Eric L. Wise

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

Hypomorphic mutations in meckelin (<i>MKS3/TMEM67</i>) cause nephronophthisis with liver fibrosis (NPHP11)

Edgar A. Otto, Kálmán Tory, Massimo Attanasio et al. · Journal of Medical Genetics · 2009 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

John F. O’Toole, Yangjian Liu, Erica E. Davis et al. · Journal of Clinical Investigation · 2010 · 118 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

Edgar A. Otto, Juliana Helou, Susan J. Allen et al. · Human Mutation · 2007 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

4-Hydroxy-5,6-dihydropyrones as Inhibitors of HIV Protease:  The Effect of Heterocyclic Substituents at C-6 on Antiviral Potency and Pharmacokinetic Parameters

Susan E. Hagen, John M. Domagala, Christopher Gajda et al. · Journal of Medicinal Chemistry · 2001 · 59 citations · Full text

Pharmacy, Medicinal Chemistry, Pharmacology +17