Children
Sign in to add traineeCaty Casas | grad student | Universitat Autònoma de Barcelona (Neurotree) | |
Raquel Rabionet | grad student |
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Publications
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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 |