Items where Division is "09 Associated Institutions > Institute of Molecular and Clinical Ophthalmology Basel (IOB) > Research Group Rivolta IOB"

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Date | Item Type | Creators | Refereed
Number of items at this level: 47.


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.

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.

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.

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.

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.


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.

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.

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

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.

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.

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, 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.

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.

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.


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.

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.

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.

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.


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.

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.


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.


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.


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.

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.

Randall, Joshua C. and Winkler, Thomas W. and Kutalik, Zoltán and Berndt, Sonja I. and Jackson, Anne U. and Monda, Keri L. and Kilpeläinen, Tuomas O. and Esko, Tõnu and Mägi, Reedik and Li, Shengxu and Workalemahu, Tsegaselassie and Feitosa, Mary F. and Croteau-Chonka, Damien C. and Day, Felix R. and Fall, Tove and Ferreira, Teresa and Gustafsson, Stefan and Locke, Adam E. and Mathieson, Iain and Scherag, Andre and Vedantam, Sailaja and Wood, Andrew R. and Liang, Liming and Steinthorsdottir, Valgerdur and Thorleifsson, Gudmar and Dermitzakis, Emmanouil T. and Dimas, Antigone S. and Karpe, Fredrik and Min, Josine L. and Nicholson, George and Clegg, Deborah J. and Person, Thomas and Krohn, Jon P. and Bauer, Sabrina and Buechler, Christa and Eisinger, Kristina and Diagram Consortium, and Bonnefond, Amélie and Froguel, Philippe and Magic Investigators, and Hottenga, Jouke-Jan and Prokopenko, Inga and Waite, Lindsay L. and Harris, Tamara B. and Smith, Albert Vernon and Shuldiner, Alan R. and McArdle, Wendy L. and Caulfield, Mark J. and Munroe, Patricia B. and Grönberg, Henrik and Chen, Yii-Der Ida and Li, Guo and Beckmann, Jacques S. and Johnson, Toby and Thorsteinsdottir, Unnur and Teder-Laving, Maris and Khaw, Kay-Tee and Wareham, Nicholas J. and Zhao, Jing Hua and Amin, Najaf and Oostra, Ben A. and Kraja, Aldi T. and Province, Michael A. and Cupples, L. Adrienne and Heard-Costa, Nancy L. and Kaprio, Jaakko and Ripatti, Samuli and Surakka, Ida and Collins, Francis S. and Saramies, Jouko and Tuomilehto, Jaakko and Jula, Antti and Salomaa, Veikko and Erdmann, Jeanette and Hengstenberg, Christian and Loley, Christina and Schunkert, Heribert and Lamina, Claudia and Wichmann, H. Erich and Albrecht, Eva and Gieger, Christian and Hicks, Andrew A. and Johansson, Asa and Pramstaller, Peter P. and Kathiresan, Sekar and Speliotes, Elizabeth K. and Penninx, Brenda and Hartikainen, Anna-Liisa and Jarvelin, Marjo-Riitta and Gyllensten, Ulf and Boomsma, Dorret I. and Campbell, Harry and Wilson, James F. and Chanock, Stephen J. and Farrall, Martin and Goel, Anuj and Medina-Gomez, Carolina and Rivadeneira, Fernando and Estrada, Karol and Uitterlinden, André G. and Hofman, Albert and Zillikens, M. Carola and den Heijer, Martin and Kiemeney, Lambertus A. and Maschio, Andrea and Hall, Per and Tyrer, Jonathan and Teumer, Alexander and Völzke, Henry and Kovacs, Peter and Tönjes, Anke and Mangino, Massimo and Spector, Tim D. and Hayward, Caroline and Rudan, Igor and Hall, Alistair S. and Samani, Nilesh J. and Attwood, Antony Paul and Sambrook, Jennifer G. and Hung, Joseph and Palmer, Lyle J. and Lokki, Marja-Liisa and Sinisalo, Juha and Boucher, Gabrielle and Huikuri, Heikki and Lorentzon, Mattias and Ohlsson, Claes and Eklund, Niina and Eriksson, Johan G. and Barlassina, Cristina and Rivolta, Carlo and Nolte, Ilja M. and Snieder, Harold and Van der Klauw, Melanie M. and Van Vliet-Ostaptchouk, Jana V. and Gejman, Pablo V. and Shi, Jianxin and Jacobs, Kevin B. and Wang, Zhaoming and Bakker, Stephan J. L. and Mateo Leach, Irene and Navis, Gerjan and van der Harst, Pim and Martin, Nicholas G. and Medland, Sarah E. and Montgomery, Grant W. and Yang, Jian and Chasman, Daniel I. and Ridker, Paul M. and Rose, Lynda M. and Lehtimäki, Terho and Raitakari, Olli and Absher, Devin and Iribarren, Carlos and Basart, Hanneke and Hovingh, Kees G. and Hyppönen, Elina and Power, Chris and Anderson, Denise and Beilby, John P. and Hui, Jennie and Jolley, Jennifer and Sager, Hendrik and Bornstein, Stefan R. and Schwarz, Peter E. H. and Kristiansson, Kati and Perola, Markus and Lindström, Jaana and Swift, Amy J. and Uusitupa, Matti and Atalay, Mustafa and Lakka, Timo A. and Rauramaa, Rainer and Bolton, Jennifer L. and Fowkes, Gerry and Fraser, Ross M. and Price, Jackie F. and Fischer, Krista and Krjutå Kov, Kaarel and Metspalu, Andres and Mihailov, Evelin and Langenberg, Claudia and Luan, Jian'an and Ong, Ken K. and Chines, Peter S. and Keinanen-Kiukaanniemi, Sirkka M. and Saaristo, Timo E. and Edkins, Sarah and Franks, Paul W. and Hallmans, Göran and Shungin, Dmitry and Morris, Andrew David and Palmer, Colin N. A. and Erbel, Raimund and Moebus, Susanne and Nöthen, Markus M. and Pechlivanis, Sonali and Hveem, Kristian and Narisu, Narisu and Hamsten, Anders and Humphries, Steve E. and Strawbridge, Rona J. and Tremoli, Elena and Grallert, Harald and Thorand, Barbara and Illig, Thomas and Koenig, Wolfgang and Müller-Nurasyid, Martina and Peters, Annette and Boehm, Bernhard O. and Kleber, Marcus E. and März, Winfried and Winkelmann, Bernhard R. and Kuusisto, Johanna and Laakso, Markku and Arveiler, Dominique and Cesana, Giancarlo and Kuulasmaa, Kari and Virtamo, Jarmo and Yarnell, John W. G. and Kuh, Diana and Wong, Andrew and Lind, Lars and de Faire, Ulf and Gigante, Bruna and Magnusson, Patrik K. E. and Pedersen, Nancy L. and Dedoussis, George and Dimitriou, Maria and Kolovou, Genovefa and Kanoni, Stavroula and Stirrups, Kathleen and Bonnycastle, Lori L. and Njølstad, Inger and Wilsgaard, Tom and Ganna, Andrea and Rehnberg, Emil and Hingorani, Aroon and Kivimaki, Mika and Kumari, Meena and Assimes, Themistocles L. and Barroso, Inês and Boehnke, Michael and Borecki, Ingrid B. and Deloukas, Panos and Fox, Caroline S. and Frayling, Timothy and Groop, Leif C. and Haritunians, Talin and Hunter, David and Ingelsson, Erik and Kaplan, Robert 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 Abecasis, Gonçalo R. and McCarthy, Mark I. and Hirschhorn, Joel N. and Qi, Lu and Loos, Ruth J. F. and Lindgren, Cecilia M. and North, Kari E. and Heid, Iris M.. (2013) Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genetics, 9 (6). e1003500.

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.

April 2011

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.


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 2010

Benaglio, 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.


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.


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.

This list was generated on Fri Dec 1 03:45:46 2023 CET.