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Kidney International|August 5, 2020
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypesMartina Živná, Kendrah Kidd, Mohamad Zaidan, et al.
The Journal of Clinical Investigation|February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F O'Toole, Yangjian Liu, Erica E Davis, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|December 28, 2020
Treatment and long-term outcome in primary nephrogenic diabetes insipidusSergio C Lopez-Garcia, Mallory L Downie, Ji Soo Kim, et al.
Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.
Diabetes|February 27, 2010
Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humansErik Ingelsson, Claudia Langenberg, Marie-France Hivert, et al.
Cell|August 7, 2012
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMoumita Chaki, Rannar Airik, Amiya K Ghosh, et al.
Nature|January 8, 2025
One-quarter of freshwater fauna threatened with extinctionCatherine A Sayer, Eresha Fernando, Randall R Jimenez, et al.
Diabetes|August 30, 2011
Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetesRona J Strawbridge, Josée Dupuis, Inga Prokopenko, et al.
Diabetes|March 15, 2012
No interactions between previously associated 2-hour glucose gene variants and physical activity or BMI on 2-hour glucose levelsRobert A Scott, Audrey Y Chu, Niels Grarup, et al.
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