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Nephron|November 27, 2025
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like PhenotypeLaura R Claus, Rozemarijn Snoek, Siebren Faber, et al.
Kidney International|September 13, 2017
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosisAnkana Daga, Amar J Majmundar, Daniela A Braun, et al.
Nature Genetics|May 10, 2006
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A Sayer, Edgar A Otto, John F O'Toole, et al.
Nature Communications|December 22, 2019
Mitochondrial oxidative capacity and NAD+ biosynthesis are reduced in human sarcopenia across ethnicitiesEugenia Migliavacca, Stacey K H Tay, Harnish P Patel, et al.
Human Mutation|January 4, 2012
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific databaseMatthew Bower, Rémi Salomon, Judith Allanson, et al.
Science (New York, N.Y.)|May 25, 2019
Germline selection shapes human mitochondrial DNA diversityWei Wei, Salih Tuna, Michael J Keogh, et al.
Kidney International|January 21, 2026
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathyMichelle Clince, Elhussein A E Elhassan, Kendrah Kidd, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2025
Genotype-Phenotype Correlations and Clinical Outcomes of Genetic TRPC6 PodocytopathiesSusan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman, et al.
Kidney International Reports|November 24, 2025
Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman SyndromeMichiel L A J Wieërs, Lise Allard, Viola D'Ambrosio, et al.
Kidney International|August 20, 2023
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney diseaseLaura R Claus, Chuan Chen, Jennifer Stallworth, et al.
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