Children's Hospital of Philadelphia

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 Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling (2024) Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, et al. Journal article Novel MAGIC composite scores using both clinical symptoms and biomarkers best predict treatment outcomes of acute GVHD (2024) Akahoshi Y, Spyrou N, Weber D, Aguayo-Hiraldo P, Ayuk F, Chanswangphuwana C, Choe HK, et al. Journal article Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals (2024) Layo-Carris DE, Lubin EE, Sangree AK, Clark KJ, Durham EL, Gonzalez EM, Smith S, et al. Journal article Flares of acute graft-versus-host disease: a Mount Sinai Acute GVHD International Consortium analysis. (2024) Akahoshi Y, Spyrou N, Hoepting M, Aguayo-Hiraldo P, Ayuk F, Chanswangphuwana C, Choe HK, 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 Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1 (2023) Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, 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