Alejandro
Brea Fernández
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublications in collaboration with researchers from Complexo Hospitalario Universitario de Santiago (15)
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
2020
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Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Brain, Vol. 143, Núm. 10, pp. 2929-2944
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
2017
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Candidate predisposing germline copy number variants in early onset colorectal cancer patients
Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632
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Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer
Gastroenterology, Vol. 152, Núm. 5, pp. 983-986.e6
2016
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The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer
European Journal of Human Genetics, Vol. 24, Núm. 10, pp. 1501-1505
2015
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Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
Journal of Medical Genetics, Vol. 52, Núm. 7, pp. 498-502
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
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High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families
Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588
2013
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A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12
BMC Genomics, Vol. 14, Núm. 1
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BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations
Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318
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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
2012
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Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer
Gut, Vol. 61, Núm. 6, pp. 865-872
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Seeking genetic susceptibility variants for colorectal cancer: The EPICOLON consortium experience
Mutagenesis, Vol. 27, Núm. 2, pp. 153-159