Fundación Pública Galega de Medicina Xenómica
Centro de investigación
![Foto de Fundación Pública Galega de Medicina Xenómica](/img/noimage.png)
![Foto de Hospital Universitario 12 de Octubre](/img/noimage_org.png)
Hospital Universitario 12 de Octubre
Madrid, EspañaPublicacións en colaboración con investigadores/as de Hospital Universitario 12 de Octubre (29)
2024
-
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis
Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28
-
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population
Database : the journal of biological databases and curation, Vol. 2024
2023
-
A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
-
A second update on mapping the human genetic architecture of COVID-19
Nature
-
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
-
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Clinical Kidney Journal, Vol. 16, Núm. 11, pp. 2011-2022
-
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
-
Machine Learning Improves Risk Stratification in Myelofibrosis: An Analysis of the Spanish Registry of Myelofibrosis
HemaSphere, Vol. 7, Núm. 1, pp. E818
-
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
-
Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
-
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients
Clinical chemistry, Vol. 67, Núm. 3, pp. 518-533
2019
-
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
Scientific Reports, Vol. 9, Núm. 1
-
Plasma lipid profiles discriminate bacterial from viral infection in febrile children
Scientific Reports, Vol. 9, Núm. 1
2017
-
Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome
PLoS ONE, Vol. 12, Núm. 11
-
The genetic component of bicuspid aortic valve and aortic dilation. An exome-wide association study
Journal of Molecular and Cellular Cardiology, Vol. 102, pp. 3-9
2015
-
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
2014
-
A colorectal cancer susceptibility new variant at 4q26 in the Spanish population identified by genome-wide association analysis
PLoS ONE, Vol. 9, Núm. 6
-
Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers
Breast Cancer Research and Treatment, Vol. 148, Núm. 2, pp. 415-421
2013
-
Meta-Analysis of Mismatch Repair Polymorphisms within the Cogent Consortium for Colorectal Cancer Susceptibility
PLoS ONE, Vol. 8, Núm. 9
-
Risk of cancer in cases of suspected lynch syndrome without germline mutation
Gastroenterology, Vol. 144, Núm. 5