What is he best known for?
The fields of study he is best known for:
His primary areas of investigation include Genetics, Bardet–Biedl syndrome, BBS1, BBS2 and Cilium.
His work in BBS12 and BBS5 is related to Bardet–Biedl syndrome.
He interconnects McKusick–Kaufman syndrome, BBS10 and Polydactyly in the investigation of issues within BBS5.
His studies examine the connections between BBS1 and genetics, as well as such issues in Locus, with regards to Epistasis, Transmission disequilibrium test and Oligogenic Inheritance.
His work deals with themes such as Ciliary transition zone, Basal body, Internal medicine and Endocrinology, which intersect with Cilium.
In Cell biology, Philip L. Beales works on issues like Intraflagellar transport, which are connected to Caenorhabditis elegans and General surgery.
His most cited work include:
- Comparative Genomics Identifies a Flagellar and Basal Body Proteome that Includes the BBS5 Human Disease Gene (665 citations)
- New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey (607 citations)
- Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome (555 citations)
What are the main themes of his work throughout his whole career to date?
Genetics, Bardet–Biedl syndrome, Cilium, Ciliopathy and Ciliopathies are his primary areas of study.
His Bardet–Biedl syndrome study typically links adjacent topics like Polydactyly.
His Cilium research is multidisciplinary, incorporating perspectives in Intraflagellar transport, Basal body, Zebrafish and Neuroscience.
Philip L. Beales has included themes like Exome sequencing, Nephronophthisis, Joubert syndrome, White blood cell and Disease in his Ciliopathy study.
His study in Ciliopathies is interdisciplinary in nature, drawing from both Ellis–van Creveld syndrome and Wnt signaling pathway.
His Cell biology study combines topics from a wide range of disciplines, such as Endocrinology, Internal medicine and Cell polarity.
He most often published in these fields:
- Genetics (48.31%)
- Bardet–Biedl syndrome (38.20%)
- Cilium (34.27%)
What were the highlights of his more recent work (between 2016-2021)?
- Ciliopathy (26.40%)
- Bardet–Biedl syndrome (38.20%)
- Cilium (34.27%)
In recent papers he was focusing on the following fields of study:
His scientific interests lie mostly in Ciliopathy, Bardet–Biedl syndrome, Cilium, Genetics and Ciliopathies.
His Ciliopathy research is multidisciplinary, incorporating elements of Internal medicine, Nephrology and Nephronophthisis.
His work carried out in the field of Bardet–Biedl syndrome brings together such families of science as White blood cell, Immunology, Polydactyly, Disease and Cohort.
The study incorporates disciplines such as Mechanotransduction, Neuroscience, Wnt signaling pathway and Chondrocyte in addition to Cilium.
Philip L. Beales connects Genetics with Sentence in his study.
His Ciliopathies course of study focuses on Exome and Candidate gene and Zebrafish.
Between 2016 and 2021, his most popular works were:
- Common genetic variation drives molecular heterogeneity in human iPSCs (263 citations)
- Managing Bardet-Biedl Syndrome-Now and in the Future. (48 citations)
- Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children. (44 citations)
In his most recent research, the most cited papers focused on:
His primary areas of investigation include Bardet–Biedl syndrome, Disease, CD40, Immunology and B cell.
Philip L. Beales is interested in BBS10, which is a field of Bardet–Biedl syndrome.
His Disease research includes elements of Genome editing, Pharmacogenomics, BBS1 and Intellectual disability.
His study in CD40 intersects with areas of studies such as Juvenile dermatomyositis, Alpha interferon, CD19, Interleukin 10 and Toll-like receptor.
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