What is he best known for?
The fields of study he is best known for:
His primary areas of investigation include Genetics, Craniosynostosis, Mutation, Acrocephalosyndactylia and Fibroblast growth factor receptor 2.
His work is connected to Phenotype, Apert syndrome, Pfeiffer syndrome, Gene and Missense mutation, as a part of Genetics.
The Pfeiffer syndrome study combines topics in areas such as Crouzon syndrome and Exon.
Andrew O.M. Wilkie has included themes like Disease gene identification, Hedgehog, Hedgehog signaling pathway and Carpenter syndrome in his Missense mutation study.
Andrew O.M. Wilkie combines subjects such as Coronal craniosynostosis and Neural crest with his study of Craniosynostosis.
His work carried out in the field of Mutation brings together such families of science as Haploinsufficiency and Germline.
His most cited work include:
- Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. (728 citations)
- Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. (728 citations)
- Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications (668 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of study are Genetics, Craniosynostosis, Mutation, Gene and Missense mutation.
His Genetics and Phenotype, Haploinsufficiency, Allele, Apert syndrome and Medical genetics investigations all form part of his Genetics research activities.
In his research on the topic of Apert syndrome, Crouzon syndrome is strongly related with Fibroblast growth factor receptor 2.
His Craniosynostosis study integrates concerns from other disciplines, such as Pediatrics, Dysostosis, Craniofacial and Pathology.
His research investigates the connection between Mutation and topics such as Germline that intersect with issues in Germline mutation.
His study explores the link between Missense mutation and topics such as Acrocephalosyndactylia that cross with problems in Saethre–Chotzen syndrome.
He most often published in these fields:
- Genetics (71.29%)
- Craniosynostosis (36.13%)
- Mutation (20.00%)
What were the highlights of his more recent work (between 2014-2021)?
- Genetics (71.29%)
- Craniosynostosis (36.13%)
- Missense mutation (15.16%)
In recent papers he was focusing on the following fields of study:
Genetics, Craniosynostosis, Missense mutation, Gene and Phenotype are his primary areas of study.
His is involved in several facets of Genetics study, as is seen by his studies on Mutation, Haploinsufficiency, Exome, Protein domain and Genome.
His Haploinsufficiency research is multidisciplinary, incorporating perspectives in Open reading frame, Saethre–Chotzen syndrome, Acrocephalosyndactylia and Coding region.
Craniosynostosis is a primary field of his research addressed under Anatomy.
His Missense mutation research integrates issues from Penetrance, Loss function, Intellectual disability and Developmental disorder.
His work in Phenotype addresses issues such as Cell biology, which are connected to fields such as Embryonic stem cell and Townes–Brocks syndrome.
Between 2014 and 2021, his most popular works were:
- Factors influencing success of clinical genome sequencing across a broad spectrum of disorders (227 citations)
- A Genetic-Pathophysiological Framework for Craniosynostosis (119 citations)
- New insights into craniofacial malformations (63 citations)
In his most recent research, the most cited papers focused on:
Andrew O.M. Wilkie mostly deals with Genetics, Mutation, Missense mutation, Craniosynostosis and Phenotype.
Many of his studies on Genetics involve topics that are commonly interrelated, such as Computational biology.
In his study, which falls under the umbrella issue of Mutation, Hedgehog, Smoothened and Microphthalmia is strongly linked to Cancer research.
Andrew O.M. Wilkie has researched Missense mutation in several fields, including Loss function, Coronal craniosynostosis, Telecanthus, Intellectual disability and Exon.
His Craniosynostosis study incorporates themes from Nonsense mutation, ZIC1, Genetic testing and Obligate carrier.
His research in the fields of Haploinsufficiency overlaps with other disciplines such as Cyclin-dependent kinase, MAP kinase kinase kinase and MAP3K7.
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