Andrew O.M. Wilkie

John Radcliffe Hospital — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

88h-index28.8kcitations464works3.42yr avg
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Research Topics

Craniofacial Disorders and Treatments(141), Cleft Lip and Palate Research(96), Genomic variations and chromosomal abnormalities(52), Connective tissue disorders research(48), Genomics and Rare Diseases(46)

Publications457 total

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications
Genome Medicine·2025· 2 citedOpen Access
Not Apert Syndrome: A Critique of a Recent Case Report by Pan and Yang
American Journal of Medical Genetics Part A·2025
Absence of Syndactyly Associated With the Common Apert <scp>FGFR2 S252W</scp> Mutation: A Clinical Report and Likely Molecular Explanation
American Journal of Medical Genetics Part A·2025· 1 citedOpen Access
RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome
PLoS Genetics·2025· 1 citedOpen Access
BCL11B-related disease: a single phenotypic entity?
European Journal of Human Genetics·2025· 1 citedOpen Access
<i>RAB23</i> loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome
2025· 1 citedOpen Access
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Human Mutation·2025· 1 citedOpen Access
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans
Genetics in Medicine Open·2025Open Access
Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus
Human Genetics and Genomics Advances·2024· 3 citedOpen Access
Introduction: Professor Gillian Morriss‐Kay <scp>DSc</scp>
Journal of Anatomy·2024Open Access
SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
The American Journal of Human Genetics·2024· 15 citedOpen Access
A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark
Genes·2024· 10 citedOpen Access
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients
European Journal of Human Genetics·2024· 5 citedOpen Access
Reassessing the association: Evaluation of a polyalanine deletion variant of <scp><i>RUNX2</i></scp> in non‐syndromic sagittal and metopic craniosynostosis
Journal of Anatomy·2024· 2 citedOpen Access
Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit
Journal of Craniofacial Surgery·2024· 3 cited
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome
Journal of Medical Genetics·2024· 10 citedOpen Access
Homozygous <i>SMAD6</i> variants in two unrelated patients with craniosynostosis and radioulnar synostosis
Journal of Medical Genetics·2024· 4 citedOpen Access
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits
Genetics in Medicine Open·2024· 3 citedOpen Access
Population screening requires robust evidence—genomics is no exception
The Lancet·2023· 49 cited
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Genome Medicine·2023· 64 citedOpen Access
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Frequent Co-authors

Steven A. Wall(15), Stephen R.F. Twigg(13), Michael Oldridge(10), David Johnson(9), Gillian Morriss‐Kay(7), Jane A. Hurst(5), Simon J. McGowan(4), Gil McVean(3), Sarah F. Slaney(3), Robin M. Winter(3), Helen V. Firth(3), Sahar Mansour(3), Donna M. McDonald‐McGinn(3), Anne Goriely(3), Dian Donnai(3), Navaratnam Elanko(3), Sinéad Walsh(3), Robert E. Maxson(3), Sachiko Iseki(3), Samantha J.L. Knight(3)