Associated Papers
Rare BLK, CEL, KLF11, PDX1, and PAX4 Gene Variants in Russian Patients with Monogenic Diabetes: Clinical and Molecular Characterization.
Khusainova RI et al.
Biomedicines, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
38800615 (PubMed )
Supplement: mmc2.xlsx › P5-dominant
Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity.
Ribeiro AF et al.
Journal of Diabetes Research, 2024
Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.
Yu H et al.
Journal of Molecular Cell Biology, 2023
Prevalence and Clinical Characteristics of PDX1 Variant Induced Diabetes in Chinese Early-Onset Type 2 Diabetes.
Lian H et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.
Deng Z et al.
Nature Communications, 2023
37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original
The first compound heterozygous mutations in SLC12A3 and PDX1 genes: a unique presentation of Gitelman syndrome with distinct insulin resistance and familial diabetes insights.
Yin Y et al.
Frontiers in Endocrinology, 2023
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
36208030 (PubMed )
Supplement: EDM2-5-e372-s001.xlsx › eTable_1
Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients.
Lee DH et al.
Bmj Open Diabetes Research & Care, 2021
Identification of Key Genes Mutations Associated With the Radiosensitivity by Whole Exome Sequencing in Pancreatic Cancer.
Hu B et al.
Frontiers in Oncology, 2021
34434896 (PubMed )
Supplement: DataSheet_5.xlsx › All.final.xls.sed
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4
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