| A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family S Abdelhak, V Kalatzis, R Heilig, S Compain, D Samson, C Vincent, ... Nature genetics 15 (2), 157-164, 1997 | 731 | 1997 |
| Cystinosin, the protein defective in cystinosis, is a H+‐driven lysosomal cystine transporter V Kalatzis, S Cherqui, C Antignac, B Gasnier The EMBO journal, 2001 | 357 | 2001 |
| Clustering of Mutations Responsible for Branchio-Oto-Renal (BOR) Syndrome in the Eyes Absent Homologous Region (eyaHR) of EYA1 S Abdelhak, V Kalatzis, R Heilig, S Compain, D Samson, C Vincent, ... Human molecular genetics 6 (13), 2247-2255, 1997 | 281 | 1997 |
| The fundamental and medical impacts of recent progress in research on hereditary hearing loss V Kalatzis, C Petit Human molecular genetics 7 (10), 1589-1597, 1998 | 199 | 1998 |
| Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis S Cherqui, C Sevin, G Hamard, V Kalatzis, M Sich, MO Pequignot, ... Molecular and cellular biology 22 (21), 7622-7632, 2002 | 192 | 2002 |
| The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif S Cherqui, V Kalatzis, G Trugnan, C Antignac Journal of Biological Chemistry 276 (16), 13314-13321, 2001 | 166 | 2001 |
| Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin V Kalatzis, N Nevo, S Cherqui, B Gasnier, C Antignac Human molecular genetics 13 (13), 1361-1371, 2004 | 152 | 2004 |
| BOR and BO syndromes are allelic defects of EYA1 C Vincent, V Kalatzis, S Abdelhak, H Chaïb, S Compain, J Helias, ... European Journal of Human Genetics 5 (4), 242-246, 1997 | 149 | 1997 |
| The Cell Adhesion Molecule “CAR” and Sialic Acid on Human Erythrocytes Influence Adenovirus In Vivo Biodistribution E Seiradake, D Henaff, H Wodrich, O Billet, M Perreau, C Hippert, ... PLoS pathogens 5 (1), e1000277, 2009 | 138 | 2009 |
| Eya1 expression in the developing ear and kidney: Towards the understanding of the pathogenesis of branchio‐oto‐renal (BOR) syndrome V Kalatzis, I Sahly, A El‐Amraoui, C Petit Developmental dynamics: an official publication of the American Association …, 1998 | 130 | 1998 |
| Renal phenotype of the cystinosis mouse model is dependent upon genetic background N Nevo, M Chol, A Bailleux, V Kalatzis, L Morisset, O Devuyst, MC Gubler, ... Nephrology Dialysis Transplantation 25 (4), 1059-1066, 2010 | 107 | 2010 |
| A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications … C Vincent, V Kalatzis, S Compain, J Levilliers, R Slim, F Graia, ML Pereira, ... Human molecular genetics 3 (10), 1859-1866, 1994 | 106 | 1994 |
| The gene for the human IgA Fc receptor maps to 19q13. 4 EJ Kremer, V Kalatzis, E Baker, DF Callen, GR Sutherland, ... Human genetics 89, 107-108, 1992 | 86 | 1992 |
| Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model M Moosajee, D Tracey-White, M Smart, M Weetall, S Torriano, V Kalatzis, ... Human molecular genetics 25 (16), 3416-3431, 2016 | 81 | 2016 |
| Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient N Cereso, MO Pequignot, L Robert, F Becker, V De Luca, N Nabholz, ... Molecular Therapy-Methods & Clinical Development 1, 2014 | 77 | 2014 |
| New aspects of the pathogenesis of cystinosis V Kalatzis, C Antignac Pediatric Nephrology 18, 207-215, 2003 | 72 | 2003 |
| Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis V Kalatzis, L Cohen‐Solal, B Cordier, Y Frishberg, M Kemper, ... Human mutation 20 (6), 439-446, 2002 | 69 | 2002 |
| Genome editing in patient iPSCs corrects the most prevalent USH2A mutations and reveals intriguing mutant mRNA expression profiles C Sanjurjo-Soriano, N Erkilic, D Baux, D Mamaeva, CP Hamel, I Meunier, ... Molecular Therapy-Methods & Clinical Development 17, 156-173, 2020 | 64 | 2020 |
| Cystinosis: from gene to disease V Kalatzis, C Antignac Nephrology Dialysis Transplantation 17 (11), 1883-1886, 2002 | 60 | 2002 |
| Genome-editing as a treatment for the most prevalent causative genes of autosomal dominant retinitis pigmentosa M Diakatou, G Manes, B Bocquet, I Meunier, V Kalatzis Int J Mol Sci 20, 2542, 2019 | 58 | 2019 |
