Personal profile
Clinical interests
Rare genetic conditions.
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Dive into the research topics where Hoanh Nguyen is active. These topic labels come from the works of this person and are generated automatically. Together they form a unique fingerprint. Contact the Profiles team with questions.
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Collaborations and top research areas from the last five years
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De novo missense variants in CHTF18: The potential to expand the clinical spectrum of cohesinopathies
Aref-Eshghi, E., Wentzensen, I. M., Ben-Omran, T., Bux, R. I., Gold, N. B., McRoy, E., Nguyen, H., O'Grady, L., Tu, S. C., Chen, Y., Folk, L. & McGivern, B., Oct 9 2025, In: Human Genetics and Genomics Advances. 6, 4, 100485.Research output: Contribution to journal › Article › peer-review
Open Access -
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range
The CHOP Birth Defects Biorepository & Penn Medicine BioBank, Jun 5 2025, In: American journal of human genetics. 112, 6, p. 1415-1429 15 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Link opens in a new tab Scopus citations -
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
Starosta, R. T., Lee, A. J., Toolan, E. R., He, M., Wongkittichote, P., Daniel, E. J. P., Radenkovic, S., Budhraja, R., Pandey, A., Sharma, J., Morava, E., Nguyen, H. & Dickson, P. I., Jun 2024, In: Molecular genetics and metabolism. 142, 2, 108488.Research output: Contribution to journal › Review article › peer-review
8 Link opens in a new tab Scopus citations -
S-adenosylmethionine and nicotinamide riboside therapy in Arts syndrome: A case report and literature review
Lee, A., Knox, R., Reynolds, M., McRoy, E. & Nguyen, H., Nov 2023, In: JIMD Reports. 64, 6, p. 417-423 7 p.Research output: Contribution to journal › Article › peer-review
Open Access6 Link opens in a new tab Scopus citations -
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia
Lee, A., Eldem, I., Altintas, B., Nguyen, H., Willis, D., Langley, R. & Shinawi, M., Jul 2023, In: Molecular genetics and metabolism. 139, 3, 107627.Research output: Contribution to journal › Article › peer-review
10 Link opens in a new tab Scopus citations