Published in J Med Genet on March 01, 2013
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet (2013) 1.51
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat (2013) 1.31
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet (2013) 1.20
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet (2013) 1.16
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat (2013) 1.07
WD60/FAP163 is a dynein intermediate chain required for retrograde intraflagellar transport in cilia. Mol Biol Cell (2013) 1.02
Structure of human cytoplasmic dynein-2 primed for its power stroke. Nature (2014) 0.97
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet (2014) 0.92
Subunit composition of the human cytoplasmic dynein-2 complex. J Cell Sci (2014) 0.91
Loss of primary cilia occurs early in breast cancer development. Cilia (2014) 0.90
A role for the Golgi matrix protein giantin in ciliogenesis through control of the localization of dynein-2. J Cell Sci (2013) 0.88
New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas. Cilia (2013) 0.88
Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish. Development (2013) 0.88
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. PLoS Genet (2013) 0.86
Emerging roles of sumoylation in the regulation of actin, microtubules, intermediate filaments, and septins. Cytoskeleton (Hoboken) (2015) 0.83
Dynein and intraflagellar transport. Exp Cell Res (2015) 0.83
Proteome changes in the small intestinal mucosa of broilers (Gallus gallus) induced by high concentrations of atmospheric ammonia. Proteome Sci (2015) 0.82
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. PLoS One (2016) 0.81
Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Sci Rep (2016) 0.78
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. PLoS One (2015) 0.77
The role of the dynein light intermediate chain in retrograde IFT and flagellar function in Chlamydomonas. Mol Biol Cell (2016) 0.77
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun (2015) 0.77
DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. Sci Rep (2015) 0.77
Microtubule Motors Drive Hedgehog Signaling in Primary Cilia. Trends Cell Biol (2016) 0.76
A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome. Cilia (2016) 0.76
A case of neonatal Jeune syndrome expanding the phenotype. Clin Case Rep (2014) 0.75
Whole exome sequencing in recurrent early pregnancy loss. Mol Hum Reprod (2016) 0.75
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia (2017) 0.75
TCTEX1D2, a potential link to skeletal ciliopathies. Cell Cycle (2015) 0.75
Anesthetic Approach for a Patient with Jeune Syndrome. Case Rep Anesthesiol (2015) 0.75
Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol (2017) 0.75
PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92
The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics (2005) 34.83
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res (2005) 11.02
Intraflagellar transport. Nat Rev Mol Cell Biol (2002) 10.86
Ciliopathies. N Engl J Med (2011) 6.28
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
Dynein structure and power stroke. Nature (2003) 4.25
The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly. J Cell Biol (1999) 3.97
A dynein light chain is essential for the retrograde particle movement of intraflagellar transport (IFT). J Cell Biol (1998) 3.90
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas. Mol Biol Cell (1999) 3.20
A robust model for read count data in exome sequencing experiments and implications for copy number variant calling. Bioinformatics (2012) 3.10
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet (2007) 2.98
Ciliopathies: an expanding disease spectrum. Pediatr Nephrol (2011) 2.95
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax (2011) 2.80
Role of a class DHC1b dynein in retrograde transport of IFT motors and IFT raft particles along cilia, but not dendrites, in chemosensory neurons of living Caenorhabditis elegans. J Cell Biol (1999) 2.67
Distinct functions of nucleotide-binding/hydrolysis sites in the four AAA modules of cytoplasmic dynein. Biochemistry (2004) 2.62
Crystal structure of the dynein motor domain. Science (2011) 2.57
Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology (2012) 2.56
Intraflagellar transport motors in cilia: moving along the cell's antenna. J Cell Biol (2008) 2.44
Distinct mutants of retrograde intraflagellar transport (IFT) share similar morphological and molecular defects. J Cell Biol (1998) 2.41
Genetic analysis of the cytoplasmic dynein subunit families. PLoS Genet (2006) 2.35
Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts. Dev Dyn (2008) 2.30
[Asphyxiating thoracic dystrophy with familial characteristics]. Arch Fr Pediatr (1955) 2.24
Ciliary transition zone activation of phosphorylated Tctex-1 controls ciliary resorption, S-phase entry and fate of neural progenitors. Nat Cell Biol (2011) 2.06
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet (2012) 1.91
Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins. Mol Biol Cell (1994) 1.90
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet (2010) 1.86
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. Am J Hum Genet (2011) 1.77
Complex interactions between genes controlling trafficking in primary cilia. Nat Genet (2011) 1.65
The 2.8 Å crystal structure of the dynein motor domain. Nature (2012) 1.65
Modeling human disease in humans: the ciliopathies. Cell (2011) 1.60
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet (2009) 1.59
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet (2011) 1.58
XBX-1 encodes a dynein light intermediate chain required for retrograde intraflagellar transport and cilia assembly in Caenorhabditis elegans. Mol Biol Cell (2003) 1.57
NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet (2011) 1.56
A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells. Mol Biol Cell (2003) 1.56
Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet (2012) 1.55
Architecture and function of IFT complex proteins in ciliogenesis. Differentiation (2011) 1.55
Insights into dynein motor domain function from a 3.3-Å crystal structure. Nat Struct Mol Biol (2012) 1.51
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. J Med Genet (2012) 1.51
Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor. J Cell Sci (2007) 1.50
A dynein light intermediate chain, D1bLIC, is required for retrograde intraflagellar transport. Mol Biol Cell (2004) 1.44
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38
Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child (1977) 1.37
Jeune syndrome: description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr (2009) 1.35
Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2. Mol Biol Cell (2002) 1.29
The thoracic asphyxiant dystrophy and renal disease. Am J Dis Child (1968) 1.27
SnapShot: Intraflagellar transport. Cell (2009) 1.22
Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum. J Med Genet (2009) 1.14
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. Neurogenetics (2012) 1.13
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Hum Mol Genet (2011) 1.10
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat (2013) 1.07
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. J Med Genet (2009) 1.05
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. J Med Genet (2012) 0.98
A role for Tctex-1 (DYNLT1) in controlling primary cilium length. Eur J Cell Biol (2011) 0.97
The retrograde IFT machinery of C. elegans cilia: two IFT dynein complexes? PLoS One (2011) 0.94
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol (2012) 0.90
Communication between the AAA+ ring and microtubule-binding domain of dynein. Biochem Cell Biol (2010) 0.87
Retinal involvement in thoracic-pelvic-phalangeal dystrophy. Arch Ophthalmol (1978) 0.83
Ocular findings in thoracic-pelvic-phalangeal dystrophy. Arch Ophthalmol (1979) 0.83
Synergistic interaction between ciliary genes reflects the importance of mutational load in ciliopathies. J Am Soc Nephrol (2010) 0.77
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Nat Genet (2007) 19.04
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet (2009) 16.53
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. Nat Genet (2008) 12.43
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Spread of artemisinin resistance in Plasmodium falciparum malaria. N Engl J Med (2014) 11.87
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med (2012) 10.80
Mouse genomic variation and its effect on phenotypes and gene regulation. Nature (2011) 10.66
The pattern of polymorphism in Arabidopsis thaliana. PLoS Biol (2005) 10.13
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet (2011) 9.10
Distinct factors control histone variant H3.3 localization at specific genomic regions. Cell (2010) 8.79
Diagnostic genome profiling in mental retardation. Am J Hum Genet (2005) 8.60
A de novo paradigm for mental retardation. Nat Genet (2010) 8.57
Hyperdynamic plasticity of chromatin proteins in pluripotent embryonic stem cells. Dev Cell (2006) 8.53
A novel CpG island set identifies tissue-specific methylation at developmental gene loci. PLoS Biol (2008) 7.95
Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Nat Genet (2008) 7.71
Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med (2008) 7.66
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet (2004) 6.90
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes. Nat Genet (2007) 6.11
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
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet (2006) 5.92
Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res (2008) 5.90
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
Recombination and linkage disequilibrium in Arabidopsis thaliana. Nat Genet (2007) 5.69
Markov chain Monte Carlo without likelihoods. Proc Natl Acad Sci U S A (2003) 5.67
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet (2003) 5.43
A physical map of the mouse genome. Nature (2002) 4.97
A robust statistical method for case-control association testing with copy number variation. Nat Genet (2008) 4.78
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
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet (2002) 4.64
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
Web-based questionnaires: the future in epidemiology? Am J Epidemiol (2010) 4.15
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
The UK10K project identifies rare variants in health and disease. Nature (2015) 3.89
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
Identification of common variants associated with human hippocampal and intracranial volumes. Nat Genet (2012) 3.73
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69
Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource. Nat Genet (2009) 3.59
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. Hum Mol Genet (2010) 3.50
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet (2010) 3.34
Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (2013) 3.33
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet (2007) 3.22
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev (2004) 3.21
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. N Engl J Med (2011) 3.11
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet (2009) 3.05
Spread of an inactive form of caspase-12 in humans is due to recent positive selection. Am J Hum Genet (2006) 3.00
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet (2007) 2.98
Ciliopathies: an expanding disease spectrum. Pediatr Nephrol (2011) 2.95
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature (2005) 2.90
Disease gene identification strategies for exome sequencing. Eur J Hum Genet (2012) 2.89
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study. BMJ (2010) 2.77
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet (2004) 2.76
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
PTPN22 Trp620 explains the association of chromosome 1p13 with type 1 diabetes and shows a statistical interaction with HLA class II genotypes. Diabetes (2008) 2.74
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet (2009) 2.72
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2011) 2.69
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 a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet (2004) 2.64
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. Nat Genet (2012) 2.63
Unlocking Mendelian disease using exome sequencing. Genome Biol (2011) 2.62
Recurrent CNVs disrupt three candidate genes in schizophrenia patients. Am J Hum Genet (2008) 2.61
Massively parallel sequencing of ataxia genes after array-based enrichment. Hum Mutat (2010) 2.60
Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche. Nat Genet (2009) 2.58
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54