Xavier Estivill

"Xavier Estivill"
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Martín-Nalda A, Fortuny C, Rey L, et al. (2020) Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations. Journal of Clinical Immunology
Steyn A, Crowther NJ, Norris SA, et al. (2019) Epigenetic modification of the pentose phosphate pathway and the IGF-axis in women with gestational diabetes mellitus. Epigenomics
Watson HJ, Yilmaz Z, Thornton LM, et al. (2019) Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa. Nature Genetics
Bosio M, Drechsel O, Rahman R, et al. (2019) eDiVA - Classification and Prioritization of Pathogenic Variants for Clinical Diagnostics. Human Mutation
Rabionet R, Remesal A, Mensa-Vilaró A, et al. (2019) Biallelic loss-of-function LACC1/FAMIN Mutations Presenting as Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis. Scientific Reports. 9: 4579
Mola-Caminal M, Carrera C, Soriano-Tárraga C, et al. (2018) PATJ Low Frequency Variants Are Associated with Worse Ischemic Stroke Functional Outcome: A Genome-Wide Meta-Analysis. Circulation Research
Muyas F, Bosio M, Puig A, et al. (2018) Allele balance bias identifies systematic genotyping errors and false disease associations. Human Mutation
Prasad A, Rabionet R, Espinet B, et al. (2016) Identification of gene mutations and fusion genes in patients with Sézary Syndrome. The Journal of Investigative Dermatology
Ombrello MJ, Remmers EF, Tachmazidou I, et al. (2015) HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proceedings of the National Academy of Sciences of the United States of America
Durst R, Sauls K, Peal DS, et al. (2015) Mutations in DCHS1 cause mitral valve prolapse. Nature
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