Steven J. Scheinman

A common molecular basis for three inherited kidney stone diseases

Sarah E. Lloyd, Simon H. S. Pearce, Simon E. Fisher et al. · Nature · 1996 · 726 citations · Full text

Medicine, Genetics, Molecular Genetics +14

A Cluster of Metabolic Defects Caused by Mutation in a Mitochondrial tRNA

Frederick H. Wilson, Ali Hariri, Anita Farhi et al. · Science · 2004 · 357 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Dent Disease with Mutations in OCRL1

R R Hoopes, Antony E. Shrimpton, Stephen J. Knohl et al. · The American Journal of Human Genetics · 2005 · 333 citations · Full text

Dentistry, Oral Biology, Oral Diagnosis +1

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B. Jaffe et al. · Nature Genetics · 2013 · 316 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Glomerular protein sieving and implications for renal failure in Fanconi syndrome

Anthony G.W. Norden, Marta Lapsley, Philip Lee et al. · Kidney International · 2001 · 246 citations · Full text

Medicine, Nephrology, Pathology +13