Publicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (83)

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. Expanding the Clinical and Molecular Spectrum of FOXG1- and ZBTB18-Associated Neurodevelopmental Disorders

    Cytogenetic and genome research, Vol. 163, Núm. 5-6, pp. 301-306

  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. Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations

    Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132

  9. 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. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  5. How Executive Functions Correlate with Intelligence in Children and Adolescents in Autism Spectrum Disorders

    Journal of Cognition and Development, Vol. 23, Núm. 5, pp. 776-790

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

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

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

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

  8. RICORS2040: The need for collaborative research in chronic kidney disease

    Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387

  9. 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

  10. 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. A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients

    Clinical chemistry, Vol. 67, Núm. 3, pp. 518-533