Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Institut d'Investigació Biomèdica Girona
Girona, EspañaPublicacións en colaboración con investigadores/as de Institut d'Investigació Biomèdica Girona (18)
2024
2023
2022
-
Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
-
Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants
Cell Reports Medicine, Vol. 2, Núm. 4
2020
-
Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants: Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
JAMA Oncology, Vol. 6, Núm. 8, pp. 1218-1230
2019
-
Publisher Correction: Shared heritability and functional enrichment across six solid cancers (Nature Communications, (2019), 10, 1, (431), 10.1038/s41467-018-08054-4)
Nature Communications
-
Shared heritability and functional enrichment across six solid cancers
Nature Communications, Vol. 10, Núm. 1
-
Sudden infant death as the most severe phenotype caused by genetic modulation in a family with atrial fibrillation
Forensic Science International: Genetics, Vol. 43
2017
-
Medico-legal perspectives on sudden cardiac death in young athletes
International Journal of Legal Medicine, Vol. 131, Núm. 2, pp. 393-409
2015
-
A Genetically Vulnerable Myocardium May Predispose to Myocarditis
Journal of the American College of Cardiology
-
Erratum: Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant (Seizure (2015) 25 (65-67))
Seizure
-
Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant
Seizure, Vol. 25, pp. 65-67
-
Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series
International Journal of Legal Medicine, Vol. 129, Núm. 3, pp. 495-504
2014
-
Negative autopsy and sudden cardiac death
International Journal of Legal Medicine, Vol. 128, Núm. 4, pp. 599-606
2013
-
Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
PLoS ONE, Vol. 8, Núm. 7
-
Nuevas herramientas diagnósticas en la genética de la muerte súbita
Revista Espanola de Cardiologia Suplementos, Vol. 13, Núm. SUPPL.1, pp. 24-29
2012
-
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer
Breast Cancer Research and Treatment, Vol. 132, Núm. 1, pp. 307-315