Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS)*

Jodi M. Smith, Donald M. Stablein, Ricardo Muñoz et al. · Pediatric Transplantation · 2007 · 479 citations

Medicine, Nephrology, Pediatrics +8

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Moumita Chaki, Rannar Airik, Amiya K. Ghosh et al. · Cell · 2012 · 391 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

Weibin Zhou, Edgar A. Otto, Andrew Cluckey et al. · Nature Genetics · 2012 · 244 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Simone Sanna‐Cherchi, Krzysztof Kiryluk, Katelyn E. Burgess et al. · The American Journal of Human Genetics · 2012 · 233 citations · Full text

Medicine, Genetics, Molecular Genetics +16

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

Friedhelm Hildebrandt, Saskia F. Heeringa, Franz Rüschendorf et al. · PLoS Genetics · 2009 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9