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V

Virginie G. Peter

Institute of Molecular and Clinical Ophthalmology Basel
H指数:13
被引数:635

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RetiGene, a comprehensive gene atlas for inherited retinal diseases

RetiGene，一种全面的遗传性视网膜疾病基因图谱

american journal of human genetics
IF0
2025-09-160
OAAI
Carlo 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
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-04-016
OAAI
Quinodoz, Mathieu; Kaminska, Karolina; Cancellieri, Francesca; Han, Ji Hoon; Peter, Virginie G.; Celik, Elifnaz; Janeschitz-Kriegl, Lucas; Schaerer, Nils; Hauenstein, Daniela; Gyoergy, Bence; Calzetti, Giacomo; Hahaut, Vincent; Custodio, Sonia; Sousa, Ana Cristina; Wada, Yuko; Murakami, Yusuke; Fernandez, Almudena Avila; Hernandez, Cristina Rodilla; Minguez, Pablo; Ayuso, Carmen; Nishiguchi, Koji M.; Santos, Cristina; Santos, Luisa Coutinho; Tran, Viet H.; Vaclavik, Veronika; Scholl, Hendrik P. N.; Rivolta, Carlo
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
IF6.2
2019-12-0137
OAAI
Peter, Virginie G.; Quinodoz, Mathieu; Pinto-Basto, Jorge; Sousa, Sergio B.; Di Gioia, Silvio Alessandro; Soares, Gabriela; Leal, Gabriela Ferraz; Silva, Eduardo D.; Gobert, Rosanna Pescini; Miyake, Noriko; Matsumoto, Naomichi; Engle, Elizabeth C.; Unger, Sheila; Shapiro, Frederic; Superti-Furga, Andrea; Rivolta, Carlo; Campos-Xavier, Belinda
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice
PLOS GENETICS
IF3.7
2019-08-1922
OAAI
Moye, Abigail R.; Bedoni, Nicola; Cunningham, Jessica G.; Sanzhaeva, Urikhan; Tucker, Eric S.; Mathers, Peter; Peter, Virginie G.; Quinodoz, Mathieu; Paris, Liliana P.; Coutinho-Santos, Luisa; Camacho, Pedro; Purcell, Madeleine G.; Winkelmann, Abbie C.; Foster, James A.; Pugacheva, Elena N.; Rivolta, Carlo; Ramamurthy, Visvanathan

研究方向

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C
Carlo Rivolta
H 指数:55论文数:292被引数:1.9万
M
Mathieu Quinodoz
H 指数:25论文数:111被引数:4,613
L
Luísa Coutinho Santos
H 指数:10论文数:23被引数:660
A
Andrea Superti‐Furga
H 指数:83论文数:732被引数:2.6万
A
Ana Berta Sousa
H 指数:20论文数:90被引数:1,702
K
Katarina Cisarova
H 指数:12论文数:25被引数:902
F
Francesca Cancellieri
H 指数:8论文数:25被引数:196
S
Sheila Unger
H 指数:54论文数:423被引数:9,722
K
Karolina Kamińska
H 指数:9论文数:36被引数:220
R
Rosanna Pescini Gobert
H 指数:17论文数:22被引数:1,202