Publicaciones en colaboración con investigadores/as de Children's Hospital of Philadelphia (28)

2024

  1. A road map for the treatment of pediatric diffuse midline glioma

    Cancer Cell

  2. Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study

    The Lancet Oncology, Vol. 25, Núm. 5, pp. 668-682

2023

  1. Clinical Efficacy of ONC201 in H3K27M-Mutant Diffuse Midline Gliomas Is Driven by Disruption of Integrated Metabolic and Epigenetic Pathways

    Cancer Discovery, Vol. 13, Núm. 11, pp. 2370-2393

  2. 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

  3. Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)

    Nature

  4. Outcomes of Infants and Young Children With Relapsed Medulloblastoma After Initial Craniospinal Irradiation Sparing Approaches: An International Cohort Study

    Journal of Clinical Oncology, Vol. 41, Núm. 10, pp. 1921-1932

  5. Viral vector–mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome

    Journal of Clinical Investigation, Vol. 133, Núm. 12

2022

  1. Consensus-Based Technical Recommendations for Clinical Translation of Renal Phase Contrast MRI

    Journal of Magnetic Resonance Imaging, Vol. 55, Núm. 2, pp. 323-335

2021

  1. Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C

    Journal of Clinical Endocrinology and Metabolism, Vol. 106, Núm. 2, pp. E660-E674

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

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

  3. Mapping the human genetic architecture of COVID-19

    Nature, Vol. 600, Núm. 7889, pp. 472-477

  4. Tofacitinib in juvenile idiopathic arthritis: a double-blind, placebo-controlled, withdrawal phase 3 randomised trial

    The Lancet, Vol. 398, Núm. 10315, pp. 1984-1996

2020

  1. Integrated Molecular and Clinical Analysis of 1,000 Pediatric Low-Grade Gliomas

    Cancer Cell, Vol. 37, Núm. 4, pp. 569-583.e5

2019

  1. Nutrition and its role in human evolution

    Journal of Internal Medicine, Vol. 285, Núm. 5, pp. 533-549

2018

  1. Heterogeneity within the PF-EPN-B ependymoma subgroup

    Acta Neuropathologica, Vol. 136, Núm. 2, pp. 227-237

  2. Reprogramming human T cell function and specificity with non-viral genome targeting

    Nature, Vol. 559, Núm. 7714, pp. 405-409

2016

  1. Therapeutic impact of cytoreductive surgery and irradiation of posterior fossa ependymoma in the molecular era: A retrospective multicohort analysis

    Journal of Clinical Oncology, Vol. 34, Núm. 21, pp. 2468-2477

2015

  1. Convergent genetic and expression data implicate immunity in Alzheimer's disease

    Alzheimer's and Dementia, Vol. 11, Núm. 6, pp. 658-671

  2. Group 3 innate lymphoid cells mediate intestinal selection of commensal bacteria-specific CD4+ T cells

    Science, Vol. 348, Núm. 6238, pp. 1031-1035

2014

  1. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

    PLoS ONE, Vol. 9, Núm. 6