Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Hospital Universitario de Donostia
San Sebastián, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario de Donostia (23)
2024
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Use of multi-gene panels in patients at high risk of hereditary digestive cancer: position statement of AEG, SEOM, AEGH and IMPaCT-GENÓMICA consortium
Gastroenterologia y Hepatologia, Vol. 47, Núm. 3, pp. 293-318
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5
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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
2022
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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Parkinsonism and Related Disorders, Vol. 94, pp. 67-78
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Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842
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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
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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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Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Scientific Reports, Vol. 11, Núm. 1
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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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Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Scientific Reports, Vol. 9, Núm. 1
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Plasma lipid profiles discriminate bacterial from viral infection in febrile children
Scientific Reports, Vol. 9, Núm. 1
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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Whole Exome Sequencing reveals new candidate genes in host genomic susceptibility to Respiratory Syncytial Virus Disease
Scientific Reports, Vol. 7, Núm. 1
2016
2014
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Alcohol consumption and survival after a breast cancer diagnosis: A literature-based meta-analysis and collaborative analysis of data for 29,239 cases
Cancer Epidemiology Biomarkers and Prevention, Vol. 23, Núm. 6, pp. 934-945