Publicaciones en colaboración con investigadores/as de Necker-Enfants Malades Hospital (48)

2024

  1. Development and external validation of the 'Global Surgical-Site Infection' (GloSSI) predictive model in adult patients undergoing gastrointestinal surgery

    British Journal of Surgery, Vol. 111, Núm. 6

  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. Correction: “The 5th edition of The World Health Organization Classification of Haematolymphoid Tumours: Lymphoid Neoplasms” Leukemia. 2022 Jul;36(7):1720–1748 (Leukemia, (2022), 36, 7, (1720-1748), 10.1038/s41375-022-01620-2)

    Leukemia

  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

2022

  1. Genomic profiling for clinical decision making in lymphoid neoplasms

    Blood

  2. The alternative RelB NF-κB subunit is a novel critical player in diffuse large B-cell lymphoma

    Blood, Vol. 139, Núm. 3, pp. 384-398

2021

  1. Efficacy of topical ropivacaine in children and young adults with hereditary epidermolysis bullosa

    British Journal of Dermatology, Vol. 184, Núm. 3, pp. 550-552

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

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

  3. Management of albinism: French guidelines for diagnosis and care

    Journal of the European Academy of Dermatology and Venereology, Vol. 35, Núm. 7, pp. 1449-1459

  4. Tapering Canakinumab Monotherapy in Patients With Systemic Juvenile Idiopathic Arthritis in Clinical Remission: Results From a Phase IIIb/IV Open-Label, Randomized Study

    Arthritis and Rheumatology, Vol. 73, Núm. 2, pp. 336-346

  5. The p.E152K-STIM1 mutation deregulates Ca2+ signaling contributing to chronic pancreatitis

    Journal of Cell Science, Vol. 134, Núm. 3

2020

  1. Fenfluramine for Treatment-Resistant Seizures in Patients with Dravet Syndrome Receiving Stiripentol-Inclusive Regimens: A Randomized Clinical Trial

    JAMA Neurology, Vol. 77, Núm. 3, pp. 300-308

2019

  1. ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype

    Experimental Dermatology, Vol. 28, Núm. 10, pp. 1142-1145

  2. Correction: Arterial tortuosity syndrome: 40 new families and literature review (Genetics in Medicine, (2018), 20, 10, (1236-1245), 10.1038/gim.2017.253)

    Genetics in Medicine

2018

  1. Arterial tortuosity syndrome: 40 new families and literature review

    Genetics in Medicine, Vol. 20, Núm. 10, pp. 1236-1245

  2. Automated database-guided expert-supervised orientation for immunophenotypic diagnosis and classification of acute leukemia

    Leukemia, Vol. 32, Núm. 4, pp. 874-881

  3. Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

    Journal of Clinical Immunology, Vol. 38, Núm. 4, pp. 513-526

2017

  1. A new case of congenital malabsorptive diarrhea and diabetes secondary to mutant Neurogenin-3

    Pediatrics, Vol. 140, Núm. 2

  2. Long-term survival of patients with CLL after allogeneic transplantation: A report from the European Society for Blood and Marrow Transplantation

    Bone Marrow Transplantation, Vol. 52, Núm. 3, pp. 372-380

2016

  1. Mortality of emergency abdominal surgery in high-, middle- and low-income countries

    British Journal of Surgery, Vol. 103, Núm. 8, pp. 971-988