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Journal of the Endocrine Society|January 6, 2022
First Japanese Family With PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and ImplicationsSatoshi Yoshiji, Yukio Horikawa, Sodai Kubota, et al.
International Journal of Epidemiology|February 11, 2023
Increasing serum iron levels and their role in the risk of infectious diseases: a Mendelian randomization approachGuillaume Butler-Laporte, Yossi Farjoun, Yiheng Chen, et al.
Research Square|May 5, 2025
Selecting variant masks to improve power and replicability of gene-level burden testsTrang Nguyen, Ryan Koesterer, Sean J Jurgens, et al.
Physiological Genomics|April 21, 2025
A genetic variant associated with aquaporin 3 expression is correlated to in-hospital death in COVID-19 patients with extracellular hyperosmolalityMichael Marks-Hultström, Amanda M Marks, Guillaume Butler-Laporte, et al.
Circulation. Genomic and Precision Medicine|August 9, 2024
Proteome- and Transcriptome-Wide Genetic Analysis Identifies Biological Pathways and Candidate Drug Targets for PreeclampsiaMaddalena Ardissino, Buu Truong, Eric A W Slob, et al.
Physiological Genomics|May 13, 2024
Metabolomic pattern associated with physical sequelae in patients presenting with respiratory symptoms validates the aestivation concept in dehydrated patientsAnnelie Barrueta Tenhunen, Guillaume Butler-Laporte, Satoshi Yoshiji, et al.
Nature Genetics|May 8, 2026
Empirically determined baseline masking strategies and other considerations for gene-level burden testsTrang Nguyen, Ryan Koesterer, Poeya Haydarlou, et al.
The Journal of Clinical Endocrinology and Metabolism|August 25, 2025
Genetic and Clinical Characteristics of Monogenic Diabetes in Japan: A Nationwide Study by the Japan Diabetes SocietySatoshi Yoshiji, Masashi Hasebe, Daisuke Tanaka, et al.
Critical Care (London, England)|October 22, 2022
Dehydration is associated with production of organic osmolytes and predicts physical long-term symptoms after COVID-19: a multicenter cohort studyMichael Hultström, Miklos Lipcsey, Dave R Morrison, et al.
Medrxiv : the Preprint Server for Health Sciences|May 19, 2025
The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbiditiesAna Luiza Arruda, Ozvan Bocher, Henry J Taylor, et al.
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