Valeska Frank

Loss of Nephrocystin-3 Function Can Cause Embryonic Lethality, Meckel-Gruber-like Syndrome, Situs Inversus, and Renal-Hepatic-Pancreatic Dysplasia

Carsten Bergmann, Manfred Fliegauf, Nadina Ortiz Brüchle et al. · The American Journal of Human Genetics · 2008 · 328 citations · Full text

Meckel-gruber-like Syndrome, Developmental Biology, Renal-hepatic-pancreatic Dysplasia +7

Mutations in Multiple PKD Genes May Explain Early and Severe Polycystic Kidney Disease

Carsten Bergmann, Jennifer von Bothmer, Nadina Ortiz Brüchle et al. · Journal of the American Society of Nephrology · 2011 · 229 citations · Full text

Genetics, Renal Pathology, Genetic Epidemiology +26

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

Sylvia Hoff, Jan Halbritter, Daniel Epting et al. · Nature Genetics · 2013 · 198 citations · Full text

Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease

Hao Lu, Maria C. Rondón Galeano, Elisabeth Ott et al. · Nature Genetics · 2017 · 196 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +8

Mutations of the <i>CEP290</i> gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Valeska Frank, Anneke I. den Hollander, Nadina Ortiz Brüchle et al. · Human Mutation · 2007 · 157 citations