Associated Papers
MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.
Fontana P et al.
Genes, 2025
Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes.
Gong S et al.
Diabetes & Metabolism Journal, 2025
Comprehensive characterization of early-onset lung cancer, in Chinese young adults.
Tian Y et al.
Nature Communications, 2025
40000630 (PubMed )
Supplement: 41467_2025_57309_MOESM8_ESM.xlsx › DNA_results
Maturity-Onset Diabetes of the Young (MODY) With HNF1B p.Glu105Lys Mutation Achieving Significant Insulin Reduction on Tirzepatide: A Case Report.
Sue M et al.
Clinical Case Reports, 2025
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Fujimaru T et al.
Kidney International Reports, 2024
39291187 (PubMed )
Supplement: mmc1.pdf
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
39156164 (PubMed )
Supplement: mmc1.pdf
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1
Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.
Guan B et al.
Frontiers in Oncology, 2022
35372080 (PubMed )
Supplement: Table_6.xlsx › table_S6
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE et al.
Nature Neuroscience, 2021
33432195 (PubMed )
Supplement: NIHMS1648954-supplement-1648954_SuppTables.xlsx › Table_S7.2
Clinical and genetic analysis in a Chinese cohort of children and adolescents with diabetes/persistent hyperglycemia.
Ding Y et al.
Journal of Diabetes Investigation, 2021
Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.
Lim SH et al.
Journal of Clinical Medicine, 2020
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology.
Wang T et al.
Molecular Genetics & Genomic Medicine, 2019
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