Published in Hum Genet on May 31, 2015
Exploring the genetic basis of early-onset chronic kidney disease. Nat Rev Nephrol (2016) 0.94
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract. J Am Soc Nephrol (2016) 0.82
Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract. Nephrol Dial Transplant (2016) 0.76
Renal development in the fetus and premature infant. Semin Fetal Neonatal Med (2017) 0.75
SLIT2/ROBO2 signaling pathway inhibits nonmuscle myosin IIA activity and destabilizes kidney podocyte adhesion. JCI Insight (2016) 0.75
Tyrosine dephosphorylated cortactin downregulates contractility at the epithelial zonula adherens through SRGAP1. Nat Commun (2017) 0.75
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT). Hum Genet (2015) 0.75
Guidelines for investigating causality of sequence variants in human disease. Nature (2014) 7.30
Slit proteins bind Robo receptors and have an evolutionarily conserved role in repulsive axon guidance. Cell (1999) 5.42
Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature (1996) 4.37
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
Signal transduction in neuronal migration: roles of GTPase activating proteins and the small GTPase Cdc42 in the Slit-Robo pathway. Cell (2001) 3.44
SLIT2-mediated ROBO2 signaling restricts kidney induction to a single site. Dev Cell (2004) 2.74
Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med (2013) 2.63
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association. Kidney Int (2013) 2.34
GDNF/Ret signaling and the development of the kidney. Bioessays (2006) 2.27
GDNF signalling through the Ret receptor tyrosine kinase. Nature (1996) 2.21
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet (2012) 2.04
Paradigm shift from classic anatomic theories to contemporary cell biological views of CAKUT. Kidney Int (2002) 1.89
Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet (2007) 1.85
Contributions of the Transplant Registry: The 2006 Annual Report of the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS). Pediatr Transplant (2007) 1.81
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet (2013) 1.69
Slit2-Mediated chemorepulsion and collapse of developing forebrain axons. Neuron (1999) 1.69
TNXB mutations can cause vesicoureteral reflux. J Am Soc Nephrol (2013) 1.59
Glial cell line-derived neurotrophic factor activates the receptor tyrosine kinase RET and promotes kidney morphogenesis. Proc Natl Acad Sci U S A (1996) 1.58
GDNF induces branching and increased cell proliferation in the ureter of the mouse. Dev Biol (1997) 1.56
Multiple roles for slits in the control of cell migration in the rostral migratory stream. J Neurosci (2004) 1.32
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney Int (2014) 1.25
The RET-glial cell-derived neurotrophic factor (GDNF) pathway stimulates migration and chemoattraction of epithelial cells. J Cell Biol (1998) 1.22
Expression of the vertebrate Slit gene family and their putative receptors, the Robo genes, in the developing murine kidney. Mech Dev (2000) 1.20
Systematic analysis of a novel human renal glomerulus-enriched gene expression dataset. PLoS One (2010) 1.18
Dominantly inherited renal adysplasia. Am J Med Genet (1987) 1.11
Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Pediatr Nephrol (2014) 1.11
RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects. J Med Genet (2011) 1.01
ROBO2 gene variants are associated with familial vesicoureteral reflux. J Am Soc Nephrol (2008) 0.98
Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract. J Am Soc Nephrol (2014) 0.95
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. Am J Hum Genet (2014) 0.92
Investigations of neuronal migration in the central nervous system. Methods Mol Biol (2005) 0.91
Structural basis of Robo proline-rich motif recognition by the srGAP1 Src homology 3 domain in the Slit-Robo signaling pathway. J Biol Chem (2006) 0.89
Lower urinary tract development and disease. Wiley Interdiscip Rev Syst Biol Med (2013) 0.87
srGAP1 regulates lamellipodial dynamics and cell migratory behavior by modulating Rac1 activity. Mol Biol Cell (2013) 0.87
Inhibitory effects of Robo2 on nephrin: a crosstalk between positive and negative signals regulating podocyte structure. Cell Rep (2012) 0.86
Vesicoureteral reflux, reflux nephropathy, and end-stage renal disease. Adv Urol (2008) 0.84
Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux. Kidney Int (2013) 0.81
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature (2012) 13.61
Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet (2003) 13.33
High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med (2002) 11.28
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (2005) 8.20
Nonvalidation of reported genetic risk factors for acute coronary syndrome in a large-scale replication study. JAMA (2007) 7.12
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet (2012) 7.00
Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease. N Engl J Med (2010) 6.45
Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature (2010) 6.26
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. Am J Hum Genet (2008) 5.44
K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science (2011) 5.40
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet (2006) 5.29
Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet (2003) 5.24
De novo mutations in histone-modifying genes in congenital heart disease. Nature (2013) 5.15
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (2007) 4.27
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature (2012) 4.26
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion. Nat Genet (2003) 4.08
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell (2011) 3.95
In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet (2006) 3.90
HomozygosityMapper--an interactive approach to homozygosity mapping. Nucleic Acids Res (2009) 3.86
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet (2006) 3.57
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet (2011) 3.57
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol (2004) 3.55
Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55
Molecular pathogenesis of inherited hypertension with hyperkalemia: the Na-Cl cotransporter is inhibited by wild-type but not mutant WNK4. Proc Natl Acad Sci U S A (2003) 3.48
Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO. Science (2013) 3.45
Autophagy influences glomerular disease susceptibility and maintains podocyte homeostasis in aging mice. J Clin Invest (2010) 3.44
Minimum information specification for in situ hybridization and immunohistochemistry experiments (MISFISHIE). Nat Biotechnol (2008) 3.43
AKT2 is essential to maintain podocyte viability and function during chronic kidney disease. Nat Med (2013) 3.41
Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics (2007) 3.39
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Wnt3a plays a major role in the segmentation clock controlling somitogenesis. Dev Cell (2003) 3.15
Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15
The tissue-specific lncRNA Fendrr is an essential regulator of heart and body wall development in the mouse. Dev Cell (2013) 3.14
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function. Nature (2012) 2.99
L-histidine decarboxylase and Tourette's syndrome. N Engl J Med (2010) 2.92
Cyclosporin A is superior to cyclophosphamide in children with steroid-resistant nephrotic syndrome-a randomized controlled multicentre trial by the Arbeitsgemeinschaft für Pädiatrische Nephrologie. Pediatr Nephrol (2008) 2.92
Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91
Role of mTOR in podocyte function and diabetic nephropathy in humans and mice. J Clin Invest (2011) 2.90
A gene expression map of human chromosome 21 orthologues in the mouse. Nature (2002) 2.76
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat Genet (2012) 2.74
mTORC1 activation in podocytes is a critical step in the development of diabetic nephropathy in mice. J Clin Invest (2011) 2.72
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet (2008) 2.65
MYO1E mutations and childhood familial focal segmental glomerulosclerosis. N Engl J Med (2011) 2.65
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Molecular physiology of the WNK kinases. Annu Rev Physiol (2008) 2.58
Rip1 (receptor-interacting protein kinase 1) mediates necroptosis and contributes to renal ischemia/reperfusion injury. Kidney Int (2012) 2.55
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab (2008) 2.48
Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis. Nat Genet (2007) 2.46
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res (2006) 2.46
Centrosomes and cilia in human disease. Trends Genet (2011) 2.42
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A (2009) 2.41
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J Am Soc Nephrol (2002) 2.40
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol (2008) 2.39
A dynamic network model of mTOR signaling reveals TSC-independent mTORC2 regulation. Sci Signal (2012) 2.36
A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet (2002) 2.34
Skint1, the prototype of a newly identified immunoglobulin superfamily gene cluster, positively selects epidermal gammadelta T cells. Nat Genet (2008) 2.31
Angiotensin II signaling increases activity of the renal Na-Cl cotransporter through a WNK4-SPAK-dependent pathway. Proc Natl Acad Sci U S A (2009) 2.30
Efficient generation and mapping of recessive developmental mutations using ENU mutagenesis. Nat Genet (2002) 2.30
Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10. Science (2010) 2.21
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. J Clin Invest (2011) 2.21
Roles of the cation-chloride cotransporters in neurological disease. Nat Clin Pract Neurol (2008) 2.19
Evidence that opioids may have toll-like receptor 4 and MD-2 effects. Brain Behav Immun (2009) 2.19
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. Am J Med Genet A (2008) 2.17
Podocytes use FcRn to clear IgG from the glomerular basement membrane. Proc Natl Acad Sci U S A (2008) 2.12
Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation. EMBO J (2005) 2.12
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS One (2010) 2.10
Inducible podocyte injury and proteinuria in transgenic zebrafish. J Am Soc Nephrol (2012) 2.10
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet (2013) 2.09
Individual genomes on the horizon. N Engl J Med (2010) 2.09
Proteinuria impairs podocyte regeneration by sequestering retinoic acid. J Am Soc Nephrol (2013) 2.09
Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet (2006) 2.07
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet (2008) 2.06
High-throughput mutation analysis in patients with a nephronophthisis-associated ciliopathy applying multiplexed barcoded array-based PCR amplification and next-generation sequencing. J Med Genet (2012) 2.04
Prorenin receptor is essential for podocyte autophagy and survival. J Am Soc Nephrol (2011) 2.04
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinoma. Proc Natl Acad Sci U S A (2013) 2.02
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. PLoS Genet (2009) 2.02
A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish. Development (2002) 2.00
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol (2008) 1.97
Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol (2007) 1.97