Publikationen in Zusammenarbeit mit Forschern von Pierre and Marie Curie University (44)

2024

  1. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

  2. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

    Human Genetics and Genomics Advances, Vol. 5, Núm. 3

2023

  1. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

2022

  1. An international multicenter propensity-score matched and coarsened-exact matched analysis comparing robotic versus laparoscopic partial liver resections of the anterolateral segments

    Journal of Hepato-Biliary-Pancreatic Sciences, Vol. 29, Núm. 8, pp. 843-854

  2. Factors associated with and impact of open conversion on the outcomes of minimally invasive left lateral sectionectomies: An international multicenter study

    Surgery (United States), Vol. 172, Núm. 2, pp. 617-624

  3. Factors associated with clinical progression to severe COVID-19 in people with cystic fibrosis: A global observational study

    Journal of Cystic Fibrosis, Vol. 21, Núm. 4, pp. e221-e231

  4. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

  5. Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study

    Nephrology Dialysis Transplantation, Vol. 37, Núm. 12, pp. 2474-2486

  6. Postauthorization safety study of betaine anhydrous

    Journal of Inherited Metabolic Disease, Vol. 45, Núm. 4, pp. 719-733

  7. Propensity Score-Matched Analysis Comparing Robotic and Laparoscopic Right and Extended Right Hepatectomy

    JAMA Surgery, Vol. 157, Núm. 5, pp. 436-444

  8. Robotic and laparoscopic right anterior sectionectomy and central hepatectomy: multicentre propensity score-matched analysis

    The British journal of surgery, Vol. 109, Núm. 4, pp. 311-314

  9. TP53 Abnormalities Are Underlying the Poor Outcome Associated with Chromothripsis in Chronic Lymphocytic Leukemia Patients with Complex Karyotype

    Cancers, Vol. 14, Núm. 15

2021

  1. Biomarkers for Traumatic Brain Injury: Data Standards and Statistical Considerations

    Journal of Neurotrauma, Vol. 38, Núm. 18, pp. 2514-2529

  2. Clinical characteristics of SARS-CoV-2 infection in children with cystic fibrosis: An international observational study

    Journal of Cystic Fibrosis, Vol. 20, Núm. 1, pp. 25-30

  3. Collaborative Ocular Tuberculosis Study Consensus Guidelines on the Management of Tubercular Uveitis—Report 2: Guidelines for Initiating Antitubercular Therapy in Anterior Uveitis, Intermediate Uveitis, Panuveitis, and Retinal Vasculitis

    Ophthalmology, Vol. 128, Núm. 2, pp. 277-287

  4. Correction: Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment (Genetics in Medicine, (2020), 22, 11, (1851-1862), 10.1038/s41436-020-0899-x)

    Genetics in Medicine

  5. Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe

    ERJ Open Research, Vol. 7, Núm. 4

  6. Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Nature Communications, Vol. 12, Núm. 1

  7. Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

    Nature Communications, Vol. 12, Núm. 1

  8. Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020

    Journal of Cystic Fibrosis, Vol. 20, Núm. 4, pp. 566-577