| Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC) J Yardley, BP Leroy, N Hart-Holden, BA Lafaut, B Loeys, LM Messiaen, ... Investigative ophthalmology & visual science 45 (10), 3683-3689, 2004 | 234 | 2004 |
| L'hérédité en ophtalmologie P FRANCOIS, B PUECH, L VALLEE, JC HACHE, ... La Clinique ophtalmologique, 1988 | 160 | 1988 |
| Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides R Sangermano, A Garanto, M Khan, EH Runhart, M Bauwens, NM Bax, ... Genetics in Medicine 21 (8), 1751-1760, 2019 | 128 | 2019 |
| Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy JL Michaud, E Héon, F Guilbert, J Weill, B Puech, L Benson, JF Smallhorn, ... The Journal of pediatrics 128 (2), 225-229, 1996 | 119 | 1996 |
| North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13 KWSAPDLSSWTRRSGNUBPCAG Thomas Ophthalmology 123, 9-18, 2016 | 98 | 2016 |
| Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics M Khan, SS Cornelis, MD Pozo-Valero, L Whelan, EH Runhart, K Mishra, ... Genetics in Medicine 22 (7), 1235-1246, 2020 | 79 | 2020 |
| Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis I Meunier, A Sénéchal, CM Dhaenens, C Arndt, B Puech, ... Ophthalmology 118 (6), 1130-1136, 2011 | 66 | 2011 |
| Enrichment of LOVD‐USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots D Baux, C Blanchet, C Hamel, I Meunier, L Larrieu, V Faugère, C Vaché, ... Human mutation 35 (10), 1179-1186, 2014 | 63 | 2014 |
| Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes I Meunier, G Manes, B Bocquet, V Marquette, C Baudoin, B Puech, ... Ophthalmology 121 (12), 2406-2414, 2014 | 62 | 2014 |
| Epidemiology and prevalence of hereditary retinal dystrophies in the Northern France B Puech, B Kostrubiec, JC Hache, P Francois Journal francais d'ophtalmologie 14 (3), 153-164, 1991 | 62 | 1991 |
| North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus KW Small, B Puech, L Mullen, S Yelchits Mol Vis 3 (1), 1997 | 58 | 1997 |
| North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis KW Small, N Udar, S Yelchits, R Klein, C Garcia, G Gallardo, B Puech, ... Mol Vis 5, 38, 1999 | 53 | 1999 |
| Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy D Marchant, K Gogat, S Boutboul, M Pequignot, C Sternberg, P Dureau, ... Human mutation 17 (3), 235-235, 2001 | 52 | 2001 |
| Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype I Perrault, S Hanein, X Gerard, N Delphin, L Fares‐Taie, S Gerber, ... Human mutation 31 (3), E1241-E1250, 2010 | 38 | 2010 |
| Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity CP Hamel, I Meunier, C Arndt, SB Salah, S Lopez, C Bazalgette, ... American journal of ophthalmology 147 (4), 609-620, 2009 | 38 | 2009 |
| Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease M Khan, SS Cornelis, MI Khan, D Elmelik, E Manders, S Bakker, R Derks, ... Human Mutation 40 (10), 1749-1759, 2019 | 36 | 2019 |
| High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features G Manes, T Guillaumie, WL Vos, A Devos, I Audo, C Zeitz, V Marquette, ... American journal of ophthalmology 159 (2), 302-314, 2015 | 34 | 2015 |
| Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene B Puech, A Lacour, G Stevanin, BG Sautiere, D Devos, C Depienne, ... Ophthalmology 118 (3), 564-573, 2011 | 34 | 2011 |
| Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy E Lacassagne, A Dhuez, F Rigaudière, A Dansault, C Vêtu, K Bigot, ... Molecular vision 17, 309, 2011 | 30 | 2011 |
| Identification of the cranium of WA Mozart PF Puech, B Puech, G Tichy Forensic science international 41 (1-2), 101-110, 1989 | 29 | 1989 |
Anthony MooreUCL Institute of OphthalmologyVerified email at ucsf.edu
