PubRank

John Loughlin

Author PubWeight™ 69.63‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study. Lancet 2012 3.48
2 Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood 2011 3.16
3 An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage. Hum Mol Genet 2007 2.52
4 Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. Arthritis Rheum 2009 2.47
5 A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22. Arthritis Rheum 2010 2.02
6 Sex and ethnic differences in the association of ASPN, CALM1, COL2A1, COMP, and FRZB with genetic susceptibility to osteoarthritis of the knee. Arthritis Rheum 2007 1.95
7 A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility. Hum Mol Genet 2008 1.91
8 Characterization of the cartilage DNA methylome in knee and hip osteoarthritis. Arthritis Rheumatol 2014 1.77
9 Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis 2010 1.75
10 Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data. Ann Rheum Dis 2012 1.62
11 Identification of DIO2 as a new susceptibility locus for symptomatic osteoarthritis. Hum Mol Genet 2008 1.60
12 A variant in MCF2L is associated with osteoarthritis. Am J Hum Genet 2011 1.60
13 Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population. Arthritis Rheum 2005 1.48
14 Extreme context specificity in differential allelic expression. Hum Mol Genet 2007 1.47
15 Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis. Am J Hum Genet 2008 1.45
16 Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. Arthritis Rheum 2006 1.44
17 Finer linkage mapping of primary hip osteoarthritis susceptibility on chromosome 11q in a cohort of affected female sibling pairs. Arthritis Rheum 2002 1.41
18 Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women. Arthritis Rheum 2003 1.34
19 Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism. Arthritis Rheum 2009 1.34
20 Meta-analysis of association between the ASPN D-repeat and osteoarthritis. Hum Mol Genet 2007 1.28
21 Recent advances in the genetic investigation of osteoarthritis. Trends Mol Med 2005 1.27
22 Insights from human genetic studies into the pathways involved in osteoarthritis. Nat Rev Rheumatol 2013 1.22
23 Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation. Hum Mol Genet 2011 1.15
24 Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations. Hum Mol Genet 2009 1.15
25 Genetics and epigenetics of osteoarthritis. Maturitas 2011 1.15
26 A novel allelic variant of the human TSG-6 gene encoding an amino acid difference in the CUB module. Chromosomal localization, frequency analysis, modeling, and expression. J Biol Chem 2002 1.13
27 The genetics and functional analysis of primary osteoarthritis susceptibility. Expert Rev Mol Med 2013 1.10
28 Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues. Ann Rheum Dis 2012 1.04
29 The effect of genome-wide association scan quality control on imputation outcome for common variants. Eur J Hum Genet 2011 1.04
30 A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. Mov Disord 2012 1.01
31 CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383. Hum Genet 2014 1.01
32 Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies. Arthritis Rheumatol 2014 1.00
33 Meta-analyses of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility. Ann Rheum Dis 2010 0.96
34 Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis. BMC Med Genet 2009 0.96
35 The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383. PLoS Genet 2013 0.93
36 Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3. BMC Med Genet 2012 0.92
37 Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13. Arthritis Rheum 2004 0.91
38 Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1. BMC Med Genet 2014 0.90
39 A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression. Eur J Hum Genet 2012 0.89
40 Genetic background increases the risk of hip osteoarthritis. Clin Orthop Relat Res 2005 0.89
41 Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3. Hum Mutat 2008 0.88
42 Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. Hum Mol Genet 2010 0.88
43 Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis. Arthritis Rheum 2008 0.88
44 Finer linkage mapping of primary osteoarthritis susceptibility loci on chromosomes 4 and 16 in families with affected women. Arthritis Rheum 2004 0.87
45 BMP5 activates multiple signaling pathways and promotes chondrogenic differentiation in the ATDC5 growth plate model. Growth Factors 2010 0.86
46 Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis. Hum Genet 2004 0.86
47 No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls. Ann Rheum Dis 2012 0.86
48 Variation in the secreted frizzled-related protein-3 gene and risk of osteolysis and heterotopic ossification after total hip arthroplasty. J Orthop Res 2007 0.86
49 Genetic association analysis of RHOB and TXNDC3 in osteoarthritis. Am J Hum Genet 2007 0.84
50 The common HFE variants C282Y and H63D are not associated with primary OA of the hip or knee. J Rheumatol 2005 0.82
51 Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues. BMC Musculoskelet Disord 2013 0.80
52 Association of the interleukin-1 gene cluster with osteoarthritis of the hip: comment on the article by Meulenbelt et al and the letter by Smith et al. Arthritis Rheum 2006 0.79
53 Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis. BMC Med Genet 2010 0.79
54 Knee osteoarthritis, lumbar-disc degeneration and developmental dysplasia of the hip--an emerging genetic overlap. Arthritis Res Ther 2011 0.78
55 Association of a BMP5 microsatellite with knee osteoarthritis: case-control study. Arthritis Res Ther 2012 0.77
56 Presence of a primary hip osteoarthritis susceptibility locus on chromosome 6: comment on the article by Meenagh et al. Arthritis Rheum 2006 0.75
57 Corrigendum: Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis. Nat Genet 2017 0.75