Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking. J Cell Biol (2012) 1.54

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet (2013) 1.51

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet (2013) 1.39

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

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

Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet (2014) 1.09

Current insights into renal ciliopathies: what can genetics teach us? Pediatr Nephrol (2012) 1.08

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. PLoS One (2016) 1.07

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Hum Mutat (2013) 1.07

Cilia and Diseases. Bioscience (2014) 1.02

Mutations of CEP83 cause infantile nephronophthisis and intellectual disability. Am J Hum Genet (2014) 1.00

The role of primary cilia in the development and disease of the retina. Organogenesis (2013) 0.98

Direct evidence for BBSome-associated intraflagellar transport reveals distinct properties of native mammalian cilia. Nat Commun (2014) 0.98

Deacetylation of α-tubulin and cortactin is required for HDAC6 to trigger ciliary disassembly. Sci Rep (2015) 0.94

Getting to the heart of intraflagellar transport using Trypanosoma and Chlamydomonas models: the strength is in their differences. Cilia (2013) 0.91

Distinct functions for IFT140 and IFT20 in opsin transport. Cytoskeleton (Hoboken) (2014) 0.89

Nephronophthisis and related syndromes. Curr Opin Pediatr (2015) 0.89

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. Nat Commun (2015) 0.88

Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet (2015) 0.88

New mutations in flagellar motors identified by whole genome sequencing in Chlamydomonas. Cilia (2013) 0.88

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies. Genet Med (2015) 0.88

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization. Nat Commun (2015) 0.87

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome. PLoS Genet (2013) 0.86

Emerging role of primary cilia as mechanosensors in osteocytes. Bone (2012) 0.86

Specialized Cilia in Mammalian Sensory Systems. Cells (2015) 0.85

Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease. PLoS One (2013) 0.85

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. J Med Genet (2015) 0.81

The intraflagellar transport dynein complex of trypanosomes is made of a heterodimer of dynein heavy chains and of light and intermediate chains of distinct functions. Mol Biol Cell (2014) 0.80

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies. Cilia (2015) 0.80

Role for the IFT-A Complex in Selective Transport to the Primary Cilium. Cell Rep (2016) 0.79

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

Cilia/Ift protein and motor -related bone diseases and mouse models. Front Biosci (Landmark Ed) (2015) 0.78

Primary Cilia and Mammalian Hedgehog Signaling. Cold Spring Harb Perspect Biol (2016) 0.78

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport. Nat Commun (2015) 0.77

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet (2016) 0.77

New insights into an old organelle: meeting report on biology of cilia and flagella. Traffic (2014) 0.75

Functional exploration of the IFT-A complex in intraflagellar transport and ciliogenesis. PLoS Genet (2017) 0.75

A case of neonatal Jeune syndrome expanding the phenotype. Clin Case Rep (2014) 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

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome. Hum Mol Genet (2016) 0.75

Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. Ophthalmic Genet (2017) 0.75

Ciliopathies. N Engl J Med (2011) 6.28

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet (2005) 3.55

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47

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

Functional analysis of an individual IFT protein: IFT46 is required for transport of outer dynein arms into flagella. J Cell Biol (2007) 2.16

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98

CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat (2010) 1.89

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. Am J Hum Genet (2010) 1.86

Intraflagellar transport and functional analysis of genes required for flagellum formation in trypanosomes. Mol Biol Cell (2007) 1.69

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet (2011) 1.66

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet (2011) 1.58

ODA16 aids axonemal outer row dynein assembly through an interaction with the intraflagellar transport machinery. J Cell Biol (2008) 1.53

Retrograde intraflagellar transport mutants identify complex A proteins with multiple genetic interactions in Chlamydomonas reinhardtii. Genetics (2009) 1.52

An IFT-A protein is required to delimit functionally distinct zones in mechanosensory cilia. Curr Biol (2008) 1.46

IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2011) 1.43

Direct interactions of intraflagellar transport complex B proteins IFT88, IFT52, and IFT46. J Biol Chem (2010) 1.31

SnapShot: Intraflagellar transport. Cell (2009) 1.22

Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation. J Am Soc Nephrol (2012) 1.16

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

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome. Arch Ophthalmol (2011) 1.04

Intraflagellar transport proteins in ciliogenesis of photoreceptor cells. Biol Cell (2011) 1.03

Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet A (2007) 0.82

Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01

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

Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat Genet (2007) 4.99

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet (2007) 4.63

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet (2004) 4.58

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet (2003) 3.96

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet (2006) 3.69

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet (2010) 3.66

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med (2011) 3.63

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07

CX3CR1+ CD115+ CD135+ common macrophage/DC precursors and the role of CX3CR1 in their response to inflammation. J Exp Med (2009) 3.07

Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet (2009) 3.03

Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science (2004) 3.01

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet (2006) 2.96

Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med (2011) 2.93

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nat Genet (2013) 2.91

Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet (2002) 2.91

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol (2006) 2.89

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet (2012) 2.86

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet (2008) 2.68

Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol (2008) 2.64

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64

Rituximab treatment for severe steroid- or cyclosporine-dependent nephrotic syndrome: a multicentric series of 22 cases. Pediatr Nephrol (2008) 2.64

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol (2011) 2.63

miR-122, a paradigm for the role of microRNAs in the liver. J Hepatol (2008) 2.61

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell (2012) 2.54

Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol (2010) 2.48

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Dev Cell (2012) 2.43

The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet (2002) 2.41

Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant. Kidney Int (2009) 2.40

Ellis-van Creveld syndrome. Orphanet J Rare Dis (2007) 2.38

Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects. Mol Aspects Med (2004) 2.32

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31

SIX2 and BMP4 mutations associate with anomalous kidney development. J Am Soc Nephrol (2008) 2.30

Podocin localizes in the kidney to the slit diaphragm area. Am J Pathol (2002) 2.29

Ophthalmologic findings in suspected child abuse victims with subdural hematomas. Ophthalmology (2003) 2.27

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. Am J Hum Genet (2007) 2.22

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Invest Ophthalmol Vis Sci (2005) 2.20

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nat Genet (2007) 2.16

X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol (2003) 2.12

Increased lysosomal proteolysis counteracts protein accumulation in the proximal tubule during focal segmental glomerulosclerosis. Kidney Int (2013) 2.12

Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10

Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. Am J Hum Genet (2009) 2.09

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int (2004) 2.08

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest (2009) 2.08

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol (2007) 2.06

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet (2013) 2.06

Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans. Nat Genet (2011) 2.04

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet (2007) 2.03

Specific genetic disorders and autism: clinical contribution towards their identification. J Autism Dev Disord (2005) 2.03

COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med (2007) 2.02

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02

Early diagnosis of fibrodysplasia ossificans progressiva. Pediatrics (2008) 2.02