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

Moumita Chaki, Rannar Airik, Amiya K. Ghosh, +69

Cell

Genome InstabilityLinking Renal CiliopathiesCep164 MutationsGeneticsGenomic Mechanism +4

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

Weibin Zhou, Edgar A. Otto, Andrew Cluckey, +41

Nature Genetics

Glomerular DiseaseGlomerulonephritisGenome InstabilityUrologyGenetic Disorder +12

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, +16

Journal of Medical Genetics

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

Moumita Chaki, Julia Hoefele, Susan J. Allen, +6

Kidney International

Mendelian DisorderGenetic DisorderGenotype–phenotype CorrelationPathologyMedicine +1

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

Sabine Janssen, Gokul Ramaswami, Erica E. Davis, +9

Human Genetics

Chromosome DynamicsCytogeneticsMedicineGeneticsGenetic Disorder +7

Feasibility of external rhythmic cueing with the Google Glass for improving gait in people with Parkinson’s disease

Yan Zhao, Jorik Nonnekes, Erik J. M. Storcken, +7

Journal of Neurology

Gait AnalysisExternal Rhythmic CueingMovement AnalysisKinesiologyGoogle Glass +13

Usability of Three-dimensional Augmented Visual Cues Delivered by Smart Glasses on (Freezing of) Gait in Parkinson’s Disease

Sabine Janssen, Benjamin Bolte, Jorik Nonnekes, +5

Frontiers in Neurology

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

Heon Yung Gee, Edgar A. Otto, Toby W. Hurd, +38

Kidney International

UrologyRenal FunctionMedicineKidney FailureRenal Pathology +7

The Effects of Augmented Reality Visual Cues on Turning in Place in Parkinson's Disease Patients With Freezing of Gait

Sabine Janssen, Jaap de Ruyter van Steveninck, Hizirwan S. Salim, +4

Frontiers in Neurology

Progressive histopathological changes in pancreatic islets of Zucker Diabetic Fatty rats

Sabine Janssen, A. R. M. M. Hermus, W. Lange, +5

Experimental and Clinical Endocrinology & Diabetes