BIOQUÍMICA Y BIOLOGÍA MOLECULAR II
Departamento
Hospital Vall d'Hebron
Barcelona, EspañaPublicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (23)
2023
2022
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Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 340
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Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors
Biological psychiatry, Vol. 91, Núm. 3, pp. 313-327
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The Effect of Body Fat Distribution on Systemic Sclerosis
Journal of Clinical Medicine, Vol. 11, Núm. 20
2021
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Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders
Molecular Psychiatry, Vol. 26, Núm. 4, pp. 1286-1298
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Comprehensive analysis of the major histocompatibility complex in systemic sclerosis identifies differential HLA associations by clinical and serological subtypes
Annals of the Rheumatic Diseases, Vol. 80, Núm. 8, pp. 1040-1047
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Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology
Nature genetics, Vol. 53, Núm. 6, pp. 817-829
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Genomic Risk Score impact on susceptibility to systemic sclerosis
Annals of the Rheumatic Diseases, Vol. 80, Núm. 1, pp. 118-127
2020
2019
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Association of TNFSF4 (OX40L) polymorphisms with systemic sclerosis-related calcinosis
Rheumatology (United Kingdom)
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GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
Nature Communications, Vol. 10, Núm. 1
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Genome-wide association study identifies 30 loci associated with bipolar disorder
Nature Genetics, Vol. 51, Núm. 5, pp. 793-803
2018
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Analysis of shared heritability in common disorders of the brain
Science, Vol. 360, Núm. 6395
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Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations
PLoS ONE, Vol. 13, Núm. 1
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Improving genetic prediction by leveraging genetic correlations among human diseases and traits
Nature Communications, Vol. 9, Núm. 1
2017
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An MIF promoter polymorphism is associated with susceptibility to pulmonary arterial hypertension in diffuse cutaneous systemic sclerosis
Journal of Rheumatology, Vol. 44, Núm. 10, pp. 1453-1457
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Analysis of ATP8B4 F436L Missense Variant in a Large Systemic Sclerosis Cohort
Arthritis and Rheumatology, Vol. 69, Núm. 6, pp. 1337-1338
2016
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Brief Report: IRF4 Newly Identified as a Common Susceptibility Locus for Systemic Sclerosis and Rheumatoid Arthritis in a Cross-Disease Meta-Analysis of Genome-Wide Association Studies
Arthritis and Rheumatology, Vol. 68, Núm. 9, pp. 2338-2344
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Influence of TYK2 in systemic sclerosis susceptibility: A new locus in the IL-12 pathway
Annals of the Rheumatic Diseases, Vol. 75, Núm. 8, pp. 1521-1526
2014
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A genome-wide association study follow-up suggests a possible role for PPARG in systemic sclerosis susceptibility
Arthritis Research and Therapy, Vol. 16, Núm. 1