Publicacións en colaboración con investigadores/as de University Medical Center Freiburg (31)

2024

  1. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders

    Genetics in Medicine, Vol. 26, Núm. 4

2022

  1. A collaborative exercise on DNA methylation-based age prediction and body fluid typing

    Forensic Science International: Genetics, Vol. 57

  2. Development and Pilot Test of the Registry Evaluation and Quality Standards Tool: An Information Technology–Based Tool to Support and Review Registries

    Value in Health, Vol. 25, Núm. 8, pp. 1390-1398

  3. Improving empiric antibiotic prescribing in pediatric bloodstream infections: a potential application of weighted-incidence syndromic combination antibiograms (WISCA)

    Expert Review of Anti-Infective Therapy, Vol. 20, Núm. 3, pp. 445-456

2021

  1. Aetiology of acute respiratory infection in preschool children requiring hospitalisation in Europe-results from the PED-MERMAIDS multicentre case-control study

    BMJ Open Respiratory Research, Vol. 8, Núm. 1

  2. Extremely Preterm Infant Admissions Within the SafeBoosC-III Consortium During the COVID-19 Lockdown

    Frontiers in Pediatrics, Vol. 9

  3. Glycogen storage disease type Ia: Current management options, burden and unmet needs

    Nutrients, Vol. 13, Núm. 11

  4. Long-term safety and outcomes in hereditary tyrosinaemia type 1 with nitisinone treatment: a 15-year non-interventional, multicentre study

    The Lancet Diabetes and Endocrinology, Vol. 9, Núm. 7, pp. 427-435

2017

  1. Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia

    Nature Communications, Vol. 8

  2. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 1, pp. 21-48

2015

  1. Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

2014

  1. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

    Forensic Science International: Genetics, Vol. 12, pp. 12-23

  2. Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

  3. Managing hyperglycemia in patients with Cushing's disease treated with pasireotide: Medical expert recommendations

    Pituitary, Vol. 17, Núm. 2, pp. 180-186

  4. Synaptic, transcriptional and chromatin genes disrupted in autism

    Nature, Vol. 515, Núm. 7526, pp. 209-215

2013

  1. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia

    Nature Genetics, Vol. 45, Núm. 8, pp. 868-876

2012

  1. A cautionary note on switching mitochondrial DNA reference sequences in forensic genetics

    Forensic Science International: Genetics

2010

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

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

2009

  1. Osteomyelitis of the mandible following third molar surgery: A regrettable consequence in a healthy patient

    Quintessence International, Vol. 40, Núm. 5, pp. 351-354

2008

  1. Speech and swallowing impairment after treatment for oral and oropharyngeal cancer

    Archives of Otolaryngology - Head and Neck Surgery, Vol. 134, Núm. 12, pp. 1299-1304