Publicacións en colaboración con investigadores/as de Hospital Vall d'Hebron (23)

2024

  1. Clinical and Genetic Analysis of Patients With TK2 Deficiency

    Neurology: Genetics, Vol. 10, Núm. 2

2023

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

    Nature

2022

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

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

2019

  1. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

    Nature Communications, Vol. 10, Núm. 1

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

  2. 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

2016

  1. Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies

    Scientific Reports, Vol. 6

  2. PRKG1 and genetic diagnosis of early-onset thoracic aortic disease

    European Journal of Clinical Investigation, Vol. 46, Núm. 9, pp. 787-794

2015

  1. Predicting proliferative vitreoretinopathy: Temporal and external validation of models based on genetic and clinical variables

    British Journal of Ophthalmology, Vol. 99, Núm. 1, pp. 41-48

2014

  1. RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

    Breast Cancer Research and Treatment, Vol. 147, Núm. 1, pp. 133-143

  2. Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease

    Clinica Chimica Acta, Vol. 437, pp. 88-92

2013

  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

  2. Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced by nonsteroidal anti-inflammatory drugs

    Journal of Allergy and Clinical Immunology, Vol. 132, Núm. 4, pp. 989-991

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

2011

  1. Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

    BMC Medical Genetics, Vol. 12

2010

  1. A strong genetic association between the tumor necrosis factor locus and proliferative vitreoretinopathy: The Retina 4 Project

    Ophthalmology, Vol. 117, Núm. 12

  2. Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia

    Molecular Psychiatry, Vol. 15, Núm. 10, pp. 1023-1033

  3. The genomics serving pediatrics in the investigation of the multifactorial disease

    Acta Pediatrica Espanola, Vol. 68, Núm. 2, pp. 55-60

2009

  1. New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0

    PLoS ONE, Vol. 4, Núm. 4

  2. Prevalence of CYP2C9 polymorphisms in the south of Europe

    Pharmacogenomics Journal, Vol. 9, Núm. 5, pp. 306-310