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
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.
Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants. Leukemia. 2025 Jul; 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 Sep 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 Dec; 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
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma.
Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Netw Open. 2023 08 01; 6(8):e2327351.
PMID: 37556141
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 12; 25(12):100947.
PMID: 37534744
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.
Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies. Blood Adv. 2023 02 28; 7(4):549-554.
PMID: 36001442