The work in our laboratory focuses on the molecular diagnosis of human genetic disease. Our interest is in translating knowledge obtained from basic research studies to the diagnostic arena, and in developing tools and implementing new technology to improve the diagnosis of human genetic disease.
My research interests are translational in nature and are an extension of our diagnostic activities. My main area of interest is in neurodevelopmental disorders, in understanding the underlying molecular basis of these disorders and in genotype-phenotype correlation. By uncovering the molecular defects in many of these disorders, we have been able to broaden the phenotype associated with many neurodevelopmental genes. We work on disorders ranging from rare orphan genetic disorders such as Rett and Angelman syndrome to more common disorders such as ataxia. We use high throughput sequencing techniques, such as exome sequencing, for the identification of disease causing variants. On a more long-term basis we are interested in assessing the diagnostic and clinical utility of high throughput technologies such as whole genome sequencing and transcriptome sequencing in molecular diagnostics.
University of California San Francisco
USA
Postdoctoral Fellow - Clinical Molecular Genetics
1995
University College London
UK
Ph.D. - Molecular Biology
1991
University of Glasgow
UK
M.Sc. - Medical Genetics
1987
University of Ife
Nigeria
B.Sc. - Health Sciences
1985
Oncology drug development in the UK: analysis of the past 25 years and focus on the 2026 reboot of the clinical trial regulatory framework.
Oncology drug development in the UK: analysis of the past 25 years and focus on the 2026 reboot of the clinical trial regulatory framework. Br J Cancer. 2026 Jul 23.
PMID: 42493600
Germline cancer risk alleles drive myelodysplastic neoplasms throughout adulthood.
Germline cancer risk alleles drive myelodysplastic neoplasms throughout adulthood. Leukemia. 2026 Sep; 40(9):2059-2061.
PMID: 42443408
Germline genetic testing and privacy concerns in patients with mesothelioma.
Germline genetic testing and privacy concerns in patients with mesothelioma. Genet Med. 2026 05; 28(5):102550.
PMID: 41795597
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants. Leukemia. 2025 07; 39(7):1702-1713.
PMID: 40335619
Overall cancer risk in people with deleterious germline DDX41 variants.
Overall cancer risk in people with deleterious germline DDX41 variants. Haematologica. 2025 09 01; 110(9):2076-2090.
PMID: 39945023
Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation.
Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantation. Haematologica. 2024 Nov 01; 109(11):3739-3744.
PMID: 38618681
Biomarkers in head and neck squamous cell carcinoma: unraveling the path to precision immunotherapy.
Biomarkers in head and neck squamous cell carcinoma: unraveling the path to precision immunotherapy. Front Oncol. 2024; 14:1473706.
PMID: 39439946
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).
Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B). Ann Neurol. 2024 12; 96(6):1092-1103.
PMID: 39263992
Development of an effective single-chain variable fragment recognizing a novel epitope in the hepatitis C virus E2 protein that restricts virus entry into hepatocytes.
Development of an effective single-chain variable fragment recognizing a novel epitope in the hepatitis C virus E2 protein that restricts virus entry into hepatocytes. Arch Virol. 2024 Apr 29; 169(5):112.
PMID: 38683226
Sequential tumor molecular profiling identifies likely germline variants.
Sequential tumor molecular profiling identifies likely germline variants. Genet Med. 2024 03; 26(3):101037.
PMID: 38054407