I. Meunier's Profile

Role	Title	Level	Year	L/R
🐜	Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides 30 auth. R. Sangermano, A. Garanto, Mubeen Khan, E. H. Runhart, M. Bauwens, Nathalie M. Bax, L. I. Born, M. I. Khan, S. S. Cornelis, J. Verheij, J. W. Pott, A. Thiadens, C. Klaver, B. Puech, I. Meunier, ... Sarah Naessens, G. Arno, A. Fakin, K. Carss, F. Raymond, A. Webster, C. Dhaenens, H. Stöhr, F. Grassmann, B. H. Weber, C. Hoyng, E. Baere, Silvia Albert, R. Collin, F. Cremers	7	2019	7 🐜
🐜	Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics 75 auth. Mubeen Khan, S. S. Cornelis, M. Del Pozo-Valero, Laura Whelan, E. H. Runhart, Ketan Mishra, Femke Bults, Yahya Alswaiti, Alaa AlTabishi, E. de Baere, S. Banfi, E. Banin, M. Bauwens, T. Ben-Yosef, C. Boon, ... L. I. van den Born, S. Defoort, A. Devos, A. Dockery, L. Dudakova, A. Fakin, G. Farrar, J. F. Ferraz Sallum, K. Fujinami, C. Gilissen, D. Glavač, M. Gorin, J. Greenberg, Takaaki Hayashi, Y. Hettinga, A. Hoischen, C. Hoyng, K. Hufendiek, H. Jägle, S. Kamakari, M. Karali, U. Kellner, C. Klaver, B. Kousal, Tina M. Lamey, I. MacDonald, A. Matynia, Terri L. McLaren, M. Mena, I. Meunier, Rianne Miller, Hadas Newman, Buhle Ntozini, M. Ołdak, Marc Pieterse, O. Podhajcer, B. Puech, R. Ramesar, K. Rüther, Manar Salameh, M. V. Salles, D. Sharon, F. Simonelli, G. Spital, M. Steehouwer, J. Szaflik, Jennifer A. Thompson, C. Thuillier, A. Tracewska, M. van Zweeden, A. Vincent, X. Zanlonghi, P. Lišková, H. Stöhr, J. D. De Roach, C. Ayuso, L. Roberts, B. Weber, C. Dhaenens, F. Cremers	6	2020	6 🐜
🐜	Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission 26 auth. S. Gerber, M. Charif, A. Chevrollier, Tanguy Chaumette, Claire Angebault, M. Kane, A. Paris, Jennifer Alban, Mélanie Quilès, C. Delettre, D. Bonneau, V. Procaccio, P. Amati‐Bonneau, P. Reynier, S. Leruez, ... R. Calmon, N. Boddaert, B. Funalot, M. Rio, D. Bouccara, I. Meunier, H. Sesaki, J. Kaplan, C. Hamel, J. Rozet, G. Lenaers	6	2017	6 🐜
🐜	Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. 12 auth. B. Polok, P. Escher, A. Ambresin, E. Chouery, S. Bolay, I. Meunier, ... Francis Nan, C. Hamel, F. Munier, Bernard Thilo, A. Mégarbané, D. Schorderet	6	2009	6 🐜
🐜	Mutations in IMPG1 cause vitelliform macular dystrophies. 28 auth. G. Manes, I. Meunier, A. Avila-Fernandez, S. Banfi, G. Le Meur, X. Zanlonghi, M. Cortón, F. Simonelli, P. Brabet, G. Labesse, I. Audo, S. Mohand-Said, C. Zeitz, J. Sahel, M. Weber, ... H. Dollfus, C. Dhaenens, D. Allorge, E. de Baere, R. Koenekoop, S. Kohl, F. Cremers, J. Hollyfield, A. Sénéćhal, M. Hebrard, B. Bocquet, C. Ayuso García, C. Hamel	6	2013	6 🐜
🐜	Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots 13 auth. D. Baux, C. Blanchet, C. Hamel, I. Meunier, L. Larrieu, V. Faugère, C. Vaché, P. Castorina, B. Puech, D. Bonneau, ... S. Malcolm, M. Claustres, A. Roux	6	2014	6 🐜
🦁	Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. 11 auth. I. Meunier, A. Sénéćhal, C. Dhaenens, C. Arndt, B. Puech, S. Defoort‐Dhellemmes, ... G. Manes, D. Chazalette, E. Mazoir, B. Bocquet, C. Hamel	5	2011	5 🦁
🦁	Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes. 14 auth. I. Meunier, G. Manes, B. Bocquet, V. Marquette, C. Baudoin, B. Puech, S. Defoort‐Dhellemmes, I. Audo, R. Verdet, C. Arndt, ... X. Zanlonghi, G. Le Meur, C. Dhaenens, C. Hamel	5	2014	5 🦁
🐜	Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity. 11 auth. C. Hamel, I. Meunier, C. Arndt, S. Ben Salah, S. Lopez, C. Bazalgette, ... C. Bazalgette, X. Zanlonghi, B. Arnaud, S. Defoort-Dellhemmes, B. Puech	5	2009	5 🐜