Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract

Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

(2014) Camille Humbert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

(2014) Daw-Yang Hwang et al.   KIDNEY INTERNATIONAL

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

(2014) Asaf Vivante et al.   PEDIATRIC NEPHROLOGY

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

(2013) Jan Halbritter et al.   HUMAN GENETICS

TNXB Mutations Can Cause Vesicoureteral Reflux

(2013) R. A. Gbadegesin et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux

(2013) Mark G. Dobson et al.   KIDNEY INTERNATIONAL

Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

(2013) Pawaree Saisawat et al.   KIDNEY INTERNATIONAL

srGAP1 regulates lamellipodial dynamics and cell migratory behavior by modulating Rac1 activity

(2013) Daisuke Yamazaki et al.   MOLECULAR BIOLOGY OF THE CELL

Mutations in DSTYK and Dominant Urinary Tract Malformations

(2013) S. Sanna-Cherchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lower urinary tract development and disease

(2013) Hila Milo Rasouly et al.   Wiley Interdisciplinary Reviews-Systems Biology and Medicine

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

(2012) Moumita Chaki et al.   CELL

High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing

(2012) Jan Halbritter et al.   JOURNAL OF MEDICAL GENETICS

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

(2012) Lynn M. Boyden et al.   NATURE

Inhibitory Effects of Robo2 on Nephrin: A Crosstalk between Positive and Negative Signals Regulating Podocyte Structure

(2012) Xueping Fan et al.   Cell Reports

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

(2011) C. Jeanpierre et al.   JOURNAL OF MEDICAL GENETICS

Systematic Analysis of a Novel Human Renal Glomerulus-Enriched Gene Expression Dataset

(2010) Maja T. Lindenmeyer et al.   PLoS One

ROBO2 Gene Variants Are Associated with Familial Vesicoureteral Reflux

(2008) A. M. Bertoli-Avella et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY