P. Beales

P. Beales, A. Woolf, E. Maher, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype

S. Scherer, J. Malvehy, S. Puig, 2019, bioRxiv.

Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons

M. Häusser, S. Wells, C. Schmidt-Hieber, 2019, bioRxiv.

Genes and Mechanisms in Human Ciliopathies

P. Beales, D. Jenkins, 2013 .

The nonmotile ciliopathies

P. Beales, J. Tobin, 2009, Genetics in Medicine.

Chapter 5 Modeling Ciliopathies

P. Beales, J. Tobin, R. Quinlan, 2008 .

Intellectual disability, unusual facial morphology and hand anomalies in sibs

R. Hennekam, P. Beales, G. Moore, 2013, American journal of medical genetics. Part A.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Colin A. Johnson, Nancy F. Hansen, R. Gibbs, 2011, Nature Genetics.

Loss of FTO Antagonises Wnt Signaling and Leads to Developmental Defects Associated with Ciliopathies

R. Cox, D. Stemple, I. Barroso, 2014, PloS one.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

defects and compromised intraflagellar transport BBS-7 and BBS-8 protein function results in cilia

S. R. Wicks, N. Katsanis, J. Badano, 2007 .

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

R. Hennekam, P. Beales, G. Moore, 2014, American journal of medical genetics. Part A.

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

A. Munnich, R. Hennekam, N. Katsanis, 2011, Nature Genetics.

Bardet–Biedl and Jeune Syndromes

P. Beales, A. Waters, 2010 .

Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families

P. Beales, G. Matthijs, S. Mohammed, 2002, Journal of medical genetics.

Abnormalities of the Central Nervous System Across the Ciliopathy Spectrum

P. Beales, K. Baker, 2013 .

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

M. Ryten, R. Scott, P. Beales, 2013, Nature Genetics.

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

Bethan E. Hoskins, Nicholas Katsanis, J. Lupski, 2004, Nature Genetics.

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

Bethan E. Hoskins, J. Lupski, P. Scambler, 2003, American journal of human genetics.

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

P. Beales, A. Woolf, F. Flinter, 1999, Journal of medical genetics.

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

M. Bitner-Glindzicz, H. Williams, J. Hurst, 2018, Journal of Medical Genetics.

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

P. Beales, C. Bacchelli, P. Munot, 2019, Human Genome Variation.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

M. Hubank, P. Beales, M. Schmidts, 2017, European journal of medical genetics.

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

M. Brown, M. Marshall, P. Scambler, 2013, American journal of human genetics.

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

R. Hennekam, A. Latos-Bieleńska, H. Ropers, 2010, American journal of human genetics.

Making sense of cilia in disease: The human ciliopathies

Kate Baker, P. Beales, K. Baker, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

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

P. Beales, Philip L Beales, 2005, Current opinion in genetics & development.

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

S. Jacobson, A. D. den Hollander, A. Swaroop, 2012, The Journal of clinical investigation.

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

R. Lewis, N. Katsanis, J. Badano, 2008, Nature Genetics.

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

N. Katsanis, J. Badano, C. C. Leitch, 2005, Journal of Cell Science.

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

Tanya M. Teslovich, Stephen J. Ansley, Bethan E. Hoskins, 2003, Nature.

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

Bethan E. Hoskins, D. Cutler, R. Lewis, 2003, Human molecular genetics.

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

J. Lupski, P. Scambler, R. Lewis, 2002, American journal of human genetics.

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

J. Lupski, M. Justice, S. Wu, 2006, Human Genetics.

Toward personalized medicine in Bardet-Biedl syndrome.

P. Beales, C. Bacchelli, J. Kenny, 2017, Personalized medicine.

Towards Personalised Medicine in Bardet-Biedl Syndrome

P. Beales, C. Bacchelli, J. Kenny, 2017 .

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

Colin A. Johnson, Michael A. Beer, R. Gibbs, 2009, Nature Genetics.

The Bardet-Biedl and Alstrom Syndromes

N. Katsanis, P. Beales, P. Parfrey, 2003 .

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

Richard A. Lewis, Stephen J. Ansley, William S. Davidson, 2000, Nature Genetics.

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

Yanli Fan, P. Beales, P. Parfrey, 2004, Human Genetics.

Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy

I. V. van Rooij, E. Bongers, R. Roepman, 2018, Pediatric Nephrology.

Dental Anomalies in Ciliopathies: Lessons from Patients with BBS2, BBS7, and EVC2 Mutations

K. Katanyuwong, P. Beales, S. Tongsima, 2022, Genes.

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

J. Badano, P. Beales, M. Graña, 2012, Human Genetics.

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

N. Katsanis, T. Hurd, P. Beales, 2010, Human Genetics.

Bardet-biedl syndrome: New insights into ciliopathies and oligogenic traits

P. Beales, H. Dollfus, Elias Nicholas Katsanis, 2007 .

Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study

B. Fernandez, N. Katsanis, Yanli Fan, 2005, American journal of medical genetics. Part A.

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

Keith A. Boroevich, R. Lewis, N. Katsanis, 2004, Nature Genetics.

Behavioural phenotype of Bardet-Biedl syndrome

P. Beales, T. Charman, S. Reilly, 2002, Journal of medical genetics.

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

J. Lupski, S. Fisher, D. Jagger, 2005, Nature Genetics.

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

P. Beales, D. Mukherjee, R. C. Aguilar, 2012, Human molecular genetics.

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

P. Scambler, P. Beales, S. Rix, 2011, Human molecular genetics.

Basal body stability and ciliogenesis requires the conserved component Poc1

P. Beales, T. Giddings, C. Pearson, 2009, The Journal of cell biology.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Seneca L. Bessling, A. McCallion, A. Munnich, 2009, Proceedings of the National Academy of Sciences.

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

S. R. Wicks, R. Plasterk, N. Katsanis, 2004, Genes & development.

University of Huddersfield Repository Mutations in multidomain protein MEGF8 identify a Carpenter syndrome subtype associated with defective lateralization identify

S. Knight, P. Beales, B. Keavney, 2022 .

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

H. Peeters, M. Bitner-Glindzicz, R. Hennekam, 2011, Nature Genetics.

Regulation of neuroblast competence in Drosophila

Tanya M. Teslovich, R. Lewis, N. Katsanis, 2022 .

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

C. Östenson, P. Beales, P. Berggren, 2014, Nature Communications.

Publisher Correction: Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression

Davis J. McCarthy, Shane A. McCarthy, R. Durbin, 2020, Nature Communications.

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

Richard D Emes, J. Lafitte, P. Beales, 2014, Human molecular genetics.

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

F. Alkuraya, P. Beales, M. Schmidts, 2014, Human molecular genetics.

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

N. Katsanis, J. Badano, P. Beales, 2013, Human molecular genetics.

of papers presented at the fourteenth Genetics Society’s Mammalian Genetics and Development Workshop held at the Institute of Child Health, University College London on 3 and 4 2003

Bethan E. Hoskins, N. Katsanis, P. Keightley, 2004 .

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

Colin A. Johnson, M. Hubank, E. Stupka, 2015, Journal of Medical Genetics.

Clinical molecular endocrinology : Obesity genes

P. Beales, P. Kopelman, 1996 .

Contents

H. May-Simera, P. Beales, Z. Kozmík, 2016, Mechanisms of Development.

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

S. Fisher, N. Katsanis, J. Badano, 2007, Nature Genetics.

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

A. Gnanasakthy, P. Beales, H. Dollfus, 2023, Orphanet Journal of Rare Diseases.

COLEC10 is mutated in 3MC patients and regulates early craniofacial development

P. Beales, D. Jenkins, J. Morton, 2017, PLoS genetics.

An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1)

P. Beales, U. Holmskov, K. Skjødt, 2012, Journal of immunological methods.

Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet–Biedl syndrome

T. Baldeweg, P. Beales, K. Baker, 2011, American journal of medical genetics. Part A.

Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a Proven BBS1 Mutation

I. C. Lloyd, J. Clayton-Smith, P. Beales, 2008, Ophthalmic genetics.

Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation

C. Thompson, M. Knight, P. Beales, 2021, International journal of molecular sciences.

Obesity genes

P. Beales, P. Kopelman, P G Kopelman, 1996, Clinical endocrinology.

ODP606 Long-term Efficacy of Setmelanotide in Patients With Bardet-Biedl Syndrome

K. Clément, P. Beales, H. Dollfus, 2022, Journal of the Endocrine Society.

Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells

F. Watt, P. Beales, I. Lieberam, 2023, Frontiers in Cell and Developmental Biology.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance

P. Beales, V. Niederlova, A. Drobek, 2021, EMBO reports.

Role of Centriolar Proteins in Skeletal Ciliopathies

S. Arabia, F. Alkuraya, P. Beales, 2014 .

Altered hematopoietic system and self-tolerance in Bardet-Biedl Syndrome

P. Beales, V. Niederlova, A. Drobek, 2020, bioRxiv.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

I. Thiffault, G. Pazour, B. Tüysüz, 2023, PLoS genetics.

IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans

I. Thiffault, G. Pazour, B. Tüysüz, 2023, medRxiv.

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

N. Katsanis, M. Caterina, F. Rice, 2007, Proceedings of the National Academy of Sciences.

Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation

C. Thompson, P. Beales, H. Mitchison, 2019, Osteoarthritis and cartilage.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

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

J. Badano, P. Beales, M. Graña, 2012, Human Genetics.

Identification and validation of loss of function variants in clinical contexts

P. Beales, F. Lescai, C. Bacchelli, 2014, Molecular genetics & genomic medicine.

Ciliopathies: an expanding disease spectrum

P. Beales, A. Waters, 2011, Pediatric Nephrology.

Clinical utility gene card for: Bardet–Biedl syndrome

P. Beales, A. Slavotinek, 2011, European Journal of Human Genetics.

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

R. Hennekam, A. Latos-Bieleńska, H. Ropers, 2022 .

Hedgehogs on the road to polarity

P. Beales, 2006, Nature Genetics.

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

R. Lewis, N. Katsanis, C. C. Leitch, 2008, Nature Genetics.

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

N. Katsanis, T. Hurd, P. Beales, 2010, Human Genetics.

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

P. Beales, Jing Zhou, Maoqing Wu, 2014, Human molecular genetics.

Making sense of cilia in disease: The human ciliopathies

P. Beales, K. Baker, 2009, American journal of medical genetics. Part C, Seminars in medical genetics.

Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum

Bethan E. Hoskins, R. Roepman, E. van Wijk, 2016, Scientific Reports.

Exome sequencing for the differential diagnosis of ciliary chondrodysplasias: Example of a WDR35 mutation case and review of the literature.

M. Hubank, P. Beales, M. Schmidts, 2017, European journal of medical genetics.

Bardet–Biedl syndrome

P. Beales, E. Forsythe, 2012, European Journal of Human Genetics.

An FDA-Approved Drug Screen for Compounds Influencing Craniofacial Skeletal Development and Craniosynostosis

P. Scambler, P. Beales, D. Jenkins, 2018, Molecular Syndromology.

The use of whole-exome sequencing to disentangle complex phenotypes

H. Williams, P. Beales, F. Lescai, 2015, European Journal of Human Genetics.