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个人简介
I'm a Consultant in Genetic and Genomic Medicine at the Northern Ireland Regional Genetics Service based at Belfast City Hospital (Belfast HSC Trust), and Clinical Director for Molecular Diagnostics. My clinical work and research interests are in the field of diagnosis and management of rare genetic disorders, principally affecting children.
I am the local Principal Investigator for Northern Ireland's contribution to the UK 100,000 Genomes Project and the DDD-UK Project, both of which have deliverered a significant benefit to our local patients.
As part of the 100,000 Genomes Project I am leading the development of the GenOCEANIC IT system to improve phenotype allocation and genome panel selection for patients with rare genetic disorders. This is based on an openEHR clinical data repository and a Clinical Decision Support system to enable clinicians to select the appropriate diagnostic tests for their patients.
I am also Deputy Chief Clinical Information Officer for the Belfast HSC Trust and have a strong interest in the application of digital technology and analytics to the delivery of healthcare. I am heavily involved in our regional implementation of the Epic electronic care record system in Acute and Community healthcare settings.
I am involved with the teaching of medical students and other students in healthcare and biomedical courses at Queen's University Belfast (Honorary Clinical Lecturer), as well as supervision and teaching for junior medical staff and others at Belfast HSC Trust and regionally in Northern Ireland.
研究兴趣
论文共 138 篇作者统计合作学者相似作者
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EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 577-577
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Luisa Averdunk,Maxim A Huetzen,Daniel Moreno-Andrés,Reinhard Kalb,Shane McKee,Tzung-Chien Hsieh,Annette Seibt, Marten Schouwink,Seema Lalani,Eissa Ali Faqeih,Theresa Brunet, Peter Boor,
Genetics in medicine : official journal of the American College of Medical Geneticsno. 7 (2023): 100836-100836
Harriet Copeland,Karen J Low,Sarah Wynn, Ayesha Ahmed, Victoria Arthur,Meena Balasubramanian, Katya Bennett,Jonathan Berg,Marta Bertoli,Lisa Bryson, Catrin Bucknall,Jamie Campbell,
medrxiv(2023)
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 55-55
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PLOS global public healthno. 4 (2023)
medRxivno. 1 (2022): 100157-100157
Ahmed S N Alhendi,Derek Lim,Shane McKee,Meriel McEntagart, Katriona Tatton-Brown,I Karen Temple,Justin H Davies,Deborah J G Mackay
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