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Genetics

D-Index
84
Citations
26665
World Ranking
1361
National Ranking
177

Overview

Philip L. Beales is affiliated with University College London in the United Kingdom. Their research focuses primarily on Biochemistry, Genetics, and Molecular Biology, contributing to various subfields including Genetics, Molecular Biology, Pulmonary and Respiratory Medicine, Cancer Research, and Spectroscopy.

Key topics addressed in their work include:

  • Genetic and Kidney Cyst Diseases
  • Genetic Syndromes and Imprinting
  • Hedgehog Signaling Pathway Studies
  • Protist diversity and phylogeny
  • Renal and related cancers
  • CRISPR and Genetic Engineering
  • Cancer Genomics and Diagnostics

Their recent publications demonstrate a focus on genetic effects, rare diseases, and proteome variation. These papers include:

  • "Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression," 2020, Nature Communications
  • "Population-scale proteome variation in human induced pluripotent stem cells," 2020, eLife
  • "Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance," 2021, EMBO Reports
  • "Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results," 2023, Orphanet Journal of Rare Diseases
  • "Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia," 2021, European Respiratory Journal

The venues that frequently publish their work include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Communications
  • eLife
  • Orphanet Journal of Rare Diseases
  • EMBO Reports

Philip L. Beales collaborates regularly with several co-authors who have contributed to multiple publications together. Frequent collaborators include Elizabeth Forsythe, Hélène Dollfus, Andrea M. Haqq, Jesús Argente, and Avishek Prasai.

Best Publications

  • The Ciliopathies: An Emerging Class of Human Genetic Disorders

    Jose L. Badano;Norimasa Mitsuma;Phil L. Beales;Nicholas Katsanis

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

    P L Beales;N Elcioglu;A S Woolf;D Parker

  • Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene

    Jin Billy Li;Jantje M Gerdes;Courtney J Haycraft;Yanli Fan

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

    Stephen J. Ansley;Jose L. Badano;Oliver E. Blacque;Josephine Hill

  • Ciliopathies: an expanding disease spectrum

    Aoife M. Waters;Philip L. Beales

  • Bardet-Biedl syndrome

    Elizabeth Forsythe;Philip L Beales

  • Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

    Nicholas Katsanis;Stephen J. Ansley;Jose L. Badano;Erica R. Eichers

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

    Alison J Ross;Helen May-Simera;Erica R Eichers;Masatake Kai

  • Common genetic variation drives molecular heterogeneity in human iPSCs

    Helena Kilpinen;Angela Goncalves;Andreas Leha;Vackar Afzal

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

    Jantje M Gerdes;Yangfan Liu;Norann A Zaghloul;Carmen C Leitch

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

    Jun Chul Kim;Jose L Badano;Sonja Sibold;Muneer A Esmail

  • Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

    Edgar A. Otto;Bart Loeys;Hemant Khanna;Jan Hellemans

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

    Carmen C Leitch;Norann A Zaghloul;Erica E Davis;Corinne Stoetzel

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

    Oliver E. Blacque;Michael J. Reardon;Chunmei Li;Jonathan McCarthy

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

    Heather M Kulaga;Carmen C Leitch;Erica R Eichers;Jose L Badano

  • Making sense of cilia in disease: the human ciliopathies.

    Kate Baker;Philip L. Beales

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

    Erica E. Davis;Qi Zhang;Qin Liu;Bill H. Diplas

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

    Miriam Schmidts;Yuqing Hou;Claudio R. Cortes;Dorus A. Mans

  • Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

    N Katsanis;SJ Ansley;JL Badano;ER Eichers

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

    A Ross;H May-Simera;E Eichers;M Kai

Frequent Co-Authors

Nicholas Katsanis
Nicholas Katsanis Galatea Bio Inc
Peter J. Scambler
Peter J. Scambler University College London
Hannah M. Mitchison
Hannah M. Mitchison University College London
Richard A. Lewis
Richard A. Lewis Baylor College of Medicine
Erica E. Davis
Erica E. Davis Lurie Children's Hospital
James R. Lupski
James R. Lupski Baylor College of Medicine
Michel R. Leroux
Michel R. Leroux Simon Fraser University
Colin A. Johnson
Colin A. Johnson University of Leeds
Emma L. Duncan
Emma L. Duncan University of Queensland
William S. Davidson
William S. Davidson Simon Fraser University

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