Philip L. Beales - Concepedia

Author

Philip L. Beales

Also Known As

Chiara Bacchelli, Inês Barroso, P. Beales, P.L. Beales, Philip Beales, Philip L Beales, Philip L. Beales, Philip L. Beales

Publications

737

Citations

H-Index

Concepts

All Affiliations

University College London Great Ormond Street Hospital University of Nottingham Royal Brompton & Harefield NHS Foundation Trust Great Ormond Street Hospital for Children NHS Foundation Trust

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	293
2	Engineering	1	1	85
3	Allergy	1	1	57
4	Cell Biology	1	1	122
5	Immunology	1	1	57

Philip L. Beales

Publications

542

Citations

H-Index

Page 1

	Year	Citations
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children Lamia Mestek, Emma Clement, Wendy D. Jones, Journal of Medical Genetics	2018	129
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy Miriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, The American Journal of Human Genetics Genetic DisorderGeneticsDegenerative DiseaseMolecular GeneticsDisease Gene Identification	2013	122
Combined exome and whole-genome sequencing identifies mutations in <i>ARMC4</i> as a cause of primary ciliary dyskinesia with defects in the outer dynein arm Alexandros Onoufriadis, Amelia Shoemark, Mustafa M. Munye, Journal of Medical Genetics	2013	91
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 Alexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, Human Molecular Genetics EngineeringCommon MechanismGeneticsPathologyDisease Gene Identification	2014	85
An enzyme-linked immunosorbent assay (ELISA) for quantification of human collectin 11 (CL-11, CL-K1) Lana Selman, Maiken L. Henriksen, Jette Brandt, Journal of Immunological Methods Laboratory ImmunologyCollectin Kidney 1ImmunodeficienciesImmunologyPathology	2011	57
Bardet Biedl Syndrome Amelia Shoemark, Mellisa Dixon, Philip L. Beales, CHEST Journal Genetic DisorderBardet Biedl SyndromeHematologyHistopathologyPathology	2014	29
Evaluation of Zebrafish Kidney Function Using a Fluorescent Clearance Assay Sonia Christou-Savina, Philip L. Beales, Daniel P. S. Osborn Journal of Visualized Experiments	2015	29

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