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Author

Maheak Vora

2 papers indexed here

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Aug 2026

Genotype-First Characterization of Familial Hypocalciuric Hypercalcemia Type 1: Prevalence, Serum Calcium and Clinical Associations.

Familial hypocalciuric hypercalcemia type 1 (FHH1), caused by inactivating CASR variants, is characterized by lifelong hypercalcemia and hypocalciuria and should be distinguished from primary hyperparathyroidism as their management differs substantially. Prior reports suggest additional clinical associations (e.g., pan...

N. Charoenngam, A. Huerta-Chagoya, Sarah Hsu et al. · 0 citations
Open access Sep 2026

Novel type 1 diabetes polygenic scores improve identification of type 1 diabetes in diverse populations

Most polygenic scores (PS) for type 1 diabetes were developed using European (EUR) ancestry datasets, limiting performance in non-European (non-EUR) populations. We evaluated novel type 1 diabetes PS across diverse populations to assess whether newer models improve prediction in underrepresented populations. Seven type...

Stella Nam, R. Kreienkamp, Jiang Li et al. · 0 citations

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