Valeska Frank
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Renal and related cancers, Genetic Syndromes and Imprinting, Hedgehog Signaling Pathway Studies, Biomedical Research and Pathophysiology
Most-Cited Works
- → Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia(2008)330 cited
- → Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease(2011)231 cited
- → ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3(2013)199 cited
- → Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease(2017)198 cited
- → Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome(2007)157 cited
- → Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease(2013)138 cited
- → Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression(2013)101 cited
- → An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease(2015)73 cited
- → Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing(2012)52 cited
- → RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4(2007)52 cited