Fundación Pública Galega de Medicina Xenómica
Centro de investigación
Fundación Pública Galega de Medicina Xenómica
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (97)
2023
-
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
-
BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis
Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5
-
Comparing symptom reporting by prostate cancer patients and healthcare professionals in the international multicentre REQUITE study
Radiotherapy and Oncology, Vol. 178
-
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
-
Development and evaluations of the ancestry informative markers of the VISAGE Enhanced Tool for Appearance and Ancestry
Forensic Science International: Genetics, Vol. 64
-
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
-
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
-
Genome-wide association study of treatment-related toxicity two years following radiotherapy for breast cancer
Radiotherapy and Oncology, Vol. 187
-
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
-
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
-
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2
British Journal of Cancer, Vol. 128, Núm. 12, pp. 2283-2294
-
Paediatric-onset generalized pustular psoriasis secondary to myeloperoxidase mutations
Clinical and experimental dermatology, Vol. 48, Núm. 2, pp. 130-132
-
Radiogenomics in lung cancer: Where are we?
Lung Cancer, Vol. 176, pp. 56-74
-
Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN)
International Journal of Dermatology
2022
-
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain
Neurologia, Vol. 37, Núm. 4, pp. 257-262
-
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach
Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944
-
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Communications biology, Vol. 5, Núm. 1, pp. 1061
-
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
-
Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))
European journal of human genetics : EJHG
-
Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers
Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842