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List of works by Bernardo Antonio Pons-Estel

A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus

scientific article

A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus

scholarly article by Zubin Patel published in April 2018

ABIN1 dysfunction as a genetic basis for lupus nephritis

scientific article published on 22 August 2013

Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus

scientific article

Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility

scientific article

Association of two independent functional risk haplotypes in TNIP1 with systemic lupus erythematosus

scientific article

Evaluation of TRAF6 in a large multiancestral lupus cohort

scientific article

Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

scientific article published on July 2012

Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups

scientific article published on 17 August 2012

Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study

scientific article published on 29 March 2012

Identification of a new putative functional IL18 gene variant through an association study in systemic lupus erythematosus

scientific article

Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study

scientific article

Impact of genetic ancestry and sociodemographic status on the clinical expression of systemic lupus erythematosus in American Indian-European populations

scientific article

MicroRNA-3148 modulates allelic expression of toll-like receptor 7 variant associated with systemic lupus erythematosus

scientific article

Novel association of acid phosphatase locus 1*C allele with systemic lupus erythematosus

scientific article

PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes

scientific article

PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6.

scientific article published on 17 February 2014

Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus

scientific article published on 30 June 2011

Preferential binding to Elk-1 by SLE-associated IL10 risk allele upregulates IL10 expression

scientific article

Promoter Insertion/Deletion in the IRF5 Gene Is Highly Associated with Susceptibility to Systemic Lupus Erythematosus in Distinct Populations, But Exerts a Modest Effect on Gene Expression in Peripheral Blood Mononuclear Cells

article

Trans-ancestral studies fine map the SLE-susceptibility locus TNFSF4.

scientific article

Transancestral mapping and genetic load in systemic lupus erythematosus

scientific article published on 17 July 2017

Variation in the ICAM1-ICAM4-ICAM5 locus is associated with systemic lupus erythematosus susceptibility in multiple ancestries

scientific article

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