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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
Early presentation of cystic kidneys in a family with a homozygous INVS mutation.
Oud MM et al.
American Journal of Medical Genetics. Part A, 2014
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Gee HY et al.
Kidney International, 2014
Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.
Ronquillo CC et al.
Vision Research, 2012
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing.
Halbritter J et al.
Journal of Medical Genetics, 2012
A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway.
Bellavia S et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Tory K et al.
Kidney International, 2009
Retinitis pigmentosa and renal failure in a patient with mutations in INVS.
O'Toole JF et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto EA et al.
Nature Genetics, 2003
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