Philip L. Beales

19.4k total citations · 3 hit papers
101 papers, 9.5k citations indexed

About

Philip L. Beales is a scholar working on Genetics, Molecular Biology and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Philip L. Beales has authored 101 papers receiving a total of 9.5k indexed citations (citations by other indexed papers that have themselves been cited), including 88 papers in Genetics, 74 papers in Molecular Biology and 8 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Philip L. Beales's work include Genetic and Kidney Cyst Diseases (81 papers), Genetic Syndromes and Imprinting (52 papers) and Hedgehog Signaling Pathway Studies (39 papers). Philip L. Beales is often cited by papers focused on Genetic and Kidney Cyst Diseases (81 papers), Genetic Syndromes and Imprinting (52 papers) and Hedgehog Signaling Pathway Studies (39 papers). Philip L. Beales collaborates with scholars based in United Kingdom, United States and Canada. Philip L. Beales's 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 and has published in prestigious journals such as Nature, Science and Proceedings of the National Academy of Sciences.

In The Last Decade

Philip L. Beales

101 papers receiving 9.3k citations

Hit Papers

align trajectories sort by overperformance

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. profile →
Bardet–Biedl syndrome

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

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Philip L. Beales United Kingdom	51	7.5k	6.9k	1.4k	724	706	101	9.5k
Bradley K. Yoder United States	58	8.7k 1.2×	9.2k 1.3×	2.1k 1.5×	933 1.3×	739 1.0×	138	11.9k
Jeremy F. Reiter United States	50	7.1k 0.9×	8.8k 1.3×	2.6k 1.9×	653 0.9×	602 0.9×	99	10.7k
José L. Badano United States	30	4.7k 0.6×	4.5k 0.7×	1.0k 0.7×	444 0.6×	328 0.5×	43	5.9k
Jing Zhou United States	39	5.3k 0.7×	5.4k 0.8×	1.0k 0.7×	465 0.6×	416 0.6×	86	7.7k
Giovanni Neri Italy	50	5.5k 0.7×	5.7k 0.8×	658 0.5×	1000 1.4×	695 1.0×	302	9.4k
Brunella Franco Italy	44	3.4k 0.5×	4.5k 0.7×	688 0.5×	399 0.6×	537 0.8×	138	7.0k
Thomas Lufkin United States	46	2.4k 0.3×	7.9k 1.2×	559 0.4×	323 0.4×	848 1.2×	133	9.8k
Paul Coucke Belgium	49	3.7k 0.5×	3.3k 0.5×	1.1k 0.8×	237 0.3×	491 0.7×	261	8.0k
Andreas Schedl France	52	4.3k 0.6×	9.6k 1.4×	1.8k 1.3×	590 0.8×	1.3k 1.8×	116	13.4k
Hélène Dollfus France	42	3.0k 0.4×	4.8k 0.7×	674 0.5×	243 0.3×	407 0.6×	178	6.7k

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

Haqq, Andrea M., Christine Poitou, Wendy K. Chung, et al.. (2025). Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome. The Journal of Clinical Endocrinology & Metabolism. 110(10). e3271–e3282. 3 indexed citations

Beyer, Tina, Emma Peskett, Georg Otto, et al.. (2023). De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1. Cells. 12(22). 2662–2662. 1 indexed citations

Tsyklauri, Oksana, Veronika Niederlová, Elizabeth Forsythe, et al.. (2021). Bardet–Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self‐tolerance. EMBO Reports. 22(2). e50785–e50785. 23 indexed citations

Thompson, Clare L., et al.. (2021). Polycystin-2 Is Required for Chondrocyte Mechanotransduction and Traffics to the Primary Cilium in Response to Mechanical Stimulation. International Journal of Molecular Sciences. 22(9). 4313–4313. 20 indexed citations

Schmidt‐Hieber, Christoph, Fernando J. Sialana, Lorenza Ciani, et al.. (2019). Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. PLoS Biology. 17(9). e3000414–e3000414. 16 indexed citations

Fu, Shaoyin, W. Wang, J. Paul Chapple, et al.. (2019). Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation. Osteoarthritis and Cartilage. 27(7). 1064–1074. 61 indexed citations

Kelberman, Daniel, Lily Islam, Jörn Lakowski, et al.. (2014). Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Human Molecular Genetics. 23(10). 2511–2526. 37 indexed citations

Denniston, Alastair K., Philip L. Beales, Peter Good, et al.. (2014). EVALUATION OF VISUAL FUNCTION AND NEEDS IN ADULT PATIENTS WITH BARDET–BIEDL SYNDROME. Retina. 34(11). 2282–2289. 30 indexed citations

Sousa, Sérgio B., Fabiana Ramos, Paula Garcia, et al.. (2013). Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters. American Journal of Medical Genetics Part A. 164(1). 10–14. 8 indexed citations

10.

Mahmood, Fahad, Monika Mozere, Anselm A. Zdebik, et al.. (2013). Generation and validation of a zebrafish model of EAST (Epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Disease Models & Mechanisms. 6(3). 652–60. 43 indexed citations

11.

Cárdenas-Rodríguez, Magdalena, Florencia Irigoı́n, Daniel P. S. Osborn, et al.. (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. 22(20). 4031–4042. 29 indexed citations

12.

Cárdenas-Rodríguez, Magdalena, Daniel P. S. Osborn, Florencia Irigoı́n, et al.. (2012). Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet–Biedl syndrome. Human Genetics. 132(1). 91–105. 30 indexed citations

13.

May‐Simera, Helen, et al.. (2010). Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left–right asymmetry in zebrafish. Developmental Biology. 345(2). 215–225. 60 indexed citations

14.

Kim, Jun Chul, José L. Badano, Muneer A. Esmail, et al.. (2004). The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. Nature Genetics. 36(5). 462–470. 329 indexed citations

15.

Katsanis, Nicholas, Stephen J. Ansley, José L. Badano, et al.. (2001). Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder. Science. 293(5538). 2256–2259. 438 indexed citations

16.

Beales, Philip L., Nicholas Katsanis, Richard A. Lewis, et al.. (2001). 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. The American Journal of Human Genetics. 68(3). 606–616. 57 indexed citations

17.

Katsanis, Nicholas, Philip L. Beales, Michael O. Woods, et al.. (2000). Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genetics. 26(1). 67–70. 224 indexed citations

18.

Beales, Philip L., et al.. (2000). Renal cancer and malformations in relatives of patients with Bardet‐Biedl syndrome. Nephrology Dialysis Transplantation. 15(12). 1977–1985. 32 indexed citations

19.

Katsanis, Nicholas, Richard A. Lewis, David W. Stockton, et al.. (1999). 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. The American Journal of Human Genetics. 65(6). 1672–1679. 39 indexed citations

20.

Beales, Philip L. & Peter Kopelman. (1994). Options for the Management of Obesity. PharmacoEconomics. 5(Supplement 1). 18–32. 7 indexed citations

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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