Overview

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

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
01/2017

Exome Sequencing and the Management of Neurometabolic Disorders.
The New England journal of medicine
DOI: 10.1056/nejmoa1515792
PubMed: 27276562
06/2016

Structure-based mutagenic analysis of mechanism and substrate specificity in mammalian glycosyltransferases: porcine ST3Gal-I.
Glycobiology
DOI: 10.1093/glycob/cwt001
PubMed: 23300007
05/2013

Structure and mechanism of the lipooligosaccharide sialyltransferase from Neisseria meningitidis.
The Journal of Biological Chemistry
DOI: 10.1074/jbc.m111.249920
PubMed: 21880735
10/2011

Structural insight into mammalian sialyltransferases.
Nature structural & molecular biology
DOI: 10.1038/nsmb.1685
PubMed: 19820709
11/2009

Structural 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
09/2009

Recent developments in glycoside synthesis with glycosynthases and thioglycoligases
Australian Journal of Chemistry
2009

Synthesis and bioorthogonal coupling chemistry of a novel cyclopentenone-containing unnatural tyrosine analogue.
Bioorganic chemistry
DOI: 10.1016/j.bioorg.2007.12.006
PubMed: 18272199
04/2008

Benzofuran-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
03/2008

A small-molecule probe for hepatitis C virus replication that blocks protein folding.
Chemistry & biology
DOI: 10.1016/j.chembiol.2006.08.010
PubMed: 17052609
10/2006

Bleomycin 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
09/2006

Peroxisome proliferator-activated receptor alpha antagonism inhibits hepatitis C virus replication.
Chemistry & biology
DOI: 10.1016/j.chembiol.2005.10.006
PubMed: 16426968
01/2006

Exploring new chemical space by stereocontrolled diversity-oriented synthesis.
Chemistry & biology
DOI: 10.1016/j.chembiol.2005.01.011
PubMed: 15734644
02/2005

Synthesis of (2)-Cytoxazone and (1)-epi-Cytoxazone: the chiral pool approach
Synthetic Communications
2005

Research
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 & Awards

2009-2012 - NSERC Postdoctoral Fellowship

2005 - Pfizer Award for Outstanding Achievement, Bio-Organic Gordon Research Conference

2014 - Linda Stevens Memorial Fund Garrod Conference Travel Award 2014