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

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Number of items at this level: 32.

A

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.

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.

B

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.

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.

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.

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.

D

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.

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.

G

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.

H

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.

M

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.

N

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.

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.

P

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.

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.

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.

Q

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.

R

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.

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.

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.

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.

S

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.

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.

T

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.

V

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.

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.

W

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.

This list was generated on Mon May 17 03:53:52 2021 CEST.