Philip L. Beales

Genetics and Genomic Medicine, University College London

Affiliated withUniversity College London

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 29	2015

Other Publications

Article	Year
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. American journal of human genetics\| PubMed ID: 12016587	2002
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. American journal of human genetics\| PubMed ID: 12677556	2003
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Human molecular genetics\| PubMed ID: 12837689	2003
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. Human mutation\| PubMed ID: 12872256	2003
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature\| PubMed ID: 14520415	2003
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nature genetics\| PubMed ID: 15107855	2004
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell\| PubMed ID: 15137946	2004
Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport. Genes & development\| PubMed ID: 15231740	2004
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome. Nature genetics\| PubMed ID: 15314642	2004
Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. Nature genetics\| PubMed ID: 15322545	2004
Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet-Biedl syndrome 1 critical interval. Human genetics\| PubMed ID: 15517396	2005
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. American journal of medical genetics. Part A\| PubMed ID: 15637713	2005
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis. Journal of cell science\| PubMed ID: 15731008	2005
Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Current opinion in genetics & development\| PubMed ID: 15917208	2005
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nature genetics\| PubMed ID: 16170314	2005
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature\| PubMed ID: 16327777	2006
Hedgehogs on the road to polarity. Nature genetics\| PubMed ID: 16501556	2006
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nature genetics\| PubMed ID: 16582908	2006
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity. Human genetics\| PubMed ID: 16794820	2006
Bardet-Biedl syndrome: beyond the cilium. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 17357787	2007
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy. Nature genetics\| PubMed ID: 17468754	2007
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nature genetics\| PubMed ID: 17906624	2007
Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 17959775	2007
Genetic obesity syndromes. Frontiers of hormone research\| PubMed ID: 18230893	2008
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature genetics\| PubMed ID: 18327255	2008
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 18443298	2008
Restoration of renal function in zebrafish models of ciliopathies. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 18604564	2008
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. Ophthalmic genetics\| PubMed ID: 18766993	2008
How to shape cells and influence polarized protein trafficking. Developmental cell\| PubMed ID: 19081069	2008
Modeling ciliopathies: Primary cilia in development and disease. Current topics in developmental biology\| PubMed ID: 19186246	2008
Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions. The Journal of comparative neurology\| PubMed ID: 19396898	2009
The nonmotile ciliopathies. Genetics in medicine : official journal of the American College of Medical Genetics\| PubMed ID: 19421068	2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. Nature genetics\| PubMed ID: 19430481	2009
Making sense of cilia in disease: the human ciliopathies. American journal of medical genetics. Part C, Seminars in medical genetics\| PubMed ID: 19876933	2009
Basal body stability and ciliogenesis requires the conserved component Poc1. The Journal of cell biology\| PubMed ID: 20008567	2009
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene. American journal of human genetics\| PubMed ID: 20493458	2010
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. Developmental biology\| PubMed ID: 20643117	2010
Obesity in single gene disorders. Progress in molecular biology and translational science\| PubMed ID: 21036324	2010
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Human genetics\| PubMed ID: 21052717	2011
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and AlstrÃ¶m syndrome. European journal of human genetics : EJHG\| PubMed ID: 21157496	2011
Ciliopathies: an expanding disease spectrum. Pediatric nephrology (Berlin, Germany)\| PubMed ID: 21210154	2011
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia. Human molecular genetics\| PubMed ID: 21227999	2011
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature genetics\| PubMed ID: 21258341	2011
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. Nature genetics\| PubMed ID: 21258343	2011
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nature genetics\| PubMed ID: 21552264	2011
The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Human molecular genetics\| PubMed ID: 22228094	2012
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nature genetics\| PubMed ID: 22387996	2012
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. The Journal of clinical investigation\| PubMed ID: 22446187	2012
Bardet-Biedl syndrome. European journal of human genetics : EJHG\| PubMed ID: 22713813	2013
Heat shock induces rapid resorption of primary cilia. Journal of cell science\| PubMed ID: 22718348	2012
Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model. Nature medicine\| PubMed ID: 22941275	2012
Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome. Human genetics\| PubMed ID: 23015189	2013
Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization. American journal of human genetics\| PubMed ID: 23063620	2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. Journal of medical genetics\| PubMed ID: 23125460	2012
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. Human mutation\| PubMed ID: 23418020	2013
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. Journal of medical genetics\| PubMed ID: 23456818	2013
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Disease models & mechanisms\| PubMed ID: 23471908	2013
Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. Human molecular genetics\| PubMed ID: 23716571	2013
The Bardet-Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex. Human molecular genetics\| PubMed ID: 23727834	2013
Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. American journal of human genetics\| PubMed ID: 23910462	2013
Intellectual disability, unusual facial morphology and hand anomalies in sibs. American journal of medical genetics. Part A\| PubMed ID: 23949889	2013
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain : a journal of neurology\| PubMed ID: 24022475	2013
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans. American journal of human genetics\| PubMed ID: 24140113	2013
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy. American journal of human genetics\| PubMed ID: 24183451	2013
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. Journal of medical genetics\| PubMed ID: 24203976	2014
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome. Nature genetics\| PubMed ID: 24241535	2014
Development of an automated imaging pipeline for the analysis of the zebrafish larval kidney. PloS one\| PubMed ID: 24324758	2013
Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Human molecular genetics\| PubMed ID: 24412933	2014
Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters. American journal of medical genetics. Part A\| PubMed ID: 24501761	2014
Loss of FTO antagonises Wnt signaling and leads to developmental defects associated with ciliopathies. PloS one\| PubMed ID: 24503721	2014
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. Human molecular genetics\| PubMed ID: 24518672	2014
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Human molecular genetics\| PubMed ID: 24939912	2014
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. Retina (Philadelphia, Pa.)\| PubMed ID: 25170860	2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Human molecular genetics\| PubMed ID: 25361962	2015
Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents. Nature communications\| PubMed ID: 25374274	2014
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Journal of medical genetics\| PubMed ID: 25564561	2015