Published in Am J Hum Genet on August 01, 2008
The primary cilium: a signalling centre during vertebrate development. Nat Rev Genet (2010) 8.81
Ciliopathies. N Engl J Med (2011) 6.28
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet (2011) 3.57
Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10
Ciliopathies: an expanding disease spectrum. Pediatr Nephrol (2011) 2.95
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 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
A developmental and genetic classification for midbrain-hindbrain malformations. Brain (2009) 2.47
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2010) 2.45
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites. Nature (2013) 2.07
Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol (2013) 1.83
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet (2009) 1.83
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis (2012) 1.79
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet (2010) 1.76
The role of primary cilia in neuronal function. Neurobiol Dis (2010) 1.69
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet (2013) 1.69
Intraciliary calcium oscillations initiate vertebrate left-right asymmetry. Curr Biol (2015) 1.68
Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet (2009) 1.66
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet (2011) 1.65
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest (2011) 1.60
Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans. J Cell Biol (2010) 1.60
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet (2009) 1.50
Human genetic disorders of axon guidance. Cold Spring Harb Perspect Biol (2010) 1.49
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol (2009) 1.48
The ciliopathies: a transitional model into systems biology of human genetic disease. Curr Opin Genet Dev (2012) 1.44
Cilia in the nervous system: linking cilia function and neurodevelopmental disorders. Curr Opin Neurol (2011) 1.43
The ciliary transition zone: from morphology and molecules to medicine. Trends Cell Biol (2012) 1.43
Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion. Development (2009) 1.42
The small GTPases ARL-13 and ARL-3 coordinate intraflagellar transport and ciliogenesis. J Cell Biol (2010) 1.41
ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. Proc Natl Acad Sci U S A (2012) 1.34
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking. Hum Mol Genet (2009) 1.33
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet (2012) 1.32
Nephronophthisis. Pediatr Nephrol (2010) 1.28
Nephronophthisis. Eur J Hum Genet (2008) 1.27
Cut-like homeobox 1 (CUX1) regulates expression of the fat mass and obesity-associated and retinitis pigmentosa GTPase regulator-interacting protein-1-like (RPGRIP1L) genes and coordinates leptin receptor signaling. J Biol Chem (2010) 1.26
Arl13b in primary cilia regulates the migration and placement of interneurons in the developing cerebral cortex. Dev Cell (2012) 1.21
Trafficking in and to the primary cilium. Cilia (2012) 1.20
The relationship between sonic Hedgehog signaling, cilia, and neural tube defects. Birth Defects Res A Clin Mol Teratol (2010) 1.16
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet (2015) 1.14
Primary cilia in neurodevelopmental disorders. Nat Rev Neurol (2013) 1.14
Arl13b-regulated cilia activities are essential for polarized radial glial scaffold formation. Nat Neurosci (2013) 1.14
The ciliopathy gene cc2d2a controls zebrafish photoreceptor outer segment development through a role in Rab8-dependent vesicle trafficking. Hum Mol Genet (2011) 1.09
Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet (2009) 1.09
Zebrafish kidney development: basic science to translational research. Birth Defects Res C Embryo Today (2011) 1.02
Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole-cilium interface and facilitates proper cilium formation and function. Mol Biol Cell (2014) 1.01
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet (2013) 1.00
Integrative mechanisms of oriented neuronal migration in the developing brain. Annu Rev Cell Dev Biol (2013) 0.99
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. Pediatr Nephrol (2010) 0.98
The role of primary cilia in the development and disease of the retina. Organogenesis (2013) 0.98
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa. Am J Hum Genet (2013) 0.97
Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A (2010) 0.96
The zebrafish orthologue of the dyslexia candidate gene DYX1C1 is essential for cilia growth and function. PLoS One (2013) 0.94
Ciliopathies: the trafficking connection. Traffic (2014) 0.93
SUMOylation of the small GTPase ARL-13 promotes ciliary targeting of sensory receptors. J Cell Biol (2012) 0.93
Photoreceptor sensory cilia and inherited retinal degeneration. Adv Exp Med Biol (2010) 0.91
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish. Vision Res (2012) 0.91
The GTPase IFT27 is involved in both anterograde and retrograde intraflagellar transport. Elife (2014) 0.90
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol (2015) 0.89
A G-protein activation cascade from Arl13B to Arl3 and implications for ciliary targeting of lipidated proteins. Elife (2015) 0.88
The cell surface environment for pathogen recognition and entry. Clin Transl Immunology (2016) 0.88
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. Eur J Hum Genet (2014) 0.87
Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A (2009) 0.85
The molecular basis of retinal dystrophies in pakistan. Genes (Basel) (2014) 0.85
Novel approaches to studying the genetic basis of cerebellar development. Cerebellum (2010) 0.84
Modelling a ciliopathy: Ahi1 knockdown in model systems reveals an essential role in brain, retinal, and renal development. Cell Mol Life Sci (2011) 0.84
Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome. PLoS One (2012) 0.83
Molecular views of Arf-like small GTPases in cilia and ciliopathies. Exp Cell Res (2013) 0.83
The Ca2+-activated Cl- channel ANO1/TMEM16A regulates primary ciliogenesis. Mol Biol Cell (2014) 0.83
The emerging role of Arf/Arl small GTPases in cilia and ciliopathies. J Cell Biochem (2012) 0.83
Cilia in cell signaling and human disorders. Protein Cell (2010) 0.83
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet (2013) 0.81
Arf-like Protein 3 (ARL3) Regulates Protein Trafficking and Ciliogenesis in Mouse Photoreceptors. J Biol Chem (2016) 0.81
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am J Hum Genet (2015) 0.81
The nphp-2 and arl-13 genetic modules interact to regulate ciliogenesis and ciliary microtubule patterning in C. elegans. PLoS Genet (2014) 0.81
Primary Cilia on Horizontal Basal Cells Regulate Regeneration of the Olfactory Epithelium. J Neurosci (2015) 0.81
Functional redundancy between Cdc14 phosphatases in zebrafish ciliogenesis. Dev Dyn (2012) 0.79
Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. J Mol Diagn (2009) 0.79
The Interaction of CCDC104/BARTL1 with Arl3 and Implications for Ciliary Function. Structure (2015) 0.78
Arl13b and the exocyst interact synergistically in ciliogenesis. Mol Biol Cell (2015) 0.78
Joubert syndrome associated with severe central sleep apnea. J Clin Sleep Med (2010) 0.78
Primary Cilia and Mammalian Hedgehog Signaling. Cold Spring Harb Perspect Biol (2016) 0.78
Arl13b regulates Shh signaling from both inside and outside the cilium. Mol Biol Cell (2016) 0.77
Leading-process actomyosin coordinates organelle positioning and adhesion receptor dynamics in radially migrating cerebellar granule neurons. Neural Dev (2014) 0.77
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet (2016) 0.77
MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet (2015) 0.77
Primary cilia in the developing pig testis. Cell Tissue Res (2014) 0.76
DNA methylation levels and long-term trihalomethane exposure in drinking water: an epigenome-wide association study. Epigenetics (2015) 0.76
Yes-associated protein (Yap) is necessary for ciliogenesis and morphogenesis during pronephros development in zebrafish (Danio Rerio). Int J Biol Sci (2015) 0.76
Morphological and functional aspects of progenitors perturbed in cortical malformations. Front Cell Neurosci (2015) 0.76
Sorting of lipidated cargo by the Arl2/Arl3 system. Small GTPases (2016) 0.76
Trafficking to the primary cilium membrane. Mol Biol Cell (2017) 0.75
RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner. Biol Open (2016) 0.75
Systematic review of autosomal recessive ataxias and proposal for a classification. Cerebellum Ataxias (2017) 0.75
Arl13b Interacts With Vangl2 to Regulate Cilia and Photoreceptor Outer Segment Length in Zebrafish. Invest Ophthalmol Vis Sci (2016) 0.75
Dynamics of cilia length in left-right development. R Soc Open Sci (2017) 0.75
Cilia and polycystic kidney disease, kith and kin. Birth Defects Res C Embryo Today (2014) 0.75
The ciliary GTPase Arl13b regulates cell migration and cell cycle progression. Cell Adh Migr (2016) 0.75
GTP-binding of ARL-3 is activated by ARL-13 as a GEF and stabilized by UNC-119. Sci Rep (2016) 0.75
The guanine nucleotide-binding switch in three dimensions. Science (2001) 9.34
Proteomic characterization of the human centrosome by protein correlation profiling. Nature (2003) 8.74
Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog. Neuron (1999) 7.80
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell (2004) 6.10
How to study proteins by circular dichroism. Biochim Biophys Acta (2005) 5.79
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet (2006) 5.36
The graded response to Sonic Hedgehog depends on cilia architecture. Dev Cell (2007) 5.35
Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis. Cell (2004) 5.02
Flagellar motility is required for the viability of the bloodstream trypanosome. Nature (2006) 4.71
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
The small G proteins of the Arf family and their regulators. Annu Rev Cell Dev Biol (2007) 4.14
A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. Development (2004) 3.97
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat Genet (2006) 3.87
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A (2004) 3.75
easyLINKAGE-Plus--automated linkage analyses using large-scale SNP data. Bioinformatics (2005) 3.68
A large-scale insertional mutagenesis screen in zebrafish. Genes Dev (1999) 3.57
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Functional genomics of the cilium, a sensory organelle. Curr Biol (2005) 3.11
Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration. J Cell Biol (2004) 3.01
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Sonic hedgehog signaling is required for expansion of granule neuron precursors and patterning of the mouse cerebellum. Dev Biol (2004) 2.77
A highly informative SNP linkage panel for human genetic studies. Nat Methods (2004) 2.74
Detecting polymorphisms and mutations in candidate genes. Am J Hum Genet (2002) 2.70
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). Am J Hum Genet (2004) 2.67
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet (2004) 2.64
Neuronal regulation of astroglial morphology and proliferation in vitro. J Cell Biol (1985) 2.60
Piecing together a ciliome. Trends Genet (2006) 2.57
"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol (1997) 2.49
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet (2004) 2.47
Analysis of xbx genes in C. elegans. Development (2005) 2.39
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev Biol (2008) 2.38
Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain. J Comp Neurol (2007) 2.37
Ftm is a novel basal body protein of cilia involved in Shh signalling. Development (2007) 2.25
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet (1999) 2.24
The complex of Arl2-GTP and PDE delta: from structure to function. EMBO J (2002) 2.24
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16
Genome-wide transcriptional analysis of flagellar regeneration in Chlamydomonas reinhardtii identifies orthologs of ciliary disease genes. Proc Natl Acad Sci U S A (2005) 2.09
The retinitis pigmentosa GTPase regulator (RPGR)- interacting protein: subserving RPGR function and participating in disk morphogenesis. Proc Natl Acad Sci U S A (2003) 1.96
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet (2003) 1.95
Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. J Neurosci (2007) 1.92
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. Ann Neurol (2006) 1.89
Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet (2003) 1.84
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet (1999) 1.77
Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child (1984) 1.66
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet (2005) 1.58
Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Ann Neurol (2005) 1.54
The structural GDP/GTP cycle of human Arf6. EMBO Rep (2001) 1.50
NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders. J Med Genet (2005) 1.47
ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development. Am J Pathol (2006) 1.45
Transgenic mouse line with green-fluorescent protein-labeled Centrin 2 allows visualization of the centrosome in living cells. Transgenic Res (2004) 1.39
Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis (2006) 1.34
Arf-like GTPases: not so Arf-like after all. Trends Cell Biol (2004) 1.26
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. Am J Med Genet (2000) 1.25
A Rab2 mutant with impaired GTPase activity stimulates vesicle formation from pre-Golgi intermediates. Mol Biol Cell (1999) 1.21
Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am J Med Genet (1989) 1.20
The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology (2008) 1.09
The Purkinje cell cilium. Anat Rec (1969) 0.95
Studies on the developing cerebellum. II. The ultrastructure of the external granular layer. J Comp Neurol (1972) 0.91
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
An SCN9A channelopathy causes congenital inability to experience pain. Nature (2006) 7.01
Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet (2007) 6.75
Flies without centrioles. Cell (2006) 6.06
A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet (2003) 6.03
RIP3 mediates the embryonic lethality of caspase-8-deficient mice. Nature (2011) 6.03
The CATH Domain Structure Database and related resources Gene3D and DHS provide comprehensive domain family information for genome analysis. Nucleic Acids Res (2005) 5.59
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet (2005) 5.48
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 genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet (2006) 5.26
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
CD47 is upregulated on circulating hematopoietic stem cells and leukemia cells to avoid phagocytosis. Cell (2009) 5.22
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
ASPM is a major determinant of cerebral cortical size. Nat Genet (2002) 4.57
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nat Genet (2012) 4.51
Haematopoietic stem cells derive directly from aortic endothelium during development. Nature (2010) 4.42
G protein-coupled receptor-dependent development of human frontal cortex. Science (2004) 4.42
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet (2002) 4.01
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet (2006) 4.01
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet (2006) 3.97
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96
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
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet (2005) 3.76
Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am J Med Genet A (2004) 3.75
BRAF mutations are sufficient to promote nevi formation and cooperate with p53 in the genesis of melanoma. Curr Biol (2005) 3.68
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Functional genomic screen for modulators of ciliogenesis and cilium length. Nature (2010) 3.63
Primary microcephaly: do all roads lead to Rome? Trends Genet (2009) 3.60
Expression of CD41 marks the initiation of definitive hematopoiesis in the mouse embryo. Blood (2002) 3.59
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron (2004) 3.59
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
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet (2012) 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
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol (2011) 3.36
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Ndel1 operates in a common pathway with LIS1 and cytoplasmic dynein to regulate cortical neuronal positioning. Neuron (2004) 3.33
Pilot study of extracorporeal removal of soluble fms-like tyrosine kinase 1 in preeclampsia. Circulation (2011) 3.33
A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. Neuron (2010) 3.31
Hematopoietic stem cell fate is established by the Notch-Runx pathway. Genes Dev (2005) 3.27
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation. Immunity (2003) 3.17
Myc-induced T cell leukemia in transgenic zebrafish. Science (2003) 3.15
A developmental and genetic classification for malformations of cortical development: update 2012. Brain (2012) 3.14
Identification of microcephalin, a protein implicated in determining the size of the human brain. Am J Hum Genet (2002) 3.13
Joubert Syndrome and related disorders. Orphanet J Rare Dis (2010) 3.10
The use of zebrafish to understand immunity. Immunity (2004) 3.09
Plasmacytoid dendritic cells activate lymphoid-specific genetic programs irrespective of their cellular origin. Immunity (2004) 3.09
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet (2002) 3.09
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet (2009) 3.06
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet (2006) 3.06
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06