Xavier Estivill

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"Xavier Estivill"
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Susak H, Serra-Saurina L, Demidov G, et al. (2021) Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation. Plos Computational Biology. 17: e1007784
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
Munn-Chernoff MA, Johnson EC, Chou YL, et al. (2020) Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies. Addiction Biology. e12880
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
Zapata L, Susak H, Drechsel O, et al. (2017) Signatures of positive selection reveal a universal role of chromatin modifiers as cancer driver genes. Scientific Reports. 7: 13124
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