Associated Papers
Congenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.
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Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
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Medrxiv : the Preprint Server for Health Sciences, 2025
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Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
Pathogenic monoallelic variants in GLIS3 increase type 2 diabetes risk and identify a subgroup of patients sensitive to sulfonylureas.
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Diabetologia, 2024
38051360 (PubMed )
Supplement: 125_2023_6035_MOESM1_ESM.pdf
Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database.
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Genes, 2021
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Supplement: genes-12-00863-s001.zip › Supplementary_Files_Rev1_v20210529_.xlsx › Table_S11
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.
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Bmc Medicine, 2017
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Supplement: 12916_2017_977_MOESM1_ESM.pdf
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