Publicaciones en colaboración con investigadores/as de Hospital for Sick Children (80)

2024

  1. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

    Clinical chemistry, Vol. 70, Núm. 5, pp. 737-746

  2. Approach to Mycosis Fungoides in children: Consensus-based recommendations

    Journal of the American Academy of Dermatology

  3. At-admission prediction of mortality and pulmonary embolism in an international cohort of hospitalised patients with COVID-19 using statistical and machine learning methods

    Scientific Reports, Vol. 14, Núm. 1

  4. Characteristics and Outcomes of Children and Young Adults With Sepsis Requiring Continuous Renal Replacement Therapy: A Comparative Analysis From the Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Disease (WE-ROCK)

    Critical Care Medicine

  5. Continuous Kidney Replacement Therapy and Survival in Children and Young Adults: Findings From the Multinational WE-ROCK Collaborative

    American Journal of Kidney Diseases, Vol. 84, Núm. 4, pp. 406-415.e1

  6. Developing Therapies for C3 Glomerulopathy Report of the Kidney Health Initiative C3 Glomerulopathy Trial Endpoints Work Group

    Clinical Journal of the American Society of Nephrology, Vol. 19, Núm. 9, pp. 1201-1208

  7. Large-scale analysis of structural brain asymmetries during neurodevelopment: Associations with age and sex in 4265 children and adolescents

    Human Brain Mapping, Vol. 45, Núm. 11

  8. The Association Between Vasopressin and Adverse Kidney Outcomes in Children and Young Adults Requiring Vasopressors on Continuous Renal Replacement Therapy

    Critical Care Explorations, Vol. 6, Núm. 10, pp. e1156

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

  2. Chylothorax in newborns after cardiac surgery: a rare complication?

    European Journal of Pediatrics, Vol. 182, Núm. 4, pp. 1569-1578

  3. Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Disease (WE-ROCK)

    Kidney International Reports, Vol. 8, Núm. 8, pp. 1542-1552

2022

  1. A clinically compatible drug-screening platform based on organotypic cultures identifies vulnerabilities to prevent and treat brain metastasis

    EMBO molecular medicine, Vol. 14, Núm. 3, pp. e14552

  2. A normative chart for cognitive development in a genetically selected population

    Neuropsychopharmacology, Vol. 47, Núm. 7, pp. 1379-1386

  3. Accuracy of Xpert Ultra for the diagnosis of paediatric tuberculosis in a low TB burden country: a prospective multicentre study

    Thorax, Vol. 77, Núm. 10, pp. 1023-1029

  4. Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure

    Human Brain Mapping, Vol. 43, Núm. 1, pp. 37-55

  5. Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

    Journal of Clinical Immunology, Vol. 42, Núm. 8, pp. 1748-1765

  6. Effect of disease related biases on the subjective assessment of social functioning in Alzheimer's disease and schizophrenia patients

    Journal of Psychiatric Research, Vol. 145, pp. 302-308

  7. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs

    Human Brain Mapping, Vol. 43, Núm. 1, pp. 300-328

  8. FXR1 -related congenital myopathy: expansion of the clinical and genetic spectrum

    Journal of Medical Genetics, Vol. 59, Núm. 11, pp. 1069-1074

  9. ISARIC-COVID-19 dataset: A Prospective, Standardized, Global Dataset of Patients Hospitalized with COVID-19

    Scientific Data, Vol. 9, Núm. 1