Philip L. Beales

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression.

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval.

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome.

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

Hedgehogs on the road to polarity.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Bardet-Biedl syndrome: beyond the cilium.

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response.

Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

Genetic obesity syndromes.

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.

Restoration of renal function in zebrafish models of ciliopathies.

Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.

How to shape cells and influence polarized protein trafficking.

Modeling ciliopathies: Primary cilia in development and disease.

Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions.

The nonmotile ciliopathies.

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Making sense of cilia in disease: the human ciliopathies.

Basal body stability and ciliogenesis requires the conserved component Poc1.

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.

Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish.

Obesity in single gene disorders.

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

Ciliopathies: an expanding disease spectrum.

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Bardet-Biedl syndrome.

Heat shock induces rapid resorption of primary cilia.

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.

Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization.

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.

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

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome.

Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization.

The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60.

Intellectual disability, unusual facial morphology and hand anomalies in sibs.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans.

Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy.

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.

Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters.

Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies.

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.