Publicacións en colaboración con investigadores/as de Hospital de la Santa Creu i Sant Pau (17)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    Clinical genetics, Vol. 101, Núm. 5-6, pp. 481-493

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

2021

  1. Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer

    Scientific Reports, Vol. 11, Núm. 1

2015

  1. 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

  1. 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

  2. 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

  1. 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

  2. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

  3. New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients

    Pharmacogenomics, Vol. 14, Núm. 6, pp. 631-640

2012

  1. 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

2010

  1. Estudios Farmacogenéticos del tratamiento con Antipsicóticos: Estado actual y perspectivas

    Actas Espanolas de Psiquiatria, Vol. 38, Núm. 5, pp. 301-316

2006

  1. Genomic rearrangements at the BRCA1 locus in Spanish families with breast/ovarian cancer

    Clinical Chemistry, Vol. 52, Núm. 8, pp. 1480-1485

2004

  1. The variant E233G of the rad51d gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations

    International Journal of Cancer, Vol. 110, Núm. 6, pp. 845-849

2003

  1. Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects

    Human Mutation, Vol. 22, Núm. 4, pp. 301-312

  2. Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations

    European Journal of Human Genetics

2001

  1. The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

    Human mutation, Vol. 17, Núm. 6, pp. 520-521