Publicacións en colaboración con investigadores/as de University of Innsbruck (85)

2024

  1. Brain function in classic galactosemia, a galactosemia network (GalNet) members review

    Frontiers in Genetics

  2. Comprehensive analysis of constitutional mismatch repair deficiency-associated non-Hodgkin lymphomas in a global cohort

    Pediatric Blood and Cancer

  3. Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

    The Journal of experimental medicine, Vol. 221, Núm. 2

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

    Genetics in Medicine, Vol. 26, Núm. 4

2023

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

    Nature

  2. Diminishing benefits of urban living for children and adolescents’ growth and development

    Nature, Vol. 615, Núm. 7954, pp. 874-883

  3. Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c

    Nature Medicine, Vol. 29, Núm. 11, pp. 2885-2901

  4. Special issue: Forensic Genetics: Unde venisti et quo vadis?

    Forensic Science International: Genetics

2022

  1. CovidPhy: A tool for phylogeographic analysis of SARS-CoV-2 variation

    Environmental Research, Vol. 204

  2. Galactose epimerase deficiency: lessons from the GalNet registry

    Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 331

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. Contamination detection in sequencing studies using the mitochondrial phylogeny

    Genome Research, Vol. 31, Núm. 2, pp. 309-316

  3. Development and evaluation of the ancestry informative marker panel of the visage basic tool

    Genes, Vol. 12, Núm. 8

  4. Galactokinase deficiency: lessons from the GalNet registry

    Genetics in Medicine, Vol. 23, Núm. 1, pp. 202-210

  5. Heterogeneous contributions of change in population distribution of body mass index to change in obesity and underweight

    eLife, Vol. 10

  6. Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019

    Familial Cancer, Vol. 20, Núm. 1, pp. 67-73

2020

  1. Broadening the Applicability of a Custom Multi-Platform Panel of Microhaplotypes: Bio-Geographical Ancestry Inference and Expanded Reference Data

    Frontiers in Genetics, Vol. 11

  2. Building a custom large-scale panel of novel microhaplotypes for forensic identification using MiSeq and Ion S5 massively parallel sequencing systems

    Forensic Science International: Genetics, Vol. 45

  3. Extraordinary claims require extraordinary evidence in asserted mtDNA biparental inheritance

    Forensic Science International: Genetics, Vol. 47

  4. Levosimendan Efficacy and Safety: 20 Years of SIMDAX in Clinical Use

    Journal of cardiovascular pharmacology, Vol. 76, Núm. 1, pp. 4-22