PubRank

Susana Balcells

Author PubWeight™ 35.59‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet 2012 5.48
2 Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. JAMA 2008 2.52
3 ORMDL proteins are a conserved new family of endoplasmic reticulum membrane proteins. Genome Biol 2002 1.82
4 Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLoS Med 2006 1.68
5 Assessment of gene-by-sex interaction effect on bone mineral density. J Bone Miner Res 2012 1.58
6 Two new single-nucleotide polymorphisms in the COL1A1 upstream regulatory region and their relationship to bone mineral density. J Bone Miner Res 2002 1.07
7 Effect of IL-1beta, PGE(2), and TGF-beta1 on the expression of OPG and RANKL in normal and osteoporotic primary human osteoblasts. J Cell Biochem 2010 0.91
8 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
9 Regulation of CYP19 gene expression in primary human osteoblasts: effects of vitamin D and other treatments. Eur J Endocrinol 2003 0.90
10 Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies. Hum Mutat 2002 0.89
11 A new SNP in a negative regulatory region of the CYP19A1 gene is associated with lumbar spine BMD in postmenopausal women. Bone 2005 0.87
12 A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study. Clin Biochem 2007 0.86
13 In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs. Bone 2005 0.86
14 Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck bmd in Spanish postmenopausal women. Calcif Tissue Int 2007 0.85
15 Simvastatin and atorvastatin enhance gene expression of collagen type 1 and osteocalcin in primary human osteoblasts and MG-63 cultures. J Cell Biochem 2007 0.85
16 Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. Hum Mutat 2011 0.85
17 Functional relevance of the BMD-associated polymorphism rs312009: novel involvement of RUNX2 in LRP5 transcriptional regulation. J Bone Miner Res 2011 0.84
18 Haplotypes defined by promoter and intron 1 polymorphisms of the COLIA1 gene regulate bone mineral density in women. J Clin Endocrinol Metab 2006 0.83
19 The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. J Hum Genet 2006 0.83
20 A haplotype-based analysis of the LRP5 gene in relation to osteoporosis phenotypes in Spanish postmenopausal women. J Bone Miner Res 2008 0.83
21 Analysis of three functional polymorphisms in relation to osteoporosis phenotypes: replication in a Spanish cohort. Calcif Tissue Int 2010 0.83
22 Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations. Hum Mutat 2006 0.82
23 COL1A1 haplotypes and hip fracture. J Bone Miner Res 2012 0.81
24 Functional analysis of the I.3, I.6, pII and I.4 promoters of CYP19 (aromatase) gene in human osteoblasts and their role in vitamin D and dexamethasone stimulation. Eur J Endocrinol 2005 0.81
25 Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. Hum Mutat 2003 0.81
26 Genetic determinants of aromatase inhibitor-related arthralgia: the B-ABLE cohort study. Breast Cancer Res Treat 2013 0.80
27 High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. Hum Mutat 2006 0.78
28 Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies. Eur J Obstet Gynecol Reprod Biol 2005 0.78
29 A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations. Int J Med Sci 2005 0.77
30 Analyses of RANK and RANKL in the post-GWAS context: functional evidence of vitamin D stimulation through a RANKL distal region. J Bone Miner Res 2013 0.77
31 Description of extreme longevity in the Balearic Islands: Exploring a potential Blue Zone in Menorca, Spain. Geriatr Gerontol Int 2013 0.76
32 A novel nonsense mutation of the EXT1 gene in an Argentinian patient with multiple hereditary exostoses: a case report. J Bone Joint Surg Am 2012 0.76
33 Bone mass of a 113-year-old man. J Gerontol A Biol Sci Med Sci 2007 0.75