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

Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease

(2020) Vinh T. Huynh et al.   KIDNEY INTERNATIONAL

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

(2019) Simon A. Ramsbottom et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2018) Emilie Cornec-Le Gall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

(2017) Shalabh Srivastava et al.   HUMAN MOLECULAR GENETICS

Targeted Exome Sequencing IdentifiesPBX1as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

(2017) Laurence Heidet et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

CPAP promotes timely cilium disassembly to maintain neural progenitor pool

(2016) Elke Gabriel et al.   EMBO JOURNAL

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

(2016) Valentina Grampa et al.   PLoS Genetics

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease

(2015) M.-P. Audrezet et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Polycystin-1: a master regulator of intersecting cystic pathways

(2014) Sorin V. Fedeles et al.   TRENDS IN MOLECULAR MEDICINE

Renal-hepatic-pancreatic dysplasia: A sibship with skeletal and central nervous system anomalies andNPHP3mutation

(2013) Lawrence Copelovitch et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2011) C. Bergmann et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease

(2009) Erick Denamur et al.   KIDNEY INTERNATIONAL

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

(2008) Carsten Bergmann et al.   AMERICAN JOURNAL OF HUMAN GENETICS