Publicacións (31) Publicacións de Alejandro Brea Fernández

2024

  1. Comparison of the ABC and ACMG systems for variant classification

    European Journal of Human Genetics

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

2020

  1. 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

  1. Expanding the clinical and molecular spectrum of the CWC27-related spliceosomopathy

    Journal of Human Genetics, Vol. 64, Núm. 11, pp. 1133-1136

  2. 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

  2. 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

  1. 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

  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

  7. 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