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Derek A. Wong

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
2014 · Hane Lee, Joshua L. Deignan, et al. · JAMA · 973
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
2019 · Hane Lee, Alden Y. Huang, et al. · Genetics in Medicine · 224
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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
2020 · Laura Cif, Diane Demailly, et al. · Brain · 121
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Facioscapulohumeral Disease
2009 · Robert J. Desnick, Orlando Guntinas-Lichius, et al. · Springer eBooks · 96
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
2019 · Roland Posset, Andrea L. Gropman, et al. · Annals of Neurology · 73
Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency
2014 · Renata C. Gallagher, Christina Lam, et al. · The Journal of Pediatrics · 67
Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome
2010 · Jeff M. Milunsky, Tom M. Maher, et al. · American Journal of Medical Genetics Part A · 67
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARS
2015 · Jillian P. Casey, Suzanne Slattery, et al. · Journal of Inherited Metabolic Disease · 64
High rate and changing molecular epidemiology pattern of norovirus infections in sporadic cases and outbreaks of gastroenteritis in Hong Kong
2004 · Chi‐Shan Lau, Derek A. Wong, et al. · Journal of Medical Virology · 62
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
2016 · Bobby G. Ng, Sergey A. Shiryaev, et al. · Human Mutation · 59
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Peanut consumption increases levels of plasma very long chain fatty acids in humans
2012 · Christina Lam, Derek Wong, et al. · Molecular Genetics and Metabolism · 45
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
2014 · Brendan Lee, George A. Diaz, et al. · Genetics in Medicine · 43
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Determination of protein synthesis in vivo using labeling from deuterated water and analysis of MALDI-TOF spectrum
2008 · Gary Guishan Xiao, Meena Garg, et al. · Journal of Applied Physiology · 43
The Proteasome as a Drug Target in the Metazoan Pathogen, Schistosoma mansoni
2019 · Betsaida Bibo-Verdugo, Steven C Wang, et al. · ACS Infectious Diseases · 37
Simple and Rational Approach to the Identification of Mycobacterium tuberculosis , Mycobacterium avium Complex Species, and Other Commonly Isolated Mycobacteria
2001 · Derek A. Wong, Peter C. W. Yip, et al. · Journal of Clinical Microbiology · 35
Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features
2018 · Hideyuki Takeuchi, Derek Wong, et al. · Glycobiology · 33
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Mutations in the sonic hedgehog pathway cause macrocephaly‐associated conditions due to crosstalk to the PI3K/AKT/mTOR pathway
2019 · Steven D. Klein, Dzung C. Nguyen, et al. · American Journal of Medical Genetics Part A · 32
Adult-onset glutaric aciduria type I presenting with white matter abnormalities and subependymal nodules
2015 · T. M. Pierson, Mani Nezhad, et al. · Neurogenetics · 31
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database
2013 · Christina Lam, Jennifer M. Carter, et al. · Molecular Genetics and Metabolism · 29
Coordination of Peroxisomal β-Oxidation and Fatty Acid Elongation in HepG2 Cells
2004 · Derek A. Wong, Sara Bassilian, et al. · Journal of Biological Chemistry · 28
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria
2020 · Matthias Zielonka, Sven F. Garbade, et al. · Human Mutation · 27
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Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
2015 · Derek Wong, Silvia Tortorelli, et al. · Genetics in Medicine · 27
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IEM Digest
2005 · Derek Wong · Molecular Genetics and Metabolism · 23
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients
2019 · George A. Diaz, Andreas Schulze, et al. · Molecular Genetics and Metabolism · 22
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Expanded Newborn Screening for Inborn Errors of Metabolism
2012 · Angela Sun, Christina Lam, et al. · Advances in Pediatrics · 22
Works count: 212
Citation count: 2,594
H-index: 23
I10-index: 38
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