Children's Hospital of Philadelphia

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024) Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al. Journal article A Day 14 Endpoint for Acute GVHD Clinical Trials (2024) Spyrou N, Akahoshi Y, Kowalyk S, Morales G, Beheshti R, Aguayo-Hiraldo P, Al Malki MM, et al. Journal article Phase 2 study of natalizumab plus standard corticosteroid treatment for high-risk acute graft-versus-host disease (2023) Al Malki MM, London K, Baez J, Akahoshi Y, Hogan WJ, Etra A, Choe H, et al. Journal article The utility of biomarkers in acute GVHD prognostication (2023) Spyrou N, Akahoshi Y, Ayuk F, Holler E, Choe H, Etra A, Hogan WJ, et al. Journal article Incidence, clinical presentation, risk factors, outcomes, and biomarkers in de novo late acute GVHD (2023) Akahoshi Y, Spyrou N, Hogan WJ, Ayuk F, DeFilipp Z, Weber D, Choe HK, et al. Journal article Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article Response to Letter to the Editor From Viru-Loza and Chavez-Nomberto: "Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort " (2023) Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibanez L, Carlsson M, Cutfield W, et al. Journal article, Letter Safety and Efficacy of Pediatric Growth Hormone Therapy: Results From the Full KIGS Cohort (2022) Maghnie M, Ranke MB, Geffner ME, Vlachopapadopoulou E, Ibanez L, Carlsson M, Cutfield W, et al. Journal article Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors (2022) Alves CA, Sherbini O, D’Arco F, Steel D, Kurian MA, Radio FC, Ferrero GB, et al. Journal article