Alejandro
Brea Fernández
Universidade de Santiago de Compostela
Santiago de Compostela, EspañaPublicaciones en colaboración con investigadores/as de Universidade de Santiago de Compostela (12)
2024
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Comparison of the ABC and ACMG systems for variant classification
European Journal of Human Genetics
2023
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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
2022
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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
2019
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Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy
Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136
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Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders
American Journal of Medical Genetics, Part A, Vol. 179, Núm. 2, pp. 290-294
2015
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Susceptibilidad genética al cáncer colorrectal y a la respuesta al tratamiento quimioterápico
Abordaje multidisciplinar de cáncer colorrectal (Andavira), pp. 411-424
2014
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A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer
Human Genetics, Vol. 133, Núm. 5, pp. 525-534
2013
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Pharmacogenomics in colorectal cancer: A genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration
Pharmacogenomics Journal, Vol. 13, Núm. 3, pp. 209-217
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Vaginal tubulovillous adenoma: A clinicopathologic and molecular study with review of the literature
International Journal of Gynecological Pathology, Vol. 32, Núm. 1, pp. 131-136
2010
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Colorectal cancer susceptibility quantitative trait loci in mice as a novel approach to detect low-penetrance variants in humans: A two-stage case-control study
Cancer Epidemiology Biomarkers and Prevention, Vol. 19, Núm. 2, pp. 619-623
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Single nucleotide polymorphisms in the wnt and bmp pathways and colorectal cancer risk in a spanish cohort
PLoS ONE, Vol. 5, Núm. 9, pp. 1-9
2008
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Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa
British Journal of Ophthalmology, Vol. 92, Núm. 10, pp. 1419-1423