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Author Details

Philip L Beales
UCL Great Ormond Street Institute of Child Health, University College London
1994
151
62
PMIDPaper TitleJournal TitlePublished Year
37856026Affinity Purification of Intraflagellar Transport (IFT) Proteins in Mice Using Endogenous Streptavidin/FLAG Tags.Methods Mol Biol2024
36865301<i>IFT74</i> variants cause skeletal ciliopathy and motile cilia defects in mice and humans.medRxiv2023
37998397De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of <i>Bbs1</i>.Cells2023
37315079IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.PLoS Genet2023
37333983Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.Front Cell Dev Biol2023
36647077Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results.Orphanet J Rare Dis2023
36672825Dental Anomalies in Ciliopathies: Lessons from Patients with <i>BBS2</i>, <i>BBS7,</i> and <i>EVC2</i> Mutations.Genes (Basel)2022
33426789Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance.EMBO Rep2021
33795320Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia.Eur Respir J2021
33919210Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation.Int J Mol Sci2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
30976283An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis.Mol Syndromol2019
31645973Novel missense variants in the <i>RNF213</i> gene from a European family with Moyamoya disease.Hum Genome Var2019
31593567Correction: Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.PLoS Biol2019
31479441Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons.PLoS Biol2019
30922983Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation.Osteoarthritis Cartilage2019
31095607CiliaCarta: An integrated and validated compendium of ciliary genes.PLoS One2019
29487844Managing Bardet-Biedl Syndrome-Now and in the Future.Front Pediatr2018
29974258Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.Pediatr Nephrol2018
30049826Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.J Med Genet2018
29988398CD19<sup>+</sup>CD24<sup>hi</sup>CD38<sup>hi</sup> B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α.Front Immunol2018
29868523The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.Front Pediatr2018
29409041The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population.J Clin Endocrinol Metab2018
27522155Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.J Allergy Clin Immunol2017
28489815Common genetic variation drives molecular heterogeneity in human iPSCs.Nature2017
28301481COLEC10 is mutated in 3MC patients and regulates early craniofacial development.PLoS Genet2017
28132690Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.Am J Hum Genet2017
29754569Toward personalized medicine in Bardet-Biedl syndrome.Per Med2017
28614302Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCs.Nature2017
28870638Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.Eur J Med Genet2017
28929469Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling.Eur Cell Mater2017
27659767Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.J Am Soc Nephrol2017
27743390Novel G6B gene variant causes familial autosomal recessive thrombocytopenia and anemia.Eur J Haematol2017
27302973Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.J Crohns Colitis2017
27350171Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss-of-function vs missense variants.Clin Genet2017
26059842The use of whole-exome sequencing to disentangle complex phenotypes.Eur J Hum Genet2016
27708425Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.Sci Rep2016
27124303Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.PLoS One2016
27173435An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.Nat Commun2016
26825015Non-essential role for cilia in coordinating precise alignment of lens fibres.Mech Dev2016
27005418Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.Hum Mol Genet2016
27021811Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Nat Commun2016
24611735Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.Clin Genet2015
26044572TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.Nat Commun2015
26167768An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.Nat Cell Biol2015
25742415Evaluation of zebrafish kidney function using a fluorescent clearance assay.J Vis Exp2015
25573457Erratum to: Adjustable gastric banding and sleeve gastrectomy in Bardet-Biedl syndrome.Obes Surg2015
25564561The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.J Med Genet2015
25317630Bardet Biedl syndrome: motile ciliary phenotype.Chest2015
25361962A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Hum Mol Genet2015
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