Medicina
Departamento
Fundación Pública Galega de Medicina Xenómica
Santiago de Compostela, EspañaPublicaciones en colaboración con investigadores/as de Fundación Pública Galega de Medicina Xenómica (18)
2023
2022
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Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain
Neurologia, Vol. 37, Núm. 4, pp. 257-262
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
Communications biology, Vol. 5, Núm. 1, pp. 1061
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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
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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
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Novel genes and sex differences in COVID-19 severity
Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362
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RICORS2040: The need for collaborative research in chronic kidney disease
Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387
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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
2021
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Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
Journal of Neurology, Vol. 268, Núm. 7, pp. 2429-2440
2020
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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
American Journal of Human Genetics, Vol. 107, Núm. 5, pp. 837-848
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Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Nature Genetics, Vol. 52, Núm. 1, pp. 56-73
2019
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Shared heritability and functional enrichment across six solid cancers
Nature Communications, Vol. 10, Núm. 1
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The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
npj Breast Cancer, Vol. 5, Núm. 1
2017
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Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
Scientific Reports, Vol. 7, Núm. 1
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Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants
Molecular Diagnosis and Therapy, Vol. 21, Núm. 3, pp. 303-313
2013
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Risk of cancer in cases of suspected lynch syndrome without germline mutation
Gastroenterology, Vol. 144, Núm. 5
2012
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Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B
Muscle and Nerve, Vol. 46, Núm. 6, pp. 961-964