[HTML][HTML] Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD
Y Hort, P Sullivan, L Wedd, L Fowles… - NPJ Genomic …, 2023 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic
cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10 …
cause of kidney failure and is primarily associated with PKD1 or PKD2. Approximately 10 …
[HTML][HTML] Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease
AC Mallawaarachchi, Y Hort, MJ Cowley… - European Journal of …, 2016 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic
kidney disorder and is due to disease-causing variants in PKD1 or PKD2. Strong genotype …
kidney disorder and is due to disease-causing variants in PKD1 or PKD2. Strong genotype …
Detecting PKD1 variants in polycystic kidney disease patients by single‐molecule long‐read sequencing
DM Borràs, RHAM Vossen, M Liem… - Human …, 2017 - Wiley Online Library
A genetic diagnosis of autosomal‐dominant polycystic kidney disease (ADPKD) is
challenging due to allelic heterogeneity, high GC content, and homology of the PKD1 gene …
challenging due to allelic heterogeneity, high GC content, and homology of the PKD1 gene …
Molecular diagnosis of autosomal dominant polycystic kidney disease
X Song, A Haghighi, IA Iliuta, Y Pei - Expert Review of Molecular …, 2017 - Taylor & Francis
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the most common
inherited kidney disease that accounts for 5–10% of end-stage renal disease in developed …
inherited kidney disease that accounts for 5–10% of end-stage renal disease in developed …
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
AC Mallawaarachchi, B Lundie, Y Hort… - European Journal of …, 2021 - nature.com
Abstract Autosomal Dominant Polycystic Kidney Disease (ADPKD) is common, with a
prevalence of 1/1000 and predominantly caused by disease-causing variants in PKD1 or …
prevalence of 1/1000 and predominantly caused by disease-causing variants in PKD1 or …
[HTML][HTML] Gene panel analysis in a large cohort of patients with autosomal dominant polycystic kidney disease allows the identification of 80 potentially causative novel …
V Mantovani, S Bin, C Graziano, I Capelli… - Frontiers in …, 2020 - frontiersin.org
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most
common inherited disorders in humans and the majority of patients carry a variant in either …
common inherited disorders in humans and the majority of patients carry a variant in either …
[HTML][HTML] PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan
CC Yu, AF Lee, S Kohl, MY Lin, SM Cheng… - NPJ Genomic …, 2022 - nature.com
Autosomal Dominant polycystic kidney disease (ADPKD) is the most common inherited adult
kidney disease. Although ADPKD is primarily caused by PKD1 and PKD2, the identification …
kidney disease. Although ADPKD is primarily caused by PKD1 and PKD2, the identification …
[HTML][HTML] PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal
disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and …
disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and …
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next‐generation sequencing
D Trujillano, G Bullich, S Ossowski… - Molecular genetics & …, 2014 - Wiley Online Library
Molecular diagnostics of autosomal dominant polycystic kidney disease (ADPKD) relies on
mutation screening of PKD 1 and PKD 2, which is complicated by extensive allelic …
mutation screening of PKD 1 and PKD 2, which is complicated by extensive allelic …
[HTML][HTML] Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing
AY Tan, A Michaeel, G Liu, O Elemento… - The Journal of Molecular …, 2014 - Elsevier
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1
and PKD2. However, genetic analysis is complicated by six PKD1 pseudogenes, large gene …
and PKD2. However, genetic analysis is complicated by six PKD1 pseudogenes, large gene …