PubRank

Chitra Kannabiran

Author PubWeight™ 26.84‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet 2012 1.86
2 Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet 2007 1.77
3 Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet 2006 1.63
4 TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. Invest Ophthalmol Vis Sci 2005 1.41
5 Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet 2006 1.29
6 Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy. Mol Vis 2007 1.14
7 A missense mutation in LIM2 causes autosomal recessive congenital cataract. Mol Vis 2008 1.08
8 Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening. Invest Ophthalmol Vis Sci 2009 0.99
9 A comprehensive, sensitive and economical approach for the detection of mutations in the RB1 gene in retinoblastoma. J Genet 2009 0.96
10 Lack of association of high-risk human papillomavirus in ocular surface squamous neoplasia in India. Arch Pathol Lab Med 2009 0.95
11 Posterior microphthalmos pigmentary retinopathy syndrome. Doc Ophthalmol 2011 0.92
12 Homozygous null mutations in the ABCA4 gene in two families with autosomal recessive retinal dystrophy. Am J Ophthalmol 2006 0.90
13 Phenotypic characterization of retinoblastoma for the presence of putative cancer stem-like cell markers by flow cytometry. Invest Ophthalmol Vis Sci 2008 0.89
14 Late occurrence of granular dystrophy in bilateral keratoconus: penetrating keratoplasty and long-term follow-up. Indian J Ophthalmol 2011 0.88
15 Mutational screening of the RB1 gene in Indian patients with retinoblastoma reveals eight novel and several recurrent mutations. Hum Mutat 2003 0.87
16 Novel mutations of the carbohydrate sulfotransferase-6 (CHST6) gene causing macular corneal dystrophy in India. Mol Vis 2003 0.85
17 Mutational screening of Indian families with hereditary congenital cataract. Mol Vis 2013 0.85
18 Reliability of nested polymerase chain reaction in the diagnosis of bacterial endophthalmitis. Am J Ophthalmol 2002 0.84
19 Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma. J Biosci 2011 0.82
20 Mutational analysis of the RB1 gene in Indian patients with retinoblastoma. Ophthalmic Genet 2002 0.80
21 RB1 gene mutations in retinoblastoma and its clinical correlation. Saudi J Ophthalmol 2010 0.80
22 Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. BMJ Case Rep 2009 0.80
23 Screening for homozygosity by descent in families with autosomal recessive retinitis pigmentosa. J Genet 2002 0.79
24 Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6. Mol Vis 2009 0.79
25 Hypomethylation of the DNMT3L promoter in ocular surface squamous neoplasia. Arch Pathol Lab Med 2010 0.78
26 A cataract-causing connexin 50 mutant is mislocalized to the ER due to loss of the fourth transmembrane domain and cytoplasmic domain. FEBS Open Bio 2012 0.76
27 Of genes and disease. Indian J Ophthalmol 2002 0.75
28 Parents of Patients With Congenital Hereditary Endothelial Dystrophy Should Be Evaluated for Fuchs Endothelial Corneal Dystrophy. Cornea 2017 0.75
29 Share, learn and get together: knowledge and information interactions at the XLV International Symposium of ISCEV - Hyderabad, India, 25-29 August 2007. Doc Ophthalmol 2007 0.75