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Butler-Laporte, Guillaume and Povysil, Gundula and Kosmicki, Jack A. and Cirulli, Elizabeth T. and Drivas, Theodore and Furini, Simone and Saad, Chadi and Schmidt, Axel and Olszewski, Pawel and Korotko, Urszula and Quinodoz, Mathieu and Çelik, Elifnaz and Kundu, Kousik and Walter, Klaudia and Jung, Junghyun and Stockwell, Amy D. and Sloofman, Laura G. and Jordan, Daniel M. and Thompson, Ryan C. and Del Valle, Diane and Simons, Nicole and Cheng, Esther and Sebra, Robert and Schadt, Eric E. and Kim-Schulze, Seunghee and Gnjatic, Sacha and Merad, Miriam and Buxbaum, Joseph D. and Beckmann, Noam D. and Charney, Alexander W. and Przychodzen, Bartlomiej and Chang, Timothy and Pottinger, Tess D. and Shang, Ning and Brand, Fabian and Fava, Francesca and Mari, Francesca and Chwialkowska, Karolina and Niemira, Magdalena and Pula, Szymon and Baillie, J. Kenneth and Stuckey, Alex and Salas, Antonio and Bello, Xabier and Pardo-Seco, Jacobo and Gómez-Carballa, Alberto and Rivero-Calle, Irene and Martinón-Torres, Federico and Ganna, Andrea and Karczewski, Konrad J. and Veerapen, Kumar and Bourgey, Mathieu and Bourque, Guillaume and Eveleigh, Robert Jm and Forgetta, Vincenzo and Morrison, David and Langlais, David and Lathrop, Mark and Mooser, Vincent and Nakanishi, Tomoko and Frithiof, Robert and Hultström, Michael and Lipcsey, Miklos and Marincevic-Zuniga, Yanara and Nordlund, Jessica and Schiabor Barrett, Kelly M. and Lee, William and Bolze, Alexandre and White, Simon and Riffle, Stephen and Tanudjaja, Francisco and Sandoval, Efren and Neveux, Iva and Dabe, Shaun and Casadei, Nicolas and Motameny, Susanne and Alaamery, Manal and Massadeh, Salam and Aljawini, Nora and Almutairi, Mansour S. and Arabi, Yaseen M. and Alqahtani, Saleh A. and Al Harthi, Fawz S. and Almutairi, Amal and Alqubaishi, Fatima and Alotaibi, Sarah and Binowayn, Albandari and Alsolm, Ebtehal A. and El Bardisy, Hadeel and Fawzy, Mohammad and Cai, Fang and Soranzo, Nicole and Butterworth, Adam and DeCOI Host Genetics Group, and GEN-Covid Multicenter Study, and Mount Sinai Clinical Intelligence Center, and GEN-Covid consortium, and GenOmicc Consortium, and Regeneron Genetics Center, and Geschwind, Daniel H. and Arteaga, Stephanie and Stephens, Alexis and Butte, Manish J. and Boutros, Paul C. and Yamaguchi, Takafumi N. and Tao, Shu and Eng, Stefan and Sanders, Timothy and Tung, Paul J. and Broudy, Michael E. and Pan, Yu and Gonzalez, Alfredo and Chavan, Nikhil and Johnson, Ruth and Pasaniuc, Bogdan and Yaspan, Brian and Smieszek, Sandra and Rivolta, Carlo and Bibert, Stephanie and Bochud, Pierre-Yves and Dabrowski, Maciej and Zawadzki, Pawel and Sypniewski, Mateusz and Kaja, Elżbieta and Chariyavilaskul, Pajaree and Nilaratanakul, Voraphoj and Hirankarn, Nattiya and Shotelersuk, Vorasuk and Pongpanich, Monnat and Phokaew, Chureerat and Chetruengchai, Wanna and Tokunaga, Katsushi and Sugiyama, Masaya and Kawai, Yosuke and Hasegawa, Takanori and Naito, Tatsuhiko and Namkoong, Ho and Edahiro, Ryuya and Kimura, Akinori and Ogawa, Seishi and Kanai, Takanori and Fukunaga, Koichi and Okada, Yukinori and Imoto, Seiya and Miyano, Satoru and Mangul, Serghei and Abedalthagafi, Malak S. and Zeberg, Hugo and Grzymski, Joseph J. and Washington, Nicole L. and Ossowski, Stephan and Ludwig, Kerstin U. and Schulte, Eva C. and Riess, Olaf and Moniuszko, Marcin and Kwasniewski, Miroslaw and Mbarek, Hamdi and Ismail, Said I. and Verma, Anurag and Goldstein, David B. and Kiryluk, Krzysztof and Renieri, Alessandra and Ferreira, Manuel A. R. and Richards, J. Brent. (2022) Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS Genetics, 18 (11). e1010367.

Ansar, Muhammad and Javed, Samra and Baig, Hafiz Muhammad Azhar and Quinodoz, Mathieu and Ullah, Mukhtar and Han, Ji Hoon and Rahim, Muhammad Usama and Kausar, Humera and Calzetti, Giacomo and Rivolta, Carlo. (2022) A new nonsense mutation in; HMX1; in two siblings with oculoauricular syndrome. Ophthalmic Genetics, 43 (5). pp. 720-723.

Santos, Cristina and Almeida, Andreia and Pinto, Rita and Kaminska, Karolina and Peter, Virginie G. and Sousa, Ana-Berta and Rivolta, Carlo and Coutinho-Santos, Luísa. (2022) Anisometropia and asymmetric ABCA4-related cone-rod dystrophy. Ophthalmic genetics, 43 (4). pp. 576-580.

Schroeder, Marion and Peter, Virginie G. and Gränse, Lotta and Andréasson, Sten and Rivolta, Carlo and Kjellström, Ulrika. (2022) A novel phenotype associated with the R162W variant in the KCNJ13 gene. Ophthalmic genetics, 43 (4). pp. 500-507.

Nardou, Katya and Nicolas, Michael and Kuttler, Fabien and Cisarova, Katarina and Celik, Elifnaz and Quinodoz, Mathieu and Riggi, Nicolo and Michielin, Olivier and Rivolta, Carlo and Turcatti, Gerardo and Moulin, Alexandre Pierre. (2022) Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening. Cancers, 14 (6). p. 1575.

Quinodoz, Mathieu and Peter, Virginie G. and Cisarova, Katarina and Royer-Bertrand, Beryl and Stenson, Peter D. and Cooper, David N. and Unger, Sheila and Superti-Furga, Andrea and 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), 109 (3). pp. 457-470.

Han, Ji Hoon and Ryan, Gavin and Guy, Alyson and Liu, Lu and Quinodoz, Mathieu and Helbling, Ingrid and Lai-Cheong, Joey E. and Genomics England Research Consortium, and Barwell, Julian and Folcher, Marc and McGrath, John A. and Moss, Celia and Rivolta, Carlo. (2022) Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder. Human Molecular Genetics, 31 (12). pp. 1970-1978.

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.

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.

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.

Allou, 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.

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.

Gonçalves, André Brás and Hasselbalch, Sarah Kirstine and Joensen, Beinta Biskopstø and Patzke, Sebastian and Martens, Pernille and Ohlsen, Signe Krogh and Quinodoz, Mathieu and Nikopoulos, Konstantinos and Suleiman, Reem and Damsø Jeppesen, Magnus Per and Weiss, Catja and Christensen, Søren Tvorup and Rivolta, Carlo and Andersen, Jens S. and Farinelli, Pietro and Pedersen, Lotte Bang. (2021) CEP78 functions downstream of CEP350 to control biogenesis of primary cilia by negatively regulating CP110 levels. eLife, 10. e63731.

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.

Lebon, Sébastien and Quinodoz, Mathieu and Peter, Virginie G. and Gengler, Carole and Blanchard, Gaëlle and Cina, Viviane and Campos-Xavier, Belinda and Rivolta, Carlo and Superti-Furga, Andrea. (2021) Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants. Genes, 12 (9). p. 1397.

Bibert, Stéphanie and Guex, Nicolas and Lourenco, Joao and Brahier, Thomas and Papadimitriou-Olivgeris, Matthaios and Damonti, Lauro and Manuel, Oriol and Liechti, Robin and Götz, Lou and Tschopp, Jonathan and Quinodoz, Mathieu and Vollenweider, Peter and Pagani, Jean-Luc and Oddo, Mauro and Hügli, Olivier and Lamoth, Frédéric and Erard, Véronique and Voide, Cathy and Delorenzi, Mauro and Rufer, Nathalie and Candotti, Fabio and Rivolta, Carlo and Boillat-Blanco, Noémie and Bochud, Pierre-Yves and RegCovid Study Group, . (2021) Transcriptomic Signature Differences Between SARS-CoV-2 and Influenza Virus Infected Patients. Frontiers in Immunology, 12. p. 666163.

Ruberto, Francesco Paolo and Balzano, Sara and Namburi, Prasanthi and Kimchi, Adva and Pescini-Gobert, Rosanna and Obolensky, Alexey and Banin, Eyal and Ben-Yosef, Tamar and Sharon, Dror and Rivolta, Carlo. (2021) Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression. Molecular Vision, 27. pp. 107-116.

Perea-Romero, I. and Blanco-Kelly, F. and Sanchez-Navarro, I. and Lorda-Sanchez, I. and Tahsin-Swafiri, S. and Avila-Fernandez, A. and Martin-Merida, I. and Trujillo-Tiebas, M. J. and Lopez-Rodriguez, R. and Rodriguez de Alba, M. and Iancu, I. F. and Romero, R. and Quinodoz, M. and Hakonarson, H. and Garcia-Sandova, Blanca and Minguez, P. and Corton, M. and Rivolta, C. and Ayuso, C.. (2021) NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. Human genetics, 140 (12). pp. 1665-1678.

COVID-19 Host Genetics Initiative, . (2021) Mapping the human genetic architecture of COVID-19. Nature, 600 (7889). pp. 472-477.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Ansar, 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.

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.

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.

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.

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.

Bibert, 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.

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.

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.

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.

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.

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.

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.

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.

Fregni, 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.

Quinodoz, 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.

Bedoni, 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.

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.

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.

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.

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. (2016) NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nature Genetics, 48 (7). pp. 777-784.

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.

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.

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.

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.

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.

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.

Royer-Bertrand, Beryl and Castillo-Taucher, Silvia and Moreno-Salinas, Rodrigo and Cho, Tae-Joon and Chae, Jong-Hee and Choi, Murim and Kim, Ok-Hwa and Dikoglu, Esra and Campos-Xavier, Belinda and Girardi, Enrico and Superti-Furga, Giulio and Bonafé, Luisa and Rivolta, Carlo and Unger, Sheila and Superti-Furga, Andrea. (2015) Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia. Scientific Reports, 5. p. 17154.

Winkler, Thomas W. and Justice, Anne E. and Graff, Mariaelisa and Barata, Llilda and Feitosa, Mary F. and Chu, Su and Czajkowski, Jacek and Esko, Tõnu and Fall, Tove and Kilpeläinen, Tuomas O. and Lu, Yingchang and Mägi, Reedik and Mihailov, Evelin and Pers, Tune H. and Rüeger, Sina and Teumer, Alexander and Ehret, Georg B. and Ferreira, Teresa and Heard-Costa, Nancy L. and Karjalainen, Juha and Lagou, Vasiliki and Mahajan, Anubha and Neinast, Michael D. and Prokopenko, Inga and Simino, Jeannette and Teslovich, Tanya M. and Jansen, Rick and Westra, Harm-Jan and White, Charles C. and Absher, Devin and Ahluwalia, Tarunveer S. and Ahmad, Shafqat and Albrecht, Eva and Alves, Alexessander Couto and Bragg-Gresham, Jennifer L. and de Craen, Anton J. M. and Bis, Joshua C. and Bonnefond, Amélie and Boucher, Gabrielle and Cadby, Gemma and Cheng, Yu-Ching and Chiang, Charleston W. K. and Delgado, Graciela and Demirkan, Ayse and Dueker, Nicole and Eklund, Niina and Eiriksdottir, Gudny and Eriksson, Joel and Feenstra, Bjarke and Fischer, Krista and Frau, Francesca and Galesloot, Tessel E. and Geller, Frank and Goel, Anuj and Gorski, Mathias and Grammer, Tanja B. and Gustafsson, Stefan and Haitjema, Saskia and Hottenga, Jouke-Jan and Huffman, Jennifer E. and Jackson, Anne U. and Jacobs, Kevin B. and Johansson, Åsa and Kaakinen, Marika and Kleber, Marcus E. and Lahti, Jari and Mateo Leach, Irene and Lehne, Benjamin and Liu, Youfang and Lo, Ken Sin and Lorentzon, Mattias and Luan, Jian'an and Madden, Pamela A. F. and Mangino, Massimo and McKnight, Barbara and Medina-Gomez, Carolina and Monda, Keri L. and Montasser, May E. and Müller, Gabriele and Müller-Nurasyid, Martina and Nolte, Ilja M. and Panoutsopoulou, Kalliope and Pascoe, Laura and Paternoster, Lavinia and Rayner, Nigel W. and Renström, Frida and Rizzi, Federica and Rose, Lynda M. and Ryan, Kathy A. and Salo, Perttu and Sanna, Serena and Scharnagl, Hubert and Shi, Jianxin and Smith, Albert Vernon and Southam, Lorraine and Stančáková, Alena and Steinthorsdottir, Valgerdur and Strawbridge, Rona J. and Sung, Yun Ju and Tachmazidou, Ioanna and Tanaka, Toshiko and Thorleifsson, Gudmar and Trompet, Stella and Pervjakova, Natalia and Tyrer, Jonathan P. and Vandenput, Liesbeth and van der Laan, Sander W. and van der Velde, Nathalie and van Setten, Jessica and van Vliet-Ostaptchouk, Jana V. and Verweij, Niek and Vlachopoulou, Efthymia and Waite, Lindsay L. and Wang, Sophie R. and Wang, Zhaoming and Wild, Sarah H. and Willenborg, Christina and Wilson, James F. and Wong, Andrew and Yang, Jian and Yengo, Loïc and Yerges-Armstrong, Laura M. and Yu, Lei and Zhang, Weihua and Zhao, Jing Hua and Andersson, Ehm A. and Bakker, Stephan J. L. and Baldassarre, Damiano and Banasik, Karina and Barcella, Matteo and Barlassina, Cristina and Bellis, Claire and Benaglio, Paola and Blangero, John and Blüher, Matthias and Bonnet, Fabrice and Bonnycastle, Lori L. and Boyd, Heather A. and Bruinenberg, Marcel and Buchman, Aron S. and Campbell, Harry and Chen, Yii-Der Ida and Chines, Peter S. and Claudi-Boehm, Simone and Cole, John and Collins, Francis S. and de Geus, Eco J. C. and de Groot, Lisette C. P. G. M. and Dimitriou, Maria and Duan, Jubao and Enroth, Stefan and Eury, Elodie and Farmaki, Aliki-Eleni and Forouhi, Nita G. and Friedrich, Nele and Gejman, Pablo V. and Gigante, Bruna and Glorioso, Nicola and Go, Alan S. and Gottesman, Omri and Gräßler, Jürgen and Grallert, Harald and Grarup, Niels and Gu, Yu-Mei and Broer, Linda and Ham, Annelies C. and Hansen, Torben and Harris, Tamara B. and Hartman, Catharina A. and Hassinen, Maija and Hastie, Nicholas and Hattersley, Andrew T. and Heath, Andrew C. and Henders, Anjali K. and Hernandez, Dena and Hillege, Hans and Holmen, Oddgeir and Hovingh, Kees G. and Hui, Jennie and Husemoen, Lise L. and Hutri-Kähönen, Nina and Hysi, Pirro G. and Illig, Thomas and De Jager, Philip L. and Jalilzadeh, Shapour and Jørgensen, Torben and Jukema, J. Wouter and Juonala, Markus and Kanoni, Stavroula and Karaleftheri, Maria and Khaw, Kay Tee and Kinnunen, Leena and Kittner, Steven J. and Koenig, Wolfgang and Kolcic, Ivana and Kovacs, Peter and Krarup, Nikolaj T. and Kratzer, Wolfgang and Krüger, Janine and Kuh, Diana and Kumari, Meena and Kyriakou, Theodosios and Langenberg, Claudia and Lannfelt, Lars and Lanzani, Chiara and Lotay, Vaneet and Launer, Lenore J. and Leander, Karin and Lindström, Jaana and Linneberg, Allan and Liu, Yan-Ping and Lobbens, Stéphane and Luben, Robert and Lyssenko, Valeriya and Männistö, Satu and Magnusson, Patrik K. and McArdle, Wendy L. and Menni, Cristina and Merger, Sigrun and Milani, Lili and Montgomery, Grant W. and Morris, Andrew P. and Narisu, Narisu and Nelis, Mari and Ong, Ken K. and Palotie, Aarno and Pérusse, Louis and Pichler, Irene and Pilia, Maria G. and Pouta, Anneli and Rheinberger, Myriam and Ribel-Madsen, Rasmus and Richards, Marcus and Rice, Kenneth M. and Rice, Treva K. and Rivolta, Carlo and Salomaa, Veikko and Sanders, Alan R. and Sarzynski, Mark A. and Scholtens, Salome and Scott, Robert A. and Scott, William R. and Sebert, Sylvain and Sengupta, Sebanti and Sennblad, Bengt and Seufferlein, Thomas and Silveira, Angela and Slagboom, P. Eline and Smit, Jan H. and Sparsø, Thomas H. and Stirrups, Kathleen and Stolk, Ronald P. and Stringham, Heather M. and Swertz, Morris A. and Swift, Amy J. and Syvänen, Ann-Christine and Tan, Sian-Tsung and Thorand, Barbara and Tönjes, Anke and Tremblay, Angelo and Tsafantakis, Emmanouil and van der Most, Peter J. and Völker, Uwe and Vohl, Marie-Claude and Vonk, Judith M. and Waldenberger, Melanie and Walker, Ryan W. and Wennauer, Roman and Widén, Elisabeth and Willemsen, Gonneke and Wilsgaard, Tom and Wright, Alan F. and Zillikens, M. Carola and van Dijk, Suzanne C. and van Schoor, Natasja M. and Asselbergs, Folkert W. and de Bakker, Paul I. W. and Beckmann, Jacques S. and Beilby, John and Bennett, David A. and Bergman, Richard N. and Bergmann, Sven and Böger, Carsten A. and Boehm, Bernhard O. and Boerwinkle, Eric and Boomsma, Dorret I. and Bornstein, Stefan R. and Bottinger, Erwin P. and Bouchard, Claude and Chambers, John C. and Chanock, Stephen J. and Chasman, Daniel I. and Cucca, Francesco and Cusi, Daniele and Dedoussis, George and Erdmann, Jeanette and Eriksson, Johan G. and Evans, Denis A. and de Faire, Ulf and Farrall, Martin and Ferrucci, Luigi and Ford, Ian and Franke, Lude and Franks, Paul W. and Froguel, Philippe and Gansevoort, Ron T. and Gieger, Christian and Grönberg, Henrik and Gudnason, Vilmundur and Gyllensten, Ulf and Hall, Per and Hamsten, Anders and van der Harst, Pim and Hayward, Caroline and Heliövaara, Markku and Hengstenberg, Christian and Hicks, Andrew A. and Hingorani, Aroon and Hofman, Albert and Hu, Frank and Huikuri, Heikki V. and Hveem, Kristian and James, Alan L. and Jordan, Joanne M. and Jula, Antti and Kähönen, Mika and Kajantie, Eero and Kathiresan, Sekar and Kiemeney, Lambertus A. L. M. and Kivimaki, Mika and Knekt, Paul B. and Koistinen, Heikki A. and Kooner, Jaspal S. and Koskinen, Seppo and Kuusisto, Johanna and Maerz, Winfried and Martin, Nicholas G. and Laakso, Markku and Lakka, Timo A. and Lehtimäki, Terho and Lettre, Guillaume and Levinson, Douglas F. and Lind, Lars and Lokki, Marja-Liisa and Mäntyselkä, Pekka and Melbye, Mads and Metspalu, Andres and Mitchell, Braxton D. and Moll, Frans L. and Murray, Jeffrey C. and Musk, Arthur W. and Nieminen, Markku S. and Njølstad, Inger and Ohlsson, Claes and Oldehinkel, Albertine J. and Oostra, Ben A. and Palmer, Lyle J. and Pankow, James S. and Pasterkamp, Gerard and Pedersen, Nancy L. and Pedersen, Oluf and Penninx, Brenda W. and Perola, Markus and Peters, Annette and Polašek, Ozren and Pramstaller, Peter P. and Psaty, Bruce M. and Qi, Lu and Quertermous, Thomas and Raitakari, Olli T. and Rankinen, Tuomo and Rauramaa, Rainer and Ridker, Paul M. and Rioux, John D. and Rivadeneira, Fernando and Rotter, Jerome I. and Rudan, Igor and den Ruijter, Hester M. and Saltevo, Juha and Sattar, Naveed and Schunkert, Heribert and Schwarz, Peter E. H. and Shuldiner, Alan R. and Sinisalo, Juha and Snieder, Harold and Sørensen, Thorkild I. A. and Spector, Tim D. and Staessen, Jan A. and Stefania, Bandinelli and Thorsteinsdottir, Unnur and Stumvoll, Michael and Tardif, Jean-Claude and Tremoli, Elena and Tuomilehto, Jaakko and Uitterlinden, André G. and Uusitupa, Matti and Verbeek, André L. M. and Vermeulen, Sita H. and Viikari, Jorma S. and Vitart, Veronique and Völzke, Henry and Vollenweider, Peter and Waeber, Gérard and Walker, Mark and Wallaschofski, Henri and Wareham, Nicholas J. and Watkins, Hugh and Zeggini, Eleftheria and Charge Consortium, and Diagram Consortium, and Glgc Consortium, and Global-BPGen Consortium, and Icbp Consortium, and Magic Consortium, and Chakravarti, Aravinda and Clegg, Deborah J. and Cupples, L. Adrienne and Gordon-Larsen, Penny and Jaquish, Cashell E. and Rao, D. C. and Abecasis, Goncalo R. and Assimes, Themistocles L. and Barroso, Inês and Berndt, Sonja I. and Boehnke, Michael and Deloukas, Panos and Fox, Caroline S. and Groop, Leif C. and Hunter, David J. and Ingelsson, Erik and Kaplan, Robert C. and McCarthy, Mark I. and Mohlke, Karen L. and O'Connell, Jeffrey R. and Schlessinger, David and Strachan, David P. and Stefansson, Kari and van Duijn, Cornelia M. and Hirschhorn, Joel N. and Lindgren, Cecilia M. and Heid, Iris M. and North, Kari E. and Borecki, Ingrid B. and Kutalik, Zoltán and Loos, Ruth J. F.. (2015) The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. PLoS Genetics, 11 (10). e1005378.

Nikopoulos, Konstantinos and Avila-Fernandez, Almudena and Corton, Marta and Lopez-Molina, Maria Isabel and Perez-Carro, Raquel and Bontadelli, Lara and Di Gioia, Silvio Alessandro and Zurita, Olga and Garcia-Sandoval, Blanca and Rivolta, Carlo and Ayuso, Carmen. (2015) Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy. Scientific Reports, 5. p. 13902.

Safka Brozkova, Dana and Deconinck, Tine and Griffin, Laurie Beth and Ferbert, Andreas and Haberlova, Jana and Mazanec, Radim and Lassuthova, Petra and Roth, Christian and Pilunthanakul, Thanita and Rautenstrauss, Bernd and Janecke, Andreas R. and Zavadakova, Petra and Chrast, Roman and Rivolta, Carlo and Zuchner, Stephan and Antonellis, Anthony and Beg, Asim A. and De Jonghe, Peter and Senderek, Jan and Seeman, Pavel and Baets, Jonathan. (2015) Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies. Brain, 138 (8). pp. 2161-2172.

Di Gioia, Silvio Alessandro and Bedoni, Nicola and von Scheven-Gête, Annette and Vanoni, Federica and Superti-Furga, Andrea and Hofer, Michaël and Rivolta, Carlo. (2015) Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Scientific Reports, 5. p. 10200.

Saqib, Muhammad Arif Nadeem and Nikopoulos, Konstantinos and Ullah, Ehsan and Sher Khan, Falak and Iqbal, Jamila and Bibi, Rabia and Jarral, Afeefa and Sajid, Sundus and Nishiguchi, Koji M. and Venturini, Giulia and Ansar, Muhammad and Rivolta, Carlo. (2015) Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. Scientific Reports, 5. 09965.

Zhao, Min and Andrieu-Soler, Charlotte and Kowalczuk, Laura and Paz Cortés, María and Berdugo, Marianne and Dernigoghossian, Marilyn and Halili, Francisco and Jeanny, Jean-Claude and Goldenberg, Brigitte and Savoldelli, Michèle and El Sanharawi, Mohamed and Naud, Marie-Christine and van Ijcken, Wilfred and Pescini-Gobert, Rosanna and Martinet, Danielle and Maass, Alejandro and Wijnholds, Jan and Crisanti, Patricia and Rivolta, Carlo and Behar-Cohen, Francine. (2015) A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia. Journal of Neuroscience, 35 (15). pp. 6093-6106.

Di Gioia, Silvio Alessandro and Farinelli, Pietro and Letteboer, Stef J. F. and Arsenijevic, Yvan and Sharon, Dror and Roepman, Ronald and Rivolta, Carlo. (2015) Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network. Human Molecular Genetics, 24 (12). pp. 3359-3371.

Bertelli, Claire and Aeby, Sébastien and Chassot, Bérénice and Clulow, James and Hilfiker, Olivier and Rappo, Samuel and Ritzmann, Sébastien and Schumacher, Paolo and Terrettaz, Céline and Benaglio, Paola and Falquet, Laurent and Farinelli, Laurent and Gharib, Walid H. and Goesmann, Alexander and Harshman, Keith and Linke, Burkhard and Miyazaki, Ryo and Rivolta, Carlo and Robinson-Rechavi, Marc and van der Meer, Jan Roelof and Greub, Gilbert. (2015) Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights. Frontiers in Microbiology, 6. p. 101.

Venturini, Giulia and Koskiniemi-Kuendig, Hanna and Harper, Shyana and Berson, Eliot L. and Rivolta, Carlo. (2015) Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry. Genetics in medicine, 17 (4). pp. 285-290.

Miyazaki, Ryo and Bertelli, Claire and Benaglio, Paola and Canton, Jonas and De Coi, Nicoló and Gharib, Walid H. and Gjoksi, Bebeka and Goesmann, Alexander and Greub, Gilbert and Harshman, Keith and Linke, Burkhard and Mikulic, Josip and Mueller, Linda and Nicolas, Damien and Robinson-Rechavi, Marc and Rivolta, Carlo and Roggo, Clémence and Roy, Shantanu and Sentchilo, Vladimir and Siebenthal, Alexandra Von and Falquet, Laurent and van der Meer, Jan Roelof. (2015) Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds. Environmental Microbiology, 17 (1). pp. 91-104.

Rahmioglu, Nilufer and Macgregor, Stuart and Drong, Alexander W. and Hedman, Åsa K. and Harris, Holly R. and Randall, Joshua C. and Prokopenko, Inga and International Endogene Consortium, and The Giant Consortium, and Nyholt, Dale R. and Morris, Andrew P. and Montgomery, Grant W. and Missmer, Stacey A. and Lindgren, Cecilia M. and Zondervan, Krina T.. (2015) Genome-wide enrichment analysis between endometriosis and obesity-related traits reveals novel susceptibility loci. Human Molecular Genetics, 24 (4). pp. 1185-1199.

Segarra, Nuria Garcia and Ballhausen, Diana and Crawford, Heather and Perreau, Matthieu and Campos-Xavier, Belinda and van Spaendonck-Zwarts, Karin and Vermeer, Cees and Russo, Michel and Zambelli, Pierre-Yves and Stevenson, Brian and Royer-Bertrand, Beryl and Rivolta, Carlo and Candotti, Fabio and Unger, Sheila and Munier, Francis L. and Superti-Furga, Andrea and Bonafé, Luisa. (2015) NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina. American journal of medical genetics. Part A, 167A (12). pp. 2902-2912.

Royer-Bertrand, Beryl and Rivolta, Carlo. (2015) Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. Cellular and Molecular Life Sciences, 72 (8). pp. 1463-1471.

Benaglio, Paola and San Jose, Patricia Fernandez and Avila-Fernandez, Almudena and Ascari, Giulia and Harper, Shyana and Manes, Gaël and Ayuso, Carmen and Hamel, Christian and Berson, Eliot L. and Rivolta, Carlo. (2014) Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Molecular vision, 20. pp. 843-851.

Hoggart, Clive J. and Venturini, Giulia and Mangino, Massimo and Gomez, Felicia and Ascari, Giulia and Zhao, Jing Hua and Teumer, Alexander and Winkler, Thomas W. and Tšernikova, Natalia and Luan, Jian'an and Mihailov, Evelin and Ehret, Georg B. and Zhang, Weihua and Lamparter, David and Esko, Tõnu and Macé, Aurelien and Rüeger, Sina and Bochud, Pierre-Yves and Barcella, Matteo and Dauvilliers, Yves and Benyamin, Beben and Evans, David M. and Hayward, Caroline and Lopez, Mary F. and Franke, Lude and Russo, Alessia and Heid, Iris M. and Salvi, Erika and Vendantam, Sailaja and Arking, Dan E. and Boerwinkle, Eric and Chambers, John C. and Fiorito, Giovanni and Grallert, Harald and Guarrera, Simonetta and Homuth, Georg and Huffman, Jennifer E. and Porteous, David and Generation Scotland Consortium, and LifeLines Cohort study, and Giant Consortium, and Moradpour, Darius and Iranzo, Alex and Hebebrand, Johannes and Kemp, John P. and Lammers, Gert J. and Aubert, Vincent and Heim, Markus H. and Martin, Nicholas G. and Montgomery, Grant W. and Peraita-Adrados, Rosa and Santamaria, Joan and Negro, Francesco and Schmidt, Carsten O. and Scott, Robert A. and Spector, Tim D. and Strauch, Konstantin and Völzke, Henry and Wareham, Nicholas J. and Yuan, Wei and Bell, Jordana T. and Chakravarti, Aravinda and Kooner, Jaspal S. and Peters, Annette and Matullo, Giuseppe and Wallaschofski, Henri and Whitfield, John B. and Paccaud, Fred and Vollenweider, Peter and Bergmann, Sven and Beckmann, Jacques S. and Tafti, Mehdi and Hastie, Nicholas D. and Cusi, Daniele and Bochud, Murielle and Frayling, Timothy M. and Metspalu, Andres and Jarvelin, Marjo-Riitta and Scherag, André and Smith, George Davey and Borecki, Ingrid B. and Rousson, Valentin and Hirschhorn, Joel N. and Rivolta, Carlo and Loos, Ruth J. F. and Kutalik, Zoltán. (2014) Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. PLoS Genetics, 10 (7). e1004508.

Venturini, Giulia and Di Gioia, Silvio Alessandro and Harper, Shyana and Weigel-DiFranco, Carol and Rivolta, Carlo and Berson, Eliot L.. (2014) Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa. PLoS ONE, 9 (3). e92479.

Rose, Anna M. and Shah, Amna Z. and Venturini, Giulia and Rivolta, Carlo and Rose, Geoffrey E. and Bhattacharya, Shomi S.. (2014) Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis". Annals of Human Genetics, 78. pp. 62-71.

Winkler, Thomas W. and Day, Felix R. and Croteau-Chonka, Damien C. and Wood, Andrew R. and Locke, Adam E. and Mägi, Reedik and Ferreira, Teresa and Fall, Tove and Graff, Mariaelisa and Justice, Anne E. and Luan, Jian'an and Gustafsson, Stefan and Randall, Joshua C. and Vedantam, Sailaja and Workalemahu, Tsegaselassie and Kilpeläinen, Tuomas O. and Scherag, André and Esko, Tonu and Kutalik, Zoltán and Heid, Iris M. and Loos, Ruth J. F. and Genetic Investigation of Anthropometric Traits Consortium, . (2014) Quality control and conduct of genome-wide association meta-analyses. Nature Protocols, 9 (5). pp. 1192-1212.

Nishiguchi, Koji M. and Avila-Fernandez, Almudena and van Huet, Ramon A. C. and Corton, Marta and Pérez-Carro, Raquel and Martín-Garrido, Esther and López-Molina, María Isabel and Blanco-Kelly, Fiona and Hoefsloot, Lies H. and van Zelst-Stams, Wendy A. and García-Ruiz, Pedro J. and Del Val, Javier and Di Gioia, Silvio Alessandro and Klevering, B. Jeroen and van de Warrenburg, Bart P. C. and Vazquez, Carlos and Cremers, Frans P. M. and García-Sandoval, Blanca and Hoyng, Carel B. and Collin, Rob W. J. and Rivolta, Carlo and Ayuso, Carmen. (2014) Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology, 121 (8). pp. 1620-1627.

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.

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.

Azzedine, Hamid and Zavadakova, Petra and Planté-Bordeneuve, Violaine and Vaz Pato, Maria and Pinto, Nuno and Bartesaghi, Luca and Zenker, Jennifer and Poirot, Olivier and Bernard-Marissal, Nathalie and Arnaud Gouttenoire, Estelle and Cartoni, Romain and Title, Alexandra and Venturini, Giulia and Médard, Jean-Jacques and Makowski, Edward and Schöls, Ludger and Claeys, Kristl G. and Stendel, Claudia and Roos, Andreas and Weis, Joachim and Dubourg, Odile and Leal Loureiro, José and Stevanin, Giovanni and Said, Gérard and Amato, Anthony and Baraban, Jay and LeGuern, Eric and Senderek, Jan and Rivolta, Carlo and Chrast, Roman. (2013) PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Human Molecular Genetics, 22 (20). pp. 4224-4232.

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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.

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.

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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.

Avila-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.

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.

Valsesia, 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.

Benaglio, 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.

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.

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Langmann, 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.

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.

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.

Butticaz, 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.

Tanackovic, Goranka and Rivolta, Carlo. (2009) PRPF31 alternative splicing and expression in human retina. Ophthalmic genetics, 30 (2). pp. 76-83.

Fukada, 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.

Rio 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.

Rivolta, 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.

Seyedahmadi, 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.

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.

Kobayashi, 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.

Wang, 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.

Rivolta, 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.

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.

Rivolta, 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 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.

Bengtsson, 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.

Bengtsson, Jenny and Tjalsma, Harold and Rivolta, Carlo and Hederstedt, Lars. (1999) Subunit II of Bacillus subtilis cytochrome c oxidase is a lipoprotein. Journal of Bacteriology, 181 (2). pp. 685-688.

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. Microbiology, 144 (11). pp. 3105-3109.

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.

Reizer, 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.

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