| # | Title | Journal | Year | Citations |
|---|
| 1 | Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study | Lancet, The | 2016 | 801 |
| 2 | Larotrectinib in patients with TRK fusion-positive solid tumours: a pooled analysis of three phase 1/2 clinical trials | Lancet Oncology, The | 2020 | 608 |
| 3 | Larotrectinib for paediatric solid tumours harbouring NTRK gene fusions: phase 1 results from a multicentre, open-label, phase 1/2 study | Lancet Oncology, The | 2018 | 419 |
| 4 | Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study | Neuromuscular Disorders | 2019 | 401 |
| 5 | A Next-Generation TRK Kinase Inhibitor Overcomes Acquired Resistance to Prior TRK Kinase Inhibition in Patients with TRK Fusion–Positive Solid Tumors | Cancer Discovery | 2017 | 331 |
| 6 | Natural history of infantile‐onset spinal muscular atrophy | Annals of Neurology | 2017 | 276 |
| 7 | CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis | Journal of Neurology, Neurosurgery and Psychiatry | 2015 | 249 |
| 8 | Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases | Nature Medicine | 2015 | 212 |
| 9 | PEDSnet: a National Pediatric Learning Health System | Journal of the American Medical Informatics Association: JAMIA | 2014 | 168 |
| 10 | Revised upper limb module for spinal muscular atrophy: Development of a new module | Muscle and Nerve | 2017 | 166 |
| 11 | Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): a double-blind randomised placebo-controlled phase 3 trial | Lancet, The | 2015 | 160 |
| 12 | Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C19 and Proton Pump Inhibitor Dosing | Clinical Pharmacology and Therapeutics | 2021 | 157 |
| 13 | High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders | Journal of Allergy and Clinical Immunology | 2013 | 150 |
| 14 | Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium | Orphanet Journal of Rare Diseases | 2019 | 149 |
| 15 | HLA-DRB1*11and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis | Proceedings of the National Academy of Sciences of the United States of America | 2015 | 139 |
| 16 | Neurofilament as a potential biomarker for spinal muscular atrophy | Annals of Clinical and Translational Neurology | 2019 | 137 |
| 17 | Multicenter prospective longitudinal study of magnetic resonance biomarkers in a large duchenne muscular dystrophy cohort | Annals of Neurology | 2016 | 131 |
| 18 | Gut microbiota, the immune system, and diet influence the neonatal gut–brain axis | Pediatric Research | 2015 | 126 |
| 19 | Characterization of pulmonary function in Duchenne Muscular Dystrophy | Pediatric Pulmonology | 2015 | 116 |
| 20 | Being Overweight or Obese and the Development of Asthma | Pediatrics | 2018 | 108 |
| 21 | Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study | Annals of Clinical and Translational Neurology | 2016 | 106 |
| 22 | An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge | Genome Biology | 2014 | 101 |
| 23 | Feasibility of pediatric obesity and prediabetes treatment support through Tess, the AI behavioral coaching chatbot | Translational Behavioral Medicine | 2019 | 101 |
| 24 | Hepatic natural killer T‐cell and CD8+ T‐cell signatures in mice with nonalcoholic steatohepatitis | Hepatology Communications | 2017 | 100 |
| 25 | The use of neoadjuvant larotrectinib in the management of children with locally advanced TRK fusion sarcomas | Cancer | 2018 | 100 |
| 26 | European Respiratory Society guideline on long-term management of children with bronchopulmonary dysplasia | European Respiratory Journal | 2020 | 99 |
| 27 | Infantile Fibrosarcoma With NTRK3–ETV6 Fusion Successfully Treated With the Tropomyosin‐Related Kinase Inhibitor LOXO‐101 | Pediatric Blood and Cancer | 2016 | 97 |
| 28 | Identification of NTRK fusions in pediatric mesenchymal tumors | Pediatric Blood and Cancer | 2017 | 92 |
| 29 | Early‐life antibiotic exposure increases the risk of developing allergic symptoms later in life: A meta‐analysis | Allergy: European Journal of Allergy and Clinical Immunology | 2018 | 90 |
| 30 | Childhood obesity in relation to poor asthma control and exacerbation: a meta-analysis | European Respiratory Journal | 2016 | 89 |
| 31 | Targeting Inflammatory Cytokines and Extracellular Matrix Composition to Promote Wound Regeneration | Advances in Wound Care | 2014 | 85 |
| 32 | Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome | American Journal of Human Genetics | 2017 | 83 |
| 33 | Prospective, comparative effectiveness trial of cow's milk elimination and swallowed fluticasone for pediatric eosinophilic esophagitis | Ecological Management and Restoration | 2016 | 81 |
| 34 | Characterization of the Risks of Adverse Outcomes Following Rubella Infection in Pregnancy | Risk Analysis | 2016 | 81 |
| 35 | Genotype–phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in theMPZgene | Brain | 2015 | 80 |
| 36 | Life-threatening complications and mortality of minimally invasive pectus surgery | Journal of Pediatric Surgery | 2018 | 80 |
| 37 | Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome | American Journal of Human Genetics | 2018 | 73 |
| 38 | Effect of increasing depth of dexmedetomidine and propofol anesthesia on upper airway morphology in children and adolescents with obstructive sleep apnea | Journal of Clinical Anesthesia | 2013 | 71 |
| 39 | Phenotypic Variability of Childhood Charcot-Marie-Tooth Disease | JAMA Neurology | 2016 | 71 |
| 40 | A molecular biology and phase II study of imetelstat (GRN163L) in children with recurrent or refractory central nervous system malignancies: a pediatric brain tumor consortium study | Journal of Neuro-Oncology | 2016 | 69 |
| 41 | Phase IIa trial in Duchenne muscular dystrophy shows vamorolone is a first-in-class dissociative steroidal anti-inflammatory drug | Pharmacological Research | 2018 | 69 |
| 42 | An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials | CNS Drugs | 2019 | 69 |
| 43 | PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights | Brain | 2019 | 67 |
| 44 | Ambulatory function in spinal muscular atrophy: Age-related patterns of progression | PLoS ONE | 2018 | 65 |
| 45 | Low-Dose Fetal CT in the Prenatal Evaluation of Skeletal Dysplasias and Other Severe Skeletal Abnormalities | American Journal of Roentgenology | 2013 | 63 |
| 46 | Quality of life in children with Type 1 diabetes: a comparison of general and diabetes‐specific measures and support for a unitary diabetes quality‐of‐life construct | Diabetic Medicine | 2008 | 62 |
| 47 | Health‐Related Quality of Life Over Time in Children With Eosinophilic Esophagitis and Their Families | Journal of Pediatric Gastroenterology and Nutrition | 2014 | 62 |
| 48 | Nusinersen improves walking distance and reduces fatigue in later‐onset spinal muscular atrophy | Muscle and Nerve | 2019 | 62 |
| 49 | Clinical Trial and Postmarketing Safety of Onasemnogene Abeparvovec Therapy | Drug Safety | 2021 | 62 |
| 50 | Revised upper limb module for spinal muscular atrophy: 12 month changes | Muscle and Nerve | 2019 | 61 |
