PubRank

Madhuri R Hegde

Author PubWeight™ 39.67‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008 9.13
2 ACMG clinical laboratory standards for next-generation sequencing. Genet Med 2013 5.30
3 Exploring concordance and discordance for return of incidental findings from clinical sequencing. Genet Med 2012 4.04
4 Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol 2012 3.62
5 College of American Pathologists' laboratory standards for next-generation sequencing clinical tests. Arch Pathol Lab Med 2014 1.84
6 Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies. Muscle Nerve 2014 1.41
7 Severe childhood autosomal recessive muscular dystrophy, mental subnormality and chorea. Neurol India 2006 1.39
8 Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet 2012 1.38
9 Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data. Hum Mutat 2013 1.32
10 Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet 2012 1.29
11 A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield. Ann Neurol 2014 1.25
12 Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation. Genet Med 2011 1.15
13 DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet 2012 1.09
14 Mouse model implicates GNB3 duplication in a childhood obesity syndrome. Proc Natl Acad Sci U S A 2013 0.90
15 Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene. Genome Res 2011 0.86
16 Empirical evaluation of oligonucleotide probe selection for DNA microarrays. PLoS One 2010 0.84
17 Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective. Muscle Nerve 2013 0.83
18 Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing. Mol Genet Metab 2013 0.82
19 A simple method to confirm and size deletion, duplication, and insertion mutations detected by sequence analysis. J Mol Diagn 2010 0.81
20 Determination of common genetic variants in cytidine deaminase (CDA) gene in Indian ethnic population. Gene 2013 0.78
21 Clinical applications and implications of common and founder mutations in Indian subpopulations. Hum Mutat 2014 0.75
22 Marching towards personalized genomic medicine. J Pediatr 2012 0.75
23 Genetic variation in dihydropyrimidine dehydrogenase (DPYD) gene in a healthy adult Indian population. Ann Hum Biol 2014 0.75
24 Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine. Hum Mutat 2016 0.75
25 Identification of deletions and duplications in the Duchenne muscular dystrophy gene and female carrier status in western India using combined methods of multiplex polymerase chain reaction and multiplex ligation-dependent probe amplification. Neurol India 2012 0.75