Publications in collaboration with researchers from Necker-Enfants Malades Hospital (50)

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. 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

  2. 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

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

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

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

    Pediatric Diabetes

  3. 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

  4. Postauthorization safety study of betaine anhydrous

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

2021

  1. Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

    Journal of Inherited Metabolic Disease, Vol. 44, Núm. 3, pp. 677-692

  2. 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

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

    BJS Open

  4. 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

  5. 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

2020

  1. Autoantibodies against type I IFNs in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

  2. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

  3. Epigenetic footprint enables molecular risk stratification of hepatoblastoma with clinical implications

    Journal of Hepatology, Vol. 73, Núm. 2, pp. 328-341

  4. Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

    Science, Vol. 370, Núm. 6515

2019

  1. Betaine anhydrous in homocystinuria: Results from the RoCH registry

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