Publications in collaboration with researchers from Hospital Clinic Barcelona (18)

2023

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

    Nature

2022

  1. A first update on mapping the human genetic architecture of COVID-19

    Nature

  2. RICORS2040: The need for collaborative research in chronic kidney disease

    Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387

  3. Whole-genome sequencing reveals host factors underlying critical COVID-19

    Nature, Vol. 607, Núm. 7917, pp. 97-103

2021

  1. Distar Renal Tubular Acidosis (dRTA): Epidemiological, diagnostics, clinical follow-up and therapeutical issues. Nephrologists cohort survey outcome

    Nefrologia, Vol. 41, Núm. 1, pp. 62-68

  2. Genetic variation in APOE, GRN, and TP53 are phenotype modifiers in frontotemporal dementia

    Neurobiology of Aging, Vol. 99, pp. 99.e15-99.e22

2016

  1. Assessing the role of TUBA4A gene in frontotemporal degeneration

    Neurobiology of Aging, Vol. 38, pp. 215.e13-215.e14

2015

  1. Analysis of the CHCHD10 gene in patients with frontotemporal dementia and amyotrophic lateral sclerosis from Spain

    Brain

  2. MAPT H1 haplotype is associated with late-onset Alzheimer's disease risk in APOE ε 4 noncarriers: Results from the dementia genetics Spanish consortium

    Journal of Alzheimer's Disease, Vol. 49, Núm. 2, pp. 343-352

2014

  1. Assessing the role of the TREM2 p.R47H variant as a risk factor for Alzheimer's disease and frontotemporal dementia

    Neurobiology of Aging, Vol. 35, Núm. 2, pp. 444.e1-444.e4

2012

  1. Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus

    Molecular Genetics and Metabolism, Vol. 105, Núm. 3, pp. 525-527

2011

  1. Erratum: Pharmacogenetics of tacrolimus after renal transplantation: Analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes (Clinical Chemistry and Laboratory Medicine (2011) 49:5 (825-833))

    Clinical Chemistry and Laboratory Medicine

  2. KCNQ1 gene variants and risk of new-onset diabetes in tacrolimus-treated renal-transplanted patients

    Clinical Transplantation, Vol. 25, Núm. 3

  3. Pharmacogenetics of tacrolimus after renal transplantation: Analysis of polymorphisms in genes encoding 16 drug metabolizing enzymes

    Clinical Chemistry and Laboratory Medicine, Vol. 49, Núm. 5, pp. 825-833

2005

  1. Farmacogenética del sistema de la angiotensina en la nefropatía no diabética

    Nefrologia, Vol. 25, Núm. 4, pp. 381-386

2000

  1. Location of mutations within the PKD2 gene influences clinical outcome

    Kidney International

1999

  1. Comparison of phonotypes of polycystic kidney disease types 1 and 2

    Lancet, Vol. 353, Núm. 9147, pp. 103-107

1998

  1. Collagenase-3 expression is associated with advanced local invasion in human squamous cell carcinomas of the larynx

    Journal of Pathology, Vol. 186, Núm. 2, pp. 144-150