PubRank

Marie-Elise Lancelot

Author PubWeight™ 16.60‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2009 1.93
2 Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis 2012 1.79
3 EYS is a major gene for rod-cone dystrophies in France. Hum Mutat 2010 1.39
4 CRB1 mutations in inherited retinal dystrophies. Hum Mutat 2011 1.34
5 Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012 1.25
6 Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012 1.18
7 A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet 2010 1.05
8 Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci 2010 1.05
9 Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC Med Genet 2010 1.03
10 Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein. Int J Mol Sci 2013 0.94
11 A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol Vis 2011 0.90
12 Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. Hum Mutat 2011 0.87
13 Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Hum Mol Genet 2013 0.84
14 An unusual retinal phenotype associated with a novel mutation in RHO. Arch Ophthalmol 2010 0.81
15 The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family. Hum Mol Genet 2013 0.80