Publicacións en colaboración con investigadores/as de Universidad Autónoma de Madrid (52)

2023

  1. A crowdsourcing database for the copy-number variation of the Spanish population

    Human Genomics, Vol. 17, Núm. 1

  2. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. Correlation of Anti-Tissue Transglutaminase Antibodies With the Mucosal Changes and IgA Status of Children With Celiac Disease

    Journal of pediatric gastroenterology and nutrition, Vol. 75, Núm. 6, pp. 743-748

  2. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

    International Journal of Molecular Sciences, Vol. 23, Núm. 21

  3. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

  4. The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

    Clinical Genetics, Vol. 102, Núm. 1, pp. 40-55

  5. Whooping Cough: The Visible Enemy

    Archivos de Bronconeumologia

  6. [Translated article] Whooping Cough: The Visible Enemy

    Archivos de Bronconeumologia

2021

  1. Genomic characterization of host factors related to SARS-CoV-2 infection in people with dementia and control populations: The GR@ACE/DEGESCO study

    Journal of Personalized Medicine, Vol. 11, Núm. 12

  2. Long runs of homozygosity are associated with Alzheimer’s disease

    Translational Psychiatry, Vol. 11, Núm. 1

  3. Screen Time and Bone Status in Children and Adolescents: A Systematic Review

    Frontiers in Pediatrics, Vol. 9

2020

  1. Haploidentical transplantation in high-risk pediatric leukemia: A retrospective comparative analysis on behalf of the Spanish working Group for bone marrow transplantation in children (GETMON) and the Spanish Grupo for hematopoietic transplantation (GETH)

    American Journal of Hematology, Vol. 95, Núm. 1, pp. 28-37

  2. Lat-1 and glut-1 carrier expression and its prognostic value in gastroenteropancreatic neuroendocrine tumors

    Cancers, Vol. 12, Núm. 10, pp. 1-18

2019

  1. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

    Alzheimer's and Dementia, Vol. 15, Núm. 10, pp. 1333-1347

  2. Incidence and outcome after first molecular versus overt recurrence in patients with Philadelphia chromosome–positive acute lymphoblastic leukemia included in the ALL Ph08 trial from the Spanish PETHEMA Group

    Cancer, Vol. 125, Núm. 16, pp. 2810-2817

  3. TIPICO IX: report of the 9th interactive infectious disease workshop on infectious diseases and vaccines

    Human Vaccines and Immunotherapeutics, Vol. 15, Núm. 10, pp. 2405-2415

2018

  1. Ibero-American consensus on low- and no-calorie sweeteners: Safety, nutritional aspects and benefits in food and beverages

    Nutrients, Vol. 10, Núm. 7

  2. Paediatric research in Spain: Challenges and priorities. INVEST-AEP Platform

    Anales de Pediatria, Vol. 89, Núm. 5, pp. 314.e1-314.e6

  3. Protocolo para el diagnóstico y tratamiento de tirosinemia tipo I

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 125-134

2017

  1. The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

    Scientific Reports, Vol. 7