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Medrxiv : the Preprint Server for Health Sciences|March 30, 2023
Implication of FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.Kidney International|December 28, 2023
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)Korbinian M Riedhammer, Thanh-Minh T Nguyen, Can Koşukcu, et al.Nature Communications|April 29, 2023
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndromeAlexandra Barry, Michelle T McNulty, Xiaoyuan Jia, et al.American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.Medrxiv : the Preprint Server for Health Sciences|August 14, 2023
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney diseaseYask Gupta, David J Friedman, Michelle McNulty, et al.Journal of the American Society of Nephrology : JASN|February 18, 2021
Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral RefluxMiguel Verbitsky, Priya Krithivasan, Ekaterina Batourina, et al.Journal of the American Society of Nephrology : JASN|March 30, 2023
Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic DiagnosisDina F Ahram, Tze Y Lim, Juntao Ke, et al.Nature Communications|November 30, 2023
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney diseaseYask Gupta, David J Friedman, Michelle T McNulty, et al.The Journal of Clinical Investigation|March 28, 2023
CERT1 mutations perturb human development by disrupting sphingolipid homeostasisCharlotte Gehin, Museer A Lone, Winston Lee, et al.Nature Genetics|December 23, 2018
The copy number variation landscape of congenital anomalies of the kidney and urinary tractMiguel Verbitsky, Rik Westland, Alejandra Perez, et al.Pageof 3