Tina M. Cowan

ScholarGPS® ID: 28540904344990

Affiliation

Stanford University, Stanford, United States

Affiliation History

Field

Medicine

Discipline

Pathology

Top Specialties

Metrics Summary

Publication Count

Predicted Citations

4,038

Predicted h-index

Ranking

Publications and Citation History

Publications based on Top Specialties

Types of Publication

Publications
Books
Patents
NIH/NSF

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MT‐ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype (journal article) Tise, Christina G. \| Verscaj, Courtney P. \| Mendelsohn, Bryce A. \| Woods, Jeremy \| Lee, Chung U. \| Enns, Gregory M. \| Stander, Zinandré \| Hall, Patricia L. \| Cowan, Tina M. \| Cusmano‐Ozog, Kristina P. American Journal of Medical Genetics Part A, volume 191, issue 6, pages 1492-1501 (2023). 10.1002/ajmg.a.63159 Cited by (5) \| Cite \| Source
A Phase 1 Study of Oral Vitamin D3 in Boys and Young Men With X-Linked Adrenoleukodystrophy (journal article) Van Haren, Keith P. \| Cunanan, Kristen \| Awani, Avni \| Gu, Meng \| Peña, Dalia \| Chromik, Lindsay C. \| Považan, Michal \| Rossi, Nicole C. \| Goodman, Jordan \| Sundaram, Vandana \| ... \| Fatemi, Ali Neurology Genetics, volume 9, issue 2 (2023). 10.1212/NXG.0000000000200061 Cite \| Source
Targeted plasma metabolomics combined with machine learning for the diagnosis of severe acute respiratory syndrome virus type 2 (journal article) Le, Anthony T. \| Wu, Manhong \| Khan, Afraz \| Phillips, Nicholas \| Rajpurkar, Pranav \| Garland, Megan \| Magid, Kayla \| Sibai, Mamdouh \| Huang, ChunHong \| Sahoo, Malaya K. \| ... \| Hogan, Catherine A. Frontiers in Microbiology, volume 13 (2023). 10.3389/fmicb.2022.1059289 Cited by (2) \| Cite \| Source
Validation of a targeted metabolomics panel for improved second‐tier newborn screening (journal article) Mak, Justin \| Peng, Gang \| Le, Anthony \| Gandotra, Neeru \| Enns, Gregory M. \| Scharfe, Curt \| Cowan, Tina M. Journal of Inherited Metabolic Disease, volume 46, issue 2, pages 194-205 (2023). 10.1002/jimd.12591 Cited by (9) \| Cite \| Source
Host-microbe co-metabolism via MCAD generates circulating metabolites including hippuric acid (journal article) Pruss, Kali M. \| Chen, Haoqing \| Liu, Yuanyuan \| Van Treuren, William \| Higginbottom, Steven K. \| Jarman, John B. \| Fischer, Curt R. \| Mak, Justin \| Wong, Beverly \| Cowan, Tina M. \| ... \| Dodd, Dylan Nature Communications, volume 14, issue 1 (2023). 10.1038/s41467-023-36138-3 Cited by (18) \| Cite \| Source
P552: Improving DNA sequencing from dried blood spots for multi-tiered newborn screening (journal article) Gandotra, Neeru \| Peng, Gang \| Tikhonova, Irina \| Storer, Caroline \| Mak, Justin \| Wang, Guilin \| Cowan, Tina \| Scharfe, Curt Genetics in Medicine Open, volume 1, issue 1, pages 100599- (2023). 10.1016/j.gimo.2023.100599 Cite \| Source
Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances (journal article) Peng, Gang \| Pakstis, Andrew J. \| Gandotra, Neeru \| Cowan, Tina M. \| Zhao, Hongyu \| Kidd, Kenneth K. \| Scharfe, Curt Molecular Genetics and Metabolism, volume 137, issue 3, pages 292-300 (2022). 10.1016/j.ymgme.2022.10.002 Cited by (5) \| Cite \| Source
eP037: Biochem for the Win! The added value of biochemical genetic testing for diagnosis and variant interpretation in the genomic era (journal article) Tise, Christina \| Grand, Katheryn \| Corado, Jose Morales \| Gates, Ryan \| Graham, John \| Enns, Gregory \| Gomez-Ospina, Natalia \| Mak, Justin \| Cowan, Tina \| Cusmano-Ozog, Kristina Genetics in Medicine, volume 24, issue 3, pages S24- (2022). 10.1016/j.gim.2022.01.075 Cite \| Source
GlcNAc-Asn is a biomarker for NGLY1 deficiency (journal article) Mueller, William F \| Zhu, Lei \| Tan, Brandon \| Dwight, Selina \| Beahm, Brendan \| Wilsey, Matt \| Wechsler, Thomas \| Mak, Justin \| Cowan, Tina \| Pritchett, Jake \| ... \| Crawford, Brett E The Journal of Biochemistry, volume 171, issue 2, pages 177-186 (2022). 10.1093/jb/mvab111 Cited by (13) \| Cite \| Source
Variable clinical severity in TANGO2 deficiency: Case series and literature review (journal article) Schymick, Jennifer \| Leahy, Peter \| Cowan, Tina \| Ruzhnikov, Maura R. Z. \| Gates, Ryan \| Fernandez, Liliana \| Pramanik, Gopal \| Yarlagadda, Vamsi \| Wheeler, Matthew \| Bernstein, Jonathan A. \| ... \| Lee, Chung American Journal of Medical Genetics Part A, volume 188, issue 2, pages 473-487 (2022). 10.1002/ajmg.a.62543 Cited by (18) \| Cite \| Source
Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry (journal article) Mak, Justin \| Cowan, Tina M. Molecular Genetics and Metabolism, volume 134, issue 1-2, pages 43-52 (2021). 10.1016/j.ymgme.2021.08.006 Cited by (12) \| Cite \| Source
Timing of newborn blood collection alters screening performance for metabolic disorders (journal article) Peng, Gang \| Tang, Yishuo \| Gandotra, Neeru \| Cowan, Tina \| Zhao, Hongyu \| Scharfe, Curt Molecular Genetics and Metabolism, volume 132 (2021). 10.1016/S1096-7192(21)00124-4 Cite \| Source
Timing of Newborn Blood Collection Alters Metabolic Disease Screening Performance (journal article) Peng, Gang \| Tang, Yishuo \| Cowan, Tina M. \| Zhao, Hongyu \| Scharfe, Curt Frontiers in Pediatrics, volume 8 (2021). 10.3389/fped.2020.623184 Cited by (14) \| Cite \| Source
A conserved role for AMP-activated protein kinase in NGLY1 deficiency (journal article) Han, Seung Yeop \| Pandey, Ashutosh \| Moore, Tereza \| Galeone, Antonio \| Duraine, Lita \| Cowan, Tina M. \| Jafar-Nejad, Hamed PLOS Genetics, volume 16, issue 12, pages e1009258- (2020). 10.1371/journal.pgen.1009258 Cited by (24) \| Cite \| Source
AMP-independent activator of AMPK for treatment of mitochondrial disorders (journal article) Moore, Tereza \| Yanes, Rolando E. \| Calton, Melissa A. \| Vollrath, Douglas \| Enns, Gregory M. \| Cowan, Tina M. PLOS ONE, volume 15, issue 10, pages e0240517- (2020). 10.1371/journal.pone.0240517 Cited by (8) \| Cite \| Source
Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes (journal article) Peng, Gang \| Tang, Yishuo \| Gandotra, Neeru \| Enns, Gregory M. \| Cowan, Tina M. \| Zhao, Hongyu \| Scharfe, Curt Journal of Inherited Metabolic Disease, volume 43, issue 5, pages 934-943 (2020). 10.1002/jimd.12236 Cited by (23) \| Cite \| Source
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog (journal article) Mansour, Tamer A. \| Woolard, Kevin D. \| Vernau, Karen L. \| Ancona, Devin M. \| Thomasy, Sara M. \| Sebbag, Lionel \| Moore, Bret A. \| Knipe, Marguerite F. \| Seada, Haitham A. \| Cowan, Tina M. \| ... \| Bannasch, Danika L. Scientific Reports, volume 10, issue 1 (2020). 10.1038/s41598-020-63451-4 Cited by (7) \| Cite \| Source
Metabolic profiling by reversed-phase/ion-exchange mass spectrometry (journal article) Le, Anthony \| Mak, Justin \| Cowan, Tina M. Journal of Chromatography B, volume 1143 (2020). 10.1016/j.jchromb.2020.122072 Cited by (10) \| Cite \| Source
Reducing False-Positive Results in Newborn Screening Using Machine Learning (journal article) Peng, Gang \| Tang, Yishuo \| Cowan, Tina M. \| Enns, Gregory M. \| Zhao, Hongyu \| Scharfe, Curt International Journal of Neonatal Screening, volume 6, issue 1, pages 16- (2020). 10.3390/ijns6010016 Cited by (37) \| Cite \| Source
1791. Novel Metabolomics Approach for the Diagnosis of Respiratory Viruses Directly from Nasopharyngeal Specimens (journal article) Hogan, Catherine \| Le, Anthony T \| Mak, Justin \| Kumar. Sahoo, Malaya \| Cowan, Tina \| Pinksy, Benjamin A Open Forum Infectious Diseases, volume 6, issue Supplement_2, pages S660-S660 (2019). 10.1093/ofid/ofz360.1654 Cited by (1) \| Cite \| Source