Xavier Estivill

"Xavier Estivill"
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Elfatih A, Mifsud B, Syed N, et al. (2021) Actionable genomic variants in 6045 participants from the Qatar Genome Program. Human Mutation
Gallego-Paüls M, Hernández-Ferrer C, Bustamante M, et al. (2021) Variability of multi-omics profiles in a population-based child cohort. Bmc Medicine. 19: 166
Al-Shafai KN, Al-Hashemi M, Manickam C, et al. (2021) Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs. Molecular Genetics & Genomic Medicine. e1709
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
D'Angelo CS, Hermes A, McMaster CR, et al. (2020) Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations. Frontiers in Pediatrics. 8: 579924
Vives-Usano M, Hernandez-Ferrer C, Maitre L, et al. (2020) In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children. Bmc Medicine. 18: 243
Grassi L, Izuogu OG, Jorge NAN, et al. (2020) Cell type specific novel lncRNAs and circRNAs in the BLUEPRINT haematopoietic transcriptomes atlas. Haematologica
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
Couto Alves A, De Silva NMG, Karhunen V, et al. (2019) GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI. Science Advances. 5: eaaw3095
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