Publicacions en col·laboració amb investigadors/es de Children's Hospital of Eastern Ontario (11)

2024

  1. 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

  2. Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA

    Hepatology (Baltimore, Md.), Vol. 79, Núm. 6, pp. 1279-1292

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. Subcutaneous dosing regimens of tocilizumab in children with systemic or polyarticular juvenile idiopathic arthritis

    Rheumatology (United Kingdom), Vol. 60, Núm. 10, pp. 4568-4580

  3. Survival Benefit for Individuals With Constitutional Mismatch Repair Deficiency Undergoing Surveillance

    Journal of Clinical Oncology, Vol. 39, Núm. 25, pp. 2779-2790

2019

  1. A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor

    Cancer Cell, Vol. 36, Núm. 1, pp. 51-67.e7

  2. A Scoping Review to Map Empirical Evidence Regarding Key Domains and Questions in the Clinical Pathway of Delirium in Palliative Care

    Journal of Pain and Symptom Management, Vol. 57, Núm. 3, pp. 661-681.e12

  3. Alterations in ALK/ROS1/NTRK/MET drive a group of infantile hemispheric gliomas

    Nature Communications, Vol. 10, Núm. 1

2018

  1. Reirradiation in patients with diffuse intrinsic pontine gliomas: The Canadian experience

    Pediatric Blood and Cancer, Vol. 65, Núm. 6

2016

  1. Phase II weekly vinblastine for chemotherapy-naïve children with progressive low-grade glioma: A Canadian pediatric brain tumor consortium study

    Journal of Clinical Oncology, Vol. 34, Núm. 29, pp. 3537-3543

2009

  1. SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

    Epilepsia, Vol. 50, Núm. 7, pp. 1670-1678