Publications by the researcher in collaboration with Francisco Barros Angueira (63)

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. Efficacy and toxicity of adjuvant chemotherapy on colorectal cancer patients: how much influence from the genetics?

    Journal of Chemotherapy, pp. 1-13

2019

  1. Association of GSTP1 and ERCC1 polymorphisms with toxicity in locally advanced head and neck cancer platinum-based chemoradiotherapy treatment

    Head and Neck, Vol. 41, Núm. 8, pp. 2704-2715

  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

2018

  1. Whole exome sequencing approach to analysis of the origin of cancer stem cells in patients with head and neck squamous cell carcinoma

    Journal of Oral Pathology and Medicine, Vol. 47, Núm. 10, pp. 938-944

2017

  1. Copy number variation analysis of patients with intellectual disability from North-West Spain

    Gene, Vol. 626, pp. 189-199

2015

  1. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1315-1322

  2. Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la region de los síndromes de microdeleción/microduplicación 3q29

    Revista de Neurologia, Vol. 61, Núm. 6, pp. 255-260

  3. Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1369-1373

  4. Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo

    Revista de Neurologia, Vol. 61, Núm. 2, pp. 94-96

  5. Delimiting allelic imbalance of TYMS by allele-specific analysis

    Medicine (United States), Vol. 94, Núm. 27, pp. e1091

  6. Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients

    Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67

  7. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3121-3129

  8. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120

  9. Long Survival and Severe Toxicity under 5-Fluorouracil-Based Therapy in a Patient with Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS

    Mayo Clinic Proceedings, Vol. 90, Núm. 9, pp. 1298-1303

2014

  1. A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

    Journal of Medical Genetics, Vol. 51, Núm. 7, pp. 475-478

  2. The Complexity of Colorectal Cancer Biology — Putting Bricks on the Path to Personalized Medicine

    Colorectal Cancer - Surgery, Diagnostics and Treatment

2013

  1. New genetic associations in thiopurine-related bone marrow toxicity among inflammatory bowel disease patients

    Pharmacogenomics, Vol. 14, Núm. 6, pp. 631-640

2012

  1. The value of genetic polymorphisms to predict toxicity in metastatic colorectal patients with irinotecan-based regimens

    Cancer Chemotherapy and Pharmacology, Vol. 69, Núm. 6, pp. 1591-1599

  2. X-ray cross-complementing group 1 and thymidylate synthase polymorphisms might predict response to chemoradiotherapy in rectal cancer patients

    International Journal of Radiation Oncology Biology Physics, Vol. 82, Núm. 1, pp. 138-144