Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia

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 · 331 citations · Full text

Life Sciences, Developmental Biology, Genetics +14

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

Émilie Cornec-Le Gall, Rory J. Olson, Whitney Besse et al. · The American Journal of Human Genetics · 2018 · 313 citations · Full text

Medicine, Genetics, Molecular Genetics +11

CPAP promotes timely cilium disassembly to maintain neural progenitor pool

Elke Gabriel, Arpit Wason, Anand Ramani et al. · The EMBO Journal · 2016 · 247 citations · Full text

Life Sciences, Cell Biology, Developmental Biology +17

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 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Implications of Agenesis of the Spleen on the Pathogenesis of Conotruncus Anomalies in Childhood

Biörn Ivemark · Acta Paediatrica · 1955 · 233 citations

Life Sciences, Anatomy, Developmental Biology +13