Research output per year
Research output per year
Overview
Profile summary
Julia Baptista was the Programme Lead for the MSc Healthcare Management, Leadership and Innovation and for the MSc Healthcare Improvement & Patient Safety at the Faculty of Health until April 2022.
An experienced educator and clinical scientist in genetics and genomics, Julia has a background of working within the NHS diagnostic services for patients with rare genetic diseases where she was a leading scientist providing diagnoses which could inform management and treatment for acutely unwell neonates and their families. Julia's work in the interface between clinical service and research has led to the identification of several novel disease genes and to expanding our understanding of rare diseases allowing families to make more informed decisions about their health.
Julia has extensive experience delivering clinical education to healthcare professionals through her previous roles as an Honorary Lecturer in Genomic Medicine, as the Rare Disease Scientific and Education Lead for Genome Sequencing at the South West Genomic Laboratory Hub and as a Faculty member at the European School of Genetic Medicine. She left the University of Plymouth to pursue her passion for genomics and is now a Scientific Training Officer (Practice Educator) and Clinical Scientist at the South East Genomics Laboratory Hub in London (King's College Hospital, Synnovis).
Professional memberships
Association for Clinical Genomic Science
The British Society for Genetic Medicine
European Society of Human Genetics
Royal College of Pathologists (Diplomate Member)
HCPC Registered Clinical Scientist (CS19885)
Roles on external bodies
Scientific Advisory Group Member of GenQA-Genomic Quality Assessment (Exome scheme lead 2021 and 2022)
European Society of Human Genetics Board Member (2021-2026)
Editorial Board European Journal of Human Genetics (2022- ongoing)
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
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Research output
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Ganapathi, M., Matsuoka, L. S., March, M., Li, D., Brokamp, E., Benito-Sanz, S., White, S. M., Lachlan, K., Ahimaz, P., Sewda, A., Bastarache, L., Thomas-Wilson, A., Stoler, J. M., Bramswig, N. C., Baptista, J., Stals, K., Demurger, F., Cogne, B., Isidor, B. & Bedeschi, M. F. & 17 others, , Oct 2023, In: European Journal of Human Genetics. 31, 10, p. 1117-1124Research output: Contribution to journal › Article › peer-review
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Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency
Shekari, S., Stankovic, S., Gardner, E. J., Hawkes, G., Kentistou, K. A., Beaumont, R. N., Mörseburg, A., Wood, A. R., Prague, J. K., Mishra, G. D., Day, F. R., Baptista, J., Wright, C. F., Weedon, M. N., Hoffmann, E. R., Ruth, K. S., Ong, K. K., Perry, J. R. B. & Murray, A., Jul 2023, In: Nature Medicine. 29, 7, p. 1692-1699Research output: Contribution to journal › Article › peer-review
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<scp><i>HK1</i></scp> haemolytic anaemia in association with a neurological phenotype and co‐existing <scp><i>CEP290</i> Meckel–Gruber</scp> in a Romani family
Sasaki, E., Phelan, E., O'Regan, M., Kassim, A. H., Miletin, J., McMahon, C., O'Sullivan, M. J., Baptista, J. & Lynch, S. A., Jan 2022, In: Clinical Genetics. 101, 1, p. 142-143Research output: Contribution to journal › Article › peer-review
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Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype
Oliwa, A., Joseph, S., Millar, E., Horrocks, I., Penman, D., Baptista, J., Cullup, T., Constantinou, P., Heuchan, A. M., Hamilton, R. & Longman, C., 1 Sept 2022, In: Journal of Neuromuscular Diseases. 0, 0, p. 1-6Research output: Contribution to journal › Article › peer-review
Open AccessFile9 Downloads (Pure) -
Comment on: Disease gene identification strategies for exome sequencing by Gilissen et al. 2012
Baptista, J., Oct 2022, In: European Journal of Human Genetics. 30, 10, p. 1100-1101Research output: Contribution to journal › Article › peer-review
Open AccessFile8 Downloads (Pure)