ORCID Profile
0000-0002-6300-5381
Current Organisations
University of British Columbia Faculty of Medicine
,
Pacific Autism Family Network
,
Queen's University
,
BC Children's Hospital Research Institute
,
BC Children’s and Women’s Hospital
Does something not look right? The information on this page has been harvested from data sources that may not be up to date. We continue to work with information providers to improve coverage and quality. To report an issue, use the Feedback Form.
Related Links
Publications
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Publisher: BMJ
Date: 10-2012
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Publisher: Elsevier BV
Date: 2022
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
Publisher: American Association for the Advancement of Science (AAAS)
Date: 15-09-2010
DOI: 10.1126/SCITRANSLMED.3001267
Abstract: Mutations of the X-linked gene PTCHD1 are associated with autism spectrum disorders and intellectual disability.
Genome Plasticity of agr -Defective Staphylococcus aureus during Clinical Infection
Publisher: American Society for Microbiology
Date: 10-2018
DOI: 10.1128/IAI.00331-18
Abstract: Therapy for bacteremia caused by Staphylococcus aureus is often ineffective, even when treatment conditions are optimal according to experimental protocols. Adapted subclones, such as those bearing mutations that attenuate agr -mediated virulence activation, are associated with persistent infection and patient mortality.
Loss-of-function mutations inSCN4Acause severe foetal hypokinesia or ‘classical’ congenital myopathy
Publisher: Oxford University Press (OUP)
Date: 22-12-2015
DOI: 10.1093/BRAIN/AWV352
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Publisher: Hindawi Limited
Date: 21-08-2022
DOI: 10.1002/HUMU.24446
Abstract: An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been applied in clinical diagnosis of genetic syndromes. Episignatures are contained within the broader disorder-specific genome-wide DNA methylation changes, which can share significant overlap among different conditions. In this study, we performed functional genomic assessment and comparison of disorder-specific and overlapping genome-wide DNA methylation changes related to 65 genetic syndromes with previously described episignatures. We demonstrate evidence of disorder-specific and recurring genome-wide differentially methylated probes (DMPs) and regions (DMRs). The overall distribution of DMPs and DMRs across the majority of the neurodevelopmental genetic syndromes analyzed showed substantial enrichment in gene promoters and CpG islands, and under-representation of the more variable intergenic regions. Analysis showed significant enrichment of the DMPs and DMRs in gene pathways and processes related to neurodevelopment, including neurogenesis, synaptic signaling and synaptic transmission. This study expands beyond the diagnostic utility of DNA methylation episignatures by demonstrating correlation between the function of the mutated genes and the consequent genomic DNA methylation profiles as a key functional element in the molecular etiology of genetic neurodevelopmental disorders.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Publisher: Springer Science and Business Media LLC
Date: 31-08-2011
DOI: 10.1038/NATURE10406
Related Organisations
Related Funding Activities
No related grants have been discovered for Suzanne Lewis.