Published in Am J Hum Genet on May 20, 2010
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. Am J Hum Genet (2010) 3.47
Ciliopathies: an expanding disease spectrum. Pediatr Nephrol (2011) 2.95
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet (2013) 1.90
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet (2011) 1.66
Complex interactions between genes controlling trafficking in primary cilia. Nat Genet (2011) 1.65
Stages of ciliogenesis and regulation of ciliary length. Differentiation (2011) 1.59
Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components. Proc Natl Acad Sci U S A (2011) 1.58
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet (2013) 1.51
Cilia in vertebrate development and disease. Development (2012) 1.50
A genetic signature of the evolution of loss of flight in the Galapagos cormorant. Science (2017) 1.40
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
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. J Clin Invest (2011) 1.31
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
Primary cilia and coordination of receptor tyrosine kinase (RTK) signalling. J Pathol (2011) 1.27
Cilia functions in development. Curr Opin Cell Biol (2012) 1.24
Intraflagellar transport complex structure and cargo interactions. Cilia (2013) 1.20
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. Am J Hum Genet (2013) 1.20
Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation. J Am Soc Nephrol (2012) 1.16
Subunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteins. J Biol Chem (2011) 1.11
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
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nat Med (2012) 1.05
A systems-biology approach to understanding the ciliopathy disorders. Genome Med (2011) 1.04
Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies. Hum Mol Genet (2012) 1.00
WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia. Am J Hum Genet (2013) 0.99
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am J Hum Genet (2013) 0.95
The emerging face of primary cilia. Genesis (2011) 0.94
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses. Curr Genet Med Rep (2014) 0.91
The primary cilium in different tissues-lessons from patients and animal models. Pediatr Nephrol (2010) 0.91
Educational paper: ciliopathies. Eur J Pediatr (2011) 0.90
The kinesin superfamily protein KIF17: one protein with many functions. Biomol Concepts (2012) 0.89
Nephronophthisis and related syndromes. Curr Opin Pediatr (2015) 0.89
Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet (2015) 0.88
A chemical screen identifies class a g-protein coupled receptors as regulators of cilia. ACS Chem Biol (2012) 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
IFT proteins accumulate during cell division and localize to the cleavage furrow in Chlamydomonas. PLoS One (2012) 0.86
Primary cilia integrate hedgehog and Wnt signaling during tooth development. J Dent Res (2014) 0.84
WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype. Am J Med Genet A (2012) 0.83
Smelling the roses and seeing the light: gene therapy for ciliopathies. Trends Biotechnol (2013) 0.82
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium. Hum Mol 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
Axonemal positioning and orientation in three-dimensional space for primary cilia: what is known, what is assumed, and what needs clarification. Dev Dyn (2011) 0.80
The ciliopathy gene Rpgrip1l is essential for hair follicle development. J Invest Dermatol (2014) 0.78
Cilia/Ift protein and motor -related bone diseases and mouse models. Front Biosci (Landmark Ed) (2015) 0.78
The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1. Pediatr Nephrol (2013) 0.78
Probing the role of IFT particle complex A and B in flagellar entry and exit of IFT-dynein in Chlamydomonas. Protoplasma (2011) 0.78
Primary Cilia and Mammalian Hedgehog Signaling. Cold Spring Harb Perspect Biol (2016) 0.78
Common skeletal features in rare diseases: New links between ciliopathies and FGF-related syndromes. Rare Dis (2013) 0.77
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. Mol Genet Genomic Med (2013) 0.77
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Hum Mol Genet (2016) 0.77
Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis. Plast Reconstr Surg (2016) 0.76
Canonical and noncanonical intraflagellar transport regulates craniofacial skeletal development. Proc Natl Acad Sci U S A (2016) 0.76
Epidermal polarity genes in health and disease. Cold Spring Harb Perspect Med (2014) 0.76
Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia (2017) 0.75
Loss of ift122, a Retrograde Intraflagellar Transport (IFT) Complex Component, Leads to Slow, Progressive Photoreceptor Degeneration Due to Inefficient Opsin Transport. J Biol Chem (2016) 0.75
Functional exploration of the IFT-A complex in intraflagellar transport and ciliogenesis. PLoS Genet (2017) 0.75
A tissue-specific role for intraflagellar transport genes during craniofacial development. PLoS One (2017) 0.75
Role of Primary Cilia in Odontogenesis. J Dent Res (2017) 0.75
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16
The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet (2006) 9.56
Structural basis for phosphodependent substrate selection and orientation by the SCFCdc4 ubiquitin ligase. Cell (2003) 5.72
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
Cilia and developmental signaling. Annu Rev Cell Dev Biol (2007) 4.88
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
Intraflagellar transport (IFT) role in ciliary assembly, resorption and signalling. Curr Top Dev Biol (2008) 4.10
THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. Nat Genet (2008) 3.19
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nat Genet (2007) 2.98
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya. Nat Genet (2006) 1.76
Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet (2009) 1.59
The Oak Ridge Polycystic Kidney mouse: modeling ciliopathies of mice and men. Dev Dyn (2008) 1.36
An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J Clin Invest (2005) 1.29
Hedgehog signalling is required for maintenance of myf5 and myoD expression and timely terminal differentiation in zebrafish adaxial myogenesis. Dev Biol (2001) 1.28
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. Hum Genet (2005) 1.25
Restoration of renal function in zebrafish models of ciliopathies. Pediatr Nephrol (2008) 1.15
Tetrahymena IFT122A is not essential for cilia assembly but plays a role in returning IFT proteins from the ciliary tip to the cell body. J Cell Sci (2008) 1.08
Cranioectodermal dysplasia: a probable ciliopathy. Am J Med Genet A (2009) 1.01
Connective tissue involvement in two patients with features of cranioectodermal dysplasia. Am J Med Genet A (2009) 0.93
Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family. Am J Med Genet A (2006) 0.90
A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia. Br J Ophthalmol (1996) 0.86
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
The Oxford classification of IgA nephropathy: rationale, clinicopathological correlations, and classification. Kidney Int (2009) 7.45
The Oxford classification of IgA nephropathy: pathology definitions, correlations, and reproducibility. Kidney Int (2009) 7.19
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
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Hum Mol Genet (2007) 5.28
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
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
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nat Genet (2007) 4.24
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
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Characterization of a recurrent 15q24 microdeletion syndrome. Hum Mol Genet (2007) 3.54
Validation of the Oxford classification of IgA nephropathy in cohorts with different presentations and treatments. Kidney Int (2014) 3.40
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nat Genet (2009) 3.36
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes Dev (2004) 3.21
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
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99
Ciliopathies: an expanding disease spectrum. Pediatr Nephrol (2011) 2.95
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature (2005) 2.90
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nat Genet (2004) 2.84
Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet (2007) 2.81
Mapping translocation breakpoints by next-generation sequencing. Genome Res (2008) 2.73
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nat Genet (2004) 2.64
COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. J Am Soc Nephrol (2007) 2.52
Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet (2005) 2.40
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet (2007) 2.22
Growth hormone treatment started in the first year of life in infants with chronic renal failure. Pediatr Nephrol (2009) 2.21
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
Bardet-Biedl syndrome. Eur J Hum Genet (2012) 2.15
The Oxford IgA nephropathy clinicopathological classification is valid for children as well as adults. Kidney Int (2010) 2.14
Bardet-Biedl syndrome: beyond the cilium. Pediatr Nephrol (2007) 2.14
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet (2007) 2.13
Somatic mutation profiles of MSI and MSS colorectal cancer identified by whole exome next generation sequencing and bioinformatics analysis. PLoS One (2010) 2.10
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet (2003) 2.03
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Am J Med Genet A (2005) 2.03
Umbilical cord clamping at birth--practice in Norwegian maternity wards. Tidsskr Nor Laegeforen (2013) 1.99
Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain (2008) 1.94
The nonmotile ciliopathies. Genet Med (2009) 1.91
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
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. Am J Hum Genet (2010) 1.87
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A (2007) 1.80
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet (2012) 1.78
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proc Natl Acad Sci U S A (2008) 1.78
Eculizumab for the treatment of dense-deposit disease. N Engl J Med (2012) 1.76
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
Preemptive liver transplantation in a child with familial hypercholesterolemia. Pediatr Transplant (2010) 1.71
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet (2008) 1.70
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat (2010) 1.67
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet (2006) 1.66
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet (2012) 1.64
Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet (2012) 1.63
The face signature of fibrodysplasia ossificans progressiva. Am J Med Genet A (2012) 1.62
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nat Genet (2009) 1.59
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.58
Modeling ciliopathies: Primary cilia in development and disease. Curr Top Dev Biol (2008) 1.57
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet (2007) 1.56
Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: a role for MC1R in human fetal development. J Invest Dermatol (2012) 1.56
High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A (2009) 1.55
Cohen syndrome diagnosis using whole genome arrays. J Med Genet (2010) 1.55
Short-term survival of hyperammonemic neonates treated with dialysis. Pediatr Nephrol (2014) 1.54
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet (2006) 1.51
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening. Eur J Hum Genet (2012) 1.51
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet (2013) 1.51
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J (2010) 1.50
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet (2010) 1.49