[HTML][HTML] Exome sequencing and the management of neurometabolic disorders

M Tarailo-Graovac, C Shyr, CJ Ross… - … England Journal of …, 2016 - Mass Medical Soc
Background Whole-exome sequencing has transformed gene discovery and diagnosis in
rare diseases. Translation into disease-modifying treatments is challenging, particularly for …

The prognosis of childhood headache: a 20-year follow-up

P Brna, J Dooley, K Gordon… - Archives of pediatrics & …, 2005 - jamanetwork.com
Background Headaches affect most children and rank third among illness-related causes of
school absenteeism. Although the short-term outcome for most children appears favorable …

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

CDM Van Karnebeek, L Bonafé, XY Wen… - Nature Genetics, 2016 - nature.com
We identified biallelic mutations in NANS, the gene encoding the synthase for N-
acetylneuraminic acid (NeuNAc; sialic acid), in nine individuals with infantile-onset severe …

Predictors of severe illness in children with multisystem inflammatory syndrome after SARS-CoV-2 infection: a multicentre cohort study

J Merckx, S Cooke, T El Tal, A Bitnun, SK Morris… - CMAJ, 2022 - Can Med Assoc
Background: SARS-CoV-2 infection can lead to multisystem inflammatory syndrome in
children (MIS-C). We sought to investigate risk factors for admission to the intensive care unit …

[HTML][HTML] The impact of the COVID-19 pandemic on children with medical complexity

C Diskin, F Buchanan, E Cohen, T Dewan, T Diaczun… - BMC pediatrics, 2022 - Springer
Background Descriptions of the COVID-19 pandemic's indirect consequences on children
are emerging. We aimed to describe the impacts of the pandemic on children with medical …

[PDF][PDF] Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability

B Cogné, S Ehresmann, E Beauregard-Lacroix… - The American Journal of …, 2019 - cell.com
Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major
role in regulation of eukaryotic gene expression. This process is controlled by histone …

Optimising the process for conducting scoping reviews

C Pawliuk, HL Brown, K Widger, T Dewan… - BMJ Evidence-Based …, 2021 - ebm.bmj.com
Knowledge synthesis constitutes a key part of evidence-based medicine and a scoping
review is a type of knowledge synthesis that maps the breadth of literature on a topic …

Care coordination of children with neurodevelopmental disabilities and medical complexity during the COVID‐19 pandemic: Caregiver experiences

G Currie, D Materula, N Gall, G Lachuk… - Child: Care, Health …, 2023 - Wiley Online Library
Background The COVID‐19 pandemic and subsequent public health restrictions created
significant challenges for children with neurodevelopmental disabilities with medical …

[HTML][HTML] A systematic review of self and observer assessment of pain and related functioning in youth with brain-based developmental disabilities

S Noyek, JS Jessa, V Faulkner, KE Boerner, T Dewan… - Pain, 2024 - journals.lww.com
Pain experiences of youth with brain-based developmental disabilities are often overlooked
and/or misinterpreted, increasing the risk for poor or inadequate pain assessment and …

[HTML][HTML] Risk factors for severe PCR-positive SARS-CoV-2 infection in hospitalised children

T Schober, C Caya, M Barton, A Bayliss… - BMJ paediatrics …, 2022 - ncbi.nlm.nih.gov
Original research: Risk factors for severe PCR-positive SARS-CoV-2 infection in hospitalised
children - PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI Homepage …