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C

Carlo Rivolta

university of basel

55H指数
291论文数
1.9W被引数
收录论文 116
发表时间
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Clinical and molecular features of PRCD-associated retinopathyPRCD相关视网膜病变的临床和分子特征
errActa Ophthalmologica
IF2.8
err2026-09-20
err0
errOAAI
errVasil Kostin; Karolina Kaminska; Marco Cattaneo; Enrico Ambrosini; Carmen Ayuso; Almudena Ávila-Fernández; Béatrice Bocquet; Luisa Coutinho-Santos; Benedetto Falsini; Lidia Fernandez-Caballero Palomeque; Bohdan Kousal; Petra Liskova; Inmaculada Martín-Mérida; María Juliana Ballesta-Martínez; Daan Panneman; Susanne Roosing; Isabelle Meunier; José M. Millán; Monika Pankievič; Irene Perea-Romero; Virginie Peter; Giorgio Placidi; Cristina Santos; Francesca Simonelli; Ana Berta Sousa; Francesco Testa; Marie Vajter; Marianna Weener; Mathieu Quinodoz; Carlo Rivolta; Giacomo Calzetti
err分享
err收藏
The Trajectory of Gene Discovery in Retinitis Pigmentosa视网膜色素变性中基因发现的轨迹
errGenes
IF2.8
err2026-08-13
err0
errOAAI
errAnthony X. J. Wong; Zachary Chua; Jing Guo; Hwee Goon Tay; Zhen Xun Wang; Mathieu Quinodoz; Tien-En Tan; Carlo Rivolta; Beau J. Fenner
err分享
err收藏
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosaU4和U6 snRNA基因的新生和遗传显性变异导致色素性视网膜炎
errNature Genetics
IF29
err2026-01-09
err0
errOAAI
errMathieu Quinodoz; Kim Rodenburg; Zuzana Cvackova; Karolina Kaminska; Suzanne E. de Bruijn; Ana Belén Iglesias-Romero; Erica G. M. Boonen; Mukhtar Ullah; Nick Zomer; Marc Folcher; Jacques Bijon; Lara K. Holtes; Stephen H. Tsang; Zelia Corradi; K. Bailey Freund; Stefanida Shliaga; Daan M. Panneman; Rebekkah J. Hitti-Malin; Manir Ali; Ala’a AlTalbishi; Sten Andréasson; Georg Ansari; Gavin Arno; Galuh D. N. Astuti; Carmen Ayuso; Radha Ayyagari; Sandro Banfi; Eyal Banin; Tahsin Stefan Barakat; Mirella T. S. Barboni; Miriam Bauwens; Tamar Ben-Yosef; Virginie Bernard; David G. Birch; Pooja Biswas; Fiona Blanco-Kelly; Beatrice Bocquet; Camiel J. F. Boon; Kari Branham; Dominique Bremond-Gignac; Alexis Ceecee Britten-Jones; Kinga M. Bujakowska; Cyril Burin des Roziers; Elizabeth L. Cadena; Giacomo Calzetti; Francesca Cancellieri; Luca Cattaneo; Naomi Chadderton; Peter Charbel Issa; Luísa Coutinho-Santos; Stephen P. Daiger; Elfride De Baere; Marieke De Bruyne; Berta de la Cerda; John N. De Roach; Julie De Zaeytijd; Ronny Derks; Claire-Marie Dhaenens; Lubica Dudakova; Jacque L. Duncan; G. Jane Farrar; Nicolas Feltgen; Beau J. Fenner; Lidia Fernández-Caballero; Juliana M. Ferraz Sallum; Simone Gana; Alejandro Garanto; Jessica C. Gardner; Christian Gilissen; Roser Gonzàlez-Duarte; Kensuke Goto; Sam Griffiths-Jones; Tobias B. Haack; Lonneke Haer-Wigman; Alison J. Hardcastle; Takaaki Hayashi; Elise Héon; Lies H. Hoefsloot; Alexander Hoischen; Josephine P. Holtan; Carel B. Hoyng; Manuel Benjamin B. Ibanez; Chris F. Inglehearn; Takeshi Iwata; Brynjar O. Jensson; Kaylie Jones; Vasiliki Kalatzis; Smaragda Kamakari; Marianthi Karali; Ulrich Kellner; Caroline C. W. Klaver; Krisztina Knézy; Robert K. Koenekoop; Susanne Kohl; Taro Kominami; Laura Kühlewein; Tina M. Lamey; Rina Leibu; Bart P. Leroy; Petra Liskova; Irma Lopez; Victor R. de J. López-Rodríguez; Quinten Mahieu; Omar A. Mahroo; Gaël Manes; Luke Mansard; M. Pilar Martín-Gutiérrez; Nelson Martins; Laura Mauring; Martin McKibbin; Terri L. McLaren; Isabelle Meunier; Michel Michaelides; José M. Millán; Kei Mizobuchi; Rajarshi Mukherjee; Zoltán Zsolt Nagy; Kornelia Neveling; Monika Ołdak; Michiel Oorsprong; Yang Pan; Anastasia Papachristou; Antonio Percesepe; Maximilian Pfau; Eric A. Pierce; Emily Place; Raj Ramesar; Francis Ramond; Florence Andrée Rasquin; Gillian I. Rice; Lisa Roberts; María Rodríguez-Hidalgo; Javier Ruiz-Ederra; Ataf H. Sabir; Ai Fujita Sajiki; Ana Isabel Sánchez-Barbero; Asodu Sandeep Sarma; Riccardo Sangermano; Cristina M. Santos; Margherita Scarpato; Hendrik P. N. Scholl; Dror Sharon; Sabrina G. Signorini; Francesca Simonelli; Ana Berta Sousa; Maria Stefaniotou; Kari Stefansson; Katarina Stingl; Akiko Suga; Patrick Sulem; Lori S. Sullivan; Viktória Szabó; Jacek P. Szaflik; Gita Taurina; Alberta A. H. J. Thiadens; Carmel Toomes; Viet H. Tran; Miltiadis K. Tsilimbaris; Pavlina Tsoka; Veronika Vaclavik; Marie Vajter; Sandra Valeina; Enza Maria Valente; Casey Valentine; Rebeca Valero; Sophie Valleix; Joseph van Aerschot; L. Ingeborgh van den Born; Mattias Van Heetvelde; Virginie J. M. Verhoeven; Andrea L. Vincent; Andrew R. Webster; Laura Whelan; Bernd Wissinger; Georgia G. Yioti; Kazutoshi Yoshitake; Juan C. Zenteno; Roberta Zeuli; Theresia Zuleger; Chaim Landau; Allan I. Jacob; Siying Lin; Frans P. M. Cremers; Winston Lee; Jamie M. Ellingford; David Stanek; Susanne Roosing; Carlo Rivolta
err分享
err收藏
Sub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development睫状体上皮下定位的CEP290及其在发育过程中在小鼠感光细胞中缺失的影响
errJOURNAL OF CELL SCIENCE
IF3.6
err2025-10-01
err2
PREAI
errMoye, Abigail R.; Robichaux, Michael A.; Agosto, Melina A.; Moulin, Alexandre P.; Graff-Meyer, Alexandra; Rivolta, Carlo; Wensel, Theodore G.
err分享
err收藏
RetiGene, a comprehensive gene atlas for inherited retinal diseasesRetiGene，一种全面的遗传性视网膜疾病基因图谱
erramerican journal of human genetics
IF0
err2025-09-16
err0
errOAAI
errCarlo Rivolta; Elifnaz Celik; Dhryata Kamdar; Francesca Cancellieri; Karolina Kaminska; Mukhtar Ullah; Pilar Barberán-Martínez; Manon Bouckaert; Marta Cortón; Emma Delanote; Lidia Fernández-Caballero; Gema García García; Lara K. Holtes; Marianthi Karali; Irma Lopez; Virginie G. Peter; Nina Schneider; Lieselot Vincke; Carmen Ayuso; Sandro Banfi; Beatrice Bocquet; Frauke Coppieters; Frans P.M. Cremers; Chris F. Inglehearn; Takeshi Iwata; Vasiliki Kalatzis; Robert K. Koenekoop; José M. Millán; Dror Sharon; Carmel Toomes; Mathieu Quinodoz
err分享
err收藏
Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophyC19orf44基因的双等位基因无义变异导致一种独特的迟发性视网膜营养不良表型，其特征为斑片状黄斑周围脉络膜视网膜萎缩。
errGENETICS IN MEDICINE
IF6.2
err2025-06-01
err0
errOAAI
errEhrenberg, Miriam; Avraham, Maayan; Asodu, Sandeep Sarma; Moye, Abigail R.; Sangermano, Riccardo; Rizel, Leah; Ali-Nasser, Tahleel; Sher, Ifat; Gurwitz, David; Chao, Katherine R.; Rivera, Antonio; Webster, Andrew R.; Rivolta, Carlo; Newman, Hadas; Pras, Eran; Rotenstreich, Ygal; Banin, Eyal; Pierce, Eric A.; Zur, Dinah; Arno, Gavin; Bujakowska, Kinga M.; Lin, Siying; Sharon, Dror; Ben-Yosef, Tamar
err分享
err收藏
Identification of new families and variants in autosomal dominant macular dystrophy associated with THRB与THRB相关的常染色体显性黄斑变性的新家系和变异体的鉴定
errSCIENTIFIC REPORTS
IF3.9
err2025-04-28
err0
errOAAI
errFernandez-Caballero, Lidia; Blanco-Kelly, Fiona; Swafiri, Saoud Tahsin; Martin-Merida, Maria Inmaculada; Quinodoz, Mathieu; Ullah, Mukhtar; Carreno, Ester; Martin-Gutierrez, Maria Pilar; Garcia-Sandoval, Blanca; Minguez, Pablo; Rivolta, Carlo; Corton, Marta; Ayuso, Carmen
err分享
err收藏
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2025-04-01
err0
errOAAI
errKaminska, Karolina; Cancellieri, Francesca; Quinodoz, Mathieu; Moye, Abigail R.; Bauwens, Miriam; Lin, Siying; Janeschitz-Kriegl, Lucas; Hayman, Tamar; Barberan-Martinez, Pilar; Schlaeger, Regina; van den Broeck, Filip; Fernandez, Almudena Avila; Fernandez-Caballero, Lidia; Perea-Romero, Irene; Garcia-Garcia, Gema; Salom, David; Mazzola, Pascale; Zuleger, Theresia; Poths, Karin; Haack, Tobias B.; Jacob, Julie; Vermeer, Sascha; Terbeek, Frederique; Feltgen, Nicolas; Moulin, Alexandre P.; Koutroumanou, Louisa; Papadakis, George; Browning, Andrew C.; Madhusudhan, Savita; Granse, Lotta; Banin, Eyal; Sousa, Ana Berta; Santos, Luisa Coutinho; Kuehlewein, Laura; De Angeli, Pietro; Leroy, Bart P.; Mahroo, Omar A.; Sedgwick, Fay; Eden, James; Pfau, Maximilian; Andreasson, Sten; Scholl, Hendrik P. N.; Ayuso, Carmen; Millan, Jose M.; Sharon, Dror; Tsilimbaris, Miltiadis K.; Vaclavik, Veronika; Tran, Hoai, V; Ben-Yosef, Tamar; De Baere, Elfride; Webster, Andrew R.; Arno, Gavin; Sergouniotis, Panagiotis I.; Kohl, Susanne; Santos, Cristina; Rivolta, Carlo
err分享
err收藏
A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models
errHUMAN MOLECULAR GENETICS
IF3.2
err2025-03-01
err0
errOAAI
errCorral-Serrano, Julio C.; Vaclavik, Veronika; van de Sompele, Stijn; Kaminska, Karolina; Jovanovic, Katarina; Escher, Pascal; van den Broeck, Filip; Cancellieri, Francesca; Toulis, Vasileios; Leroy, Bart P.; de Zaeytijd, Julie; You, Zhixuan; Ottaviani, Daniele; Quinodoz, Mathieu; Bordeanu, Gabriela; Hardcastle, Alison J.; Coppieters, Frauke; Tran, Viet H.; Cheetham, Michael E.; Rivolta, Carlo; De Baere, Elfride
err分享
err收藏
Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal DystrophiesCRB1-Associated遗传性视网膜营养不良患者血浆补体因子升高
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2025-02-21
err1
errOAAI
errMoekotte, Lude; Boer, Joke H. de; Hiddingh, Sanne; de Ligt, Aafke; Nguyen, Xuan-Thanh-An; Hoyng, Carel B.; Inglehearn, Chris F.; Mckibbin, Martin; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; Mclaren, Terri L.; Altalbishi, Alaa; Panneman, Daan M.; Boonen, Erica G. M.; Banfi, Sandro; Bocquet, Beatrice; Meunier, Isabelle; De Baere, Elfride; Koenekoop, Robert; Oldak, Monika; Rivolta, Carlo; Roberts, Lisa; Ramesar, Raj; Strupaite-Sileikiene, Rasa; Kohl, Susanne; Farrar, G. Jane; van Vugt, Marion; van Setten, Jessica; Roosing, Susanne; van den Born, L. Ingeborgh; Boon, Camiel J. F.; Genderen, Maria M. van; Kuiper, Jonas J. W.
err分享
err收藏
Generation of a Double Reporter mES Cell Line to Simultaneously Trace the Generation of Retinal Progenitors and Photoreceptors
errCELLS
IF5.2
err2025-02-10
err0
errOAAI
errZabiegalov, Oleksandr; Berger, Adeline; Kamdar, Dhryata; Adamou, Kabirou; Tian, Chuanxi; Mbefo, Martial; Quinodoz, Mathieu; Udry, Florian; Rivolta, Carlo; Kostic, Corinne; Arsenijevic, Yvan
err分享
err收藏
Topography of Slowed Dark Adaptation in Pseudoxanthoma Elasticum: PROPXE Study Report 1
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2025-02-06
err0
errOAAI
errPfau, Kristina; Ansari, Georg; Michels, Stephan; Dysli, Chantal; Liakopoulos, Sandra; Burghaus-Zhang, Jana; Al-Sheikh, Mayss; Garweg, Justus G.; Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Rivolta, Carlo; Terry, Sharon F.; Feltgen, Nicolas; Pfau, Maximilian
err分享
err收藏
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-12-13
err1
errOAAI
errKarali, Marianthi; Garcia-Garcia, Gema; Kaminska, Karolina; Altalbishi, Alaa; Cancellieri, Francesca; Testa, Francesco; Barillari, Maria Rosaria; Panagiotou, Evangelia S.; Psillas, George; Vaclavik, Veronika; Tran, Viet H.; Janeschitz-Kriegl, Lucas; Scholl, Hendrik P. N.; Salameh, Manar; Barberan-Martinez, Pilar; Rodriguez-Munoz, Ana; Armengot, Miguel; Scarpato, Margherita; Zeuli, Roberta; Quinodoz, Mathieu; Simonelli, Francesca; Rivolta, Carlo; Banfi, Sandro; Millan, Jose M.
err分享
err收藏
De novo variants in LRRC8C resulting in constitutive channel activation cause a human multisystem disorder
errEMBO JOURNAL
IF8.3
err2024-12-02
err0
PREAI
errQuinodoz, Mathieu; Rutz, Sonja; Peter, Virginie; Garavelli, Livia; Innes, A. Micheil; Lehmann, Elena F.; Kellenberger, Stephan; Peng, Zhong; Barone, Angelica; Campos-Xavier, Belinda; Unger, Sheila; Rivolta, Carlo; Dutzler, Raimund; Superti-Furga, Andrea
err分享
err收藏
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
errNATURE COMMUNICATIONS
IF15.7
err2024-11-21
err0
errOAAI
errZanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar-Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange-Line; Costet-Fighiera, Christine; Santos, Luisa Coutinho; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip-Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sa, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa-Luis, Rui; Thauvin-Robinet, Christel; van Dijk, Erwin L.; Zaafrane-Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean-Michel; Perrault, Isabelle
err分享
err收藏
The Mutscore metapredictor: a new application of artificial intelligence in cardiogenetics
errEUROPEAN HEART JOURNAL
IF35.6
err2024-10-28
err0
PREAI
errPorretta, A.; Fressart, V; Denjoy, I; Morgat, C.; Surget, E.; Messali, A.; Algalarrondo, V; Vedrenne, G.; Pruvot, E.; Quinodoz, M.; Rivolta, C.; Leenhardt, A.; Extramiana, F.
err分享
err收藏
Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-10-01
err1
errOAAI
errIglesias-Romero, Ana Belen; Kaminska, Karolina; Quinodoz, Mathieu; Folcher, Marc; Lin, Siying; Arno, Gavin; Calado, Joaquim; Webster, Andrew R.; Moulin, Alexandre; Sousa, Ana Berta; Coutinho-Santos, Luisa; Santos, Cristina; Rivolta, Carlo
err分享
err收藏
Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-09-01
err1
errOAAI
errMalka, Samantha; Biswas, Pooja; Berry, Anne-Marie; Sangermano, Riccardo; Ullah, Mukhtar; Lin, Siying; D'Antonio, Matteo; Jestin, Aleksandr; Jiao, Xiaodong; Quinodoz, Mathieu; Sullivan, Lori; Gardner, Jessica C.; Place, Emily M.; Michaelides, Michel; Kaminska, Karolina; Mahroo, Omar A.; Schiff, Elena; Wright, Genevieve; Cancellieri, Francesca; Vaclavik, Veronika; Santos, Cristina; Rehman, Atta Ur; Mehrotra, Sudeep; Baig, Hafiz Muhammad Azhar; Iqbal, Muhammad; Nsar, Muhammad A.; Santos, Luisa Coutinho; Sousa, Ana Berta; Tran, Viet H.; Matsui, Hiroko; Bhatia, Anjana; Naeem, Muhammad Asif; Akram, Shehla J.; Akram, Javed; Riazuddin, Sheikh; Ayuso, Carmen; Pierce, Eric A.; Hardcastle, Alison J.; Riazuddin, S. Amer; Frazer, Kelly A.; Hejtmancik, J. Fielding; Rivolta, Carlo; Bujakowska, Kinga M.; Arno, Gavin; Webster, Andrew R.; Ayyagari, Radha
err分享
err收藏
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
errJCI INSIGHT
IF6.1
err2024-08-01
err0
errOAAI
errFellmann, Florence; Saunders, Carol; O'Donohue, Marie-Francoise; Reid, David W.; Mcfadden, Kelsey A.; Montel-Lehry, Nathalie; Yu, Cong; Fang, Mingyan; Zhang, Jianguo; Royer-Bertrand, Beryl; Farinelli, Pietro; Karboul, Narjesse; Willer, Jason R.; Fievet, Lorraine; Bhuiyan, Zahurul Alam; Kleinhenz, Alissa L. W.; Jadeau, Julie; Fulbright, Joy; Rivolta, Carlo; Renella, Raffaele; Katsanis, Nicholas; Beckmann, Jacques S.; V. Nicchitta, Christopher; Da Costa, Lydie; Davis, Erica E.; Gleizes, Pierre-Emmanuel
err分享
err收藏
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degenerationUBAP1L的功能丧失变异导致常染色体隐性视网膜变性
errGENETICS IN MEDICINE
IF6.2
err2024-06-01
err4
PREAI
errHan, Ji Hoon; Rodenburg, Kim; Hayman, Tamar; Calzetti, Giacomo; Kaminska, Karolina; Quinodoz, Mathieu; Marra, Molly; Wallerich, Sandrine; Allon, Gilad; Nagy, Zoltan Z.; Knezy, Krisztina; Li, Yumei; Chen, Rui; Barboni, Mirella Telles Salgueiro; Yang, Paul; Pennesi, Mark E.; van den Born, L. Ingeborgh; Varsanyi, Balazs; Szabo, Viktoria; Sharon, Dror; Banin, Eyal; Ben-Yosef, Tamar; Roosing, Susanne; Koenekoop, Robert K.; Rivolta, Carlo
err分享
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研究方向

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合作学者
合作期刊
M
Mark I. McCarthy
H 指数: 222 · 论文数: 1.5K
K
Kāri Stefánsson
H 指数: 219 · 论文数: 1.2K
A
Albert Hofman
H 指数: 208 · 论文数: 2.1K
G
Gonçalo R. Abecasis
H 指数: 204 · 论文数: 846
M
Mika Kivimäki
H 指数: 203 · 论文数: 2.1K
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