- Overview
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My research focuses on clinical applications of mass spectrometry, including the development of plasma and urine amino acid methods for diagnosis of inborn errors of metabolism.
I am actively involved in the validation of new technologies and assays for use in biochemical genetics and newborn screening laboratories.
- Publications
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Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.
Journal of inherited metabolic disease
DOI: 10.1007/s10545-016-9972-7
PubMed: 27671891
01/2017Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
DOI: 10.1056/nejmoa1515792
PubMed: 27276562
06/2016Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: porcine ST3Gal-I.
Glycobiology
DOI: 10.1093/glycob/cwt001
PubMed: 23300007
05/2013Structure and mechanism of the lipooligosaccharide sialyltransferase from Neisseria meningitidis.
The Journal of Biological Chemistry
DOI: 10.1074/jbc.m111.249920
PubMed: 21880735
10/2011Structural insight into mammalian sialyltransferases.
Nature structural & molecular biology
DOI: 10.1038/nsmb.1685
PubMed: 19820709
11/2009Structural and kinetic characterizations of the polysialic acid O-acetyltransferase OatWY from Neisseria meningitidis.
The Journal of biological chemistry
DOI: 10.1074/jbc.m109.006049
PubMed: 19525232
09/2009Recent developments in glycoside synthesis with glycosynthases and thioglycoligases
Australian Journal of Chemistry
2009Synthesis and bioorthogonal coupling chemistry of a novel cyclopentenone-containing unnatural tyrosine analogue.
Bioorganic chemistry
DOI: 10.1016/j.bioorg.2007.12.006
PubMed: 18272199
04/2008Benzofuran-derived cyclic beta-amino acid scaffold for building a diverse set of flavonoid-like probes and the discovery of a cell motility inhibitor.
Organic letters
DOI: 10.1021/ol800050g
PubMed: 18302395
03/2008A small-molecule probe for hepatitis C virus replication that blocks protein folding.
Chemistry & biology
DOI: 10.1016/j.chembiol.2006.08.010
PubMed: 17052609
10/2006Bleomycin is a potent small-molecule inhibitor of hepatitis C virus replication.
Chembiochem : a European journal of chemical biology
DOI: 10.1002/cbic.200600180
PubMed: 16888741
09/2006Peroxisome proliferator-activated receptor alpha antagonism inhibits hepatitis C virus replication.
Chemistry & biology
DOI: 10.1016/j.chembiol.2005.10.006
PubMed: 16426968
01/2006Exploring new chemical space by stereocontrolled diversity-oriented synthesis.
Chemistry & biology
DOI: 10.1016/j.chembiol.2005.01.011
PubMed: 15734644
02/2005Synthesis of (2)-Cytoxazone and (1)-epi-Cytoxazone: the chiral pool approach
Synthetic Communications
2005 - Research
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Grants
Rare Diseases: Models and Mechanisms Network: N-Acetylneuraminate pyruvate lyase (NPL) deficiency Functional validation in mouse, $20,000. Conivestigators: Dr. Clara van Karnebeek and Dr. Alexey Pshezhetsky
Rare Disease Foundation and BC Children’s Hospital Foundation (BCCHF): GBA2 validation, $3500. Coinvestigator: Dr. Gabriella Horvath
Honours & Awards2009-2012 - NSERC Postdoctoral Fellowship
2005 - Pfizer Award for Outstanding Achievement, Bio-Organic Gordon Research Conference
2014 - Linda Stevens Memorial Fund Garrod Conference Travel Award 2014
Congratulations CIHR Project Grant Recipients!
We are pleased to congratulate the BC Children's and BC Women's investigators who were awarded funding through the highly competitive Canadian Institutes of Health Research (CIHR) Project Grant Fall 2018 competition.
