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Plos Genetics|January 24, 2009
A systematic approach to mapping recessive disease genes in individuals from outbred populationsFriedhelm Hildebrandt, Saskia F Heeringa, Franz Rüschendorf, et al.The Journal of Clinical Investigation|July 23, 2013
ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signalingHeon Yung Gee, Pawaree Saisawat, Shazia Ashraf, et al.JAMA Network Open|August 25, 2022
Comparing Kidney Health Outcomes in Children, Adolescents, and Adults With Focal Segmental GlomerulosclerosisDebbie S Gipson, Jonathan P Troost, Cathie Spino, et al.Nature Communications|August 14, 2023
An integrated organoid omics map extends modeling potential of kidney diseaseMoritz Lassé, Jamal El Saghir, Celine C Berthier, et al.Kidney International|November 22, 2013
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathiesHeon Yung Gee, Edgar A Otto, Toby W Hurd, et al.Nature Communications|February 25, 2016
FAT1 mutations cause a glomerulotubular nephropathyHeon Yung Gee, Carolin E Sadowski, Pardeep K Aggarwal, et al.The Journal of Clinical Investigation|November 26, 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al.American Journal of Human Genetics|November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.The Journal of Clinical Investigation|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.Kidney International|November 28, 2022
Precision nephrology identified tumor necrosis factor activation variability in minimal change disease and focal segmental glomerulosclerosisLaura H Mariani, Sean Eddy, Fadhl M AlAkwaa, et al.Pageof 5