Carlo Rivolta

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 43

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Dna Methylation

Metastatic Colorectal Cancer

Top Venues

Nature communications

EMBO molecular medicine

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

This page only lists publications with an associated author ORCID identifier.

Publications

Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S Krebs, Maxime Jan, Rita C Malta, Emilie Collinet, Mathieu Canales, Amandine Mathias, Nicole Faignart, Eliane Roulet-Perez, Pascal Meylan, René Brouillet, Onya Opota, Leyder Lozano-Calderon, Florence Fellmann, Nicolas Guex, Vincent Zoete, Sandra Asner, Carlo Rivolta, Renaud Du Pasquier, Pierre-Yves Bochud
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase. Nature communications 15 (1) (2024)
Yvan Arsenijevic, Ning Chang, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Caroline Joubert, Alexis Pierre Bemelmans, Carlo Rivolta, Eyal Banin, Dror Sharon, Paul Guichard, Virginie Hamel, Corinne Kostic
Fine-tuning FAM161A gene augmentation therapy to restore retinal function. EMBO molecular medicine 16 (4) (2024)
Yvan Arsenijevic, Ning Chang, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Caroline Joubert, Alexis Pierre Bemelmans, Carlo Rivolta, Eyal Banin, Dror Sharon, Paul Guichard, Virginie Hamel, Corinne Kostic
Fine-tuning FAM161A gene augmentation therapy to restore retinal function. EMBO molecular medicine 16 (4) (2024)
Yvan Arsenijevic, Ning Chang, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Caroline Joubert, Alexis Pierre Bemelmans, Carlo Rivolta, Eyal Banin, Dror Sharon, Paul Guichard, Virginie Hamel, Corinne Kostic
Fine-tuning FAM161A gene augmentation therapy to restore retinal function. EMBO molecular medicine (2024)
Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S Krebs, Maxime Jan, Rita C Malta, Emilie Collinet, Mathieu Canales, Amandine Mathias, Nicole Faignart, Eliane Roulet-Perez, Pascal Meylan, René Brouillet, Onya Opota, Leyder Lozano-Calderon, Florence Fellmann, Nicolas Guex, Vincent Zoete, Sandra Asner, Carlo Rivolta, Renaud Du Pasquier, Pierre-Yves Bochud
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase. Nature communications 15 (1) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 262 (6) (2024)
Yvan Arsenijevic, Ning Chang, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Caroline Joubert, Alexis Pierre Bemelmans, Carlo Rivolta, Eyal Banin, Dror Sharon, Paul Guichard, Virginie Hamel, Corinne Kostic
Fine-tuning FAM161A gene augmentation therapy to restore retinal function. EMBO molecular medicine 16 (4) (2024)
Rebekkah J Hitti-Malin, Daan M Panneman, Zelia Corradi, Erica G M Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard Heinrich Friedrich Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Francesca Simonelli, Tamar Ben-Yosef, Damjan Glavač, G Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P Szaflik, Anna Matynia, Michael B Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfriede De Baere, Carel B Hoyng, Catherina H Z Li, Caroline C W Klaver, Chris F Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L Vincent, Lisa Roberts, Rajkumar Ramesar, Giovanna Sartor, Elena Luppi, Susan M Downes, L Ingeborgh van den Born, Terri L McLaren, John N De Roach, Tina M Lamey, Jennifer A Thompson, Fred K Chen, Anna M Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J Bolz, Hülya Kayserili, Susanne Roosing, Frans P M Cremers
Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes. Biomolecules 14 (3) (2024)
Stéphanie Bibert, Mathieu Quinodoz, Sylvain Perriot, Fanny S Krebs, Maxime Jan, Rita C Malta, Emilie Collinet, Mathieu Canales, Amandine Mathias, Nicole Faignart, Eliane Roulet-Perez, Pascal Meylan, René Brouillet, Onya Opota, Leyder Lozano-Calderon, Florence Fellmann, Nicolas Guex, Vincent Zoete, Sandra Asner, Carlo Rivolta, Renaud Du Pasquier, Pierre-Yves Bochud
Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase. Nature communications 15 (1) (2024)
Yvan Arsenijevic, Ning Chang, Olivier Mercey, Younes El Fersioui, Hanna Koskiniemi-Kuendig, Caroline Joubert, Alexis Pierre Bemelmans, Carlo Rivolta, Eyal Banin, Dror Sharon, Paul Guichard, Virginie Hamel, Corinne Kostic
Fine-tuning FAM161A gene augmentation therapy to restore retinal function. EMBO molecular medicine 16 (4) (2024)
Telmo Cortinhal, Cristina Santos, Sara Vaz-Pereira, Ana Ambrósio Marta, Lilianne Duarte, Vítor Miranda, José F Costa, Ana-Berta Sousa, Virginie G Peter, Karolina Kaminska, Carlo Rivolta, Ana Luísa Carvalho, Jorge Saraiva, Célia Azevedo Soares, Rufino Silva, Joaquim Murta, Luísa Coutinho Santos, João Pedro Marques
Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2024)
Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Virginie G Peter, Karolina Kaminska, Cristina Santos, Mathieu Quinodoz, Francesca Cancellieri, Katarina Cisarova, Rosanna Pescini Gobert, Raquel Rodrigues, Sónia Custódio, Liliana P Paris, Ana-Berta Sousa, Luísa Coutinho Santos, Carlo Rivolta
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS nexus 2 (3) (2023)
Cristina Santos, Andreia Almeida, Rita Pinto, Karolina Kaminska, Virginie G Peter, Ana-Berta Sousa, Carlo Rivolta, Luísa Coutinho Santos
Anisometropia and asymmetric ABCA4 -related cone-rod dystrophy. Ophthalmic genetics 43 (4) (2022)
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H Z Li, Robert A Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna E Weener, Theresia Zuleger, Tobias B Haack, Katarina Stingl, null null, Carel B Hoyng, Omar A Mahroo, Iain Hargreaves, F Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R Webster, Gavin Arno
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype. NPJ genomic medicine 7 (1) (2022)
Muhammad Ansar, Samra Javed, Hafiz Muhammad Azhar Baig, Mathieu Quinodoz, Mukhtar Ullah, Ji Hoon Han, Muhammad Usama Rahim, Humera Kausar, Giacomo Calzetti, Carlo Rivolta
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome. Ophthalmic genetics 43 (5) (2022)
Katya Nardou, Michael Nicolas, Fabien Kuttler, Katarina Cisarova, Elifnaz Celik, Mathieu Quinodoz, Nicolo Riggi, Olivier Michielin, Carlo Rivolta, Gerardo Turcatti, Alexandre Pierre Moulin
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening. Cancers 14 (6) (2022)
Marion Schroeder, Virginie G Peter, Lotta Gränse, Sten Andréasson, Carlo Rivolta, Ulrika Kjellström
A novel phenotype associated with the R162W variant in the KCNJ13 gene. Ophthalmic genetics 43 (4) (2022)
Guillaume Butler-Laporte, Gundula Povysil, Jack A Kosmicki, Elizabeth T Cirulli, Theodore G Drivas, Simone Furini, Chadi Saad, Axel Schmidt, Pawel Olszewski, Urszula Korotko, Mathieu Quinodoz, Elifnaz Celik, Kousik Kundu, Klaudia Walter, Junghyun Jung, Amy D Stockwell, Laura G Sloofman G Sloofman, Daniel M Jordan, Ryan C Thompson, Diane M Del Valle, Nicole W Simons, Esther Cheng, Robert Sebra, Eric E Schadt, Seunghee Kim-Schulze, Sacha Gnjatic, Miriam Merad, Joseph D Buxbaum, Noam D Beckmann, Alexander W Charney, Bartlomiej Przychodzen, Timothy S Chang, Tess D Pottinger, Ning Shang, Fabian Brand, Francesca Fava, Francesca Mari, Karolina Chwialkowska, Magdalena Niemira, Szymon Pula, J Kenneth Baillie, Alex Stuckey, Antonio Salas, Xabier Bello, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Irene Rivero-Calle, Federico Martinón-Torres, Andrea Ganna, Konrad J Karczewski, Kumar Veerapen, Mathieu Bourgey, Guillaume Bourque, Robert Jm Eveleigh, Vincenzo Forgetta, David R Morrison, David Langlais, Mark Lathrop, Vincent Mooser, Tomoko Nakanishi, Robert Frithiof, Michael Hultström, Miklos Lipcsey, Yanara Marincevic-Zuniga, Jessica Nordlund, Kelly M Schiabor Barrett, William Lee, Alexandre Bolze, Simon White, Stephen Riffle, Francisco Tanudjaja, Efren Sandoval, Iva Neveux, Shaun Dabe, Nicolas Casadei, Susanne Motameny, Manal Alaamery, Salam Massadeh, Nora Aljawini, Mansour S Almutairi, Yaseen M Arabi, Saleh A Alqahtani, Fawz S Al Harthi, Amal Almutairi, Fatima Alqubaishi, Sarah Alotaibi, Albandari Binowayn, Ebtehal A Alsolm, Hadeel El Bardisy, Mohammad Fawzy, Fang Cai, Nicole Soranzo, Adam Butterworth, null null, null null, null null, null null, null null, null null, null null, null null, Daniel H Geschwind, Stephanie A Arteaga, Alexis Stephens, Manish J Butte, Paul C Boutros, Takafumi N Yamaguchi, Shu Tao, Stefan E Eng, Timothy Sanders, Paul J Tung, Michael E Broudy, Yu Pan, Alfredo E Gonzalez, Nikhil Chavan, Ruth Johnson, Bogdan Pasaniuc, Brian L Yaspan, Christos M Polymeropoulos, Carlo Rivolta, Stephanie Bibert, Pierre-Yves Bochud, Maciej Dąbrowski, Pawel Zawadzki, Mateusz Sypniewski, Elżbieta Kaja, Pajaree Chariyavilaskul, Voraphoj Nilaratanakul, Nattiya Hirankarn, Vorasuk Shotelersuk, Monnat Pongpanich, Chureerat Phokaew, Wanna Chetruengchai, Katsushi Tokunaga, Masaya Sugiyama, Yosuke Kawai, Takanori Hasegawa, Tatsuhiko Naito, Ho Namkoong, Ryuya Edahiro, Akinori Kimura, Seishi Ogawa, Takanori Kanai, Koichi Fukunaga, Yukinori Okada, Seiya Imoto, Satoru Miyano, Serghei Mangul, Malak S Abedalthagafi, Hugo Zeberg, Joseph J Grzymski, Nicole L Washington, Stephan Ossowski, Kerstin U Ludwig, Eva C Schulte, Olaf Riess, Marcin Moniuszko, Miroslaw Kwasniewski, Hamdi Mbarek, Said I Ismail, Anurag Verma, David B Goldstein, Krzysztof Kiryluk, Alessandra Renieri, Manuel A R Ferreira, John Brent Richards
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative. PLoS genetics 18 (11) (2022)
Koji M Nishiguchi, Fuyuki Miya, Yuka Mori, Kosuke Fujita, Masato Akiyama, Takashi Kamatani, Yoshito Koyanagi, Kota Sato, Toru Takigawa, Shinji Ueno, Misato Tsugita, Hiroshi Kunikata, Katarina Cisarova, Jo Nishino, Akira Murakami, Toshiaki Abe, Yukihide Momozawa, Hiroko Terasaki, Yuko Wada, Koh-Hei Sonoda, Carlo Rivolta, Tatushiko Tsunoda, Motokazu Tsujikawa, Yasuhiro Ikeda, Toru Nakazawa
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. Communications biology 4 (1) (2021)
Riccardo Sangermano, Iris Deitch, Virginie G Peter, Rola Ba-Abbad, Emily M Place, Erin Zampaglione, Naomi E Wagner, Anne B Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala'a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A Pierce, Carlo Rivolta, Andrew R Webster, Gavin Arno, Dror Sharon, Rachel M Huckfeldt, Kinga M Bujakowska
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ genomic medicine 6 (1) (2021)
Isis Atallah, Mathieu Quinodoz, Belinda Campos-Xavier, Virginie G Peter, Athina Fouriki, Christophe Bonvin, Armand Bottani, Camille Kumps, Federica Angelini, Felicitas Bellutti Enders, Stéphanie Christen-Zaech, Mattia Rizzi, Raffaele Renella, Maja Beck-Popovic, Claudia Poloni, Valérie Frossard, Jean-Louis Blouin, Carlo Rivolta, Orbicia Riccio, Fabio Candotti, Michael Hofer, Sheila Unger, Andrea Superti-Furga
Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the TPP2 gene. Clinical genetics 99 (6) (2021)
Lila Allou, Sara Balzano, Andreas Magg, Mathieu Quinodoz, Beryl Royer-Bertrand, Robert Schöpflin, Wing-Lee Chan, Carlos E Speck-Martins, Daniel Rocha Carvalho, Luciano Farage, Charles Marques Lourenço, Regina Albuquerque, Srilakshmi Rajagopal, Sheela Nampoothiri, Belinda Campos-Xavier, Carole Chiesa, Florence Niel-Bütschi, Lars Wittler, Bernd Timmermann, Malte Spielmann, Michael I Robson, Alessa Ringel, Verena Heinrich, Giulia Cova, Guillaume Andrey, Cesar A Prada-Medina, Rosanna Pescini Gobert, Sheila Unger, Luisa Bonafé, Phillip Grote, Carlo Rivolta, Stefan Mundlos, Andrea Superti-Furga
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature 592 (7852) (2021)
Mathieu Quinodoz, Virginie G Peter, Nicola Bedoni, Béryl Royer Bertrand, Katarina Cisarova, Arash Salmaninejad, Neda Sepahi, Raquel Rodrigues, Mehran Piran, Majid Mojarrad, Alireza Pasdar, Ali Ghanbariasad, Ana Berta Sousa, Luísa Coutinho Santos, Andrea Superti-Furga, Carlo Rivolta
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nature communications 12 (1) (2021)
Sebastien Lebon, Mathieu Quinodoz, Virginie G Peter, Carole Gengler, Gaëlle Blanchard, Viviane Cina, Belinda Campos-Xavier, Carlo Rivolta, Andrea Superti-Furga
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants. Genes 12 (9) (2021)
Virginie G Peter, Mathieu Quinodoz, Silvia Sadio, Sebastian Held, Márcia Rodrigues, Marta Soares, Ana Berta Sousa, Luisa Coutinho Santos, Markus Damme, Carlo Rivolta
New clinical and molecular evidence linking mutations in ARSG to Usher syndrome type IV. Human mutation 42 (3) (2020)
Mor Hanany, Carlo Rivolta, Dror Sharon
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) (2020)
Katarina Cisarova, Marc Folcher, Ikram El Zaoui, Rosanna Pescini Gobert, Virginie G Peter, Beryl Royer-Bertrand, Leonidas Zografos, Ann Schalenbourg, Michael Nicolas, Donata Rimoldi, Serge Leyvraz, Nicolò Riggi, Alexandre P Moulin, Carlo Rivolta
Genomic and transcriptomic landscape of conjunctival melanoma. PLoS genetics 16 (12) (2020)
Giulia Ascari, Frank Peelman, Pietro Farinelli, Toon Rosseel, Nina Lambrechts, Kirsten A Wunderlich, Matias Wagner, Konstantinos Nikopoulos, Pernille Martens, Irina Balikova, Lara Derycke, Gabriële Holtappels, Olga Krysko, Thalia Van Laethem, Sarah De Jaegere, Brecht Guillemyn, Teddy Jégu, Jan De Bleecker, David Creytens, Jo Van Dorpe, Jan Gerris, Claus Bachert, Christiane M Neuhofer, Sophie Walraedt, Almut Bischoff, Lotte Bang Pedersen, Florentine Radelfahr, Carlo Rivolta, Bart Peter Leroy, Elfriede De Baere, Frauke Coppieters
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) (2020)
James A Poulter, Molly S C Gravett, Rachel L Taylor, Kaoru Fujinami, Julie De Zaeytijd, James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, Muhammad Ansar, Dan Donnelly, Carmel Toomes, Manir Ali, null null, Elfride De Baere, Bart P Leroy, Nigel P Davies, Robert H Henderson, Andrew R Webster, Carlo Rivolta, Christina Zeitz, Omar A Mahroo, Gavin Arno, Graeme C M Black, Martin McKibbin, Sarah A Harris, Kamron N Khan, Chris F Inglehearn
New variants and in silico analyses in GRK1 associated Oguchi disease. Human mutation 42 (2) (2020)
Abigail R Moye, Nicola Bedoni, Jessica G Cunningham, Urikhan Sanzhaeva, Eric S Tucker, Peter Mathers, Virginie G Peter, Mathieu Quinodoz, Liliana P Paris, Luísa Coutinho Santos, Pedro Camacho, Madeleine G Purcell, Abbie C Winkelmann, James A Foster, Elena N Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. PLoS genetics 15 (8) (2019)
Min Zhao, Irmela Mantel, Emmanuelle Gelize, Xinxin Li, Xiaoyue Xie, Alejandro Arboleda, Marie Seminel, Rinath Levy-Boukris, Marilyn Dernigoghossian, Andrea Prunotto, Charlotte Andrieu-Soler, Carlo Rivolta, Jérémie Canonica, Marie-Christine Naud, Sebastian Lechner, Nicolette Farman, Irene Bravo-Osuna, Rocio Herrero-Vanrell, Frederic Jaisser, Francine Behar-Cohen
Mineralocorticoid receptor antagonism limits experimental choroidal neovascularization and structural changes associated with neovascular age-related macular degeneration. Nature communications 10 (1) (2019)
Konstantinos Nikopoulos, Katarina Cisarova, Mathieu Quinodoz, Hanna Koskiniemi-Kuendig, Noriko Miyake, Pietro Farinelli, Atta Ur Rehman, Muhammad Imran Khan, Andrea Prunotto, Masato Akiyama, Yoichiro Kamatani, Chikashi C Terao, Fuyuki Miya, Yasuhiro Ikeda, Shinji Ueno, Nobuo Fuse, Akira Murakami, Yuko Wada, Hiroko Terasaki, Koh-Hei Sonoda, Tatsuro Ishibashi, Michiaki Kubo, Frans P M Cremers, Zoltán Kutalik, Naomichi Matsumoto, Koji M Nishiguchi, Toru Nakazawa, Carlo Rivolta
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature communications 10 (1) (2019)
Virginie G Peter, Konstantinos Nikopoulos, Mathieu Quinodoz, Lotta Granse, Pietro Farinelli, Andrea Superti-Furga, Sten Andréasson, Carlo Rivolta
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa. Ophthalmic genetics 40 (2) (2019)
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The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. The Journal of experimental medicine 214 (3) (2017)