Publicacións en colaboración con investigadores/as de Hospital Clinic Barcelona (14)

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. Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes

    Parkinsonism and Related Disorders, Vol. 94, pp. 67-78

2021

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

    Translational Psychiatry, Vol. 11, Núm. 1

2020

  1. Author Correction: Identification and characterization of Cardiac Glycosides as senolytic compounds (Nature Communications, (2019), 10, 1, (4731), 10.1038/s41467-019-12888-x)

    Nature Communications

  2. Baseline predictors for visual acuity loss during observation in diabetic macular oedema with good baseline visual acuity

    Acta Ophthalmologica, Vol. 98, Núm. 7, pp. e801-e806

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. Real-world outcomes of observation and treatment in diabetic macular edema with very good visual acuity: the OBTAIN study

    Acta Diabetologica

2017

  1. Genetic analysis in post-mortem samples with micro-ischemic alterations

    Forensic Science International, Vol. 271, pp. 120-125

  2. POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer

    Oncotarget, Vol. 8, Núm. 16, pp. 26732-26743

2016

  1. Comprehensive molecular testing in patients with high functioning autism spectrum disorder

    Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, Vol. 784-785, pp. 46-52

  2. Natural and undetermined sudden death: Value of post-mortem genetic investigation

    PLoS ONE, Vol. 11, Núm. 12

2015

  1. Genetic analysis, in silico prediction, and family segregation in long QT syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 1, pp. 79-85

2014

  1. Brugada syndrome and p.E61X_RANGRF

    Cardiology Journal, Vol. 21, Núm. 2, pp. 121-127