Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (35)

2023

  1. 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

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

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

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

    Radiotherapy and Oncology, Vol. 178

  4. 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

  5. Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer

    Radiotherapy and Oncology, Vol. 187

  6. Influence of Genetic Polymorphisms on the Short-Term Response to Ranibizumab in Patients With Neovascular Age-Related Macular Degeneration

    Investigative ophthalmology & visual science, Vol. 64, Núm. 13, pp. 34

  7. Large-scale meta-genome-wide association study reveals common genetic factors linked to radiation-induced acute toxicities across cancer types

    JNCI Cancer Spectrum, Vol. 7, Núm. 6

  8. Radiogenomics in lung cancer: Where are we?

    Lung Cancer, Vol. 176, pp. 56-74

2022

  1. Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain

    Neurologia, Vol. 37, Núm. 4, pp. 257-262

  2. Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)

    Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, Vol. 23, Núm. 1-2, pp. 25-34

  3. Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort

    Advances in Radiation Oncology, Vol. 7, Núm. 3

  4. Meta-GWAS identifies the heritability of acute radiation-induced toxicities in head and neck cancer

    Radiotherapy and Oncology, Vol. 176, pp. 138-148

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

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

  6. Tract-specific damage at spinal cord level in pure hereditary spastic paraplegia type 4: a diffusion tensor imaging study

    Journal of Neurology, Vol. 269, Núm. 6, pp. 3189-3203

  7. Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability

    European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945

2021

  1. CSVS, a crowdsourcing database of the Spanish population genetic variability

    Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137

  2. Identification of Novel Regulators of Zalcitabine-Induced Neuropathic Pain

    ACS Chemical Neuroscience, Vol. 12, Núm. 14, pp. 2619-2628

  3. Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4

    Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440

  4. Trans-ancestry genome-wide association meta-analysis of prostate cancer identifies new susceptibility loci and informs genetic risk prediction

    Nature Genetics, Vol. 53, Núm. 1, pp. 65-75

2020

  1. Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data

    Frontiers in Genetics, Vol. 11