Associated Papers
Evaluating gene variations in autosomal dominant polycystic kidney disease patients using whole exome sequencing and phenotype to genotype analysis.
Aypek H et al.
Renal Failure, 2025
41032671 (PubMed )
Supplement: IRNF_A_2547306_SM0962.docx
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Structural Capacitance in Protein Evolution and Human Diseases.
Li C et al.
Journal of Molecular Biology, 2018
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19
Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.
Gast C et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2016
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
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-File006.xls › TypeIII
Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Hoefele J et al.
Human Mutation, 2005
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Otto E et al.
American Journal of Human Genetics, 2002
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