Publications
Showing records 1 - 20 (of 138)
Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
ID
Author
Year
Title
Publisher
4694914 Yahya, Faady; Escher, Pascal; Rivolta, Carlo; Scholl, Hendrik Pn; Roulez, Francoise
2023
SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland.
Klinische Monatsblatter fur Augenheilkunde
4694917 Peter, Virginie G; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Pescini Gobert, Rosanna; Rodrigues, Raquel; Custódio, Sónia; Paris, Liliana P; Sousa, Ana Berta; Coutinho Santos, Luisa; Rivolta, Carlo
2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
PNAS nexus
4694918 Panneman, Daan M; Hitti-Malin, Rebekkah J; Holtes, Lara K; de Bruijn, Suzanne E; Reurink, Janine; Boonen, Erica G M; Khan, Muhammad Imran; Ali, Manir; Andréasson, Sten; De Baere, Elfride; Banfi, Sandro; Bauwens, Miriam; Ben-Yosef, Tamar; Bocquet, Béatrice; De Bruyne, Marieke; de la Cerda, Berta; Coppieters, Frauke; Farinelli, Pietro; Guignard, Thomas; Inglehearn, Chris F; Karali, Marianthi; Kjellström, Ulrika; Koenekoop, Robert; de Koning, Bart; Leroy, Bart P; McKibbin, Martin; Meunier, Isabelle; Nikopoulos, Konstantinos; Nishiguchi, Koji M; Poulter, James A; Rivolta, Carlo; Rodríguez de la Rúa, Enrique; Saunders, Patrick; Simonelli, Francesca; Tatour, Yasmin; Testa, Francesco; Thiadens, Alberta A H J; Toomes, Carmel; Tracewska, Anna M; Tran, Hoai Viet; Ushida, Hiroaki; Vaclavik, Veronika; Verhoeven, Virginie J M; van de Vorst, Maartje; Gilissen, Christian; Hoischen, Alexander; Cremers, Frans P M; Roosing, Susanne
2023
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Frontiers in cell and developmental biology
4694915 Ullah, Mukhtar; Rehman, Atta Ur; Folcher, Marc; Ullah, Adnan; Usman, Faisal; Rashid, Abdur; Khan, Bilal; Quinodoz, Mathieu; Ansar, Muhammad; Rivolta, Carlo
2023
A novel intronic deletion in PDE6B causes autosomal recessive retinitis pigmentosa by interfering with RNA splicing.
Ophthalmic research
4694916 Koval, Alexey; Larasati, Yonika A; Savitsky, Mikhail; Solis, Gonzalo P; Good, Jean-Marc; Quinodoz, Mathieu; Rivolta, Carlo; Superti-Furga, Andrea; Katanaev, Vladimir L
2023
In-depth molecular profiling of an intronic GNAO1 mutant as the basis for personalized high-throughput drug screening.
Med (New York, N.Y.)
4694924 Daich Varela, Malena; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P N; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Graeme; Rivolta, Carlo; Cheetham, Michael E; Michaelides, Michel; Mahroo, Omar A; Moore, Anthony T; Webster, Andrew R; Arno, Gavin
2023
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Human molecular genetics
4694919 Grosso, Andrea; Yannuzzi, Lawrence A; Tsang, Stephen H; Ceruti, Piero; Sarraf, David; Zamir, Ehud; Kaminska, Karolina; Quinodoz, Mathieu; Amoroso, Antonio; Deaglio, Silvia; Francis, Jasmine H; Fioretto, Mauro; Rivolta, Carlo; Calzetti, Giacomo
2022
A Unique Presentation of Bilateral Chorioretinal Atrophy.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
4694920 Butler-Laporte, Guillaume; Povysil, Gundula; Kosmicki, Jack A.; Cirulli, Elizabeth T.; Drivas, Theodore; Furini, Simone; Saad, Chadi; Schmidt, Axel; Olszewski, Pawel; Korotko, Urszula; Quinodoz, Mathieu; Çelik, Elifnaz; Kundu, Kousik; Walter, Klaudia; Jung, Junghyun; Stockwell, Amy D.; Sloofman, Laura G.; Jordan, Daniel M.; Thompson, Ryan C.; Del Valle, Diane; Simons, Nicole; Cheng, Esther; Sebra, Robert; Schadt, Eric E.; Kim-Schulze, Seunghee; Gnjatic, Sacha; Merad, Miriam; Buxbaum, Joseph D.; Beckmann, Noam D.; Charney, Alexander W.; Przychodzen, Bartlomiej; Chang, Timothy; Pottinger, Tess D.; Shang, Ning; Brand, Fabian; Fava, Francesca; Mari, Francesca; Chwialkowska, Karolina; Niemira, Magdalena; Pula, Szymon; Baillie, J. Kenneth; Stuckey, Alex; Salas, Antonio; Bello, Xabier; Pardo-Seco, Jacobo; Gómez-Carballa, Alberto; Rivero-Calle, Irene; Martinón-Torres, Federico; Ganna, Andrea; Karczewski, Konrad J.; Veerapen, Kumar; Bourgey, Mathieu; Bourque, Guillaume; Eveleigh, Robert Jm; Forgetta, Vincenzo; Morrison, David; Langlais, David; Lathrop, Mark; Mooser, Vincent; Nakanishi, Tomoko; Frithiof, Robert; Hultström, Michael; Lipcsey, Miklos; Marincevic-Zuniga, Yanara; Nordlund, Jessica; Schiabor Barrett, Kelly M.; Lee, William; Bolze, Alexandre; White, Simon; Riffle, Stephen; Tanudjaja, Francisco; Sandoval, Efren; Neveux, Iva; Dabe, Shaun; Casadei, Nicolas; Motameny, Susanne; Alaamery, Manal; Massadeh, Salam; Aljawini, Nora; Almutairi, Mansour S.; Arabi, Yaseen M.; Alqahtani, Saleh A.; Al Harthi, Fawz S.; Almutairi, Amal; Alqubaishi, Fatima; Alotaibi, Sarah; Binowayn, Albandari; Alsolm, Ebtehal A.; El Bardisy, Hadeel; Fawzy, Mohammad; Cai, Fang; Soranzo, Nicole; Butterworth, Adam; DeCOI Host Genetics Group,; GEN-Covid Multicenter Study,; Mount Sinai Clinical Intelligence Center,; GEN-Covid consortium,; GenOmicc Consortium,; Regeneron Genetics Center,; Geschwind, Daniel H.; Arteaga, Stephanie; Stephens, Alexis; Butte, Manish J.; Boutros, Paul C.; Yamaguchi, Takafumi N.; Tao, Shu; Eng, Stefan; Sanders, Timothy; Tung, Paul J.; Broudy, Michael E.; Pan, Yu; Gonzalez, Alfredo; Chavan, Nikhil; Johnson, Ruth; Pasaniuc, Bogdan; Yaspan, Brian; Smieszek, Sandra; Rivolta, Carlo; Bibert, Stephanie; Bochud, Pierre-Yves; Dabrowski, Maciej; Zawadzki, Pawel; Sypniewski, Mateusz; Kaja, Elżbieta; Chariyavilaskul, Pajaree; Nilaratanakul, Voraphoj; Hirankarn, Nattiya; Shotelersuk, Vorasuk; Pongpanich, Monnat; Phokaew, Chureerat; Chetruengchai, Wanna; Tokunaga, Katsushi; Sugiyama, Masaya; Kawai, Yosuke; Hasegawa, Takanori; Naito, Tatsuhiko; Namkoong, Ho; Edahiro, Ryuya; Kimura, Akinori; Ogawa, Seishi; Kanai, Takanori; Fukunaga, Koichi; Okada, Yukinori; Imoto, Seiya; Miyano, Satoru; Mangul, Serghei; Abedalthagafi, Malak S.; Zeberg, Hugo; Grzymski, Joseph J.; Washington, Nicole L.; Ossowski, Stephan; Ludwig, Kerstin U.; Schulte, Eva C.; Riess, Olaf; Moniuszko, Marcin; Kwasniewski, Miroslaw; Mbarek, Hamdi; Ismail, Said I.; Verma, Anurag; Goldstein, David B.; Kiryluk, Krzysztof; Renieri, Alessandra; Ferreira, Manuel A. R.; Richards, J. Brent
2022
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
PLoS Genetics
4694930 Han, Ji Hoon; Ryan, Gavin; Guy, Alyson; Liu, Lu; Quinodoz, Mathieu; Helbling, Ingrid; Lai-Cheong, Joey E.; Genomics England Research Consortium,; Barwell, Julian; Folcher, Marc; McGrath, John A.; Moss, Celia; Rivolta, Carlo
2022
Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder
Human Molecular Genetics
4694923 Van de Sompele, Stijn; Small, Kent W; Cicekdal, Munevver Burcu; Soriano, Víctor López; D'haene, Eva; Shaya, Fadi S; Agemy, Steven; Van der Snickt, Thijs; Rey, Alfredo Dueñas; Rosseel, Toon; Van Heetvelde, Mattias; Vergult, Sarah; Balikova, Irina; Bergen, Arthur A; Boon, Camiel J F; De Zaeytijd, Julie; Inglehearn, Chris F; Kousal, Bohdan; Leroy, Bart P; Rivolta, Carlo; Vaclavik, Veronika; van den Ende, Jenneke; van Schooneveld, Mary J; Gómez-Skarmeta, José Luis; Tena, Juan J; Martinez-Morales, Juan R; Liskova, Petra; Vleminckx, Kris; De Baere, Elfride
2022
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
American journal of human genetics
4694927 Schroeder, Marion; Peter, Virginie G.; Gränse, Lotta; Andréasson, Sten; Rivolta, Carlo; Kjellström, Ulrika
2022
A novel phenotype associated with the R162W variant in the KCNJ13 gene
Ophthalmic genetics
4694928 Nardou, Katya; Nicolas, Michael; Kuttler, Fabien; Cisarova, Katarina; Celik, Elifnaz; Quinodoz, Mathieu; Riggi, Nicolo; Michielin, Olivier; Rivolta, Carlo; Turcatti, Gerardo; Moulin, Alexandre Pierre
2022
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening
Cancers
4694922 Jurkute, Neringa; Cancellieri, Francesca; Pohl, Lisa; Li, Catherina H Z; Heaton, Robert A; Reurink, Janine; Bellingham, James; Quinodoz, Mathieu; Yioti, Georgia; Stefaniotou, Maria; Weener, Marianna; Zuleger, Theresia; Haack, Tobias B; Stingl, Katarina; Genomics England Research Consortium, ; Hoyng, Carel B; Mahroo, Omar A; Hargreaves, Iain; Raymond, F Lucy; Michaelides, Michel; Rivolta, Carlo; Kohl, Susanne; Roosing, Susanne; Webster, Andrew R; Arno, Gavin
2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
NPJ genomic medicine
4694929 Quinodoz, Mathieu; Peter, Virginie G.; Cisarova, Katarina; Royer-Bertrand, Beryl; Stenson, Peter D.; Cooper, David N.; Unger, Sheila; Superti-Furga, Andrea; Rivolta, Carlo
2022
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
American Journal of Human Genetics (AJHG)
4631207 Gonçalves, André Brás; Hasselbalch, Sarah Kirstine; Joensen, Beinta Biskopstø; Patzke, Sebastian; Martens, Pernille; Ohlsen, Signe Krogh; Quinodoz, Mathieu; Nikopoulos, Konstantinos; Suleiman, Reem; Damsø Jeppesen, Magnus Per; Weiss, Catja; Christensen, Søren Tvorup; Rivolta, Carlo; Andersen, Jens S.; Farinelli, Pietro; Pedersen, Lotte Bang
2021
CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels
eLife
4631203 Azhar Baig, Hafiz Muhammad; Ansar, Muhammad; Iqbal, Afia; Naeem, Muhammad Asif; Quinodoz, Mathieu; Calzetti, Giacomo; Iqbal, Muhammad; Rivolta, Carlo
2021
Genetic analysis of consanguineous Pakistani families with congenital stationary night blindness.
Ophthalmic research
4631211 Atallah, Isis; Quinodoz, Mathieu; Campos-Xavier, Belinda; Peter, Virginie G; Fouriki, Athina; Bonvin, Christophe; Bottani, Armand; Kumps, Camille; Angelini, Federica; Bellutti Enders, Felicitas; Christen-Zaech, Stéphanie; Rizzi, Mattia; Renella, Raffaele; Beck-Popovic, Maja; Poloni, Claudia; Frossard, Valérie; Blouin, Jean-Louis; Rivolta, Carlo; Riccio, Orbicia; Candotti, Fabio; Hofer, Michael; Unger, Sheila; Superti-Furga, Andrea
2021
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene.
Clinical genetics
4631210 Ruberto, Francesco Paolo; Balzano, Sara; Namburi, Prasanthi; Kimchi, Adva; Pescini-Gobert, Rosanna; Obolensky, Alexey; Banin, Eyal; Ben-Yosef, Tamar; Sharon, Dror; Rivolta, Carlo
2021
Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression
Molecular Vision
4616002 Quinodoz, Mathieu; Peter, Virginie G.; Bedoni, Nicola; Royer Bertrand, Béryl; Cisarova, Katarina; Salmaninejad, Arash; Sepahi, Neda; Rodrigues, Raquel; Piran, Mehran; Mojarrad, Majid; Pasdar, Alireza; Ghanbari Asad, Ali; Sousa, Ana Berta; Coutinho Santos, Luisa; Superti-Furga, Andrea; Rivolta, Carlo
2021
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
Nature Communications
4610253 Peter, Virginie G.; Quinodoz, Mathieu; Sadio, Silvia; Held, Sebastian; Rodrigues, Márcia; Soares, Marta; Sousa, Ana Berta; Santos, Luisa Coutinho; Damme, Markus; Rivolta, Carlo
2021
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV
Human Mutation
Showing records 1 - 20 (of 138)
