Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
1
|
Wilson's disease: an update.
|
Nat Clin Pract Neurol
|
2006
|
1.92
|
2
|
Micronuclei as biomarkers of carcinogen exposure in populations exposed to arsenic through drinking water in West Bengal, India: a comparative study in three cell types.
|
Cancer Epidemiol Biomarkers Prev
|
2004
|
1.57
|
3
|
Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers.
|
Clin Chem
|
2007
|
1.50
|
4
|
Primary role of CYP1B1 in Indian juvenile-onset POAG patients.
|
Mol Vis
|
2006
|
1.26
|
5
|
Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India.
|
Mol Vis
|
2005
|
1.06
|
6
|
Distribution of p53 codon 72 polymorphism in Indian primary open angle glaucoma patients.
|
Mol Vis
|
2002
|
1.04
|
7
|
Effect of sodium arsenite on peripheral lymphocytes in vitro: individual susceptibility among a population exposed to arsenic through the drinking water.
|
Mutagenesis
|
2004
|
1.03
|
8
|
Comparison of health effects between individuals with and without skin lesions in the population exposed to arsenic through drinking water in West Bengal, India.
|
J Expo Sci Environ Epidemiol
|
2006
|
1.03
|
9
|
Genetic variants associated with arsenic susceptibility: study of purine nucleoside phosphorylase, arsenic (+3) methyltransferase, and glutathione S-transferase omega genes.
|
Environ Health Perspect
|
2008
|
1.02
|
10
|
Toxicogenomics of arsenic: classical ideas and recent advances.
|
Mutat Res
|
2008
|
1.01
|
11
|
Mutations in MYOC gene of Indian primary open angle glaucoma patients.
|
Mol Vis
|
2002
|
0.98
|
12
|
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.
|
Mol Vis
|
2008
|
0.97
|
13
|
Cytogenetic damage and genetic variants in the individuals susceptible to arsenic-induced cancer through drinking water.
|
Int J Cancer
|
2006
|
0.95
|
14
|
Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.
|
Mol Vis
|
2005
|
0.91
|
15
|
Bioinformatic approaches for identification and characterization of olfactomedin related genes with a potential role in pathogenesis of ocular disorders.
|
Mol Vis
|
2004
|
0.90
|
16
|
Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification.
|
Hum Mutat
|
2005
|
0.89
|
17
|
A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs.
|
Mamm Genome
|
2003
|
0.88
|
18
|
Myocilin variants in Indian patients with open-angle glaucoma.
|
Arch Ophthalmol
|
2007
|
0.88
|
19
|
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.
|
BMC Mol Biol
|
2007
|
0.88
|
20
|
Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene.
|
Mol Vis
|
2005
|
0.86
|
21
|
Evaluation of genetic markers linked to hemophilia A locus: an Indian experience.
|
Haematologica
|
2007
|
0.86
|
22
|
Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis.
|
PLoS One
|
2012
|
0.85
|
23
|
Mitochondrial genome analysis of primary open angle glaucoma patients.
|
PLoS One
|
2013
|
0.84
|
24
|
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients.
|
J Neural Transm (Vienna)
|
2012
|
0.84
|
25
|
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
|
Cell Mol Neurobiol
|
2007
|
0.84
|
26
|
Association of IL1A and IL1B loci with primary open angle glaucoma.
|
BMC Med Genet
|
2010
|
0.84
|
27
|
SLC45A2 variations in Indian oculocutaneous albinism patients.
|
Mol Vis
|
2007
|
0.83
|
28
|
Comprehensive analysis of myocilin variants in east Indian POAG patients.
|
Mol Vis
|
2012
|
0.83
|
29
|
Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients.
|
Parkinsonism Relat Disord
|
2006
|
0.83
|
30
|
Role of glutathione S-transferase T1, M1 and P1 polymorphisms in Indian Parkinson's disease patients.
|
Parkinsonism Relat Disord
|
2011
|
0.83
|
31
|
DJ-1 variants in Indian Parkinson's disease patients.
|
Dis Markers
|
2012
|
0.82
|
32
|
Did myocilin evolve from two different primordial proteins?
|
Mol Vis
|
2002
|
0.82
|
33
|
A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.
|
Behav Brain Funct
|
2010
|
0.80
|
34
|
DNA linkage based diagnosis of Wilson disease in asymptomatic siblings.
|
Indian J Med Res
|
2003
|
0.80
|
35
|
Role of tau kinases (CDK5R1 and GSK3B) in Parkinson's disease: a study from India.
|
Neurobiol Aging
|
2010
|
0.79
|
36
|
Microtubule-associated protein tau (MAPT) influences the risk of Parkinson's disease among Indians.
|
Neurosci Lett
|
2009
|
0.79
|
37
|
Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci.
|
J Genet
|
2008
|
0.79
|
38
|
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos.
|
J Genet
|
2013
|
0.79
|
39
|
Evaluation of PINK1 variants in Indian Parkinson's disease patients.
|
Parkinsonism Relat Disord
|
2009
|
0.79
|
40
|
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients.
|
J Invest Dermatol
|
2010
|
0.79
|
41
|
Upregulation of human mitochondrial NADH dehydrogenase subunit 5 in intestinal epithelial cells is modulated by Vibrio cholerae pathogenesis.
|
FEBS Lett
|
2005
|
0.78
|
42
|
SNPs in genes with copy number variation: a question of specificity.
|
J Genet
|
2008
|
0.78
|
43
|
Genetic study on frontotemporal lobar degeneration in India.
|
Parkinsonism Relat Disord
|
2013
|
0.78
|
44
|
Indian genetic disease database.
|
Nucleic Acids Res
|
2010
|
0.78
|
45
|
Evaluation of the role of LRRK2 gene in Parkinson's disease in an East Indian cohort.
|
Dis Markers
|
2012
|
0.78
|
46
|
Simple and effective strategies for detection of allele dropout in PCR-based diagnosis of Wilson disease.
|
Clin Chem
|
2006
|
0.77
|
47
|
Genetic association and gene-gene interaction of HAS2, HABP1 and HYAL3 implicate hyaluronan metabolic genes in glaucomatous neurodegeneration.
|
Dis Markers
|
2012
|
0.77
|
48
|
WDR36 variants in East Indian primary open-angle glaucoma patients.
|
Mol Vis
|
2011
|
0.76
|
49
|
Analysis of COCH and TNFA variants in East Indian primary open-angle glaucoma patients.
|
Biomed Res Int
|
2013
|
0.75
|
50
|
Mitochondrial genome variations among arsenic exposed individuals and potential correlation with apoptotic parameters.
|
Environ Mol Mutagen
|
2013
|
0.75
|
51
|
Gene therapy in medicine.
|
Indian J Ophthalmol
|
2002
|
0.75
|
52
|
Myocilin mutation 1109 C>T (Pro 370 Leu) is the most common gene defect causing early onset primary open angle glaucoma.
|
Indian J Ophthalmol
|
2003
|
0.75
|
53
|
Genetics of eye diseases: preface.
|
J Genet
|
2009
|
0.75
|
54
|
Analysis of single nucleotide polymorphisms of PRNP gene in twenty-four ethnic groups of India.
|
J Genet
|
2010
|
0.75
|
55
|
TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin.
|
J Genet
|
2016
|
0.75
|