Andrew O.M. Wilkie - Concepedia

Author

Andrew O.M. Wilkie

Also Known As

A O M Wilkie, A O Wilkie, A WILKIE, A Wilkie, A. M. Wilkie, A. O M Wilkie, A. O. M. WILKIE, A. O. M. Wilkie, A. O.M. WILKIE, A. Wilkie

464

Publications

28.8K

Citations

H-Index

209

Concepts

All Affiliations

University of Oxford John Radcliffe Hospital MRC Weatherall Institute of Molecular Medicine Oxford University Hospitals NHS Trust Churchill Hospital

About

Andrew O.M. Wilkie is an author at University of Oxford specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	50	96	12.3K
2	Engineering	5	5	1.4K
3	Arts	2	2	34
4	Education	2	2	76
5	Health Sciences	2	2	35

Andrew O.M. Wilkie

194

Publications

20.3K

Citations

H-Index

Page 1

	Year	Citations
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications Andy Rimmer, Hang Phan, Iain Mathieson, Nature Genetics Long-read SequencingHaplotype DeterminationAllelic VariantSequencingNext-generation Sequencing	2014	1.2K
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome Andrew O.M. Wilkie, Sarah F. Slaney, Michael Oldridge, Nature Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsGenetic Epidemiology	1995	925
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data Sebastian Köhler, Sandra C. Doelken, Chris Mungall, Nucleic Acids Research EngineeringGeneticsUpdated Hpo DatabaseGenetic EpidemiologyMolecular Biology	2013	834
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation Jonathan Flint, Andrew O.M. Wilkie, Veronica J. Buckle, Nature Genetics ChromatinMendelian DisorderPsychiatryCytogeneticsGenetic Disorder	1995	508
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes Paul Rutland, Louise J. Pulleyn, William Reardon, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderGeneticsIdentical Mutations	1995	456
Craniosynostosis David Johnson, Andrew O.M. Wilkie European Journal of Human Genetics	2011	453
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Nature Genetics Developmental BiologyMendelian DisorderGenetic DisorderCytoskeletal ProteinGenetics	2003	426
Model completeness results for expansions of the ordered field of real numbers by restricted Pfaffian functions and the exponential function Andrew O.M. Wilkie Journal of the American Mathematical Society EngineeringGeneralized FunctionModel Completeness ResultsExponential FunctionFinite Field	1996	411
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn, PubMed	1997	394
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders Jenny C. Taylor, Hilary C. Martin, Stefano Lise, Nature Genetics SequencingPsychiatryClinical GenomeGeneticsMedicine	2015	378

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