Carlo Rivolta
AuthID: R-00G-6B8
1
TITLE: Genetic profile of syndromic retinitis pigmentosa in Portugal Full Text
AUTHORS: Cortinhal, Telmo; Santos, Cristina; Vaz Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, Jose; Sousa, Ana Berta; Peter, Virginie G.; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luisa; Saraiva, Jorge; Soares, Celia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luisa Coutinho; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
AUTHORS: Cortinhal, Telmo; Santos, Cristina; Vaz Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, Jose; Sousa, Ana Berta; Peter, Virginie G.; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luisa; Saraiva, Jorge; Soares, Celia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luisa Coutinho; Marques, Joao Pedro;
PUBLISHED: 2024, SOURCE: GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
AUTHORS: Peter, Virginie G.; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Gobert, Rosanna Pescini; Rodrigues, Raquel; Custodio, Sonia; Paris, Liliana P.; Sousa, Ana Berta; Santos, Luisa Coutinho; Rivolta, Carlo;
PUBLISHED: 2023, SOURCE: PNAS NEXUS, VOLUME: 2, ISSUE: 3
AUTHORS: Peter, Virginie G.; Kaminska, Karolina; Santos, Cristina; Quinodoz, Mathieu; Cancellieri, Francesca; Cisarova, Katarina; Gobert, Rosanna Pescini; Rodrigues, Raquel; Custodio, Sonia; Paris, Liliana P.; Sousa, Ana Berta; Santos, Luisa Coutinho; Rivolta, Carlo;
PUBLISHED: 2023, SOURCE: PNAS NEXUS, VOLUME: 2, ISSUE: 3
INDEXED IN: WOS
WOS3
TITLE: Anisometropia and asymmetric ABCA4-related cone-rod dystrophy
AUTHORS: Santos, Cristina; Almeida, Andreia; Pinto, Rita; Kaminska, Karolina; Peter, Virginie G.; Sousa, Ana Berta; Rivolta, Carlo; Coutinho Santos, Luisa;
PUBLISHED: 2022, SOURCE: OPHTHALMIC GENETICS
AUTHORS: Santos, Cristina; Almeida, Andreia; Pinto, Rita; Kaminska, Karolina; Peter, Virginie G.; Sousa, Ana Berta; Rivolta, Carlo; Coutinho Santos, Luisa;
PUBLISHED: 2022, SOURCE: OPHTHALMIC GENETICS
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
AUTHORS: Quinodoz, M; Peter, VG; Bedoni, N; Bertrand, BR; Cisarova, K; Salmaninejad, A; Sepahi, N; Rodrigues, R; Piran, M; Mojarrad, M; Pasdar, A; Asad, AG; Sousa, AB; Santos, LC; Superti Furga, A; Rivolta, C;
PUBLISHED: 2021, SOURCE: NATURE COMMUNICATIONS, VOLUME: 12, ISSUE: 1
AUTHORS: Quinodoz, M; Peter, VG; Bedoni, N; Bertrand, BR; Cisarova, K; Salmaninejad, A; Sepahi, N; Rodrigues, R; Piran, M; Mojarrad, M; Pasdar, A; Asad, AG; Sousa, AB; Santos, LC; Superti Furga, A; Rivolta, C;
PUBLISHED: 2021, SOURCE: NATURE COMMUNICATIONS, VOLUME: 12, ISSUE: 1
INDEXED IN: WOS
WOS5
TITLE: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
AUTHORS: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
AUTHORS: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
INDEXED IN: Scopus WOS
Scopus WOS6
TITLE: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
INDEXED IN: Scopus WOS
Scopus WOS7
TITLE: Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice Full Text
AUTHORS: Abigail R Moye; Nicola Bedoni; Jessica G Cunningham; Urikhan Sanzhaeva; Eric S Tucker; Peter Mathers; Virginie G Peter; Mathieu Quinodoz; Liliana P Paris; Luisa Coutinho Santos; Pedro Camacho; Madeleine G Purcell; Abbie C Winkelmann; James A Foster; Elena N Pugacheva; Carlo Rivolta; Visvanathan Ramamurthy;
PUBLISHED: 2019, SOURCE: PLOS GENETICS, VOLUME: 15, ISSUE: 8
AUTHORS: Abigail R Moye; Nicola Bedoni; Jessica G Cunningham; Urikhan Sanzhaeva; Eric S Tucker; Peter Mathers; Virginie G Peter; Mathieu Quinodoz; Liliana P Paris; Luisa Coutinho Santos; Pedro Camacho; Madeleine G Purcell; Abbie C Winkelmann; James A Foster; Elena N Pugacheva; Carlo Rivolta; Visvanathan Ramamurthy;
PUBLISHED: 2019, SOURCE: PLOS GENETICS, VOLUME: 15, ISSUE: 8
INDEXED IN: Scopus WOS
Scopus WOS8
TITLE: The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
AUTHORS: Virginie G Peter; Mathieu Quinodoz; Jorge Pinto Basto; Sergio B Sousa; Silvio Alessandro Di Gioia; Gabriela Soares; Gabriela Ferraz Leal; Eduardo D Silva; Rosanna Pescini Gobert; Noriko Miyake; Naomichi Matsumoto; Elizabeth C Engle; Sheila Unger; Frederic Shapiro; Andrea Superti Furga; Carlo Rivolta; Belinda Campos Xavier;
PUBLISHED: 2019, SOURCE: GENETICS IN MEDICINE, VOLUME: 21, ISSUE: 12
INDEXED IN: WOS
WOS9
TITLE: PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive CharcotMarieTooth disease
AUTHORS: Hamid Azzedine; Petra Zavadakova; Violaine Plante Bordeneuve; Maria Vaz Pato; Nuno Pinto; Luca Bartesaghi; Jennifer Zenker; Olivier Poirot; Nathalie Bernard Marissal; Estelle Arnaud Gouttenoire; Romain Cartoni; Alexandra Title; Giulia Venturini; Jean Jacques Medard; Edward Makowski; Ludger Schoels; Kristl G Claeys; Claudia Stendel; Andreas Roos; Joachim Weis; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 20
AUTHORS: Hamid Azzedine; Petra Zavadakova; Violaine Plante Bordeneuve; Maria Vaz Pato; Nuno Pinto; Luca Bartesaghi; Jennifer Zenker; Olivier Poirot; Nathalie Bernard Marissal; Estelle Arnaud Gouttenoire; Romain Cartoni; Alexandra Title; Giulia Venturini; Jean Jacques Medard; Edward Makowski; Ludger Schoels; Kristl G Claeys; Claudia Stendel; Andreas Roos; Joachim Weis; ...More
PUBLISHED: 2013, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 22, ISSUE: 20
10
TITLE: The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-beta Signaling Pathways Full Text
AUTHORS: Toshiyuki Fukada; Natacha Civic; Tatsuya Furuichi; Shinji Shimoda; Kenji Mishima; Hiroyuki Higashiyama; Yayoi Idaira; Yoshinobu Asada; Hiroshi Kitamura; Satoru Yamasaki; Shintaro Hojyo; Manabu Nakayama; Osamu Ohara; Haruhiko Koseki; Heloisa G dos Santos; Luisa Bonafe; Russia Ha Vinh; Andreas Zankl; Sheila Unger; Marius E Kraenzlin; ...More
PUBLISHED: 2008, SOURCE: PLOS ONE, VOLUME: 3, ISSUE: 11
AUTHORS: Toshiyuki Fukada; Natacha Civic; Tatsuya Furuichi; Shinji Shimoda; Kenji Mishima; Hiroyuki Higashiyama; Yayoi Idaira; Yoshinobu Asada; Hiroshi Kitamura; Satoru Yamasaki; Shintaro Hojyo; Manabu Nakayama; Osamu Ohara; Haruhiko Koseki; Heloisa G dos Santos; Luisa Bonafe; Russia Ha Vinh; Andreas Zankl; Sheila Unger; Marius E Kraenzlin; ...More
PUBLISHED: 2008, SOURCE: PLOS ONE, VOLUME: 3, ISSUE: 11
