Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases

(2018) Charlotte Gimpel et al.   JAMA Pediatrics

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

(2017) Hao Lu et al.   NATURE GENETICS

Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

(2017) Verity Hartill et al.   Frontiers in Pediatrics

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum

(2016) Ingrid Bader et al.   European Journal of Medical Genetics

Risk Factors for Severe Renal Disease in Bardet–Biedl Syndrome

(2016) Elizabeth Forsythe et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Ciliopathies

(2016) Daniela A. Braun et al.   Cold Spring Harbor Perspectives in Biology

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

Nephronophthisis and related syndromes

(2015) Matthias T.F. Wolf   CURRENT OPINION IN PEDIATRICS

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes

(2015) Asli Ece Solmaz et al.   European Journal of Medical Genetics

Rare inherited disorders with renal involvement—approach to the patient

(2015) Dominique Joly et al.   KIDNEY INTERNATIONAL

A polycystin-centric view of cyst formation and disease: the polycystins revisited

(2015) Albert C.M. Ong et al.   KIDNEY INTERNATIONAL

Autosomal dominant polycystic kidney disease: the changing face of clinical management

(2015) Albert C M Ong et al.   LANCET

HNF1B-associated clinical phenotypes: the kidney and beyond

(2015) Detlef Bockenhauer et al.   PEDIATRIC NEPHROLOGY

Rationale, design and objectives of ARegPKD, a European ARPKD registry study

(2015) Kathrin Ebner et al.   BMC Nephrology

Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes

(2013) Rainer Büscher et al.   PEDIATRIC NEPHROLOGY

Bardet–Biedl syndrome

(2012) Elizabeth Forsythe et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cystic kidney diseases: many ways to form a cyst

(2012) Hannah Loftus et al.   PEDIATRIC NEPHROLOGY

Current insights into renal ciliopathies: what can genetics teach us?

(2012) Heleen H. Arts et al.   PEDIATRIC NEPHROLOGY

The Spectrum of Polycystic Kidney Disease in Children

(2011) Katherine MacRae Dell   ADVANCES IN CHRONIC KIDNEY DISEASE

Educational paper

(2011) Carsten Bergmann   EUROPEAN JOURNAL OF PEDIATRICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ciliopathies: an expanding disease spectrum

(2011) Aoife M. Waters et al.   PEDIATRIC NEPHROLOGY

Unlocking Mendelian disease using exome sequencing

(2011) Christian Gilissen et al.   GENOME BIOLOGY

Diagnosis and management of childhood polycystic kidney disease

(2010) William E. Sweeney et al.   PEDIATRIC NEPHROLOGY

Nephronophthisis: Disease Mechanisms of a Ciliopathy

(2009) F. Hildebrandt et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY