Publicacións en colaboración con investigadores/as de Karolinska University Hospital (16)

2023

  1. Corrigendum to “Dissecting the genetic heterogeneity of gastric cancer” (eBioMedicine (2023) 92, (S2352396423001810), (10.1016/j.ebiom.2023.104616))

    eBioMedicine

  2. Dissecting the genetic heterogeneity of gastric cancer

    eBioMedicine, Vol. 92

2022

  1. A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

    Communications Biology, Vol. 5, Núm. 1

  2. Children living with HIV in Europe: do migrants have worse treatment outcomes?

    HIV Medicine, Vol. 23, Núm. 2, pp. 186-196

2021

  1. A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 5, pp. 1124-1135

  2. Treatment of Multisystem Inflammatory Syndrome in Children

    New England Journal of Medicine, Vol. 385, Núm. 1, pp. 11-22

  3. Variations in Neonatal Length of Stay of Babies Born Extremely Preterm: An International Comparison Between iNeo Networks

    Journal of Pediatrics, Vol. 233, pp. 26-32.e6

2020

  1. Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 726-736

  2. The impact of gender, puberty, and pregnancy in patients with POLG disease

    Annals of Clinical and Translational Neurology, Vol. 7, Núm. 10, pp. 2019-2025

2019

  1. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study

    Epilepsia Open, Vol. 4, Núm. 1, pp. 73-84

  2. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

2017

  1. ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

    Scientific Reports, Vol. 7

  2. Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial

    Clinical Endocrinology, Vol. 87, Núm. 4, pp. 350-358

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

2014

  1. Infections, antibiotic treatment and mortality in patients admitted to ICUs in countries considered to have high levels of antibiotic resistance compared to those with low levels

    BMC Infectious Diseases, Vol. 14, Núm. 1

2010

  1. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115