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
41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC et al.
European Journal of Human Genetics : Ejhg, 2024
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi AC et al.
European Journal of Human Genetics : Ejhg, 2021
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease.
Chang MY et al.
Journal of Human Genetics, 2013
Characteristics of intracranial aneurysms in the else kröner-fresenius registry of autosomal dominant polycystic kidney disease.
Neumann HP et al.
Cerebrovascular Diseases Extra, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
How segmental duplications shape our genome: recent evolution of ABCC6 and PKD1 Mendelian disease genes.
Symmons O et al.
Molecular Biology and Evolution, 2008
An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.
Watnick TJ et al.
Human Molecular Genetics, 1997
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