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
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Publisher: BMJ
Date: 10-2012
Publisher: Elsevier BV
Date: 2022
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.
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.
Publisher: Oxford University Press (OUP)
Date: 22-12-2015
DOI: 10.1093/BRAIN/AWV352
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.
Publisher: Springer Science and Business Media LLC
Date: 31-08-2011
DOI: 10.1038/NATURE10406
No related grants have been discovered for Suzanne Lewis.