VISTA is an immune checkpoint molecule for human T cells JL Lines, E Pantazi, J Mak, LF Sempere, L Wang, S O'Connell, S Ceeraz, ... Cancer research 74 (7), 1924-1932, 2014 | 497 | 2014 |
SETD3 is an actin histidine methyltransferase that prevents primary dystocia AW Wilkinson, J Diep, S Dai, S Liu, YS Ooi, D Song, TM Li, JR Horton, ... Nature 565 (7739), 372-376, 2019 | 134 | 2019 |
Nasopharyngeal metabolomics and machine learning approach for the diagnosis of influenza CA Hogan, P Rajpurkar, H Sowrirajan, NA Phillips, AT Le, M Wu, ... EBioMedicine 71, 103546, 2021 | 23 | 2021 |
Development and validation of a liquid chromatography–tandem mass spectrometry (LC–MS/MS) assay to quantify serum voriconazole J Mak, KK Sujishi, D French Journal of Chromatography B 986, 94-99, 2015 | 21 | 2015 |
GlcNAc-Asn is a biomarker for NGLY1 deficiency WF Mueller, L Zhu, B Tan, S Dwight, B Beahm, M Wilsey, T Wechsler, ... J. Biochem. 171 (2), 177-186, 2022 | 15 | 2022 |
Host-microbe co-metabolism via MCAD generates circulating metabolites including hippuric acid KM Pruss, H Chen, Y Liu, W Van Treuren, SK Higginbottom, JB Jarman, ... Nature Communications 14 (1), 512, 2023 | 14 | 2023 |
Metabolic profiling by reversed-phase/ion-exchange mass spectrometry A Le, J Mak, TM Cowan Journal of Chromatography B 1143, 122072, 2020 | 14 | 2020 |
Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry J Mak, TM Cowan Molecular genetics and metabolism 134 (1-2), 43-52, 2021 | 13 | 2021 |
Quantitative analysis of underivatized amino acids by Liquid Chromatography-Tandem Mass Spectrometry J Mak, TM Cowan, A Le Amino Acid Analysis: Methods and Protocols, 85-109, 2019 | 11 | 2019 |
Validation of a targeted metabolomics panel for improved second‐tier newborn screening J Mak, G Peng, A Le, N Gandotra, GM Enns, C Scharfe, TM Cowan Journal of Inherited Metabolic Disease, 2023 | 8 | 2023 |
Rapid underivatized method for quantitative methylmalonic acid by liquid chromatography–tandem mass spectrometry J Mak, BT Wong, T Kwan, A Le, TM Cowan The Journal of Applied Laboratory Medicine 3 (3), 408-417, 2018 | 4 | 2018 |
AAV9-Mediated gene therapy for NGLY1 deficiency and assessment of GNA biomarker changes in a rat disease model WF Mueller, L Zhu, SS Dwight, B Beahm, KJ Lee, M Wilsey, J Mak, ... Molecular Therapy 28 (4), 124-125, 2020 | 2 | 2020 |
1791. Novel Metabolomics Approach for the Diagnosis of Respiratory Viruses Directly from Nasopharyngeal Specimens C Hogan, AT Le, J Mak, M Kumar. Sahoo, T Cowan, BA Pinksy Open Forum Infectious Diseases 6 (Supplement_2), S660-S660, 2019 | 1 | 2019 |
P552: Improving DNA sequencing from dried blood spots for multi-tiered newborn screening N Gandotra, G Peng, I Tikhonova, C Storer, J Mak, G Wang, T Cowan, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
eP037: Biochem for the Win! The added value of biochemical genetic testing for diagnosis and variant interpretation in the genomic era C Tise, K Grand, JM Corado, R Gates, J Graham, G Enns, ... Genetics in Medicine 24 (3), S24, 2022 | | 2022 |
Bioanalysis Rising Star Award 2019: announcing our finalists! J Mak, K Sundaram, L Andrews, S Boridy, X Wang, Z Li Bioanalysis 11 (14), 1315-1319, 2019 | | 2019 |