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Genetics

D-Index
92
Citations
30209
World Ranking
1004
National Ranking
142

Medicine

D-Index
92
Citations
30603
World Ranking
11318
National Ranking
1075

Research.com Recognitions

  • 2013 - Fellow of the Royal Society, United Kingdom

Overview

Andrew O.M. Wilkie is affiliated with the University of Oxford in the United Kingdom. Their research primarily centers around biochemistry, genetics, and molecular biology, with a significant focus on genetics and molecular biology subfields. Wilkie's scholarly output encompasses various topics including craniofacial disorders and treatments, cleft lip and palate research, genomic variations and chromosomal abnormalities, genomics and rare diseases, connective tissue disorders research, genetics and neurodevelopmental disorders, and studies related to the Hedgehog signaling pathway.

The scientist has contributed extensively to academic literature with notable recent papers such as:

  • "Mendelian inheritance revisited: dominance and recessiveness in medical genetics" (2023), published in Nature Reviews Genetics
  • "The developing mouse coronal suture at single-cell resolution" (2021), published in Nature Communications
  • "TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development" (2021), published in Human Mutation
  • "Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases" (2023), published in Genome Medicine
  • "Population screening requires robust evidence-genomics is no exception" (2023), published in The Lancet

Wilkie frequently collaborates with other researchers. Some of the most common co-authors include Stephen R.F. Twigg, Eduardo Calpena, Steven A. Wall, Louise C. Wilson, and David Johnson, indicating active participation in collaborative research projects.

The scientist's work has been published across a variety of specialized venues. The most frequent publication outlets include:

  • Journal of Medical Genetics
  • Journal of Craniofacial Surgery
  • Genetics in Medicine
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Human Mutation

In recognition of their contributions to science, Andrew O.M. Wilkie was awarded Fellowship of the Royal Society, United Kingdom, in 2013.

Best Publications

  • Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications

    A Rimmer;H Phan;I Mathieson;Z Iqbal

  • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

    Andrew O.M. Wilkie;Andrew O.M. Wilkie;Sarah F. Slaney;Sarah F. Slaney;Michael Oldridge;Michael D. Poole

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  • A review of the molecular genetics of the human alpha-globin gene cluster.

    Higgs;M A Vickers;A O Wilkie;I M Pretorius

  • Craniosynostosis: Genes and Mechanisms

    Andrew O. M. Wilkie

  • The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.

    Jonathan Flint;Andrew O.M. Wilkie;Veronica J. Buckle;Robin M. Winter

  • Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

    P Rutland;L J Pulleyn;W Reardon;M Baraitser

  • Genetics of craniofacial development and malformation

    Andrew O. M. Wilkie;Gillian M. Morriss-Kay

  • Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

    Gillian M. Morriss-Kay;Andrew O. M. Wilkie

  • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

    M Muenke;K W Gripp;D M McDonald-McGinn;K Gaudenz

  • Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

    Stephen P. Robertson;Stephen P. Robertson;Stephen R.F. Twigg;Andrew J. Sutherland-Smith;Valérie Biancalana

  • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Jenny C. Taylor;Jenny C. Taylor;Hilary C. Martin;Stefano Lise;John Broxholme

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

    Anne Goriely;Andrew O.M. Wilkie

  • Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

    Stephen R. F. Twigg;Rui Kan;Christian Babbs;Elena G. Bochukova

  • The molecular basis of genetic dominance.

    A. O. M. Wilkie

  • Exclusive paternal origin of new mutations in Apert syndrome

    Dominique M. Moloney;Sarah R Slaney;Michael Oldridge;Steven A. Wall

  • Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault

    S. Iseki;A.O. Wilkie;G.M. Morriss-Kay

  • Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2

    Ali R. Afzal;Anna Rajab;Christiane D. Fenske;Michael Oldridge

  • OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

    SP Robertson;Twigg;AJ Sutherland-Smith;Biancalana

Frequent Co-Authors

Stephen R.F. Twigg
Stephen R.F. Twigg University of Oxford
Simon J. McGowan
Simon J. McGowan University of Oxford
Douglas R. Higgs
Douglas R. Higgs University of Oxford
Stephen P. Robertson
Stephen P. Robertson University of Otago
Veronica J. Buckle
Veronica J. Buckle University of Oxford
Jenny C. Taylor
Jenny C. Taylor University of Oxford
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
Peter J. van der Spek
Peter J. van der Spek Erasmus University Rotterdam
Han G. Brunner
Han G. Brunner Radboud University
David J. Weatherall
David J. Weatherall University of Oxford

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