Almut Bischoff, Lotte B Pedersen, Thomas Klopstock, Carlo Rivolta, Bart P Leroy, Elfride De Baere, Frauke Coppieters | Human mutation | 2020 |
| An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs | Nicola Bedoni, Mathieu Quinodoz, Michele Pinelli, Gerarda Cappuccio, Annalaura Torella, Vincenzo Nigro, Francesco Testa, Francesca Simonelli, TUDP (Telethon Undiagnosed Disease Program), Marta Corton, Susanna Lualdi, Federica Lanza, Giovanni Morana, Carmen Ayuso, Maja Di Rocco, Mirella Filocamo, Sandro Banfi, Nicola Brunetti-Pierri, Andrea Superti-Furga, Carlo Rivolta | Human molecular genetics | 2020 |
| Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome | Evangelia S Panagiotou, Thomas Papathomas, Konstantinos Nikopoulos, Stavrenia Koukoula, Mathieu Quinodoz, Atta Ur Rehman, Theodoros Giannopoulos, Carlo Rivolta, Anastasios G Konstas | Ophthalmology and therapy | 2020 |
| Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants | Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Fiona Blanco-Kelly, Jana Aguirre-Lamban, Inmaculada Martin-Merida, Ionut-Florin Iancu, Saoud Swafiri, Isabel Lorda-Sanchez, Elvira Rodriguez-Pinilla, Maria José Trujillo-Tiebas, Belen Jimenez-Rolando, Ester Carreño, Ignacio Mahillo-Fernandez, Carlo Rivolta, Marta Corton, Almudena Avila-Fernandez, Blanca Garcia-Sandoval, Carmen Ayuso | American journal of ophthalmology | 2020 |
| Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants | Shinji Ueno, Yoshito Koyanagi, Taro Kominami, Yasuki Ito, Kenichi Kawano, Koji M Nishiguchi, Carlo Rivolta, Toru Nakazawa, Koh-Hei Sonoda, Hiroko Terasaki | Japanese journal of ophthalmology | 2020 |
| Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa | Suzanne E de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uirá S Melo, Julio C Corral-Serrano, Timo Mulders, Michalis Georgiou, Carlo Rivolta, Nikolas Pontikos, Gavin Arno, Lisa Roberts, Jacquie Greenberg, Silvia Albert, Christian Gilissen, Marco Aben, George Rebello, Simon Mead, F Lucy Raymond, Jordi Corominas, Claire E L Smith, Hannie Kremer, Susan Downes, Graeme C Black, Andrew R Webster, Chris F Inglehearn, L Ingeborgh van den Born, Robert K Koenekoop, Michel Michaelides, Raj S Ramesar, Carel B Hoyng, Stefan Mundlos, Musa M Mhlanga, Frans P M Cremers, Michael E Cheetham, Susanne Roosing, Alison J Hardcastle | American journal of human genetics | 2020 |
| Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies | Arash Salmaninejad, Nicola Bedoni, Zeinab Ravesh, Mathieu Quinodoz, Nasser Shoeibi, Majid Mojarrad, Alireza Pasdar, Carlo Rivolta | Scientific reports | 2020 |
| New variants and in silico analyses in GRK1 associated Oguchi disease | James A Poulter, Molly S C Gravett, Rachel L Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Elfride De Baere, Bart P Leroy, Nigel P Davies, Robert H Henderson, Andrew R Webster, Carlo Rivolta, Christina Zeitz, Omar A Mahroo, Gavin Arno, Graeme C M Black, Martin McKibbin, Sarah A Harris, Kamron N Khan, Chris F Inglehearn | Human mutation | 2020 |
| New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV | Virginie G Peter, Mathieu Quinodoz, Silvia Sadio, Sebastian Held, Márcia Rodrigues, Marta Soares, Ana Berta Sousa, Luisa Coutinho Santos, Markus Damme, Carlo Rivolta | Human mutation | 2020 |
| Genomic and transcriptomic landscape of conjunctival melanoma | Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini-Gobert, Virginie G Peter, Beryl Royer-Bertrand, Leonidas Zografos, Ann Schalenbourg, Michael Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta | PLoS genetics | 2020 |
| AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data | Mathieu Quinodoz, Virginie G Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbari Asad, Ana Berta Sousa, Luisa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta | Nature communications | 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 |
| 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 |
| 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 |