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Author Details

Andrew O M Wilkie
NIHR Oxford Biomedical Research Centre
1982
252
74
PMIDPaper TitleJournal TitlePublished Year
36792598Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.Nat Commun2023
37946251Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome Med2023
37154149Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.Genet Med2023
36980886Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes (Basel)2023
37175668Development of Erf-Mediated Craniosynostosis and Pharmacological Amelioration.Int J Mol Sci2023
36543535Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) function.J Med Genet2023
36806206Mendelian inheritance revisited: dominance and recessiveness in medical genetics.Nat Rev Genet2023
33436522Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.J Med Genet2022
35508637Gregor Mendel and the concepts of dominance and recessiveness.Nat Rev Genet2022
35761471Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.J Craniofac Surg2022
35627201Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.Genes (Basel)2022
36178483The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.Genet Med2022
35202563Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.Am J Hum Genet2022
34353863Biallelic <i>GINS2</i> variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.J Med Genet2022
34310431Hearing, Speech, Language, and Communicative Participation in Patients With Apert Syndrome: Analysis of Correlation With Fibroblast Growth Factor Receptor 2 Mutation.J Craniofac Surg2022
33074973Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.J Craniofac Surg2021
33904513Neurodevelopmental, Cognitive, and Psychosocial Outcomes for Individuals With Pathogenic Variants in the TCF12 Gene and Associated Craniosynostosis.J Craniofac Surg2021
33565190TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.Hum Mutat2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34376651The developing mouse coronal suture at single-cell resolution.Nat Commun2021
33993607Dissection of contiguous gene effects for deletions around ERF on chromosome 19.Hum Mutat2021
33972395Erf Affects Commitment and Differentiation of Osteoprogenitor Cells in Cranial Sutures via the Retinoic Acid Pathway.Mol Cell Biol2021
32371695Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome.J Craniofac Surg2020
32101608amplimap: a versatile tool to process and analyze targeted NGS data.Bioinformatics2020
32005695ATR-16 syndrome: mechanisms linking monosomy to phenotype.J Med Genet2020
32636483Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.Genet Med2020
32442410De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.Am J Hum Genet2020
32266521A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.Hum Genet2020
30309848Selective loss of function variants in <i>IL6ST</i> cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.Haematologica2019
31299755Language Development, Hearing Loss, and Intracranial Hypertension in Children With TWIST1-Confirmed Saethre-Chotzen Syndrome.J Craniofac Surg2019
31350555amplimap: a versatile tool to process and analyze targeted NGS data.Bioinformatics2019
31348830The impact of chemo- and radiotherapy treatments on selfish de novo FGFR2 mutations in sperm of cancer survivors.Hum Reprod2019
31345272Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.Genome Med2019
31230393Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.Hum Mutat2019
31123110Germline selection shapes human mitochondrial DNA diversity.Science2019
30758909ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.Am J Med Genet A2019
30905399De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.Am J Hum Genet2019
29021403Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability.J Med Genet2018
29861108De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.Am J Hum Genet2018
29884872The Drosophila homologue of MEGF8 is essential for early development.Sci Rep2018
30040876Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.Hum Mutat2018
30355600Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.Genome Res2018
29429572Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.Am J Hum Genet2018
29395072Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.Am J Hum Genet2018
29180823HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.Eur J Hum Genet2018
27884935Diagnostic value of exome and whole genome sequencing in craniosynostosis.J Med Genet2017
28386950Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.Am J Med Genet A2017
28138148Many faces of SMCHD1.Nat Genet2017
28327571Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study.Eur J Hum Genet2017
28369379Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.Hum Mol Genet2017
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Collaborators

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Co-authored papers 18
Nuffield Division of Clinical Laboratory Sciences, University of Oxford
Co-authored papers 11
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Co-authored papers 8
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Co-authored papers 8
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Co-authored papers 7
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Co-authored papers 6
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Co-authored papers 6
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Co-authored papers 5
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Co-authored papers 5
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Co-authored papers 5
Maastricht University Medical Centre
Co-authored papers 4
Co-authored papers 4
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 4
UCL Great Ormond Street Institute of Child Health Library
Co-authored papers 4
Children's Cancer Research Institute
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NIHR Biomedical Research Centre, University of Oxford
Co-authored papers 4
Guy's and St Thomas' NHS Foundation Trust
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University College Dublin
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University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
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