Children's Hospital of Eastern Ontario (CHEO) / Centre hospitalier pour enfants de l'est de l'Ontario


Location: Ottawa, Canada (CA) CA

ISNI: 0000000094026172



Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year




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 Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial (2024) Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, et al. Journal article Hybrid reflected-ultrasound computed tomography versus B-mode-ultrasound for muscle scoring in spinal muscular atrophy (2023) Danko V, Jüngert JM, Schüssler S, Bühler A, Klett D, Federle A, Roos A, et al. Journal article Global Matrix 4.0 Physical Activity Report Card Grades for Children and Adolescents: Results and Analyses From 57 Countries (2022) Aubert S, Barnes JD, Demchenko I, Hawthorne M, Abdeta C, Nader PA, Sala JCA, et al. Journal article MR imaging in children with transverse myelitis and acquired demyelinating syndromes (2022) El Naggar I, Cleaveland R, Wendel EM, Bertolini A, Schanda K, Karenfort M, Thiels C, et al. Journal article Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries (2022) Skoric-Milosavljevic D, Tadros R, Bosada FM, Tessadori F, Van Weerd JH, Woudstra O, Tjong FVY, et al. Journal article Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss (2021) Richard EM, Bakhtiari S, Marsh AP, Kaiyrzhanov R, Wagner M, Shetty S, Pagnozzi A, et al. Journal article