Publikationen in Zusammenarbeit mit Forschern von Necker-Enfants Malades Hospital (78)

2024

  1. ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

    Blood, Vol. 144, Núm. 11, pp. 1193-1205

  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. Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology

    Clinical Genetics, Vol. 103, Núm. 1, pp. 114-118

  2. Efficacy of ceftazidime-avibactam in solid organ transplant recipients with bloodstream infections caused by carbapenemase-producing Klebsiella pneumoniae

    American Journal of Transplantation, Vol. 23, Núm. 7, pp. 1022-1034

  3. Improving outcomes of childhood and young adult non-Hodgkin lymphoma: 25 years of research and collaboration within the framework of the European Intergroup for Childhood Non-Hodgkin Lymphoma

    The Lancet Haematology, Vol. 10, Núm. 3, pp. e213-e224

  4. 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

  5. Rituximab-associated hypogammaglobulinemia in children with idiopathic nephrotic syndrome: results of an ESPN survey

    Pediatric Nephrology, Vol. 38, Núm. 9, pp. 3035-3042

  6. Treatment and long-term outcome in primary nephrogenic diabetes insipidus

    Nephrology Dialysis Transplantation, Vol. 38, Núm. 10, pp. 2120-2130

2022

  1. 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

  2. Genomic profiling for clinical decision making in lymphoid neoplasms

    Blood

  3. ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

    Pediatric Diabetes

  4. 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

  5. The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 119, Núm. 21

2021

  1. Association Between Laryngopharyngeal Reflux and Media Otitis: A Systematic Review

    Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, Vol. 42, Núm. 7, pp. e801-e814

  2. Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

    Science immunology, Vol. 6, Núm. 62

  3. Early vaginal progesterone versus placebo in twin pregnancies for the prevention of spontaneous preterm birth: a randomized, double-blind trial

    American Journal of Obstetrics and Gynecology, Vol. 224, Núm. 1, pp. 86.e1-86.e19

  4. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

    Autophagy, Vol. 17, Núm. 1, pp. 1-382

  5. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

  6. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

  7. Propensity score and desirability of outcome ranking analysis of ertapenem for treatment of nonsevere bacteremic urinary tract infections due to extended-spectrum-beta-lactamase-producing enterobacterales in kidney transplant recipients

    Antimicrobial Agents and Chemotherapy, Vol. 65, Núm. 11