Publicacións en colaboración con investigadores/as de University Medical Center Freiburg (36)

2024

  1. Epidemiological and Clinical Insights into the Enterovirus D68 Upsurge in Europe 2021-2022 and Emergence of Novel B3-Derived Lineages, ENPEN Multicentre Study

    Journal of Infectious Diseases, Vol. 230, Núm. 4, pp. e917-e928

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

    Genetics in Medicine, Vol. 26, Núm. 4

2022

  1. Allogeneic hematopoietic cell transplantation in patients with myeloid/lymphoid neoplasm with FGFR1-rearrangement: a study of the Chronic Malignancies Working Party of EBMT

    Bone Marrow Transplantation, Vol. 57, Núm. 3, pp. 416-422

  2. Correction: Allogeneic hematopoietic cell transplantation in patients with myeloid/lymphoid neoplasm with FGFR1-rearrangement: a study of the Chronic Malignancies Working Party of EBMT (Bone Marrow Transplantation, (2022), 57, 3, (416-422), 10.1038/s41409-021-01553-x)

    Bone Marrow Transplantation

  3. 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

  4. European Association of Urology Section of Urolithiasis and International Alliance of Urolithiasis Joint Consensus on Retrograde Intrarenal Surgery for the Management of Renal Stones

    European Urology Focus, Vol. 8, Núm. 5, pp. 1461-1468

  5. 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

2019

  1. Addition of IMP3 to L1CAM for discrimination between low- and high-grade endometrial carcinomas: a European Network for Individualised Treatment of Endometrial Cancer collaboration study

    Human Pathology, Vol. 89, pp. 90-98

2018

  1. Added Value of Estrogen Receptor, Progesterone Receptor, and L1 Cell Adhesion Molecule Expression to Histology-Based Endometrial Carcinoma Recurrence Prediction Models: An ENITEC Collaboration Study

    International Journal of Gynecological Cancer, Vol. 28, Núm. 3, pp. 514-523

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

2016

  1. L1CAM expression in endometrial carcinomas: An ENITEC collaboration study

    British Journal of Cancer, Vol. 115, Núm. 6, pp. 716-724

2015

  1. Analysis of heritability and shared heritability based on genome-wide association studies for thirteen cancer types

    Journal of the National Cancer Institute, Vol. 107, Núm. 12

  2. 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