Citation Impact
Citing Papers
STAR: ultrafast universal RNA-seq aligner
2012 Standout
The Talpid3 gene ( KIAA0586 ) encodes a centrosomal protein that is essential for primary cilia formation
2009
Functional dissection of Rab GTPases involved in primary cilium formation
2007
Ror2 signaling regulates Golgi structure and transport through IFT20 for tumor invasiveness
2017 Standout
Bardet-Biedl Syndrome-associated Small GTPase ARL6 (BBS3) Functions at or near the Ciliary Gate and Modulates Wnt Signaling
2010
Treatment of kidney cancer
2009 StandoutNobel
The Joubert Syndrome-associated Missense Mutation (V443D) in the Abelson-helper Integration Site 1 (AHI1) Protein Alters Its Localization and Protein-Protein Interactions
2013
Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone
2015
Revisiting Mendelian disorders through exome sequencing
2011
Analysis of protein sequence and interaction data for candidate disease gene prediction
2006
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
2007
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
2009
Microbial etiological agents of destructive periodontal diseases
1994 Standout
The mechanisms of Hedgehog signalling and its roles in development and disease
2013 Standout
Role of Primary Cilia in the Pathogenesis of Polycystic Kidney Disease
2007
The von Hippel–Lindau tumour suppressor protein: O2 sensing and cancer
2008 StandoutNobel
RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity
2007
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein
2010
STED Microscopy with Optimized Labeling Density Reveals 9-Fold Arrangement of a Centriole Protein
2012 StandoutNobel
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
2008
Role of platelet-derived growth factors in physiology and medicine
2008 Standout
Assembly of primary cilia
2008
Systematic antibody responses to oral microorganisms in the cynomolgus monkey: development of methodology and longitudinal responses during ligature-induced disease
1991
Investigation of Mendelian forms of obesity holds out the prospect of personalized medicine
2010
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
2020 Standout
STRING v10: protein–protein interaction networks, integrated over the tree of life
2014 Standout
The primary cilium as a cellular signaling center: lessons from disease
2009
Clinical practice guidelines for the perioperative nutritional, metabolic, and nonsurgical support of the bariatric surgery patient—2013 update: Cosponsored by american association of clinical endocrinologists, The obesity society, and american society for metabolic & bariatric surgery*
2013 Standout
Arrestin Development: Emerging Roles for β-arrestins in Developmental Signaling Pathways
2009 StandoutNobel
Ofd1, a Human Disease Gene, Regulates the Length and Distal Structure of Centrioles
2010
Rab GTPases as coordinators of vesicle traffic
2009 Standout
Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells
2008
Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking
2009
Population Genomic Analysis of ALMS1 in Humans Reveals a Surprisingly Complex Evolutionary History
2009
Mechanically Activated Ion Channels
2015 StandoutNobel
The Vertebrate Primary Cilium in Development, Homeostasis, and Disease
2009
STED super-resolution microscopy in Drosophila tissue and in mammalian cells
2011 StandoutNobel
Aberrant splicing is a common mutational mechanism inMKS1, a key player in Meckel-Gruber syndrome
2007
Wnt/β-Catenin Signaling: Components, Mechanisms, and Diseases
2009 Standout
Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway
2010
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report
2008 Standout
Unraveling the therapeutic potential of the Hedgehog pathway in cancer
2013 Standout
Leber congenital amaurosis: Genes, proteins and disease mechanisms
2008 Standout
Mutation of the Mg2+ Transporter SLC41A1 Results in a Nephronophthisis-Like Phenotype
2013
The Glymphatic System: A Beginner’s Guide
2015 Standout
Adult Neurogenesis in the Mammalian Brain: Significant Answers and Significant Questions
2011 Standout
A molecular characterization of the choroid plexus and stress-induced gene regulation
2012
HISAT: a fast spliced aligner with low memory requirements
2015 Standout
Fluorescence nanoscopy in cell biology
2017 StandoutNobel
Adeno-associated virus vector as a platform for gene therapy delivery
2019 Standout
Sporadic clear cell renal cell carcinoma but not the papillary type is characterized by severely reduced frequency of primary cilia
2008
A Splice-Site Mutation in a Retina-Specific Exon of BBS8 Causes Nonsyndromic Retinitis Pigmentosa
2010
Mutation in CEP290 Discovered for Cat Model of Human Retinal Degeneration
2007
Phenome connections
2008
Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
2009
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin
2009
The Meckel–Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
2006
Trafficking in and to the primary cilium
2012
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
2012 Standout
Intraflagellar transport and the generation of dynamic, structurally and functionally diverse cilia
2009
Hedgehog Signaling in Development and Cancer
2008 Standout
Wnt Signaling in Polycystic Kidney Disease
2007
Cell regulation: determined to signal discrete cooperation
2009
The role of primary cilia in neuronal function
2010
The Genetics of Human Adaptation: Hard Sweeps, Soft Sweeps, and Polygenic Adaptation
2010 Standout
The primary cilium: a signalling centre during vertebrate development
2010 Standout
Type III adenylyl cyclase localizes to primary cilia throughout the adult mouse brain
2007
The Zn Finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis
2009
Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse
2009
ToppGene Suite for gene list enrichment analysis and candidate gene prioritization
2009 Standout
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
2007
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
2008
Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis
2017
TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions
2013 Standout
Magnesium in Man: Implications for Health and Disease
2014 Standout
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms
2010
Centriole/basal body morphogenesis and migration during ciliogenesis in animal cells
2006
Planar Cell Polarity Signaling: From Fly Development to Human Disease
2008
Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons
2007
Cep97 and CP110 Suppress a Cilia Assembly Program
2007
The Glial Nature of Embryonic and Adult Neural Stem Cells
2009 Standout
Making sense of cilia in disease: The human ciliopathies
2009
Classification of Intrinsically Disordered Regions and Proteins
2014 Standout
Cilia and Developmental Signaling
2007
Bardet–Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
2008
The WD Repeat-containing Protein IFTA-1 Is Required for Retrograde Intraflagellar Transport
2006
Cep164, a novel centriole appendage protein required for primary cilium formation
2007
Cby1 promotes Ahi1 recruitment to a ring-shaped domain at the centriole–cilium interface and facilitates proper cilium formation and function
2014 StandoutNobel
Renal Control of Calcium, Phosphate, and Magnesium Homeostasis
2014 Standout
Satellite Cells and the Muscle Stem Cell Niche
2013 Standout
Inactivation of Chibby affects function of motile airway cilia
2009
Polycystin-2 and phosphodiesterase 4C are components of a ciliary A-kinase anchoring protein complex that is disrupted in cystic kidney diseases
2011
Comparative analysis of RNA-Seq alignment algorithms and the RNA-Seq unified mapper (RUM)
2011
Human genetics illuminates the paths to metabolic disease
2009 Nature
Genes and mutations causing retinitis pigmentosa
2013 Standout
Works of Phil Beales being referenced
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping
2009
The Ciliopathies: An Emerging Class of Human Genetic Disorders
2006
Normalization of the CD4/CD8 lymphocyte ratio and increased B lymphocytes in long standing diabetic patients following therapy with thymopentin.
1987