Items where Division is "09 Associated Institutions > Institute of Molecular and Clinical Ophthalmology Basel (IOB)"
Number of items at this level: 110. 2021Allou, Lila and Balzano, Sara and Magg, Andreas and Quinodoz, Mathieu and Royer-Bertrand, Beryl and Schöpflin, Robert and Chan, Wing-Lee and Speck-Martins, Carlos E. and Carvalho, Daniel Rocha and Farage, Luciano and Lourenço, Charles Marques and Albuquerque, Regina and Rajagopal, Srilakshmi and Nampoothiri, Sheela and Campos-Xavier, Belinda and Chiesa, Carole and Niel-Bütschi, Florence and Wittler, Lars and Timmermann, Bernd and Spielmann, Malte and Robson, Michael I. and Ringel, Alessa and Heinrich, Verena and Cova, Giulia and Andrey, Guillaume and Prada-Medina, Cesar A. and Pescini-Gobert, Rosanna and Unger, Sheila and Bonafé, Luisa and Grote, Phillip and Rivolta, Carlo and Mundlos, Stefan and Superti-Furga, Andrea. (2021) Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature, 592. pp. 93-98. Nishiguchi, Koji M. and Miya, Fuyuki and Mori, Yuka and Fujita, Kosuke and Akiyama, Masato and Kamatani, Takashi and Koyanagi, Yoshito and Sato, Kota and Takigawa, Toru and Ueno, Shinji and Tsugita, Misato and Kunikata, Hiroshi and Cisarova, Katarina and Nishino, Jo and Murakami, Akira and Abe, Toshiaki and Momozawa, Yukihide and Terasaki, Hiroko and Wada, Yuko and Sonoda, Koh-Hei and Rivolta, Carlo and Tsunoda, Tatsuhiko and Tsujikawa, Motokazu and Ikeda, Yasuhiro and Nakazawa, Toru. (2021) A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. Communications Biology, 4 (1). p. 140. Perea-Romero, Irene and Gordo, Gema and Iancu, Ionut F. and Del Pozo-Valero, Marta and Almoguera, Berta and Blanco-Kelly, Fiona and Carreño, Ester and Jimenez-Rolando, Belen and Lopez-Rodriguez, Rosario and Lorda-Sanchez, Isabel and Martin-Merida, Inmaculada and Pérez de Ayala, Lucia and Riveiro-Alvarez, Rosa and Rodriguez-Pinilla, Elvira and Tahsin-Swafiri, Saoud and Trujillo-Tiebas, Maria J. and Esretnet Study Group, and Erdc Study Group, and Associated Clinical Study Group, and Garcia-Sandoval, Blanca and Minguez, Pablo and Avila-Fernandez, Almudena and Corton, Marta and Ayuso, Carmen. (2021) Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Scientific Reports, 11 (1). p. 1526. Peter, Virginie G. and Quinodoz, Mathieu and Sadio, Silvia and Held, Sebastian and Rodrigues, Márcia and Soares, Marta and Sousa, Ana Berta and Santos, Luisa Coutinho and Damme, Markus and Rivolta, Carlo. (2021) New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. Human Mutation, 42 (3). pp. 261-271. Quinodoz, Mathieu and Peter, Virginie G. and Bedoni, Nicola and Royer Bertrand, Béryl and Cisarova, Katarina and Salmaninejad, Arash and Sepahi, Neda and Rodrigues, Raquel and Piran, Mehran and Mojarrad, Majid and Pasdar, Alireza and Ghanbari Asad, Ali and Sousa, Ana Berta and Coutinho Santos, Luisa and Superti-Furga, Andrea and Rivolta, Carlo. (2021) AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nature Communications, 12 (1). p. 518. Rehman, Atta Ur and Sepahi, Neda and Bedoni, Nicola and Ravesh, Zeinab and Salmaninejad, Arash and Cancellieri, Francesca and Peter, Virginie G. and Quinodoz, Mathieu and Mojarrad, Majid and Pasdar, Alireza and Asad, Ali Ghanbari and Ghalamkari, Saman and Piran, Mehran and Piran, Mehrdad and Superti-Furga, Andrea and Rivolta, Carlo. (2021) Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. Scientific Reports, 11 (1). p. 19332. 2020Ansar, Muhammad and Ranza, Emmanuelle and Shetty, Madhur and Paracha, Sohail A. and Azam, Maleeha and Kern, Ilse and Iwaszkiewicz, Justyna and Farooq, Omer and Pournaras, Constantin J. and Malcles, Ariane and Kecik, Mateusz and Rivolta, Carlo and Muzaffar, Waqar and Qurban, Aziz and Ali, Liaqat and Aggoun, Yacine and Santoni, Federico A. and Makrythanasis, Periklis and Ahmed, Jawad and Qamar, Raheel and Sarwar, Muhammad T. and Henry, L. Keith and Antonarakis, Stylianos E.. (2020) Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency. Human molecular genetics, 29 (4). pp. 618-623. Ascari, Giulia and Peelman, Frank and Farinelli, Pietro and Rosseel, Toon and Lambrechts, Nina and Wunderlich, Kirsten A. and Wagner, Matias and Nikopoulos, Konstantinos and Martens, Pernille and Balikova, Irina and Derycke, Lara and Holtappels, Gabriële and Krysko, Olga and Van Laethem, Thalia and De Jaegere, Sarah and Guillemyn, Brecht and De Rycke, Riet and De Bleecker, Jan and Creytens, David and Van Dorpe, Jo and Gerris, Jan and Bachert, Claus and Neuhofer, Christiane and Walraedt, Sophie and Bischoff, Almut and Pedersen, Lotte B. and Klopstock, Thomas and Rivolta, Carlo and Leroy, Bart P. and De Baere, Elfride and Coppieters, Frauke. (2020) Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility. Human mutation, 41 (5). pp. 998-1011. Bastos, Filipa and Quinodoz, Mathieu and Addor, Marie-Claude and Royer-Bertrand, Beryl and Fodstad, Heidi and Rivolta, Carlo and Poloni, Claudia and Superti-Furga, Andrea and Roulet-Perez, Eliane and Lebon, Sebastien. (2020) Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature. BMC neurology, 20 (1). p. 17. Bedoni, Nicola and Quinodoz, Mathieu and Pinelli, Michele and Cappuccio, Gerarda and Torella, Annalaura and Nigro, Vincenzo and Testa, Francesco and Simonelli, Francesca and Telethon Undiagnosed Disease Programm, and Corton, Marta and Lualdi, Susanna and Lanza, Federica and Morana, Giovanni and Ayuso, Carmen and Di Rocco, Maja and Filocamo, Mirella and Banfi, Sandro and Brunetti-Pierri, Nicola and Superti-Furga, Andrea and Rivolta, Carlo. (2020) An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. Human molecular genetics, 29 (13). pp. 2250-2260. Cisarova, Katarina and Folcher, Marc and El Zaoui, Ikram and Pescini-Gobert, Rosanna and Peter, Virginie G. and Royer-Bertrand, Beryl and Zografos, Leonidas and Schalenbourg, Ann and Nicolas, Michael and Rimoldi, Donata and Leyvraz, Serge and Riggi, Nicolò and Moulin, Alexandre P. and Rivolta, Carlo. (2020) Genomic and transcriptomic landscape of conjunctival melanoma. PLoS genetics, 16 (12). e1009201. Del Pozo-Valero, Marta and Riveiro-Alvarez, Rosa and Blanco-Kelly, Fiona and Aguirre-Lamban, Jana and Martin-Merida, Inmaculada and Iancu, Ionut-Florin and Swafiri, Saoud and Lorda-Sanchez, Isabel and Rodriguez-Pinilla, Elvira and Trujillo-Tiebas, Maria José and Jimenez-Rolando, Belen and Carreño, Ester and Mahillo-Fernandez, Ignacio and Rivolta, Carlo and Corton, Marta and Avila-Fernandez, Almudena and Garcia-Sandoval, Blanca and Ayuso, Carmen. (2020) Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants. American journal of ophthalmology, 219. pp. 195-204. Gallay, Caroline and Meylan, Patrick and Mermoud, Sophie and Johannsen, Alexandre and Lang, Caroline and Rivolta, Carlo and Christen-Zaech, Stephanie. (2020) Genetic predisposition and environmental factors associated with the development of atopic dermatitis in infancy: a prospective birth cohort study. European journal of pediatrics, 179 (9). pp. 1367-1377. Hanany, Mor and Rivolta, Carlo and Sharon, Dror. (2020) Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proceedings of the National Academy of Sciences of the United States of America, 117 (5). pp. 2710-2716. Panagiotou, Evangelia S. and Papathomas, Thomas and Nikopoulos, Konstantinos and Koukoula, Stavrenia and Quinodoz, Mathieu and Rehman, Atta Ur and Giannopoulos, Theodoros and Rivolta, Carlo and Konstas, Anastasios G.. (2020) Management of Full-Thickness Macular Hole in A Genetically Confirmed Case with Usher Syndrome. Ophthalmology and Therapy, 9 (3). pp. 677-684. Poulter, James A. and Gravett, Molly S. C. and Taylor, Rachel L. and Fujinami, Kaoru and De Zaeytijd, Julie and Bellingham, James and Rehman, Atta Ur and Hayashi, Takaaki and Kondo, Mineo and Rehman, Abdur and Ansar, Muhammad and Donnelly, Dan and Toomes, Carmel and Ali, Manir and U. K. Inherited Retinal Disease Consortium, and De Baere, Elfride and Leroy, Bart P. and Davies, Nigel P. and Henderson, Robert H. and Webster, Andrew R. and Rivolta, Carlo and Mahroo, Omar A. and Arno, Gavin and Black, Graeme C. M. and McKibbin, Martin and Harris, Sarah A. and Khan, Kamron N. and Inglehearn, Chris F.. (2020) New variants and in silico analyses in GRK1 associated Oguchi disease. Human Mutation. pp. 1-13. Rehman, Atta Ur and Peter, Virginie G. and Quinodoz, Mathieu and Dawood, Muhammad and Rivolta, Carlo. (2020) Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa. Clinical Dysmorphology, 29 (2). pp. 86-89. Salmaninejad, Arash and Bedoni, Nicola and Ravesh, Zeinab and Quinodoz, Mathieu and Shoeibi, Nasser and Mojarrad, Majid and Pasdar, Alireza and Rivolta, Carlo. (2020) Whole exome sequencing and homozygosity mapping reveals genetic defects in consanguineous Iranian families with inherited retinal dystrophies. Scientific reports, 10 (1). p. 19413. Ueno, Shinji and Koyanagi, Yoshito and Kominami, Taro and Ito, Yasuki and Kawano, Kenichi and Nishiguchi, Koji M. and Rivolta, Carlo and Nakazawa, Toru and Sonoda, Koh-Hei and Terasaki, Hiroko. (2020) Clinical characteristics and high resolution retinal imaging of retinitis pigmentosa caused by RP1 gene variants. Japanese Journal of Ophthalmology, 64 (5). pp. 485-496. de Bruijn, Suzanne E. and Fiorentino, Alessia and Ottaviani, Daniele and Fanucchi, Stephanie and Melo, Uirá S. and Corral-Serrano, Julio C. and Mulders, Timo and Georgiou, Michalis and Rivolta, Carlo and Pontikos, Nikolas and Arno, Gavin and Roberts, Lisa and Greenberg, Jacquie and Albert, Silvia and Gilissen, Christian and Aben, Marco and Rebello, George and Mead, Simon and Raymond, F. Lucy and Corominas, Jordi and Smith, Claire E. L. and Kremer, Hannie and Downes, Susan and Black, Graeme C. and Webster, Andrew R. and Inglehearn, Chris F. and van den Born, L. Ingeborgh and Koenekoop, Robert K. and Michaelides, Michel and Ramesar, Raj S. and Hoyng, Carel B. and Mundlos, Stefan and Mhlanga, Musa M. and Cremers, Frans P. M. and Cheetham, Michael E. and Roosing, Susanne and Hardcastle, Alison J.. (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. American Journal of Human Genetics, 107 (5). pp. 802-814. 2019Bibert, Stéphanie and Piret, Jocelyne and Quinodoz, Mathieu and Collinet, Emilie and Zoete, Vincent and Michielin, Olivier and Menasria, Rafik and Meylan, Pascal and Bihl, Titus and Erard, Véronique and Fellmann, Florence and Rivolta, Carlo and Boivin, Guy and Bochud, Pierre-Yves. (2019) Herpes simplex encephalitis in adult patients with MASP-2 deficiency. PLoS Pathogens, 15 (12). e1008168. Del Pozo-Valero, Marta and Martin-Merida, Inmaculada and Jimenez-Rolando, Belen and Arteche, Ana and Avila-Fernandez, Almudena and Blanco-Kelly, Fiona and Riveiro-Alvarez, Rosa and Van Cauwenbergh, Caroline and De Baere, Elfride and Rivolta, Carlo and Garcia-Sandoval, Blanca and Corton, Marta and Ayuso, Carmen. (2019) Expanded Phenotypic Spectrum of Retinopathies Associated with Autosomal Recessive and Dominant Mutations in PROM1. American journal of ophthalmology, 207. pp. 204-214. El Zaoui, Ikram and Bucher, Maya and Rimoldi, Donata and Nicolas, Michael and Kaya, Gurkan and Pescini Gobert, Rosanna and Bedoni, Nicola and Schalenbourg, Ann and Sakina, Ezziat and Zografos, Leonidas and Leyvraz, Serge and Riggi, Nicolo and Rivolta, Carlo and Moulin, Alexandre P.. (2019) Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition. Investigative Ophthalmology & Visual Science, 60 (7). pp. 2764-2772. Moye, Abigail R. and Bedoni, Nicola and Cunningham, Jessica G. and Sanzhaeva, Urikhan and Tucker, Eric S. and Mathers, Peter and Peter, Virginie G. and Quinodoz, Mathieu and Paris, Liliana P. and Coutinho-Santos, Luísa and Camacho, Pedro and Purcell, Madeleine G. and Winkelmann, Abbie C. and Foster, James A. and Pugacheva, Elena N. and Rivolta, Carlo and Ramamurthy, Visvanathan. (2019) Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS Genetics, 15 (8). e1008315. Nikopoulos, Konstantinos and Cisarova, Katarina and Quinodoz, Mathieu and Koskiniemi-Kuendig, Hanna and Miyake, Noriko and Farinelli, Pietro and Rehman, Atta Ur and Khan, Muhammad Imran and Prunotto, Andrea and Akiyama, Masato and Kamatani, Yoichiro and Terao, Chikashi and Miya, Fuyuki and Ikeda, Yasuhiro and Ueno, Shinji and Fuse, Nobuo and Murakami, Akira and Wada, Yuko and Terasaki, Hiroko and Sonoda, Koh-Hei and Ishibashi, Tatsuro and Kubo, Michiaki and Cremers, Frans P. M. and Kutalik, Zoltán and Matsumoto, Naomichi and Nishiguchi, Koji M. and Nakazawa, Toru and Rivolta, Carlo. (2019) A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications, 10 (1). p. 2884. Peter, Virginie G. and Nikopoulos, Konstantinos and Quinodoz, Mathieu and Granse, Lotta and Farinelli, Pietro and Superti-Furga, Andrea and Andréasson, Sten and Rivolta, Carlo. (2019) A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. Ophthalmic Genetics, 40 (2). pp. 177-181. Peter, Virginie G. and Quinodoz, Mathieu and Pinto-Basto, Jorge and Sousa, Sergio B. and Di Gioia, Silvio Alessandro and Soares, Gabriela and Ferraz Leal, Gabriela and Silva, Eduardo D. and Pescini Gobert, Rosanna and Miyake, Noriko and Matsumoto, Naomichi and Engle, Elizabeth C. and Unger, Sheila and Shapiro, Frederic and Superti-Furga, Andrea and Rivolta, Carlo and Campos-Xavier, Belinda. (2019) The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene. Genetics in medicine, 21 (12). pp. 2734-2743. Rehman, Atta Ur and Peter, Virginie G. and Quinodoz, Mathieu and Rashid, Abdur and Khan, Syed Akhtar and Superti-Furga, Andrea and Rivolta, Carlo. (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. Genes, 11 (1). p. 13. Royer-Bertrand, Béryl and Tsouni, Pinelopi and Mullen, Patrick and Campos Xavier, Belinda and Mittaz Crettol, Lauréane and Lobrinus, Alexander J. and Ghika, Joseph and Baumgartner, Matthias R. and Rivolta, Carlo and Superti-Furga, Andrea and Kuntzer, Thierry and Francklyn, Christopher and Tran, Christel. (2019) Peripheral neuropathy and cognitive impairment associated with a novel monoallelic; HARS; variant. Annals of clinical and translational neurology, 6 (6). pp. 1072-1080. Verbakel, Sanne K. and van Huet, Ramon A. C. and den Hollander, Anneke I. and Geerlings, Maartje J. and Kersten, Eveline and Klevering, B. Jeroen and Klaver, Caroline C. W. and Plomp, Astrid S. and Wesseling, Nieneke L. and Bergen, Arthur A. B. and Nikopoulos, Konstantinos and Rivolta, Carlo and Ikeda, Yasuhiro and Sonoda, Koh-Hei and Wada, Yuko and Boon, Camiel J. F. and Nakazawa, Toru and Hoyng, Carel B. and Nishiguchi, Koji M.. (2019) Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum. Investigative Ophthalmology & Visual Science, 60 (4). pp. 1192-1203. Zhao, Min and Mantel, Irmela and Gelize, Emmanuelle and Li, Xinxin and Xie, Xiaoyue and Arboleda, Alejandro and Seminel, Marie and Levy-Boukris, Rinath and Dernigoghossian, Marilyn and Prunotto, Andrea and Andrieu-Soler, Charlotte and Rivolta, Carlo and Canonica, Jérémie and Naud, Marie-Christine and Lechner, Sebastian and Farman, Nicolette and Bravo-Osuna, Irene and Herrero-Vanrell, Rocio and Jaisser, Frederic and Behar-Cohen, Francine. (2019) Mineralocorticoid receptor antagonism limits experimental choroidal neovascularization and structural changes associated with neovascular age-related macular degeneration. Nature Communications, 10 (1). p. 369. 2018Fregni, Giulia and Quinodoz, Mathieu and Möller, Emely and Vuille, Joanna and Galland, Sabine and Fusco, Carlo and Martin, Patricia and Letovanec, Igor and Provero, Paolo and Rivolta, Carlo and Riggi, Nicolo and Stamenkovic, Ivan. (2018) Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis. EBioMedicine, 29. pp. 128-145. Khateb, Samer and Kowalewski, Björn and Bedoni, Nicola and Damme, Markus and Pollack, Netta and Saada, Ann and Obolensky, Alexey and Ben-Yosef, Tamar and Gross, Menachem and Dierks, Thomas and Banin, Eyal and Rivolta, Carlo and Sharon, Dror. (2018) A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genetics in medicine, 20 (9). pp. 1004-1012. 2017Quinodoz, Mathieu and Royer-Bertrand, Beryl and Cisarova, Katarina and Di Gioia, Silvio Alessandro and Superti-Furga, Andrea and Rivolta, Carlo. (2017) DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders. American Journal of Human Genetics, 101 (4). pp. 623-629. Volpi, Stefano and Yamazaki, Yasuhiro and Brauer, Patrick M. and van Rooijen, Ellen and Hayashida, Atsuko and Slavotinek, Anne and Sun Kuehn, Hye and Di Rocco, Maja and Rivolta, Carlo and Bortolomai, Ileana and Du, Likun and Felgentreff, Kerstin and Ott de Bruin, Lisa and Hayashida, Kazutaka and Freedman, George and Marcovecchio, Genni Enza and Capuder, Kelly and Rath, Prisni and Luche, Nicole and Hagedorn, Elliott J. and Buoncompagni, Antonella and Royer-Bertrand, Beryl and Giliani, Silvia and Poliani, Pietro Luigi and Imberti, Luisa and Dobbs, Kerry and Poulain, Fabienne E. and Martini, Alberto and Manis, John and Linhardt, Robert J. and Bosticardo, Marita and Rosenzweig, Sergio Damian and Lee, Hane and Puck, Jennifer M. and Zúñiga-Pflücker, Juan Carlos and Zon, Leonard and Park, Pyong Woo and Superti-Furga, Andrea and Notarangelo, Luigi D.. (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. Journal of Experimental Medicine, 214 (3). pp. 623-637. 2016Bedoni, Nicola and Haer-Wigman, Lonneke and Vaclavik, Veronika and Tran, Viet H. and Farinelli, Pietro and Balzano, Sara and Royer-Bertrand, Beryl and El-Asrag, Mohammed E. and Bonny, Olivier and Ikonomidis, Christos and Litzistorf, Yan and Nikopoulos, Konstantinos and Yioti, Georgia G. and Stefaniotou, Maria I. and McKibbin, Martin and Booth, Adam P. and Ellingford, Jamie M. and Black, Graeme C. and Toomes, Carmel and Inglehearn, Chris F. and Hoyng, Carel B. and Bax, Nathalie and Klaver, Caroline C. W. and Thiadens, Alberta A. and Murisier, Fabien and Schorderet, Daniel F. and Ali, Manir and Cremers, Frans P. M. and Andréasson, Sten and Munier, Francis L. and Rivolta, Carlo. (2016) Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics, 25 (20). pp. 4546-4555. Bonafé, Luisa and Kariminejad, Ariana and Li, Jia and Royer-Bertrand, Beryl and Garcia, Virginie and Mahdavi, Shokouholsadat and Bozorgmehr, Bita and Lachman, Ralph L. and Mittaz-Crettol, Lauréane and Campos-Xavier, Belinda and Nampoothiri, Sheela and Unger, Sheila and Rivolta, Carlo and Levade, Thierry and Superti-Furga, Andrea. (2016) Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease. Arthritis & rheumatology, 68 (9). pp. 2323-2327. Coppieters, Frauke and Ascari, Giulia and Dannhausen, Katharina and Nikopoulos, Konstantinos and Peelman, Frank and Karlstetter, Marcus and Xu, Mingchu and Brachet, Cécile and Meunier, Isabelle and Tsilimbaris, Miltiadis K. and Tsika, Chrysanthi and Blazaki, Styliani V. and Vergult, Sarah and Farinelli, Pietro and Van Laethem, Thalia and Bauwens, Miriam and De Bruyne, Marieke and Chen, Rui and Langmann, Thomas and Sui, Ruifang and Meire, Françoise and Rivolta, Carlo and Hamel, Christian P. and Leroy, Bart P. and De Baere, Elfride. (2016) Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. American Journal of Human Genetics, 99 (2). pp. 470-480. Kiper, Pelin O. Simsek and Saito, Hiroaki and Gori, Francesca and Unger, Sheila and Hesse, Eric and Yamana, Kei and Kiviranta, Riku and Solban, Nicolas and Liu, Jeff and Brommage, Robert and Boduroglu, Koray and Bonafé, Luisa and Campos-Xavier, Belinda and Dikoglu, Esra and Eastell, Richard and Gossiel, Fatma and Harshman, Keith and Nishimura, Gen and Girisha, Katta M. and Stevenson, Brian J. and Takita, Hiroyuki and Rivolta, Carlo and Superti-Furga, Andrea and Baron, Roland. (2016) Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. The New England Journal of Medicine, 374 (26). pp. 2553-2562. Nikopoulos, K. and Butt, G. U. and Farinelli, P. and Mudassar, M. and Domènech-Estévez, E. and Samara, C. and Kausar, M. and Masroor, I. and Chrast, R. and Rivolta, C. and Siddiqi, S.. (2016) A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family. Clinical Genetics, 89 (4). pp. 510-511. Nikopoulos, Konstantinos and Farinelli, Pietro and Giangreco, Basilio and Tsika, Chrysanthi and Royer-Bertrand, Beryl and Mbefo, Martial K. and Bedoni, Nicola and Kjellström, Ulrika and El Zaoui, Ikram and Di Gioia, Silvio Alessandro and Balzano, Sara and Cisarova, Katarina and Messina, Andrea and Decembrini, Sarah and Plainis, Sotiris and Blazaki, Styliani V. and Khan, Muhammad Imran and Micheal, Shazia and Boldt, Karsten and Ueffing, Marius and Moulin, Alexandre P. and Cremers, Frans P. M. and Roepman, Ronald and Arsenijevic, Yvan and Tsilimbaris, Miltiadis K. and Andréasson, Sten and Rivolta, Carlo. (2016) Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics, 99 (3). pp. 770-776. Rivolta, Carlo and Royer-Bertrand, Beryl and Rimoldi, Donata and Schalenbourg, Ann and Zografos, Leonidas and Leyvraz, Serge and Moulin, Alexandre. (2016) UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation. Journal of human genetics, 61. pp. 361-362. Rose, Anna M. and Shah, Amna Z. and Venturini, Giulia and Krishna, Abhay and Chakravarti, Aravinda and Rivolta, Carlo and Bhattacharya, Shomi S.. (2016) Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa. Scientific Reports, 6. p. 19450. Royer-Bertrand, Beryl and Torsello, Matteo and Rimoldi, Donata and El Zaoui, Ikram and Cisarova, Katarina and Pescini-Gobert, Rosanna and Raynaud, Franck and Zografos, Leonidas and Schalenbourg, Ann and Speiser, Daniel and Nicolas, Michael and Vallat, Laureen and Klein, Robert and Leyvraz, Serge and Ciriello, Giovanni and Riggi, Nicolò and Moulin, Alexandre P. and Rivolta, Carlo. (2016) Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing. American Journal of Human Genetics, 99 (5). pp. 1190-1198. Sanchez-Alcudia, Rocio and Garcia-Hoyos, Maria and Lopez-Martinez, Miguel Angel and Sanchez-Bolivar, Noelia and Zurita, Olga and Gimenez, Ascension and Villaverde, Cristina and Rodrigues-Jacy da Silva, Luciana and Corton, Marta and Perez-Carro, Raquel and Torriano, Simona and Kalatzis, Vasiliki and Rivolta, Carlo and Avila-Fernandez, Almudena and Lorda, Isabel and Trujillo-Tiebas, Maria J. and Garcia-Sandoval, Blanca and Lopez-Molina, Maria Isabel and Blanco-Kelly, Fiona and Riveiro-Alvarez, Rosa and Ayuso, Carmen. (2016) A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice. PLoS ONE, 11 (4). e0151943. Sharon, Dror and Kimchi, Adva and Rivolta, Carlo. (2016) OR2W3 sequence variants are unlikely to cause inherited retinal diseases. Ophthalmic Genetics, 37 (4). pp. 366-368. van Karnebeek, Clara D. M. and Bonafé, Luisa and Wen, Xiao-Yan and Tarailo-Graovac, Maja and Balzano, Sara and Royer-Bertrand, Beryl and Ashikov, Angel and Garavelli, Livia and Mammi, Isabella and Turolla, Licia and Breen, Catherine and Donnai, Dian and Cormier-Daire, Valérie and Heron, Delphine and Nishimura, Gen and Uchikawa, Shinichi and Campos-Xavier, Belinda and Rossi, Antonio and Hennet, Thierry and Brand-Arzamendi, Koroboshka and Rozmus, Jacob and Harshman, Keith and Stevenson, Brian J. and Girardi, Enrico and Superti-Furga, Giulio and Dewan, Tammie and Collingridge, Alissa and Halparin, Jessie and Ross, Colin J. and Van Allen, Margot I. and Rossi, Andrea and Engelke, Udo F. and Kluijtmans, Leo A. J. and van der Heeft, Ed and Renkema, Herma and de Brouwer, Arjan and Huijben, Karin and Zijlstra, Fokje and Heise, Torben and Boltje, Thomas and Wasserman, Wyeth W. and Rivolta, Carlo and Unger, Sheila and Lefeber, Dirk J. and Wevers, Ron A. and Superti-Furga, Andrea. 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Corton, Marta and Nishiguchi, Koji M. and Avila-Fernández, Almudena and Nikopoulos, Konstantinos and Riveiro-Alvarez, Rosa and Tatu, Sorina D. and Ayuso, Carmen and Rivolta, Carlo. (2013) Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. PLoS ONE, 8 (6). e65574. Nishiguchi, Koji M. and Tearle, Richard G. and Liu, Yangfan P. and Oh, Edwin C. and Miyake, Noriko and Benaglio, Paola and Harper, Shyana and Koskiniemi-Kuendig, Hanna and Venturini, Giulia and Sharon, Dror and Koenekoop, Robert K. and Nakamura, Makoto and Kondo, Mineo and Ueno, Shinji and Yasuma, Tetsuhiro R. and Beckmann, Jacques S. and Ikegawa, Shiro and Matsumoto, Naomichi and Terasaki, Hiroko and Berson, Eliot L. and Katsanis, Nicholas and Rivolta, Carlo. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences, 110 (40). pp. 16139-16144. Salvi, Erika and Kuznetsova, Tatiana and Thijs, Lutgarde and Lupoli, Sara and Stolarz-Skrzypek, Katarzyna and D'Avila, Francesca and Tikhonoff, Valerie and De Astis, Silvia and Barcella, Matteo and Seidlerová, Jitka and Benaglio, Paola and Malyutina, Sofia and Frau, Francesca and Velayutham, Dinesh and Benfante, Roberta and Zagato, Laura and Title, Alexandra and Braga, Daniele and Marek, Diana and Kawecka-Jaszcz, Kalina and Casiglia, Edoardo and Filipovsky, Jan and Nikitin, Yuri and Rivolta, Carlo and Manunta, Paolo and Beckmann, Jacques S. and Barlassina, Cristina and Cusi, Daniele and Staessen, Jan A.. (2013) Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene. Hypertension, 62 (5). pp. 844-852. 2012Avila-Fernandez, Almudena and Corton, Marta and Nishiguchi, Koji M. and Muñoz-Sanz, Nelida and Benavides-Mori, Belen and Blanco-Kelly, Fiona and Riveiro-Alvarez, Rosa and Garcia-Sandoval, Blanca and Rivolta, Carlo and Ayuso, Carmen. (2012) Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis. Ophthalmology, 119 (12). pp. 2616-2621. Azzedine, H. and Senderek, J. and Rivolta, C. and Chrast, R.. (2012) Molecular genetics of charcot-marie-tooth disease: from genes to genomes. Molecular syndromology, 3 (5). pp. 204-214. Di Gioia, Silvio Alessandro and Letteboer, Stef J. F. and Kostic, Corinne and Bandah-Rozenfeld, Dikla and Hetterschijt, Lisette and Sharon, Dror and Arsenijevic, Yvan and Roepman, Ronald and Rivolta, Carlo. (2012) FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Human Molecular Genetics, 21 (23). pp. 5174-5184. Nishiguchi, Koji M. and Rivolta, Carlo. (2012) Genes associated with retinitis pigmentosa and allied diseases are frequently mutated in the general population. PLoS ONE, 7 (7). e41902. Salvi, Erika and Kutalik, Zoltán and Glorioso, Nicola and Benaglio, Paola and Frau, Francesca and Kuznetsova, Tatiana and Arima, Hisatomi and Hoggart, Clive and Tichet, Jean and Nikitin, Yury P. and Conti, Costanza and Seidlerova, Jitka and Tikhonoff, Valérie and Stolarz-Skrzypek, Katarzyna and Johnson, Toby and Devos, Nabila and Zagato, Laura and Guarrera, Simonetta and Zaninello, Roberta and Calabria, Andrea and Stancanelli, Benedetta and Troffa, Chiara and Thijs, Lutgarde and Rizzi, Federica and Simonova, Galina and Lupoli, Sara and Argiolas, Giuseppe and Braga, Daniele and D'Alessio, Maria C. and Ortu, Maria F. and Ricceri, Fulvio and Mercurio, Maurizio and Descombes, Patrick and Marconi, Maurizio and Chalmers, John and Harrap, Stephen and Filipovsky, Jan and Bochud, Murielle and Iacoviello, Licia and Ellis, Justine and Stanton, Alice V. and Laan, Maris and Padmanabhan, Sandosh and Dominiczak, Anna F. and Samani, Nilesh J. and Melander, Olle and Jeunemaitre, Xavier and Manunta, Paolo and Shabo, Amnon and Vineis, Paolo and Cappuccio, Francesco P. and Caulfield, Mark J. and Matullo, Giuseppe and Rivolta, Carlo and Munroe, Patricia B. and Barlassina, Cristina and Staessen, Jan A. and Beckmann, Jacques S. and Cusi, Daniele. (2012) Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Hypertension, 59 (2). pp. 248-255. Venturini, Giulia and Moulin, Alexandre P. and Deprez, Manuel and Uffer, Sylvie and Bottani, Armand and Zografos, Leonidas and Rivolta, Carlo. (2012) Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. Ophthalmology, 119 (4). pp. 857-864. Venturini, Giulia and Rose, Anna M. and Shah, Amna Z. and Bhattacharya, Shomi S. and Rivolta, Carlo. (2012) CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genetics, 8 (11). e1003040. April 2011Valsesia, Armand and Rimoldi, Donata and Martinet, Danielle and Ibberson, Mark and Benaglio, Paola and Quadroni, Manfredo and Waridel, Patrice and Gaillard, Muriel and Pidoux, Mireille and Rapin, Blandine and Rivolta, Carlo and Xenarios, Ioannis and Simpson, Andrew J. G. and Antonarakis, Stylianos E. and Beckmann, Jacques S. and Jongeneel, C. Victor and Iseli, Christian and Stevenson, Brian J.. (2011) Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma. PloS one, 6 (4). e18369. 2011Benaglio, Paola and McGee, Terri L. and Capelli, Leonardo P. and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2011) Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Human Mutation, 32 (6). E2246-E2258. Chambers, John C. and Zhang, Weihua and Sehmi, Joban and Li, Xinzhong and Wass, Mark N. and Van der Harst, Pim and Holm, Hilma and Sanna, Serena and Kavousi, Maryam and Baumeister, Sebastian E. and Coin, Lachlan J. and Deng, Guohong and Gieger, Christian and Heard-Costa, Nancy L. and Hottenga, Jouke-Jan and Kühnel, Brigitte and Kumar, Vinod and Lagou, Vasiliki and Liang, Liming and Luan, Jian'an and Vidal, Pedro Marques and Mateo Leach, Irene and O'Reilly, Paul F. and Peden, John F. and Rahmioglu, Nilufer and Soininen, Pasi and Speliotes, Elizabeth K. and Yuan, Xin and Thorleifsson, Gudmar and Alizadeh, Behrooz Z. and Atwood, Larry D. and Borecki, Ingrid B. and Brown, Morris J. and Charoen, Pimphen and Cucca, Francesco and Das, Debashish and de Geus, Eco J. C. and Dixon, Anna L. and Döring, Angela and Ehret, Georg and Eyjolfsson, Gudmundur I. and Farrall, Martin and Forouhi, Nita G. and Friedrich, Nele and Goessling, Wolfram and Gudbjartsson, Daniel F. and Harris, Tamara B. and Hartikainen, Anna-Liisa and Heath, Simon and Hirschfield, Gideon M. and Hofman, Albert and Homuth, Georg and Hyppönen, Elina and Janssen, Harry L. A. and Johnson, Toby and Kangas, Antti J. and Kema, Ido P. and Kühn, Jens P. and Lai, Sandra and Lathrop, Mark and Lerch, Markus M. and Li, Yun and Liang, T. Jake and Lin, Jing-Ping and Loos, Ruth J. F. and Martin, Nicholas G. and Moffatt, Miriam F. and Montgomery, Grant W. and Munroe, Patricia B. and Musunuru, Kiran and Nakamura, Yusuke and O'Donnell, Christopher J. and Olafsson, Isleifur and Penninx, Brenda W. and Pouta, Anneli and Prins, Bram P. and Prokopenko, Inga and Puls, Ralf and Ruokonen, Aimo and Savolainen, Markku J. and Schlessinger, David and Schouten, Jeoffrey N. L. and Seedorf, Udo and Sen-Chowdhry, Srijita and Siminovitch, Katherine A. and Smit, Johannes H. and Spector, Timothy D. and Tan, Wenting and Teslovich, Tanya M. and Tukiainen, Taru and Uitterlinden, Andre G. and Van der Klauw, Melanie M. and Vasan, Ramachandran S. and Wallace, Chris and Wallaschofski, Henri and Wichmann, H-Erich and Willemsen, Gonneke and Würtz, Peter and Xu, Chun and Yerges-Armstrong, Laura M. and Alcohol Genome-wide Association Consortium, and Diabetes Genetics Replication, and Meta-analyses Study, and Genetic Investigation of Anthropometric Traits Consortium, and Global Lipids Genetics Consortium, and Genetics of Liver Disease Consortium, and International Consortium for Blood Pressure, and Meta-analyses of Glucose, and Insulin-Related Traits Consortium, and Abecasis, Goncalo R. and Ahmadi, Kourosh R. and Boomsma, Dorret I. and Caulfield, Mark and Cookson, William O. and van Duijn, Cornelia M. and Froguel, Philippe and Matsuda, Koichi and McCarthy, Mark I. and Meisinger, Christa and Mooser, Vincent and Pietiläinen, Kirsi H. and Schumann, Gunter and Snieder, Harold and Sternberg, Michael J. E. and Stolk, Ronald P. and Thomas, Howard C. and Thorsteinsdottir, Unnur and Uda, Manuela and Waeber, Gérard and Wareham, Nicholas J. and Waterworth, Dawn M. and Watkins, Hugh and Whitfield, John B. and Witteman, Jacqueline C. M. and Wolffenbuttel, Bruce H. R. and Fox, Caroline S. and Ala-Korpela, Mika and Stefansson, Kari and Vollenweider, Peter and Völzke, Henry and Schadt, Eric E. and Scott, James and Järvelin, Marjo-Riitta and Elliott, Paul and Kooner, Jaspal S.. (2011) Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Nature Genetics, 43 (11). pp. 1131-1138. Tanackovic, Goranka and Ransijn, Adriana and Ayuso, Carmen and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2011) A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. American Journal of Human Genetics, 88 (5). pp. 643-649. Tanackovic, Goranka and Ransijn, Adriana and Thibault, Philippe and Abou Elela, Sherif and Klinck, Roscoe and Berson, Eliot L. and Chabot, Benoit and Rivolta, Carlo. (2011) PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Human Molecular Genetics, 20 (11). pp. 2116-2130. September 2010Benaglio, Paola and Rivolta, Carlo. (2010) Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region. PloS one, 5 (9). e13071. 2010Langmann, Thomas and Di Gioia, Silvio Alessandro and Rau, Isabella and Stöhr, Heidi and Maksimovic, Nela S. and Corbo, Joseph C. and Renner, Agnes B. and Zrenner, Eberhart and Kumaramanickavel, Govindasamy and Karlstetter, Marcus and Arsenijevic, Yvan and Weber, Bernhard H. F. and Gal, Andreas and Rivolta, Carlo. (2010) Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. American Journal of Human Genetics, 87 (3). pp. 376-381. Lango Allen, Hana and Estrada, Karol and Lettre, Guillaume and Berndt, Sonja I. and Weedon, Michael N. and Rivadeneira, Fernando and Willer, Cristen J. and Jackson, Anne U. and Vedantam, Sailaja and Raychaudhuri, Soumya and Ferreira, Teresa and Wood, Andrew R. and Weyant, Robert J. and Segrè, Ayellet V. and Speliotes, Elizabeth K. and Wheeler, Eleanor and Soranzo, Nicole and Park, Ju-Hyun and Yang, Jian and Gudbjartsson, Daniel and Heard-Costa, Nancy L. and Randall, Joshua C. and Qi, Lu and Vernon Smith, Albert and Mägi, Reedik and Pastinen, Tomi and Liang, Liming and Heid, Iris M. and Luan, Jian'an and Thorleifsson, Gudmar and Winkler, Thomas W. and Goddard, Michael E. and Sin Lo, Ken and Palmer, Cameron and Workalemahu, Tsegaselassie and Aulchenko, Yurii S. and Johansson, Asa and Zillikens, M. Carola and Feitosa, Mary F. and Esko, Tõnu and Johnson, Toby and Ketkar, Shamika and Kraft, Peter and Mangino, Massimo and Prokopenko, Inga and Absher, Devin and Albrecht, Eva and Ernst, Florian and Glazer, Nicole L. and Hayward, Caroline and Hottenga, Jouke-Jan and Jacobs, Kevin B. and Knowles, Joshua W. and Kutalik, Zoltán and Monda, Keri L. and Polasek, Ozren and Preuss, Michael and Rayner, Nigel W. and Robertson, Neil R. and Steinthorsdottir, Valgerdur and Tyrer, Jonathan P. and Voight, Benjamin F. and Wiklund, Fredrik and Xu, Jianfeng and Zhao, Jing Hua and Nyholt, Dale R. and Pellikka, Niina and Perola, Markus and Perry, John R. B. and Surakka, Ida and Tammesoo, Mari-Liis and Altmaier, Elizabeth L. and Amin, Najaf and Aspelund, Thor and Bhangale, Tushar and Boucher, Gabrielle and Chasman, Daniel I. and Chen, Constance and Coin, Lachlan and Cooper, Matthew N. and Dixon, Anna L. and Gibson, Quince and Grundberg, Elin and Hao, Ke and Juhani Junttila, M. and Kaplan, Lee M. and Kettunen, Johannes and König, Inke R. and Kwan, Tony and Lawrence, Robert W. and Levinson, Douglas F. and Lorentzon, Mattias and McKnight, Barbara and Morris, Andrew P. and Müller, Martina and Suh Ngwa, Julius and Purcell, Shaun and Rafelt, Suzanne and Salem, Rany M. and Salvi, Erika and Sanna, Serena and Shi, Jianxin and Sovio, Ulla and Thompson, John R. and Turchin, Michael C. and Vandenput, Liesbeth and Verlaan, Dominique J. and Vitart, Veronique and White, Charles C. and Ziegler, Andreas and Almgren, Peter and Balmforth, Anthony J. and Campbell, Harry and Citterio, Lorena and De Grandi, Alessandro and Dominiczak, Anna and Duan, Jubao and Elliott, Paul and Elosua, Roberto and Eriksson, Johan G. and Freimer, Nelson B. and Geus, Eco J. C. and Glorioso, Nicola and Haiqing, Shen and Hartikainen, Anna-Liisa and Havulinna, Aki S. and Hicks, Andrew A. and Hui, Jennie and Igl, Wilmar and Illig, Thomas and Jula, Antti and Kajantie, Eero and Kilpeläinen, Tuomas O. and Koiranen, Markku and Kolcic, Ivana and Koskinen, Seppo and Kovacs, Peter and Laitinen, Jaana and Liu, Jianjun and Lokki, Marja-Liisa and Marusic, Ana and Maschio, Andrea and Meitinger, Thomas and Mulas, Antonella and Paré, Guillaume and Parker, Alex N. and Peden, John F. and Petersmann, Astrid and Pichler, Irene and Pietiläinen, Kirsi H. and Pouta, Anneli and Ridderstråle, Martin and Rotter, Jerome I. and Sambrook, Jennifer G. and Sanders, Alan R. and Schmidt, Carsten Oliver and Sinisalo, Juha and Smit, Jan H. and Stringham, Heather M. and Bragi Walters, G. and Widen, Elisabeth and Wild, Sarah H. and Willemsen, Gonneke and Zagato, Laura and Zgaga, Lina and Zitting, Paavo and Alavere, Helene and Farrall, Martin and McArdle, Wendy L. and Nelis, Mari and Peters, Marjolein J. and Ripatti, Samuli and van Meurs, Joyce B. J. and Aben, Katja K. and Ardlie, Kristin G. and Beckmann, Jacques S. and Beilby, John P. and Bergman, Richard N. and Bergmann, Sven and Collins, Francis S. and Cusi, Daniele and den Heijer, Martin and Eiriksdottir, Gudny and Gejman, Pablo V. and Hall, Alistair S. and Hamsten, Anders and Huikuri, Heikki V. and Iribarren, Carlos and Kähönen, Mika and Kaprio, Jaakko and Kathiresan, Sekar and Kiemeney, Lambertus and Kocher, Thomas and Launer, Lenore J. and Lehtimäki, Terho and Melander, Olle and Mosley, Tom H. and Musk, Arthur W. and Nieminen, Markku S. and O'Donnell, Christopher J. and Ohlsson, Claes and Oostra, Ben and Palmer, Lyle J. and Raitakari, Olli and Ridker, Paul M. and Rioux, John D. and Rissanen, Aila and Rivolta, Carlo and Schunkert, Heribert and Shuldiner, Alan R. and Siscovick, David S. and Stumvoll, Michael and Tönjes, Anke and Tuomilehto, Jaakko and van Ommen, Gert-Jan and Viikari, Jorma and Heath, Andrew C. and Martin, Nicholas G. and Montgomery, Grant W. and Province, Michael A. and Kayser, Manfred and Arnold, Alice M. and Atwood, Larry D. and Boerwinkle, Eric and Chanock, Stephen J. and Deloukas, Panos and Gieger, Christian and Grönberg, Henrik and Hall, Per and Hattersley, Andrew T. and Hengstenberg, Christian and Hoffman, Wolfgang and Lathrop, G. Mark and Salomaa, Veikko and Schreiber, Stefan and Uda, Manuela and Waterworth, Dawn and Wright, Alan F. and Assimes, Themistocles L. and Barroso, Inês and Hofman, Albert and Mohlke, Karen L. and Boomsma, Dorret I. and Caulfield, Mark J. and Cupples, L. Adrienne and Erdmann, Jeanette and Fox, Caroline S. and Gudnason, Vilmundur and Gyllensten, Ulf and Harris, Tamara B. and Hayes, Richard B. and Jarvelin, Marjo-Riitta and Mooser, Vincent and Munroe, Patricia B. and Ouwehand, Willem H. and Penninx, Brenda W. and Pramstaller, Peter P. and Quertermous, Thomas and Rudan, Igor and Samani, Nilesh J. and Spector, Timothy D. and Völzke, Henry and Watkins, Hugh and Wilson, James F. and Groop, Leif C. and Haritunians, Talin and Hu, Frank B. and Kaplan, Robert C. and Metspalu, Andres and North, Kari E. and Schlessinger, David and Wareham, Nicholas J. and Hunter, David J. and O'Connell, Jeffrey R. and Strachan, David P. and Wichmann, H-Erich and Borecki, Ingrid B. and van Duijn, Cornelia M. and Schadt, Eric E. and Thorsteinsdottir, Unnur and Peltonen, Leena and Uitterlinden, André G. and Visscher, Peter M. and Chatterjee, Nilanjan and Loos, Ruth J. F. and Boehnke, Michael and McCarthy, Mark I. and Ingelsson, Erik and Lindgren, Cecilia M. and Abecasis, Gonçalo R. and Stefansson, Kari and Frayling, Timothy M. and Hirschhorn, Joel N.. (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467 (7317). pp. 832-838. 2009Butticaz, Christophe and Werge, Thomas and Beckmann, Jacques S. and Cuénod, Michel and Do, Kim Q. and Rivolta, Carlo. (2009) Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia. Psychiatric Genetics, 19 (4). pp. 201-208. Rio Frio, Thomas and McGee, Terri L. and Wade, Nicholas M. and Iseli, Christian and Beckmann, Jacques S. and Berson, Eliot L. and Rivolta, Carlo. (2009) A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Human mutation, 30 (9). pp. 1340-1347. Rio Frio, Thomas and Panek, Sylwia and Iseli, Christian and Di Gioia, Silvio Alessandro and Kumar, Arun and Gal, Andreas and Rivolta, Carlo. (2009) Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa. Molecular vision, 15. pp. 2627-2633. Tanackovic, Goranka and Rivolta, Carlo. (2009) PRPF31 alternative splicing and expression in human retina. Ophthalmic genetics, 30 (2). pp. 76-83. November 2008Fukada, Toshiyuki and Civic, Natacha and Furuichi, Tatsuya and Shimoda, Shinji and Mishima, Kenji and Higashiyama, Hiroyuki and Idaira, Yayoi and Asada, Yoshinobu and Kitamura, Hiroshi and Yamasaki, Satoru and Hojyo, Shintaro and Nakayama, Manabu and Ohara, Osamu and Koseki, Haruhiko and Dos Santos, Heloisa G. and Bonafe, Luisa and Ha-Vinh, Russia and Zankl, Andreas and Unger, Sheila and Kraenzlin, Marius E. and Beckmann, Jacques S. and Saito, Ichiro and Rivolta, Carlo and Ikegawa, Shiro and Superti-Furga, Andrea and Hirano, Toshio. (2008) The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PloS one, 3 (11). e3642. 2008Rio Frio, Thomas and Civic, Natacha and Ransijn, Adriana and Beckmann, Jacques S. and Rivolta, Carlo. (2008) Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations. Human Molecular Genetics, 17 (20). pp. 3154-3165. Rio Frio, Thomas and Wade, Nicholas M. and Ransijn, Adriana and Berson, Eliot L. and Beckmann, Jacques S. and Rivolta, Carlo. (2008) Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. Journal of Clinical Investigation, 118 (4). pp. 1519-1531. 2006Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2006) Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Molecular vision, 12. pp. 1511-1515. Rivolta, Carlo and McGee, Terri L. and Rio Frio, Thomas and Jensen, Roderick V. and Berson, Eliot L. and Dryja, Thaddeus P.. (2006) Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Human mutation, 27 (7). pp. 644-653. 2004Seyedahmadi, Babak Jian and Rivolta, Carlo and Keene, Julia A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2004) Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Experimental Eye Research, 79 (2). pp. 167-173. 2003Kobayashi, K. and Ehrlich, S. D. and Albertini, A. and Amati, G. and Andersen, K. K. and Arnaud, M. and Asai, K. and Ashikaga, S. and Aymerich, S. and Bessieres, P. and Boland, F. and Brignell, S. C. and Bron, S. and Bunai, K. and Chapuis, J. and Christiansen, L. C. and Danchin, A. and Débarbouille, M. and Dervyn, E. and Deuerling, E. and Devine, K. and Devine, S. K. and Dreesen, O. and Errington, J. and Fillinger, S. and Foster, S. J. and Fujita, Y. and Galizzi, A. and Gardan, R. and Eschevins, C. and Fukushima, T. and Haga, K. and Harwood, C. R. and Hecker, M. and Hosoya, D. and Hullo, M. F. and Kakeshita, H. and Karamata, D. and Kasahara, Y. and Kawamura, F. and Koga, K. and Koski, P. and Kuwana, R. and Imamura, D. and Ishimaru, M. and Ishikawa, S. and Ishio, I. and Le Coq, D. and Masson, A. and Mauël, C. and Meima, R. and Mellado, R. P. and Moir, A. and Moriya, S. and Nagakawa, E. and Nanamiya, H. and Nakai, S. and Nygaard, P. and Ogura, M. and Ohanan, T. and O'Reilly, M. and O'Rourke, M. and Pragai, Z. and Pooley, H. M. and Rapoport, G. and Rawlins, J. P. and Rivas, L. A. and Rivolta, C. and Sadaie, A. and Sadaie, Y. and Sarvas, M. and Sato, T. and Saxild, H. H. and Scanlan, E. and Schumann, W. and Seegers, J. F. M. L. and Sekiguchi, J. and Sekowska, A. and Séror, S. J. and Simon, M. and Stragier, P. and Studer, R. and Takamatsu, H. and Tanaka, T. and Takeuchi, M. and Thomaides, H. B. and Vagner, V. and van Dijl, J. M. and Watabe, K. and Wipat, A. and Yamamoto, H. and Yamamoto, M. and Yamamoto, Y. and Yamane, K. and Yata, K. and Yoshida, K. and Yoshikawa, H. and Zuber, U. and Ogasawara, N.. (2003) Essential Bacillus subtilis genes. Proceedings of the National Academy of Sciences of the United States of America, 100 (8). pp. 4678-4683. Rivolta, Carlo and Ayyagari, Radha and Sieving, Paul A. and Berson, Eliot L. and Dryja, Taddeus P.. (2003) Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Molecular vision, 9. pp. 49-51. November 2002Wang, Xuejiao and Xu, Siqun and Rivolta, Carlo and Li, Lili Y. and Peng, Guang-Hua and Swain, Prabodh K. and Sung, Ching-Hwa and Swaroop, Anand and Berson, Eliot L. and Dryja, Thaddeus P. and Chen, Shiming. (2002) Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function. Journal of Biological Chemistry, 277 (45). pp. 43288-43300. 2002Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2002) Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Archives of ophthalmology, 120 (11). pp. 1566-1571. Rivolta, Carlo and Sharon, Dror and DeAngelis, Margaret M. and Dryja, Thaddeus P.. (2002) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Human Molecular Genetics, 11 (10). pp. 1219-1227. 2001Rivolta, Carlo and Berson, Eliot L. and Dryja, Thaddeus P.. (2001) Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX. Human Mutation, 18 (6). pp. 488-498. Rivolta, Carlo and Peck, Naomi E. and Fulton, Anne B. and Fishman, Gerald A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2001) Novel frameshift mutations in CRX associated with Leber congenital amaurosis. Human mutation, 18 (6). pp. 550-551. 2000Rivolta, Carlo and Sweklo, Elizabeth A. and Berson, Eliot L. and Dryja, Thaddeus P.. (2000) Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. American Journal of Human Genetics, 66 (6). pp. 1975-1978. 1999Bengtsson, Jenny and Rivolta, Carlo and Hederstedt, Lars and Karamata, Dimitri. (1999) Bacillus subtilis contains two small c-type cytochromes with homologous heme domains but different types of membrane anchors. Journal of Biological Chemistry, 274 (37). pp. 26179-26184. Rivolta, Carlo and Pagni, Marco. (1999) Genetic and physical maps of the Bacillus subtilis chromosome. Genetics, 151 (4). pp. 1239-1244. 1998Reizer, Jonathan and Hoischen, Christian and Titgemeyer, Friedrich and Rivolta, Carlo and Rabus, Ralf and Stülke, Jörg and Karamata, Dimitri and Saier Jr, Milton H. and Hillen, Wolfgang. (1998) A novel protein kinase that controls carbon catabolite repression in bacteria. Molecular microbiology, 27 (6). pp. 1157-1169. Rivolta, Carlo and Soldo, Blazenka and Lazarevic, Vladimir and Joris, Bernard and Mauël, Catherine and Karamata, Dimitri. (1998) A 35.7 kb DNA fragment from the Bacillus subtilis chromosome containing a putative 12.3 kb operon involved in hexuronate catabolism and a perfectly symmetrical hypothetical catabolite-responsive element. Microbiology, 144 (4). pp. 877-884. Robinson, Carl and Rivolta, Carlo and Karamata, Dimitri and Moir, Anne. (1998) The product of the yvoC (gerF) gene of Bacillus subtilis is required for spore germination. 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