Publikationen, an denen er mitarbeitet Alejandro Brea Fernández (20)

2023

  1. 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

  1. 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

  1. 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

  1. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

2015

  1. 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

  2. Susceptibilidad genética al cáncer colorrectal y a la respuesta al tratamiento quimioterápico

    Abordaje multidisciplinar de cáncer colorrectal (Andavira), pp. 411-424

2014

  1. 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

  2. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588

2013

  1. 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

  2. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations

    Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318

  3. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency

    Clinical Genetics

  4. Corrigendum

    Carcinogenesis

  5. 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

  6. Risk of cancer in cases of suspected lynch syndrome without germline mutation

    Gastroenterology, Vol. 144, Núm. 5

2012

  1. 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

  2. Seeking genetic susceptibility variants for colorectal cancer: The EPICOLON consortium experience

    Mutagenesis, Vol. 27, Núm. 2, pp. 153-159

2011

  1. An update of in Silico tools for the prediction of pathogenesis in Missense variants

    Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198

2010

  1. 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

  2. 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

  1. Novel splice donor site mutation in MERTK gene associated with retinitis pigmentosa

    British Journal of Ophthalmology, Vol. 92, Núm. 10, pp. 1419-1423