Published in Science on July 29, 2010
Ciliopathies: an expanding disease spectrum. Pediatr Nephrol (2011) 2.95
Principles of planar polarity in animal development. Development (2011) 2.94
Septins: the fourth component of the cytoskeleton. Nat Rev Mol Cell Biol (2012) 2.77
The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization. EMBO Rep (2012) 2.17
Septin structure and function in yeast and beyond. Trends Cell Biol (2010) 1.99
Strange as it may seem: the many links between Wnt signaling, planar cell polarity, and cilia. Genes Dev (2011) 1.94
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. J Med Genet (2012) 1.79
Evolution: Tracing the origins of centrioles, cilia, and flagella. J Cell Biol (2011) 1.69
Planar cell polarity: coordinating morphogenetic cell behaviors with embryonic polarity. Dev Cell (2011) 1.64
Vertebrate kidney tubules elongate using a planar cell polarity-dependent, rosette-based mechanism of convergent extension. Nat Genet (2012) 1.62
Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet (2011) 1.60
Xenopus research: metamorphosed by genetics and genomics. Trends Genet (2011) 1.58
Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access. J Cell Biol (2012) 1.55
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet (2016) 1.55
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet (2012) 1.54
A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened. PLoS Genet (2011) 1.49
Proteomic analysis of mammalian primary cilia. Curr Biol (2012) 1.45
The ciliopathies: a transitional model into systems biology of human genetic disease. Curr Opin Genet Dev (2012) 1.44
The roles of evolutionarily conserved functional modules in cilia-related trafficking. Nat Cell Biol (2013) 1.42
Septin filaments exhibit a dynamic, paired organization that is conserved from yeast to mammals. J Cell Biol (2011) 1.41
Subunit-dependent modulation of septin assembly: budding yeast septin Shs1 promotes ring and gauze formation. J Cell Biol (2011) 1.40
Deciphering the rules governing assembly order of mammalian septin complexes. Mol Biol Cell (2011) 1.35
The emerging functions of septins in metazoans. EMBO Rep (2011) 1.34
BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes. Hum Mol Genet (2012) 1.33
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A (2011) 1.32
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum Mol Genet (2014) 1.29
PCP and septins compartmentalize cortical actomyosin to direct collective cell movement. Science (2014) 1.24
Understanding ciliated epithelia: the power of Xenopus. Genesis (2011) 1.23
Coordinated genomic control of ciliogenesis and cell movement by RFX2. Elife (2014) 1.20
The cell biology of planar cell polarity. J Cell Biol (2014) 1.19
New insights into the phylogenetic distribution and evolutionary origins of the septins. Biol Chem (2011) 1.11
Control of vertebrate intraflagellar transport by the planar cell polarity effector Fuz. J Cell Biol (2012) 1.11
Planar cell polarity signaling: coordination of cellular orientation across tissues. Wiley Interdiscip Rev Dev Biol (2013) 1.11
Septin functions in organ system physiology and pathology. Biol Chem (2014) 1.10
Spatial guidance of cell asymmetry: septin GTPases show the way. Traffic (2011) 1.10
Wdpcp, a PCP protein required for ciliogenesis, regulates directional cell migration and cell polarity by direct modulation of the actin cytoskeleton. PLoS Biol (2013) 1.09
Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity. Hum Mol Genet (2010) 1.09
RFX2 is broadly required for ciliogenesis during vertebrate development. Dev Biol (2011) 1.06
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci (2011) 1.05
Septins 2, 7 and 9 and MAP4 colocalize along the axoneme in the primary cilium and control ciliary length. J Cell Sci (2013) 1.04
Ciliary diffusion barrier: the gatekeeper for the primary cilium compartment. Cytoskeleton (Hoboken) (2011) 1.04
Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting. Proc Natl Acad Sci U S A (2011) 1.03
Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly. Mol Syndromol (2011) 1.03
Molecular basis of the obesity associated with Bardet-Biedl syndrome. Trends Endocrinol Metab (2011) 1.01
Update on the genetics of bardet-biedl syndrome. Mol Syndromol (2013) 1.00
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators. J Clin Invest (2014) 1.00
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. PLoS Genet (2013) 1.00
The role of the cilium in normal and abnormal cell cycles: emphasis on renal cystic pathologies. Cell Mol Life Sci (2012) 0.99
BBS mutations modify phenotypic expression of CEP290-related ciliopathies. Hum Mol Genet (2013) 0.99
Cilia, Wnt signaling, and the cytoskeleton. Cilia (2012) 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
Disruption of planar cell polarity activity leads to developmental biliary defects. Dev Biol (2011) 0.97
The extracellular signal-regulated kinase 3 (mitogen-activated protein kinase 6 [MAPK6])-MAPK-activated protein kinase 5 signaling complex regulates septin function and dendrite morphology. Mol Cell Biol (2012) 0.96
Keeping the balance between proliferation and differentiation: the primary cilium. Curr Genomics (2011) 0.96
Planar cell polarity in Drosophila. Organogenesis (2011) 0.95
Dissecting the molecular basis of organ of Corti development: Where are we now? Hear Res (2011) 0.95
Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment. Cell Cycle (2012) 0.95
Ciliopathies: the trafficking connection. Traffic (2014) 0.93
Inversin/Nephrocystin-2 is required for fibroblast polarity and directional cell migration. PLoS One (2013) 0.92
How to form and close the brain: insight into the mechanism of cranial neural tube closure in mammals. Cell Mol Life Sci (2012) 0.92
Mink1 regulates β-catenin-independent Wnt signaling via Prickle phosphorylation. Mol Cell Biol (2011) 0.92
Planar cell polarity signaling in collective cell movements during morphogenesis and disease. Curr Genomics (2012) 0.91
A role for septin 2 in Drp1-mediated mitochondrial fission. EMBO Rep (2016) 0.90
Septin-2 mediates airway epithelial barrier function in physiologic and pathologic conditions. Am J Respir Cell Mol Biol (2010) 0.90
Architectural insights into a ciliary partition. Curr Biol (2013) 0.89
Control of vertebrate core planar cell polarity protein localization and dynamics by Prickle 2. Development (2015) 0.89
Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects. PLoS One (2012) 0.89
Embryonic development of goldfish (Carassius auratus): a model for the study of evolutionary change in developmental mechanisms by artificial selection. Dev Dyn (2013) 0.89
A sphingolipid-dependent diffusion barrier confines ER stress to the yeast mother cell. Elife (2014) 0.89
Life's demons: information and order in biology. What subcellular machines gather and process the information necessary to sustain life? EMBO Rep (2011) 0.87
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome. Hum Genet (2012) 0.87
The planar cell polarity pathway in vertebrate epidermal development, homeostasis and repair. Organogenesis (2011) 0.87
From the cytoplasm into the cilium: bon voyage. Organogenesis (2014) 0.86
A secretory cell type develops alongside multiciliated cells, ionocytes and goblet cells, and provides a protective, anti-infective function in the frog embryonic mucociliary epidermis. Development (2014) 0.86
Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet (2016) 0.85
Ciliogenesis in normal human kidney development and post-natal life. Pediatr Nephrol (2011) 0.85
Cell biology. Septins at the nexus. Science (2010) 0.85
Uncovering principles that control septin-septin interactions. J Biol Chem (2012) 0.85
Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J Cell Sci (2012) 0.85
Live imaging of whole mouse embryos during gastrulation: migration analyses of epiblast and mesodermal cells. PLoS One (2013) 0.84
The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex. Hum Mol Genet (2013) 0.84
Primary cilia and dendritic spines: different but similar signaling compartments. Mol Cells (2013) 0.84
Sept6 is required for ciliogenesis in Kupffer's vesicle, the pronephros, and the neural tube during early embryonic development. Mol Cell Biol (2014) 0.84
Molecular views of Arf-like small GTPases in cilia and ciliopathies. Exp Cell Res (2013) 0.83
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One (2014) 0.83
Transport and localization of signaling proteins in ciliated cells. Vision Res (2012) 0.83
Mutations in a guanylate cyclase GCY-35/GCY-36 modify Bardet-Biedl syndrome-associated phenotypes in Caenorhabditis elegans. PLoS Genet (2011) 0.83
From Planar Cell Polarity to Ciliogenesis and Back: The Curious Tale of the PPE and CPLANE proteins. Trends Cell Biol (2017) 0.83
Septin dynamics are essential for exocytosis. J Biol Chem (2015) 0.82
Structural defects in cilia of the choroid plexus, subfornical organ and ventricular ependyma are associated with ventriculomegaly. Fluids Barriers CNS (2012) 0.82
Uncovering the Roles of Septins in Cilia. Front Cell Dev Biol (2017) 0.82
Planar cell polarity effector gene Intu regulates cell fate-specific differentiation of keratinocytes through the primary cilia. Cell Death Differ (2012) 0.81
Sept7b is essential for pronephric function and development of left-right asymmetry in zebrafish embryogenesis. J Cell Sci (2014) 0.81
Rho1- and Pkc1-dependent phosphorylation of the F-BAR protein Syp1 contributes to septin ring assembly. Mol Biol Cell (2015) 0.81
Permeability barriers for generating a unique ciliary protein and lipid composition. Curr Opin Cell Biol (2016) 0.80
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23). Elife (2015) 0.80
PAPC mediates self/non-self-distinction during Snail1-dependent tissue separation. J Cell Biol (2015) 0.80
Protein phosphatase 1 β paralogs encode the zebrafish myosin phosphatase catalytic subunit. PLoS One (2013) 0.80
Silberblick/Wnt11 mediates convergent extension movements during zebrafish gastrulation. Nature (2000) 5.52
Dishevelled controls cell polarity during Xenopus gastrulation. Nature (2000) 4.91
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
Self- and actin-templated assembly of Mammalian septins. Dev Cell (2002) 4.48
Shaping the vertebrate body plan by polarized embryonic cell movements. Science (2002) 4.35
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution. Science (2010) 4.11
Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. Nat Genet (2006) 3.97
Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells. Nat Genet (2008) 3.84
Ciliary proteins link basal body polarization to planar cell polarity regulation. Nat Genet (2007) 3.79
Zebrafish trilobite identifies new roles for Strabismus in gastrulation and neuronal movements. Nat Cell Biol (2002) 3.49
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation. Development (2006) 2.96
Neural tube closure requires Dishevelled-dependent convergent extension of the midline. Development (2002) 2.52
Septins and the lateral compartmentalization of eukaryotic membranes. Dev Cell (2009) 2.44
The septin family of GTPases: architecture and dynamics. Nat Rev Mol Cell Biol (2008) 2.38
Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus. Nat Neurosci (2010) 2.18
Molecular characterization of centriole assembly in ciliated epithelial cells. J Cell Biol (2007) 2.13
Cell motility driving mediolateral intercalation in explants of Xenopus laevis. Development (1992) 2.02
The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. Nat Cell Biol (2009) 1.90
Amoeboid T lymphocytes require the septin cytoskeleton for cortical integrity and persistent motility. Nat Cell Biol (2008) 1.88
Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya. Nat Genet (2006) 1.76
Septin-mediated uniform bracing of phospholipid membranes. Curr Biol (2009) 1.68
Identification of novel ciliogenesis factors using a new in vivo model for mucociliary epithelial development. Dev Biol (2007) 1.46
Forchlorfenuron alters mammalian septin assembly, organization, and dynamics. J Biol Chem (2008) 1.43
PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals. Dev Biol (2010) 1.29
The cellular basis of the convergence and extension of the Xenopus neural plate. Dev Dyn (1992) 1.25
The WD40 repeat protein fritz links cytoskeletal planar polarity to frizzled subcellular localization in the Drosophila epidermis. Genetics (2005) 1.15
Regional requirements for Dishevelled signaling during Xenopus gastrulation: separable effects on blastopore closure, mesendoderm internalization and archenteron formation. Development (2004) 1.10
Forchlorfenuron, a phenylurea cytokinin, disturbs septin organization in Saccharomyces cerevisiae. Genes Genet Syst (2004) 1.04
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62
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Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell (2004) 6.10
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature (2003) 5.96
The vertebrate primary cilium in development, homeostasis, and disease. Cell (2009) 5.29
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet (2007) 4.93
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet (2008) 4.68
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63
Toll-like receptor 3 and geographic atrophy in age-related macular degeneration. N Engl J Med (2008) 4.46
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling. 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
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nat Genet (2004) 3.86
Dishevelled controls apical docking and planar polarization of basal bodies in ciliated epithelial cells. Nat Genet (2008) 3.84
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66
Mutations in VANGL1 associated with neural-tube defects. N Engl J Med (2007) 3.58
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet (2011) 3.57
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. Nat Genet (2011) 3.55
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). Proc Natl Acad Sci U S A (2010) 3.33
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev (2004) 3.21
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest (2009) 3.19
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
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet (2006) 2.97
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96
Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation. Development (2006) 2.96
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature (2005) 2.90
Wnt9b signaling regulates planar cell polarity and kidney tubule morphogenesis. Nat Genet (2009) 2.84
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
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
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet (2004) 2.64
Systematic discovery of nonobvious human disease models through orthologous phenotypes. Proc Natl Acad Sci U S A (2010) 2.61
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54
Shroom induces apical constriction and is required for hingepoint formation during neural tube closure. Curr Biol (2003) 2.49
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 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
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome. Am J Hum Genet (2006) 2.44
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet (2003) 2.37
The centrosome in human genetic disease. Nat Rev Genet (2005) 2.25
ECM microenvironment regulates collective migration and local dissemination in normal and malignant mammary epithelium. Proc Natl Acad Sci U S A (2012) 2.20
Nde1-mediated inhibition of ciliogenesis affects cell cycle re-entry. Nat Cell Biol (2011) 2.15
Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet (2003) 2.15
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. Am J Hum Genet (2009) 2.14
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. Nat Genet (2013) 2.11
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet (2009) 2.07
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nat Genet (2004) 2.04
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet (2003) 2.04
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Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet (2005) 1.98
Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration. Hum Mol Genet (2011) 1.98
Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Invest Ophthalmol Vis Sci (2006) 1.96
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. Nat Genet (2012) 1.96
Phenotypic clustering in MPZ mutations. Brain (2004) 1.94
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. Nat Cell Biol (2009) 1.90
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet (2003) 1.87
Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2006) 1.85
Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst (2003) 1.83
Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration. PLoS Genet (2010) 1.83
Lessons in molecular recognition: the effects of ligand and protein flexibility on molecular docking accuracy. J Med Chem (2004) 1.79
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration. Nat Genet (2013) 1.77
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet (2010) 1.76
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy. Nat Genet (2012) 1.75
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science (2012) 1.74
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. J Cell Sci (2005) 1.73
Asymmetric flaccid paralysis: a neuromuscular presentation of West Nile virus infection. Ann Neurol (2003) 1.72
Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1A. Brain (2009) 1.70
A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet (2005) 1.68
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
Shroom family proteins regulate gamma-tubulin distribution and microtubule architecture during epithelial cell shape change. Development (2007) 1.64