Publicaciones en colaboración con investigadores/as de University College London (36)

2024

  1. TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43

    Neurobiology of Disease, Vol. 193

2023

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

    Nature

  2. Benchmarking of human Y-chromosomal haplogroup classifiers with whole-genome and whole-exome sequence data

    Computational and Structural Biotechnology Journal, Vol. 21, pp. 4613-4618

  3. GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

    Nature, Vol. 617, Núm. 7962, pp. 764-768

  4. The causal relationship between gastro-oesophageal reflux disease and idiopathic pulmonary fibrosis: a bidirectional two-sample Mendelian randomisation study

    European Respiratory Journal, Vol. 61, Núm. 5

2021

  1. A report from the European Hyperoxaluria Consortium (OxalEurope) Registry on a large cohort of patients with primary hyperoxaluria type 3

    Kidney International

  2. Comparison of flipped learning and traditional lecture method for teaching digestive system diseases in undergraduate medicine: A prospective non-randomized controlled trial

    Medical Teacher, Vol. 43, Núm. 4, pp. 463-471

  3. Complete mitogenome in a population sample from Cameroon

    Forensic Science International: Genetics

  4. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

2020

  1. Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis

    American Journal of Respiratory and Critical Care Medicine, Vol. 201, Núm. 5, pp. 564-574

2019

  1. Patients with primary hyperoxaluria type 2 have significant morbidity and require careful follow-up

    Kidney International, Vol. 96, Núm. 6, pp. 1389-1399

2018

  1. A genetic modifier suggests that endurance exercise exacerbates Huntington's disease

    Human Molecular Genetics, Vol. 27, Núm. 10, pp. 1723-1731

  2. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis

    EMBO Journal, Vol. 37, Núm. 11

  3. TDP-43 mutations increase HNRNP A1-7B through gain of splicing function

    Brain

2017

  1. Genetic variants associated with susceptibility to idiopathic pulmonary fibrosis in people of European ancestry: a genome-wide association study

    The Lancet Respiratory Medicine, Vol. 5, Núm. 11, pp. 869-880

  2. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice

    Brain, Vol. 140, Núm. 11, pp. 2797-2805

2016

  1. Deficiency of the zinc finger protein ZFP106 causes motor and sensory neurodegeneration

    Human Molecular Genetics, Vol. 25, Núm. 2, pp. 291-307

  2. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  3. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

2014

  1. Fatty kidney: Emerging role of ectopic lipid in obesity-related renal disease

    The Lancet Diabetes and Endocrinology, Vol. 2, Núm. 5, pp. 417-426