Philip L. Beales - Concepedia

Author

Philip L. Beales

Also Known As

Beales, P, Beales, P.L., E. Duncan, Gregory J. Pazour, Helen V. Firth, Hou-Feng Zheng, P Beales, P L Beales, P. Beales, P. L. Beales

192

Publications

19.3K

Citations

H-Index

137

Concepts

All Affiliations

University College London Johns Hopkins University Baylor College of Medicine Great Ormond Street Hospital Simon Fraser University

About

Philip L. Beales is an author at University College London specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	50	63	12.5K
2	Natural Sciences	8	8	2.2K
3	Health Sciences	3	3	826
4	Arts	1	1	43
5	Engineering	1	1	65

Philip L. Beales

100

Publications

16.2K

Citations

H-Index

Page 1

	Year	Citations
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf, Journal of Medical Genetics Improved DiagnosisDiagnosisPathologyClinical FindingMendelian Disorder	1999	962
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, Cell Basal Body ProteomeGenetic DisorderComparative GenomicsGeneticsMedicine	2004	763
Bardet–Biedl syndrome Elizabeth Forsythe, Philip L. Beales European Journal of Human Genetics	2012	725
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome Stephen J. Ansley, José L. Badano, Oliver E. Blacque, Nature Clinical DisordersPhysiologyDegenerative DiseaseRehabilitationNeurology	2003	686
Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder Nicholas Katsanis, Stephen J. Ansley, José L. Badano, Science Mendelian DisorderGenetic DisorderGeneticsClinical GeneticsPathology	2001	653
Common genetic variation drives molecular heterogeneity in human iPSCs Helena Kilpinen, Ângela Gonçalves, Andreas Leha, Nature Allelic VariantHuman VariationGeneticsHuman PolymorphismHuman Ipscs	2017	627
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates Alison Ross, Helen May‐Simera, Erica R. Eichers, Nature Genetics Signal TransductionDevelopmental BiologyMedicineIntercellular CommunicationCiliary Body	2005	548
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome Carmen C. Leitch, Norann A. Zaghloul, Erica E. Davis, Nature Genetics Syndromic Encephalocele GenesDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2008	394
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression Jun Chul Kim, José L. Badano, Sonja Sibold, Nature Genetics Microtubule AnchoringProtein FunctionSignal TransductionCell Cycle ProgressionCell Division	2004	394
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response Jantje M. Gerdes, Yangfan Liu, Norann A. Zaghloul, Nature Genetics Signal TransductionSignaling PathwayEndocrine MechanismPhysiologyCellular Regulatory Mechanism	2007	391

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