PubRank

Shomi S Bhattacharya

Author PubWeight™ 132.68‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008 15.30
2 A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet 2009 3.36
3 Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet 2010 3.20
4 Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol 2004 2.85
5 Fox's in development and disease. Trends Genet 2003 2.80
6 EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet 2008 2.46
7 Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet 2002 2.34
8 TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2009 1.93
9 NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet 2012 1.86
10 Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Invest Ophthalmol Vis Sci 2003 1.85
11 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
12 Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci 2004 1.69
13 Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet 2006 1.63
14 Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. Hum Mutat 2009 1.60
15 Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet 2009 1.52
16 Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene. Invest Ophthalmol Vis Sci 2005 1.42
17 Novel mutations in MERTK associated with childhood onset rod-cone dystrophy. Mol Vis 2010 1.41
18 EYS is a major gene for rod-cone dystrophies in France. Hum Mutat 2010 1.39
19 A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Mol Vis 2006 1.38
20 CRB1 mutations in inherited retinal dystrophies. Hum Mutat 2011 1.34
21 Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet 2007 1.33
22 Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat 2010 1.26
23 The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations. Arch Ophthalmol 2004 1.25
24 Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012 1.25
25 Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci 2010 1.24
26 CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS Genet 2012 1.24
27 Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy. Hum Mutat 2007 1.23
28 Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene. Invest Ophthalmol Vis Sci 2005 1.22
29 A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene. Hum Genet 2001 1.22
30 Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet 2004 1.22
31 An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. Invest Ophthalmol Vis Sci 2007 1.21
32 Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet 2002 1.20
33 Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet 2012 1.18
34 An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders. Genomics 2002 1.15
35 Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2007 1.13
36 Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype. Int J Epidemiol 2012 1.12
37 A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p. Hum Genet 2005 1.12
38 Dominant cataract formation in association with a vimentin assembly disrupting mutation. Hum Mol Genet 2009 1.12
39 Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Hum Mol Genet 2002 1.11
40 Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online. Hum Mutat 2007 1.10
41 A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy. Invest Ophthalmol Vis Sci 2002 1.10
42 Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice. Proc Natl Acad Sci U S A 2010 1.10
43 Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects. Vision Res 2006 1.06
44 Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci 2010 1.05
45 Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions. Invest Ophthalmol Vis Sci 2002 1.05
46 Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction. Invest Ophthalmol Vis Sci 2006 1.04
47 Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans. Mol Vis 2010 1.03
48 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
49 Copy-number variations in EYS: a significant event in the appearance of arRP. Invest Ophthalmol Vis Sci 2011 1.01
50 TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum Mol Genet 2010 1.01
51 Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma. Hum Genet 2002 1.00
52 Molecular genetics of retinitis pigmentosa in two Romani (Gypsy) families. Mol Vis 2006 0.98
53 Novel anterior segment phenotypes resulting from forkhead gene alterations: evidence for cross-species conservation of function. Invest Ophthalmol Vis Sci 2003 0.97
54 Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. Hum Mol Genet 2007 0.96
55 RDH12 retinopathy: novel mutations and phenotypic description. Mol Vis 2011 0.96
56 Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy. Invest Ophthalmol Vis Sci 2002 0.95
57 Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Invest Ophthalmol Vis Sci 2009 0.94
58 Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci 2011 0.94
59 Disease-causing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein. Int J Mol Sci 2013 0.94
60 Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8. Invest Ophthalmol Vis Sci 2011 0.92
61 Derivation of cerebellar neurons from human pluripotent stem cells. Curr Protoc Stem Cell Biol 2012 0.92
62 The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. Eur J Hum Genet 2002 0.91
63 Developmental expression profile of the optic atrophy gene product: OPA1 is not localized exclusively in the mammalian retinal ganglion cell layer. Invest Ophthalmol Vis Sci 2004 0.91
64 RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Hum Mutat 2011 0.90
65 High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation. PLoS One 2012 0.90
66 A novel 1-bp deletion in PITX3 causing congenital posterior polar cataract. Mol Vis 2011 0.90
67 A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP). Biochim Biophys Acta 2006 0.89
68 Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. Biomed Res Int 2013 0.89
69 Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. Eur J Hum Genet 2013 0.88
70 A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). J Glaucoma 2007 0.88
71 The Roles of PAX6 and SOX2 in Myopia: lessons from the 1958 British Birth Cohort. Invest Ophthalmol Vis Sci 2007 0.88
72 Study of p.N247S KERA mutation in a British family with cornea plana. Mol Vis 2007 0.88
73 Hypoxia enhances the generation of retinal progenitor cells from human induced pluripotent and embryonic stem cells. Stem Cells Dev 2011 0.88
74 Expression of PRPF31 and TFPT: regulation in health and retinal disease. Hum Mol Genet 2012 0.88
75 Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis". Ann Hum Genet 2013 0.87
76 Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers. Arch Ophthalmol 2010 0.87
77 Hypoxia increases the yield of photoreceptors differentiating from mouse embryonic stem cells and improves the modeling of retinogenesis in vitro. Stem Cells 2013 0.87
78 Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. Hum Mutat 2011 0.87
79 Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Mol Vis 2008 0.87
80 A 112 kb deletion in chromosome 19q13.42 leads to retinitis pigmentosa. Invest Ophthalmol Vis Sci 2011 0.87
81 Cross species analysis of Prominin reveals a conserved cellular role in invertebrate and vertebrate photoreceptor cells. Dev Biol 2012 0.86
82 ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. Hum Mol Genet 2013 0.85
83 Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat 2010 0.84
84 A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population. Ophthalmic Res 2005 0.84
85 Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families. Ophthalmic Res 2008 0.82
86 Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy. Am J Ophthalmol 2005 0.81
87 Brief report: astrogliosis promotes functional recovery of completely transected spinal cord following transplantation of hESC-derived oligodendrocyte and motoneuron progenitors. Stem Cells 2014 0.81
88 Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness. Invest Ophthalmol Vis Sci 2013 0.81
89 Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study. Mol Vis 2011 0.81
90 Concise review: reactive astrocytes and stem cells in spinal cord injury: good guys or bad guys? Stem Cells 2015 0.81
91 Phenotype of retinitis pigmentosa associated with the Ser50Thr mutation in the NRL gene. Arch Ophthalmol 2003 0.81
92 Exclusion of four candidate genes, KHDRBS2, PTP4A1, KIAA1411 and OGFRL1, as causative of autosomal recessive retinitis pigmentosa. Ophthalmic Res 2005 0.81
93 Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus. Curr Eye Res 2005 0.80
94 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
95 Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophies. Biochim Biophys Acta 2004 0.79
96 A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q. Eur J Hum Genet 2012 0.79
97 Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34. Biochim Biophys Acta 2002 0.79
98 Concise review: stem cells for the treatment of cerebellar-related disorders. Stem Cells 2011 0.78
99 Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese pufferfish, Fugu rubripes. Biochim Biophys Acta 2002 0.77
100 Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe? Ophthalmic Genet 2009 0.76
101 Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa. Mol Vis 2012 0.76
102 Molecular genetic study of Egyptian patients with macular corneal dystrophy. Br J Ophthalmol 2009 0.76
103 Single-nucleotide polymorphisms and glaucoma severity. Am J Hum Genet 2003 0.75
104 A novel locus for autosomal dominant congenital cerulean cataract maps to chromosome 12q. Eur J Hum Genet 2011 0.75
105 Common polymorphisms in the SERPINI2 gene are associated with refractive error in the 1958 British Birth Cohort. Invest Ophthalmol Vis Sci 2012 0.75
106 Dominant cone and cone-rod dystrophies: functional analysis of mutations in retGC1 and GCAP1. Novartis Found Symp 2004 0.75