Publicaciones en colaboración con investigadores/as de Hospital Vall d'Hebron (21)

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. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486

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

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

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

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

2021

  1. ACE gene I/D polymorphism and severity of SARS-CoV-2 infection in hospitalized patients: a meta-analysis

    Arterial Hypertension (Poland), Vol. 25, Núm. 3, pp. 112-118

  2. Distal renal tubular acidosis: ERKNet/ESPN clinical practice points

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 36, Núm. 9, pp. 1585-1596

2019

  1. Effects of long-term cysteamine treatment in patients with cystinosis

    Pediatric Nephrology, Vol. 34, Núm. 4, pp. 571-578

  2. Management of bone disease in cystinosis: Statement from an international conference

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 5, pp. 1019-1029

  3. Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

    Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086

2017

  1. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

    PLoS ONE, Vol. 12, Núm. 3

2016

  1. Primary distal renal tubular acidosis: Novel findings in patients studied by next-generation sequencing

    Pediatric Research, Vol. 79, Núm. 3, pp. 496-501

2015

  1. Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: Successful in children and a challenge in adolescents and adults

    Nephrology Dialysis Transplantation, Vol. 30, Núm. 3, pp. 475-480

  2. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

    European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385

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

2013

  1. Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

    PLoS ONE, Vol. 8, Núm. 1

  2. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

    PLoS ONE, Vol. 8, Núm. 9

  3. SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V

    Clinical Genetics, Vol. 83, Núm. 3, pp. 257-262

2012

  1. Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia

    Journal of Neurology, Vol. 259, Núm. 2, pp. 246-250

2010

  1. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

    BMC Neurology, Vol. 10