Publicacións en colaboración con investigadores/as de Universidad Autónoma de Madrid (29)

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. Novel genes and sex differences in COVID-19 severity

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

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. Tweak signaling pathway blockade slows cyst growth and disease progression in autosomal dominant polycystic kidney disease

    Journal of the American Society of Nephrology, Vol. 32, Núm. 8, pp. 1913-1932

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

2017

  1. Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain

    Scientific Reports, Vol. 7, Núm. 1

2015

  1. Analysis of IGF(CA)19 and IGFBP3-202A/C gene polymorphisms in patients with acromegaly: Association with clinical presentation and response to treatments

    European Journal of Endocrinology, Vol. 172, Núm. 2, pp. 115-122

  2. Autism spectrum symptoms in Smith-Magenis syndrome and Williams syndrome: Comparisons and contrasts

    International Journal of Developmental Disabilities, Vol. 61, Núm. 1, pp. 49-55

  3. Translational value of animal models of kidney failure

    European Journal of Pharmacology, Vol. 759, pp. 205-220

2014

  1. FAS system deregulation in T-cell lymphoblastic lymphoma

    Cell Death and Disease, Vol. 5, Núm. 3

  2. Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain

    Schizophrenia Research, Vol. 159, Núm. 1, pp. 107-113

2013

  1. Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced by nonsteroidal anti-inflammatory drugs

    Journal of Allergy and Clinical Immunology, Vol. 132, Núm. 4, pp. 989-991

2012

  1. Cognitive functioning in children and adults with Smith-Magenis syndrome

    European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 394-399

  2. Genetic epistasis in female suicide attempters

    Progress in Neuro-Psychopharmacology and Biological Psychiatry, Vol. 38, Núm. 2, pp. 294-301

  3. How executive functions are related to intelligence in Williams syndrome

    Research in Developmental Disabilities, Vol. 33, Núm. 4, pp. 1169-1175

2011

  1. Electrochemical DNA base pairs quantification and endonuclease cleavage detection

    Biosensors and Bioelectronics, Vol. 27, Núm. 1, pp. 40-45

  2. Synthesis, structure, and biological activity of des-side Chain analogues of 1α,25-Dihydroxyvitamin D3 with substituents at C18

    ChemMedChem, Vol. 6, Núm. 5, pp. 788-793

2010

  1. Genome-wide identification of hypoxia-inducible factor binding sites and target genes by a probabilistic model integrating transcription-profiling data and in silico binding site prediction

    Nucleic Acids Research, Vol. 38, Núm. 7, pp. 2332-2345