Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney DiseaseMeral Gunay‐Aygun, Theo Heller, Xiongce Zhao et al.|Gastroenterology|2012Cited by 179
Consensus Expert Recommendations for the Diagnosis and Management of Autosomal Recessive Polycystic Kidney Disease: Report of an International ConferenceLisa M. Guay‐Woodford, Marva Moxey‐Mims, John J. Bissler et al.|The Journal of Pediatrics|2014Cited by 178
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt SignalingMarkus Schueler, Friedhelm Hildebrandt, Daniela A. Braun et al.|The American Journal of Human Genetics|2014Cited by 121
Healthcare recommendations for Joubert syndromeRuxandra Bachmann‐Gagescu, Dan Doherty, Jennifer C. Dempsey et al.|American Journal of Medical Genetics Part A|2019Cited by 121
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathyHolger Hengel, Bruno Reversade, Hesham Aldhalaan et al.|Nature Communications|2020Cited by 55