Research output per year
Research output per year
Personal profile
Overview
Research and Development Scientist in Neuro Oncology, focused on basic genetics research and the development of new technology based diagnostic tests and implementing these new tests into the NHS environment. Expert in all types of NGS sequencing technology and associated laboratory techniques. Currently focused on gene fusions in oncology and methylation profiling of CNS tumours.
Biography
July 17 - Present R & D Scientist Neuro Oncology
Jan 10 – July 17 Translational Scientist
NGS Team, Manchester Centre for Genetic Medicine
Lead scientist in the next generation sequencing research group based in the MCGM
Feb 05 – Jan 10
Ophthalmic Genetics Scientist/Pre-Registration Clinical Scientist
National Genetics Reference Laboratory (Manchester) Department of Medical Genetics St. Mary’s Hospital Manchester
Jan 02 – Dec 04 Research Assistant
University of Manchester. Department of Medical Genetics. Under Professor Graeme Black and Dr Bronwyn Kerr studying the genetics of Costello and 3M syndromes
July 00 – Dec 02 Research Assistant
University of Manchester. Department of Medical Genetics. Under Professor Andrew Read. Studying the genetics Waardenburg and Menieres Syndromes
Nov 98 - June 00 Student (MPhil) University of Bradford Cellular interactions in the human hair follicle
Sep 96 - Aug 97 Industrial placement in the Molecular Genetics Dept. North Trent Regional Genetics Service Sheffield
Qualifications
BSc(Hons) Molecular & Cellular Biology University of Huddersfield
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
DDD Study, Smith, T. B., Kopajtich, R., Demain, L. A. M., Rea, A., Thomas, H. B., Schiff, M., Beetz, C., Joss, S., Conway, G. S., Shukla, A., Yeole, M., Radhakrishnan, P., Azzouz, H., Ben Chehida, A., Elmaleh-Bergès, M., Glasgow, R. I. C., Thompson, K., Oláhová, M. & He, L. & 19 others, , 2 Jan 2025, In: American Journal of Human Genetics. 112, 1, p. 59-74 16 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
DDD Study, 21 Aug 2024, Cold Spring Harbor Laboratory Press, (medRxiv).Research output: Preprint/Working paper › Preprint
Open Access -
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
Haghshenas, S., Putoux, A., Reilly, J., Levy, M. A., Relator, R., Ghosh, S., Kerkhof, J., McConkey, H., Edery, P., Lesca, G., Besson, A., Coubes, C., Willems, M., Ruiz-Pallares, N., Barat-Houari, M., Tizzano, E. F., Valenzuela, I., Sabbagh, Q., Clayton-Smith, J. & Jackson, A. & 5 others, , 1 Oct 2024, In: Genetics in medicine : official journal of the American College of Medical Genetics. 26, 10, 101226.Research output: Contribution to journal › Article › peer-review
Open AccessFile25 Downloads (Pure) -
Pre-Emptive Pharmacogenetics in The Acute Hospital Setting: A Cross-Sectional Study
Mcdermott, J., Burke, K., Fullerton, N., O'Sullivan, J., Alex, A., Ingham, A., Sharma, V., Godfrey, N., Odudu, A., Syed, T., Stevens, A., Benyon, R., Greaves, N., Akam, D., Mirza, S., Wilson, P., Wright, S., Payne, K. & Newman, W., 14 Oct 2024, In: Quarterly Journal of Medicine.Research output: Contribution to journal › Article › peer-review
Open Access -
3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum
Ashton, C. J., Perveen, R., Beaman, G., Crisponi, G., González-Del Angel, A., Garza-Mayén, G., Alcántara-Ortigoza, M. A., O'Sullivan, J. & Clayton-Smith, J., 1 Jan 2023, In: Clinical dysmorphology. 32, 1, p. 7-13 7 p.Research output: Contribution to journal › Article › peer-review