Causal and putative pathogenic mutations identified in 39% of children with primary steroid-resistant nephrotic syndrome in South Africa

New Equations to Estimate GFR in Children with CKD

George J. Schwartz, Michael F. Schneider, Robert H. Mak et al. · Journal of the American Society of Nephrology · 2009 · 3.7K citations · Full text

Medicine, Nephrology, Pediatrics +17

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Yaping Yang, Donna M. Muzny, Jeffrey G. Reid et al. · New England Journal of Medicine · 2013 · 2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Nicolas Boute, Olivier Gribouval, Séverine Roselli et al. · Nature Genetics · 2000 · 1.4K citations

Medicine, Genetics, Nephrology +13

Guidelines for investigating causality of sequence variants in human disease

Daniel G. MacArthur, Teri A. Manolio, David Dimmock et al. · Nature · 2014 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis

Joshua M. Kaplan, Sung Hyun Kim, Kathryn N. North et al. · Nature Genetics · 2000 · 1.2K citations

Medicine, Genetics, Molecular Genetics +12