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B. Puech · SciRah

Researcher profile · Semantic Scholar

B. Puech

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B. Puech — researcher profile on SciRah

h-index: 22
Works: 85
Citations: 1,718

Most-cited papers

Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
J. Yardley, B. Leroy, N. Hart‐Holden, B. Lafaut +13 more
2004Investigative Ophthalmology and Visual Science221 citations Open access
Semantic Scholar
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
R. Sangermano, A. Garanto, Mubeen Khan, E. H. Runhart +26 more
2019Genetics in Medicine183 citations Open access
Semantic Scholar
Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
Mubeen Khan, S. S. Cornelis, M. Del Pozo-Valero, Laura Whelan +71 more
2020Genetics in Medicine125 citations Open access
Semantic Scholar
North Carolina Macular Dystrophy is caused by dysregulation of the retinal transcription factor PRDM13
Kent W. Small, Adam P. DeLuca, S. Whitmore, T. Rosenberg +16 more
2015Ophthalmology (Rochester, Minn.)115 citations Open access
Semantic Scholar
Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.
Jacques L. Michaud, E. Héon, F. Guilbert, J. Weill +8 more
1996Jornal de Pediatria104 citations
Semantic Scholar
[Stargardt's disease and fundus flavimaculatus].
P. Francois, P. Turut, B. Puech, J. Hache
1975Archives d'ophtalmologie et revue generale d'ophtalmologie81 citations
Semantic Scholar
Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.
C. Hamel, I. Meunier, C. Arndt, S. Ben Salah +7 more
2009American journal of ophthalmology-glaucoma75 citations
Semantic Scholar
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 +9 more
2014Human Mutation71 citations Open access
Semantic Scholar
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 +10 more
2014Ophthalmology (Rochester, Minn.)70 citations
Semantic Scholar
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
I. Meunier, A. Sénéchal, C. Dhaenens, C. Arndt +7 more
2011Ophthalmology (Rochester, Minn.)69 citations
Semantic Scholar
North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis.
Kent W. Small, Nitin Udar, Svetlana Yelchits, Ronald Klein +13 more
1999Molecular Vision56 citations
Semantic Scholar
Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy
D. Marchant, K. Gogat, S. Boutboul, M. Péquignot +14 more
2001Human Mutation52 citations Open access
Semantic Scholar
North Carolina macular dystrophy phenotype in France maps to the MCDR1 locus.
Kent W. Small, B. Puech, Lynne M. Mullen, S. Yelchits
1997Molecular Vision51 citations
Semantic Scholar
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease
Mubeen Khan, S. S. Cornelis, M. I. Khan, Duaa Elmelik +16 more
2019Human Mutation49 citations
Semantic Scholar
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
G. Manes, Tremeur Guillaumie, W. L. Vos, A. Devos +26 more
2015American journal of ophthalmology-glaucoma39 citations Open access
Semantic Scholar
Kjellin syndrome: long-term neuro-ophthalmologic follow-up and novel mutations in the SPG11 gene.
B. Puech, A. Lacour, G. Stevanin, B. Sautiere +7 more
2011Ophthalmology (Rochester, Minn.)38 citations
Semantic Scholar
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.
A. Douillard, M. Picot, C. Delcourt, A. Lacroux +30 more
2016Ophthalmology (Rochester, Minn.)33 citations
Semantic Scholar
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
Sophie Scheidecker, S. Hull, Y. Perdomo, Fouzia Studer +12 more
2015American journal of ophthalmology-glaucoma31 citations
Semantic Scholar
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients
A. Douillard, M. Picot, C. Delcourt, S. Defoort-Dhellemmes +32 more
2018Scientific Reports30 citations Open access
Semantic Scholar
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
I. Perrault, S. Hanein, X. Gérard, N. Delphin +13 more
2010Human Mutation30 citations Open access
Semantic Scholar
Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy
E. Lacassagne, Aurore Dhuez, F. Rigaudière, Anouk Dansault +6 more
2011Molecular Vision28 citations
Semantic Scholar
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus
V. Cipriani, R. Silva, G. Arno, Nikolas Pontikos +11 more
2017Scientific Reports26 citations Open access
Semantic Scholar
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
I. Meunier, B. Bocquet, G. Labesse, C. Zeitz +18 more
2016Scientific Reports21 citations Open access
Semantic Scholar
Inherited Chorioretinal Dystrophies
B. Puech, J. de Laey, G. Holder
201420 citations
Semantic Scholar
Identification of the cranium of W.A. Mozart.
P. Puech, B. Puech, Gottfried Tichy
1989Forensic Science International19 citations
Semantic Scholar
Craniofacial dysmorphism in Mozart's skull.
B. Puech, P. Puech, Gottfried Tichy, P. Dhellemmes +1 more
1989Journal of Forensic Sciences14 citations
Semantic Scholar
L'Hérédité en Ophtalmologie
P. François, B. Puech, L. Vallée, J. Hache +4 more
195911 citations Open access
Semantic Scholar
X-shaped macular dystrophy with flavimaculatus flecks.
B. Puech, J. Hache, P. Turut, P. Francois
1989Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde10 citations
Semantic Scholar
Inherited Chorioretinal Dystrophies A Textbook and Atlas
B. Puech, J. de Laey, G. Holder
20148 citations
Semantic Scholar
Long-term follow-up of two patients with oligocone trichromacy
V. Smirnov, I. Drumare, I. Bouacha, B. Puech +1 more
2015Documenta Ophthalmologica5 citations
Semantic Scholar
Maladie de Stargardt et fundus flavimaculatus
P. François, P. Turut, B. Puech, J. Hache
19755 citations
Semantic Scholar
Genetic analysis of new French X-linked juvenile retinoschisis kindreds using microsatellite markers closely linked to the RS locus: further narrowing of the RS candidate region
V. Dumur, E. Trivier, B. Puech, F. Peugnet +3 more
1995Human Genetics4 citations
Semantic Scholar
Extensive Macular Atrophy with Pseudodrusen-Like Appearance
B. Puech, J. de Laey
20143 citations
Semantic Scholar
A Molecular Genetic Investigation of Two Families With Macular Dysplasia in Association With Digit Abnormalities
A. Kalhoro, V. Puech, B. Puech, A. Webster +3 more
20083 citations
Semantic Scholar
[Fundus flavimaculatus of dominant heredity (apropos of 2 families). Nosological considerations on Stargardt's disease].
P. Turut, B. Puech, P. Francois, J. Hache
1975Bulletin des societes d'ophtalmologie de France3 citations
Semantic Scholar
Spectral-Domain Optical Coherence Tomography in Hereditary Retinal Dystrophies
Isabelle Meunier, I. Bouvet-Drumare, X. Zanlonghi, M. Mauget-Faÿsse +5 more
20142 citations Open access
Semantic Scholar
Bietti Crystalline Corneoretinal Dystrophy
B. Puech, J. de Laey, I. Meunier
20142 citations
Semantic Scholar
[Congenital achromatopsia: electroretinogram in early diagnosis].
S. Defoort-Dhellemmes, T. Lebrun, C. Arndt, I. Bouvet-Drumare +3 more
2004Journal Francais d'Ophtalmologie2 citations
Semantic Scholar
[Vitreoretinochoroidal heredo-dystrophy, microcornea, glaucoma and cataract].
P. Francois, B. Puech, J. Hache, Q. Laffineur
1993Journal Francais d'Ophtalmologie2 citations
Semantic Scholar
Diagnosis of Leber's hereditary optic neuropathy without neurological abnormalities.
P. Labalette, J. Hache, B. Hemery, B. Puech +6 more
1992The Lancet2 citations
Semantic Scholar
[Heredity in Stargardt disease and fundus flavimaculatus].
P. Turut, B. Puech
1989Ophtalmologie : organe de la Societe francaise d'ophtalmologie2 citations
Semantic Scholar
[Diagnostic problems in dystrophy of the cones].
P. Francois, B. Puech, J. Hache, T. Amzallag
1989Bulletin des societes d'ophtalmologie de France2 citations
Semantic Scholar
[Congenital achromatopsia and congestive cardiomyopathy].
B. Puech, F. Guilbert, C. Dupuis, G. Brévière
1982Bulletin des societes d'ophtalmologie de France2 citations
Semantic Scholar
CRISPR-derived mouse model of North Carolina Macular Dystrophy reveals in trans tissue-specific upregulation of PRDM13
R. S. Silva, R. Silva, K. Kraft, K. Kraft +16 more
20181 citations
Semantic Scholar
Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities
V. Cipriani, A. Kalhoro, G. Arno, R. Silva +9 more
2017Ophthalmic Genetics1 citations
Semantic Scholar
Retinitis Pigmentosa and Allied Disorders
B. Puech, J. de Laey
20141 citations
Semantic Scholar
Paramacular Choriocapillaris Atrophy
B. Puech, J. de Laey
20141 citations
Semantic Scholar
The “As de Nîmes”, a Roman Coin and the Myth of Antony and Cleopatra: Octavian and Agrippa victorious over Antony
P. Puech, B. Puech, Fernand Puech
20141 citations
Semantic Scholar
Congenital Hypotrichosis with Juvenile Macular Dystrophy
B. Puech, J. de Laey
20141 citations
Semantic Scholar
Subretinal Deposits and Abnormal ERG Findings in Extensive Macular Atrophy With Pseudodrusen-Like Appearance (EMAP)
I. Meunier, S. Lopez, N. Mathe, C. Arndt +4 more
20101 citations
Semantic Scholar

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