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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Research output
- 51 Article
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A CHALLENGING CASE OF SPORADIC MELANOCYTOMA OF THE JUGULAR FORAMEN
Donofrio, C. A., Roncaroli, F., Riccio, L., Pereira, M., O'Sullivan, J., Mayers, H., Potter, G. M., Djoukhadar, I. & Rutherford, S. A., 19 Jun 2021, In: Neuro-Chirurgie.Research output: Contribution to journal › Article › peer-review
Open AccessFile33 Downloads (Pure) -
Analysis of human total antibody repertoires in TIF1γ autoantibody positive dermatomyositis
Megremis, S., Walker, T., He, X., O'Sullivan, J., Ollier, W., Chinoy, H., Pendleton, N., Payton, A., Hampson, L., Hampson, I. & Lamb, J., 26 Mar 2021, In: Communications Biology.Research output: Contribution to journal › Article › peer-review
Open Access -
Biallelic loss of function variants in STAG3 result in primary ovarian insufficiency
Newman, W., O'Keefe, R., Demain, L., Beaman, G., O'Sullivan, J., Edgerley, J. J., Miles, E. K., Busby, G. & Fitzgerald, C., 16 Jul 2021, (E-pub ahead of print) In: Reproductive BioMedicine Online.Research output: Contribution to journal › Article › peer-review
Open AccessFile9 Downloads (Pure) -
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations
Hochberg, I., Demain, L., Richer, J., Thompson, K., Urquhart, J., Rea, A., Pagarkar, W., Rodriguez-Palmero, A., Beaman, G., O'Sullivan, J., Williams, S., Bhaskar, S., O'Keefe, R., Newman, W. & Munro, K., 28 Oct 2021, In: American Journal of Human Genetics. 108, 11, p. 2195-2204 10 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile46 Downloads (Pure) -
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts
Belot, A., Rice, G., Ommar, O. S., Rouchon, Q., Smith, E. M. D., Moreews, M., Tusseau, M., Frachette, C., Bournhonesque, R., Thielens, N., Gaboriaud, C., Rouvet, I., Chopin, E., Hoshino, A., Latour, S., Ranchin, B., Cimaz, R., Romagnani, P., Malcus, C., Fabien, N., & 22 others, Feb 2020, In: The Lancet Rheumatology. 2, p. e99-109 10 p.Research output: Contribution to journal › Article › peer-review