Publicaciones en colaboración con investigadores/as de Hospital Clínico San Carlos de Madrid (55)

2024

  1. Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants

    Journal of Pathology, Vol. 262, Núm. 4, pp. 395-409

  2. Embolic Events in Infective Endocarditis: A Comprehensive Review

    Reviews in Cardiovascular Medicine, Vol. 25, Núm. 3

  3. Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants

    Clinical chemistry, Vol. 70, Núm. 1, pp. 319-338

2023

  1. Current management of bowel failure due to Crohn's disease in Spain: Results of a GETECCU survey

    Gastroenterologia y Hepatologia, Vol. 46, Núm. 6, pp. 439-445

2022

  1. A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility

    Cancers, Vol. 14, Núm. 19

  2. Minigene Splicing Assays Identify 20 Spliceogenic Variants of the Breast/Ovarian Cancer Susceptibility Gene RAD51C

    Cancers, Vol. 14, Núm. 12

  3. Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants

    Journal of Pathology, Vol. 258, Núm. 1, pp. 83-101

  4. Relationship between the coronary artery calcium quantification and gut microbiota composition in subjects without previous cardiovascular disease: A pilot study

    Clinica e Investigacion en Arteriosclerosis, Vol. 34, Núm. 4, pp. 205-215

  5. Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants

    Cancers, Vol. 14, Núm. 18

  6. Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants

    Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334

2021

  1. Rad51d aberrant splicing in breast cancer: Identification of splicing regulatory elements and minigene-based evaluation of 53 dna variants

    Cancers, Vol. 13, Núm. 11

2020

  1. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Nature Genetics, Vol. 52, Núm. 1, pp. 56-73

  2. Frequency and Type of Red Flags in Patients With Covid-19 and Headache: A Series of 104 Hospitalized Patients

    Headache, Vol. 60, Núm. 8, pp. 1664-1672

  3. Usefulness of monitoring antitumor necrosis factor serum levels during the induction phase in patients with Crohn's disease

    European Journal of Gastroenterology and Hepatology, Vol. 32, Núm. 5, pp. 588-596

  4. Will neurological care change over the next 5 years due to the COVID-19 pandemic? Key informant consensus survey

    Neurologia, Vol. 35, Núm. 4, pp. 252-257

2019

  1. Clinical Characteristics, Associated Malignancies and Management of Primary Sclerosing Cholangitis in Inflammatory Bowel Disease Patients: A Multicentre Retrospective Cohort Study

    Journal of Crohn's & colitis, Vol. 13, Núm. 12, pp. 1492-1500

  2. Correlation Between Anti-TNF Serum Levels and Endoscopic Inflammation in Inflammatory Bowel Disease Patients

    Digestive Diseases and Sciences, Vol. 64, Núm. 3, pp. 846-854

  3. Differences between childhood- and adulthood-onset inflammatory bowel disease: the CAROUSEL study from GETECCU

    Alimentary Pharmacology and Therapeutics, Vol. 49, Núm. 4, pp. 419-428

  4. Functional rare variants influence the clinical response to anti-TNF therapy in Crohn’s disease

    Therapeutic Advances in Gastroenterology, Vol. 12

2018

  1. Association Between Germline Mutations in BRF1, a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

    Gastroenterology, Vol. 154, Núm. 1, pp. 181-194.e20