Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (24)

2024

  1. Melanoma Registry of the Spanish Academy of Dermatology and Venereology (REGESMEL): Description and Data in its First Year of Operation

    Actas Dermo-Sifiliograficas

2023

  1. A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

    Breast cancer research : BCR, Vol. 25, Núm. 1, pp. 93

  2. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

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

    Nature

  4. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Genome Medicine, Vol. 15, Núm. 1

  5. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk (Nature Genetics, (2023), 55, 9, (1435-1439), 10.1038/s41588-023-01466-z)

    Nature Genetics

  6. Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry

    American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206

  7. Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk

    Nature Genetics, Vol. 55, Núm. 9, pp. 1435-1439

  8. FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women

    European journal of human genetics : EJHG, Vol. 31, Núm. 5, pp. 578-587

2022

  1. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

    Genome Medicine, Vol. 14, Núm. 1

  2. Incorporating progesterone receptor expression into the PREDICT breast prognostic model

    European Journal of Cancer, Vol. 173, pp. 178-193

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

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

  4. Rare germline copy number variants (CNVs) and breast cancer risk

    Communications biology, Vol. 5, Núm. 1, pp. 65

2021

  1. CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

    British Journal of Cancer, Vol. 124, Núm. 4, pp. 842-854

2020

  1. Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

    Nature Genetics, Vol. 52, Núm. 6, pp. 572-581

2018

  1. Care of the newborn with perinatal asphyxia candidate for therapeutic hypothermia during the first six hours of life in Spain

    Anales de Pediatria, Vol. 89, Núm. 4, pp. 211-221

  2. Thyroid Hormone Receptors Regulate the Expression of microRNAs with Key Roles in Skin Homeostasis

    Thyroid, Vol. 28, Núm. 7, pp. 921-932

2017

  1. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

2016

  1. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)

    Carcinogenesis, Vol. 37, Núm. 8, pp. 751-758

2014

  1. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588