Fundación Pública Galega de Medicina Xenómica
Centro de investigación
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Hospital Clinic Barcelona
Barcelona, EspañaPublicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (42)
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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A second update on mapping the human genetic architecture of COVID-19
Nature
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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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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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Germline mutations in WNK2 could be associated with serrated polyposis syndrome
Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567
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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
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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Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes
Parkinsonism and Related Disorders, Vol. 94, pp. 67-78
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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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Long runs of homozygosity are associated with Alzheimer’s disease
Translational Psychiatry, Vol. 11, Núm. 1
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The risk of thrombosis in essential thrombocythemia is associated with the type of CALR mutation: A multicentre collaborative study
European Journal of Haematology, Vol. 106, Núm. 3, pp. 371-379
2020
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Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility
Journal of Medical Genetics, Vol. 57, Núm. 10, pp. 677-682
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Genetic variants of uncertain significance: How to match scientific rigour and standard of proof in sudden cardiac death?
Legal Medicine, Vol. 45
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
2018
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Rare germline copy number variants in colorectal cancer predisposition characterized by exome sequencing analysis
Journal of Genetics and Genomics
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Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
Human Mutation, Vol. 39, Núm. 8, pp. 1126-1138
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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Genetic analysis in post-mortem samples with micro-ischemic alterations
Forensic Science International, Vol. 271, pp. 120-125
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Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia
Nature Communications, Vol. 8
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POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer
Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743