Items where Author is "Ascari, Giulia"

2020

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.

2016

Coppieters, Frauke and Ascari, Giulia and Dannhausen, Katharina and Nikopoulos, Konstantinos and Peelman, Frank and Karlstetter, Marcus and Xu, Mingchu and Brachet, Cécile and Meunier, Isabelle and Tsilimbaris, Miltiadis K. and Tsika, Chrysanthi and Blazaki, Styliani V. and Vergult, Sarah and Farinelli, Pietro and Van Laethem, Thalia and Bauwens, Miriam and De Bruyne, Marieke and Chen, Rui and Langmann, Thomas and Sui, Ruifang and Meire, Françoise and Rivolta, Carlo and Hamel, Christian P. and Leroy, Bart P. and De Baere, Elfride. (2016) Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. American Journal of Human Genetics, 99 (2). pp. 470-480.

2014

Benaglio, Paola and San Jose, Patricia Fernandez and Avila-Fernandez, Almudena and Ascari, Giulia and Harper, Shyana and Manes, Gaël and Ayuso, Carmen and Hamel, Christian and Berson, Eliot L. and Rivolta, Carlo. (2014) Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa. Molecular vision, 20. pp. 843-851.

Hoggart, Clive J. and Venturini, Giulia and Mangino, Massimo and Gomez, Felicia and Ascari, Giulia and Zhao, Jing Hua and Teumer, Alexander and Winkler, Thomas W. and Tšernikova, Natalia and Luan, Jian'an and Mihailov, Evelin and Ehret, Georg B. and Zhang, Weihua and Lamparter, David and Esko, Tõnu and Macé, Aurelien and Rüeger, Sina and Bochud, Pierre-Yves and Barcella, Matteo and Dauvilliers, Yves and Benyamin, Beben and Evans, David M. and Hayward, Caroline and Lopez, Mary F. and Franke, Lude and Russo, Alessia and Heid, Iris M. and Salvi, Erika and Vendantam, Sailaja and Arking, Dan E. and Boerwinkle, Eric and Chambers, John C. and Fiorito, Giovanni and Grallert, Harald and Guarrera, Simonetta and Homuth, Georg and Huffman, Jennifer E. and Porteous, David and Generation Scotland Consortium, and LifeLines Cohort study, and Giant Consortium, and Moradpour, Darius and Iranzo, Alex and Hebebrand, Johannes and Kemp, John P. and Lammers, Gert J. and Aubert, Vincent and Heim, Markus H. and Martin, Nicholas G. and Montgomery, Grant W. and Peraita-Adrados, Rosa and Santamaria, Joan and Negro, Francesco and Schmidt, Carsten O. and Scott, Robert A. and Spector, Tim D. and Strauch, Konstantin and Völzke, Henry and Wareham, Nicholas J. and Yuan, Wei and Bell, Jordana T. and Chakravarti, Aravinda and Kooner, Jaspal S. and Peters, Annette and Matullo, Giuseppe and Wallaschofski, Henri and Whitfield, John B. and Paccaud, Fred and Vollenweider, Peter and Bergmann, Sven and Beckmann, Jacques S. and Tafti, Mehdi and Hastie, Nicholas D. and Cusi, Daniele and Bochud, Murielle and Frayling, Timothy M. and Metspalu, Andres and Jarvelin, Marjo-Riitta and Scherag, André and Smith, George Davey and Borecki, Ingrid B. and Rousson, Valentin and Hirschhorn, Joel N. and Rivolta, Carlo and Loos, Ruth J. F. and Kutalik, Zoltán. (2014) Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. PLoS Genetics, 10 (7). e1004508.