Publicacións en colaboración con investigadores/as de Medical University of Vienna (23)

2024

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

    Frontiers in Genetics

2023

  1. Erratum: Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores (Nature communications (2021) 12 1 (3417))

    Nature communications

2022

  1. Galactose epimerase deficiency: lessons from the GalNet registry

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

  2. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

    Acta Neuropathologica, Vol. 144, Núm. 5, pp. 821-842

  3. New insights into the genetic etiology of Alzheimer's disease and related dementias

    Nature genetics, Vol. 54, Núm. 4, pp. 412-436

2021

  1. Cognitive functioning throughout adulthood and illness stages in individuals with psychotic disorders and their unaffected siblings

    Molecular Psychiatry, Vol. 26, Núm. 8, pp. 4529-4543

  2. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

    Nature communications, Vol. 12, Núm. 1, pp. 3417

  3. Galactokinase deficiency: lessons from the GalNet registry

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

2020

  1. Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study

    The Lancet Neurology, Vol. 19, Núm. 10, pp. 840-848

2019

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

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

  2. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352

  3. The natural history of classic galactosemia: Lessons from the GalNet registry

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

2018

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2014

  1. DNA Commission of the International Society for Forensic Genetics: Revised and extended guidelines for mitochondrial DNA typing

    Forensic Science International: Genetics, Vol. 13, pp. 134-142

  2. Identifying gene-environment interactions in schizophrenia: Contemporary challenges for integrated, large-scale investigations

    Schizophrenia Bulletin, Vol. 40, Núm. 4, pp. 729-736

2011

  1. Prognostic impact of morphologic and phenotypic features of childhood ALK-positive anaplastic large-cell lymphoma: Results of the ALCL99 Study

    Journal of Clinical Oncology, Vol. 29, Núm. 35, pp. 4669-4676

2010

  1. The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)

    Molecular Genetics and Metabolism, Vol. 100, Núm. 1, pp. 42-45

2009

  1. Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: Sequence variation, repeat structure, and nomenclature

    International Journal of Legal Medicine, Vol. 123, Núm. 5, pp. 403-412

  2. X-chromosome STR sequence variation, repeat structure, and nomenclature in humans and chimpanzees

    International Journal of Legal Medicine, Vol. 123, Núm. 2, pp. 143-149