Sabine Janssen

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 · 390 citations · Full text

Genome Instability, Linking Renal Ciliopathies, Cep164 Mutations +6

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 · 238 citations · Full text

Glomerular Disease, Glomerulonephritis, Genome Instability +14

Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Edgar A. Otto, Gokul Ramaswami, Sabine Janssen et al. · Journal of Medical Genetics · 2010 · 131 citations · Full text

Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies

Moumita Chaki, Julia Hoefele, Susan J. Allen et al. · Kidney International · 2011 · 125 citations · Full text

Mendelian Disorder, Genetic Disorder, Genotype–phenotype Correlation +3

Mutation analysis in Bardet–Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals

Sabine Janssen, Gokul Ramaswami, Erica E. Davis et al. · Human Genetics · 2010 · 93 citations · Full text

Chromosome Dynamics, Cytogenetics, Medicine +9