J.‐C. Kaplan

Inserm — France

Biochemistry, Genetics and Molecular Biology · Life Sciences

25h-index2.9kcitations95works0.02yr avg
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Research Topics

Muscle Physiology and Disorders(18), Neonatal Health and Biochemistry(12), Methemoglobinemia and Tumor Lysis Syndrome(8), Neurogenetic and Muscular Disorders Research(7), Neonatal Respiratory Health Research(5)

Publications95 total

Is the modification of the 13q32.1 regulatory landscape the cause of congenital microcoria?
Acta Ophthalmologica·2018· 1 cited
Implication of non-coding PAX6 mutations in aniridia
Human Genetics·2018· 54 cited
<i>FOXE3</i> mutations: genotype‐phenotype correlations
Clinical Genetics·2017· 35 cited
Genetics in microphthalmia
Acta Ophthalmologica·2016
Specific gene in microphthalmia
Acta Ophthalmologica·2016
G.P.75 Variable phenotype of del45–55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation
Neuromuscular Disorders·2012· 20 cited
P2.49 Myopathies with mutations in anoctamin 5: Phenotype and gene mutations in a French cohort
Neuromuscular Disorders·2011· 3 cited
Leber Congenital Amaurosis Associated With Abnormalities of Respiratory Cilia
2010
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
PubMed·2010· 3 cited
Candidate Genes Study in Aged-Related Macular Degeneration (amd) in Patients Who Do Not Carry the at-Risk Alleles for Cfh and Loc387715 Genes
Investigative Ophthalmology & Visual Science·2009
G.P.1.15 Clinical description and molecular analysis of a promising model of DMD, the LRMD dog
Neuromuscular Disorders·2007· 1 cited
Pilot Study of Patients Affected With Leber Congenital Amaurosis (LCA) Clinically Selected With Regard to the Previously Established Genotype–Phenotype Correlations
Investigative Ophthalmology & Visual Science·2006
Author Index Vol. 112, 2006
Cytogenetic and Genome Research·2006Open Access
A Third Locus for Dominant Optic Atrophy on Chromosome 22q
Investigative Ophthalmology & Visual Science·2005· 2 cited
Génomique et médecine: réflexions prospectives. De la génétique booléeene des lois de Mendel à une médecine moléculaire multifactorielle.
Comptes Rendus Biologies·2000· 14 cited
Neuromuscular disorders: gene location.Vol. 10 No. 2, February 2000.
PubMed·2000
Analysis of the Complete Coding Region of the CFTR Gene in Ten Algerian Cystic Fibrosis Families
Human Heredity·1999· 12 cited
β-Sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
Neuromuscular Disorders·1998· 54 cited
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).
Journal of Medical Genetics·1997· 115 citedOpen Access
Des mutations retrouvées pour la première fois dans une guanylyl cyclase (RetGC) responsables d'une cécité néo-natale : l'amaurose congénitale de Leber
médecine/sciences·1997· 2 cited
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Frequent Co-authors

H.F. Willard(19), M.H. Skolnick(15), J.-L. Mandel(15), K. Kidd(12), P. Pearson(9), J.-M. Lalouel(7), Robert Miller(7), Dominique Récan(6), Michel Fardeau(6), Jamel Chelly(6), P. Pearson(6), Hélène Gilgenkrantz(5), Marc Jeanpierre(5), M. Lambert(5), M. Anne Spence(5), P.J. McAlpine(5), A.J. Pakstis(5), D.R. Cox(5), N.E. Morton(5), A. de la Chapelle(4)