Philip L. Beales

19.4k citations

101 papers · 9.5k indexed · 3 hit papers · h-index 51

Genetics top 0.05%
Molecular Biology top 0.5%
Cell Biology top 0.5%
Pediatrics, Perinatology and Child Health top 1%
Surgery top 5%

Co-authors: Nicholas Katsanis Elizabeth Forsythe José L. Badano Aoife Waters Jonathan L. Tobin Stephen J. Ansley Frances Flinter Carmen C. Leitch
Topics: Genetic and Kidney Cyst Diseases (81 papers)Genetic Syndromes and Imprinting (52 papers)Hedgehog Signaling Pathway Studies (39 papers)
Cited by: Genetics Molecular Biology Cell Biology
Journals: Nature Science Proceedings of the National Academy of Sciences
Partner nations: United Kingdom United States Canada

In The Last Decade

Philip L. Beales

101 papers receiving 9.3k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

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

1999 628 citations Philip L. Beales, Nursel Elçioğlu et al. profile →
Ciliopathies: an expanding disease spectrum

2011 498 citations Philip L. Beales et al. Pediatric Nephrology profile →
Bardet–Biedl syndrome

2012 481 citations Elizabeth Forsythe, Philip L. Beales profile →

Peers

Countries citing papers authored by Philip L. Beales

Since Specialization

Citations

This map shows the geographic impact of Philip L. Beales's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Philip L. Beales with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Philip L. Beales more than expected).

Fields of papers citing papers by Philip L. Beales

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Philip L. Beales. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Philip L. Beales. The network helps show where Philip L. Beales may publish in the future.

Co-authorship network of co-authors of Philip L. Beales

This figure shows the co-authorship network connecting the top 25 collaborators of Philip L. Beales. A scholar is included among the top collaborators of Philip L. Beales based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Philip L. Beales. Philip L. Beales is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome 2025 ·The Journal of Clinical Endocrinology & Metabolism ·Andrea M. Haqq,Christine Poitou,Wendy K. Chung,Elizabeth Forsythe,Rushika Conroy,Hélène Dollfus,(unknown),(unknown),(unknown),Philip L. Beales,Karine Clément,Jesús Argente	3
2	De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1 2023 ·Cells ·(unknown),(unknown),(unknown),Tina Beyer,(unknown),Emma Peskett,(unknown),(unknown),Georg Otto,Jeshmi Jeyabalan,Víctor Hernández-Hernández,Gaurav D. Diwan,Robert B. Russell,Marius Ueffing,Martina Huranová,Karsten Boldt,Philip L. Beales,Dagan Jenkins	1
3	Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance 2021 ·EMBO Reports ·Oksana Tsyklauri,Veronika Niederlová,Elizabeth Forsythe,(unknown),Ales Drobek,Petr Kašpárek,(unknown),Zdeněk Trachtulec,Jan Procházka,Radislav Sedláček,Philip L. Beales,Martina Huranová,Ondřej Štěpánek	23
4	Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation 2019 ·Osteoarthritis and Cartilage ·Shaoyin Fu,(unknown),(unknown),W. Wang,J. Paul Chapple,Hannah M. Mitchison,Philip L. Beales,A.K. Wann,Martin M. Knight	61
5	Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons 2019 ·PLoS Biology ·(unknown),Christoph Schmidt‐Hieber,Fernando J. Sialana,Lorenza Ciani,J Heller,Michelle Stewart,Liz Bentley,Sara Wells,Richard J. Rodenburg,Patrick M. Nolan,Elizabeth Forsythe,(unknown),Gert Lübec,Patricia C. Salinas,Michael Häusser,Philip L. Beales,(unknown)	16
6	Non-essential role for cilia in coordinating precise alignment of lens fibres 2016 ·Mechanisms of Development ·Yuki Sugiyama,(unknown),Bradley K. Yoder,Zbyněk Kozmík,Helen May‐Simera,Philip L. Beales,Frank J. Lovicu,John W. McAvoy	12
7	EVALUATION OF VISUAL FUNCTION AND NEEDS IN ADULT PATIENTS WITH BARDET–BIEDL SYNDROME 2014 ·Retina ·Alastair K. Denniston,Philip L. Beales,(unknown),Peter Good,(unknown),Lukas Foggensteiner,Denise Williams,Marie Tsaloumas	30
8	Mutation of SALL2 causes recessive ocular coloboma in humans and mice 2014 ·Human Molecular Genetics ·Daniel Kelberman,Lily Islam,Jörn Lakowski,Chiara Bacchelli,Estelle Chanudet,Francesco Lescai,(unknown),Elia Stupka,(unknown),Stephan Wolf,Philip L. Beales,Thomas S. Jacques,Maria Bitner‐Glindzicz,Alki Liasis,Ordan J. Lehmann,Jürgen Kohlhase,Ken K. Nischal,Jane C. Sowden	37
9	Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters 2013 ·American Journal of Medical Genetics Part A ·Sérgio B. Sousa,Fabiana Ramos,Paula Garcia,(unknown),(unknown),Philip L. Beales,Gudrun E. Moore,Jorge Saraiva,Raoul C. M. Hennekam	8
10	Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left–right asymmetry in zebrafish 2010 ·Developmental Biology ·Helen May‐Simera,Masatake Kai,Víctor Hernández-Hernández,Daniel P. S. Osborn,(unknown),Philip L. Beales	60
11	Restoration of renal function in zebrafish models of ciliopathies 2008 ·Pediatric Nephrology ·Jonathan L. Tobin,Philip L. Beales	63
12	IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy 2007 ·Nature Genetics ·Philip L. Beales,(unknown),Jonathan L. Tobin,Chiara Bacchelli,Beyhan Tüysüz,Josephine Hill,Suzanne Rix,Chad G. Pearson,Masatake Kai,Jane Hartley,Colin A. Johnson,Melita Irving,Nursel Elçioğlu,Mark Winey,Masazumi Tada,Peter Scambler	227
13	The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression 2004 ·Nature Genetics ·Jun Chul Kim,José L. Badano,(unknown),Muneer A. Esmail,Josephine Hill,Bethan E. Hoskins,Carmen C. Leitch,Kerrie Venner,Stephen J. Ansley,Alison Ross,Michel R. Leroux,Nicholas Katsanis,Philip L. Beales	329
14	BBS4 Is a Minor Contributor to Bardet-Biedl Syndrome and May Also Participate in Triallelic Inheritance 2002 ·The American Journal of Human Genetics ·Nicholas Katsanis,Erica R. Eichers,Stephen J. Ansley,Richard A. Lewis,Hülya Kayserili,Bethan E. Hoskins,Peter Scambler,Philip L. Beales,James R. Lupski	90
15	Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder 2001 ·Science ·Nicholas Katsanis,Stephen J. Ansley,José L. Badano,Erica R. Eichers,Richard A. Lewis,Bethan E. Hoskins,Peter Scambler,William S. Davidson,Philip L. Beales,James R. Lupski	438
16	Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci 2001 ·The American Journal of Human Genetics ·Philip L. Beales,Nicholas Katsanis,Richard A. Lewis,Stephen J. Ansley,Nursel Elçioğlu,Jamal Raza,Michael O. Woods,Jane S. Green,Patrick S. Parfrey,William S. Davidson,James R. Lupski	57
17	Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome 2000 ·Nature Genetics ·Nicholas Katsanis,Philip L. Beales,Michael O. Woods,Richard A. Lewis,Jane S. Green,Patrick S. Parfrey,Stephen J. Ansley,William S. Davidson,James R. Lupski	224
18	Delineation of the Critical Interval of Bardet-Biedl Syndrome 1 (BBS1) to a Small Region of 11q13, through Linkage and Haplotype Analysis of 91 Pedigrees 1999 ·The American Journal of Human Genetics ·Nicholas Katsanis,Richard A. Lewis,David W. Stockton,(unknown),Lisa Baird,Philip L. Beales,Mark Leppert,James R. Lupski	39
19	Obesity genes 1996 ·Clinical Endocrinology ·Philip L. Beales,Peter Kopelman	6
20	Options for the Management of Obesity 1994 ·PharmacoEconomics ·Philip L. Beales,Peter Kopelman	7

About Philip L. Beales

Philip L. Beales is a scholar working on Genetics, Molecular Biology and Urology, having authored 101 papers that have together received 9.5k indexed citations. Recurring topics across this work include Genetic and Kidney Cyst Diseases (81 papers), Genetic Syndromes and Imprinting (52 papers) and Hedgehog Signaling Pathway Studies (39 papers). The work is most often cited by research in Genetics (7.5k citations), Molecular Biology (6.9k citations) and Cell Biology (1.4k citations). Philip L. Beales has collaborated with scholars based in United Kingdom, United States and Canada. Frequent co-authors include Nicholas Katsanis, Elizabeth Forsythe, José L. Badano, Aoife Waters, Jonathan L. Tobin, Stephen J. Ansley, Frances Flinter, Carmen C. Leitch, Richard A. Lewis and Bethan E. Hoskins. Their work appears in journals such as Nature, Science and Proceedings of the National Academy of Sciences.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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