Andrew O. M. Wilkie - Genetic Mutations

Author Information

Andrew O. M. Wilkie is a distinguished researcher affiliated with the Clinical Genetics Group at the MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford OX3 9DS, UK. His research focuses on genetic disorders, particularly those affecting craniofacial development and neurodevelopmental syndromes.

Research Contributions

Andrew O. M. Wilkie has significantly contributed to the field of genetics, with a particular emphasis on craniosynostosis and other congenital disorders. His recent work includes studies on the role of histone H4 genes in neurodevelopmental syndromes, the single-cell resolution analysis of mouse coronal sutures, and the effects of ERF on osteoprogenitor cells. He has also explored the unexpected roles of SIX1 variants in craniosynostosis and examined the performance of clinical genome sequencing for diagnosing rare genetic diseases. His work is highly regarded for its depth and impact in understanding the genetic basis of developmental disorders.

Aliases

Andrew O. M. Wilkie is known by several aliases, including A.o.m. Wilkie, A O M Wilkie, Andrew O. Wilkie, and A Wilkie, among others. These variations appear in different publications and databases.

Publication and Citation Metrics

Metric	Value
Citation Count	19,582
h-index	71
Paper Count	316

Publications:

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

DOI: 10.1016/j.ajhg.2022.02.003

Year: 2022

The developing mouse coronal suture at single-cell resolution

DOI: 10.1038/s41467-021-24917-9

Year: 2021

Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway

DOI: 10.1128/MCB.00149-21

Year: 2021

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

DOI: 10.1136/jmedgenet-2020-107459

Year: 2021

The developing mouse coronal suture at single-cell resolution

DOI: 10.1101/2021.02.24.432636

Year: 2021

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

DOI: 10.1002/humu.24213

Year: 2021

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis

DOI: 10.1136/jmedgenet-2020-107572

Year: 2021

The developing mouse coronal suture at single-cell resolution

DOI: 10.21203/rs.3.rs-135455/v1

Year: 2021

Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

DOI: 10.1038/s41436-021-01297-5

Year: 2021

Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis

DOI: 10.1097/SCS.0000000000007535

Year: 2021

What Genetic Conditions Are Commonly Addressed in Occupational Therapy?

How Do Genetic Mutations Affect Immunotherapy?

What is the Future of Hemophilia Research?

How Do Nucleotide Mutations Occur?

How Do Genetic Mutations Affect Vaccine Efficacy?

How is Sickle Cell Disease Diagnosed?

Are CNVs Inherited?

What is Hemoglobin S (HbS)?

What Are the Common Types of Errors?

Which Gene is Involved?

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