Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Hospital Universitario La Fe
Valencia, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario La Fe (34)
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
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CNL and aCML should be considered as a single entity based on molecular profiles and outcomes
Blood Advances, Vol. 7, Núm. 9, pp. 1672-1681
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Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))
Nature communications
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Genomics improves risk stratifi cation of adults with T-cell acute lymphoblastic leukemia enrolled in measurable residual disease-oriented trials
Haematologica, Vol. 108, Núm. 4, pp. 969-980
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Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis
HemaSphere, Vol. 7, Núm. 1, pp. E818
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SARS-CoV-2 infection in children with cystic fibrosis: A cross-sectional multicenter study in Spain. New waves, new knowledge
Pediatric Pulmonology, Vol. 58, Núm. 11, pp. 3195-3205
2022
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CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493
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New insights into the genetic etiology of Alzheimer's disease and related dementias
Nature genetics, Vol. 54, Núm. 4, pp. 412-436
2021
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Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
Nature communications, Vol. 12, Núm. 1, pp. 3417
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Long runs of homozygosity are associated with Alzheimer’s disease
Translational Psychiatry, Vol. 11, Núm. 1
2019
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Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project
Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347
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Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)
Frontiers in Genetics, Vol. 10, Núm. OCT
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Novel and recurrent PNPLA1 mutations in spanish patients with autosomal recessive congenital ichthyosis; Evidence of a founder effect
Acta Dermato-Venereologica, Vol. 99, Núm. 10, pp. 894-898
2017
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Scientific Reports, Vol. 7, Núm. 1
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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection
International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219
2015
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BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study
Familial Cancer, Vol. 14, Núm. 4, pp. 505-513
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Fluorescence in situ hybridization of TP53 for the detection of chromosome 17 abnormalities in myelodysplastic syndromes
Leukemia and Lymphoma, Vol. 56, Núm. 11, pp. 3183-3188
2013
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Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility
PLoS ONE, Vol. 8, Núm. 9
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Response to lenalidomide in myelodysplastic syndromes with del(5q): Influence of cytogenetics and mutations
British Journal of Haematology, Vol. 162, Núm. 1, pp. 74-86
2012
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COGENT (COlorectal cancer GENeTics) revisited
Mutagenesis, Vol. 27, Núm. 2, pp. 143-151