Associated Papers
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
Molecular pathology and cystogenic propensity of the ADPKD Taiwan founder variant.
Kimura LF et al.
Jci Insight, 2025
Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers.
Telis N et al.
Hgg Advances, 2025
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.
Pepe D et al.
American Journal of Human Genetics, 2025
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Fujimaru T et al.
Kidney International Reports, 2024
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
Genetic Analysis of Severe Polycystic Liver Disease in Japan.
Mizuno H et al.
Kidney360, 2024
Clinical Characteristics and Kidney Outcomes in Chinese Patients with Autosomal Dominant Polycystic Kidney Disease.
Fung WW et al.
Kidney360, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.
Kimura T et al.
Biomolecules, 2023
A Low-Cost Sequencing Platform for Rapid Genotyping in ADPKD and its Impact on Clinical Care.
Lindemann CH et al.
Kidney International Reports, 2023
Genetic analysis of a family presenting with coexisting cerebral cavernous malformations and polycystic kidney disease.
Hsieh PF et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2022
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
Yu CC et al.
Npj Genomic Medicine, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
PKD2 gene variants in Chinese patients with autosomal dominant polycystic kidney disease.
Xu D et al.
Clinical Genetics, 2021
A no-nonsense approach to hereditary kidney disease.
Tokhmafshan F et al.
Pediatric Nephrology (berlin, Germany), 2020
Copy number variant hotspots in Han Taiwanese population induced pluripotent stem cell lines - lessons from establishing the Taiwan human disease iPSC Consortium Bank.
Huang CY et al.
Journal of Biomedical Science, 2020
Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.
Peces R et al.
Molecular Genetics & Genomic Medicine, 2020
Generation of a gene corrected human isogenic IBMS-iPSC-014-C from polycystic-kidney-disease induced pluripotent stem cell line using CRISPR/Cas9.
Liu CL et al.
Stem Cell Research, 2020
Genetic Characteristics of Korean Patients with Autosomal Dominant Polycystic Kidney Disease by Targeted Exome Sequencing.
Kim H et al.
Scientific Reports, 2019
Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Primary cardiac manifestation of autosomal dominant polycystic kidney disease revealed by patient induced pluripotent stem cell-derived cardiomyocytes.
Lee JJ et al.
Ebiomedicine, 2019
Generation of an induced pluripotent stem cell line, IBMS-iPSC-014-05, from a female autosomal dominant polycystic kidney disease patient carrying a common mutation of R803X in PKD2.
Ho MC et al.
Stem Cell Research, 2017
Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease.
Mallawaarachchi AC et al.
European Journal of Human Genetics : Ejhg, 2016
Identification of novel PKD1 and PKD2 mutations in Korean patients with autosomal dominant polycystic kidney disease.
Choi R et al.
Bmc Medical Genetics, 2014
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
Chang MY et al.
Journal of Human Genetics, 2013
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
Chung W et al.
Clinical Genetics, 2006
Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease.
Chang MY et al.
Renal Failure, 2005
Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese.
Zhang S et al.
Nephron. Experimental Nephrology, 2005
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001