Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (96)

2024

  1. A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis

    Journal of Molecular Diagnostics, Vol. 26, Núm. 1, pp. 17-28

  2. A genome-wide association study meta-analysis in a European sample of stage III/IV grade C periodontitis patients ≤35 years of age identifies new risk loci

    Journal of Clinical Periodontology, Vol. 51, Núm. 4, pp. 431-440

  3. Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

    Communications biology, Vol. 7, Núm. 1, pp. 202

  4. Developments in pharmacogenetics, pharmacogenomics, and personalized medicine

    Pharmacological Research, Vol. 200

  5. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

  6. High Frequencies of Genetic Variants in Patients with Atypical Femoral Fractures

    International Journal of Molecular Sciences, Vol. 25, Núm. 4

  7. Towards precision medicine of long-acting aripiprazole through population pharmacokinetic modelling

    Psychiatry Research, Vol. 333

2023

  1. (Pre)treatment risk factors for late fatigue and fatigue trajectories following radiotherapy for breast cancer

    International Journal of Cancer, Vol. 153, Núm. 9, pp. 1579-1591

  2. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

  3. 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

  4. 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

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

    Nature

  6. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

  7. Clozapine ultrarapid metabolism during weak induction probably exists but requires careful diagnosis. A literature review, five new cases and a proposed definition

    Schizophrenia Research

  8. Comparing symptom reporting by prostate cancer patients and healthcare professionals in the international multicentre REQUITE study

    Radiotherapy and Oncology, Vol. 178

  9. Contouring variation affects estimates of normal tissue complication probability for breast fibrosis after radiotherapy

    Breast, Vol. 72

  10. Deletion of the CYP2D6 gene as a likely explanation for the serious side effects of the antipsychotic drug pimozide: a case report

    Frontiers in Pharmacology, Vol. 14

  11. Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing

    Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113

  12. ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

    Clinical cancer research : an official journal of the American Association for Cancer Research, Vol. 29, Núm. 16, pp. 3037-3050

  13. Erratum: Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19 (Nature (2023) 617 7962 (764-768))

    Nature