Fundación Pública Galega de Medicina Xenómica
Centro de investigación
![Foto de Fundación Pública Galega de Medicina Xenómica](/img/noimage.png)
![Foto de Hospital de la Santa Creu i Sant Pau](/img/noimage_org.png)
Hospital de la Santa Creu i Sant Pau
Barcelona, EspañaPublicacións en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (34)
2024
-
Evaluation of Genetic Variants Associated with the Risk of Thiopurine-Related Pancreatitis: A Case Control Study from ENEIDA Registry
Digestive Diseases, Vol. 42, Núm. 3, pp. 257-264
-
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
2022
-
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative
Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493
-
Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
2021
-
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
Scientific Reports, Vol. 11, Núm. 1
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
-
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
2018
-
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Human Mutation, Vol. 39, Núm. 5, pp. 593-620
2016
-
Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients
Radiotherapy and Oncology, Vol. 121, Núm. 3, pp. 431-439
2015
-
Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients
Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67
2014
-
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer
Human Genetics, Vol. 133, Núm. 5, pp. 525-534
-
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants
International Journal of Cancer, Vol. 134, Núm. 9, pp. 2088-2097
-
Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain
Schizophrenia Research, Vol. 159, Núm. 1, pp. 107-113
2013
-
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
BMC Genomics, Vol. 14, Núm. 1
-
Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
PLoS ONE, Vol. 8, Núm. 7
-
Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles
Human Mutation, Vol. 34, Núm. 12, pp. 1615-1618
-
New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients
Pharmacogenomics, Vol. 14, Núm. 6, pp. 631-640