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职业迁徙
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 137 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-Andres,Reinhard Kalb,Shane McKee,Tzung-Chien Hsieh,Annette Seibt, Marten Schouwink,Seema Lalani,Eissa Ali Faqeih,Theresa Brunet, Peter Boor,Kornelia Neveling,Alexander Hoischen,Barbara Hildebrandt,Elisabeth Graf,Linchao Lu,Weidong Jin,Joerg Schaper, Jamal A. Omer,Tanguy Demaret,Nicole Fleischer,Detlev Schindler,Peter Krawitz,Ertan Mayatepek,Dagmar Wieczorek,Lisa L. Wang,Wolfram Antonin,Ron D. Jachimowicz, Verena von Felbert,Felix Distelmaier
Genetics in medicineno. 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,Kate Chandler,Jaynee Chauhan, Amy Clarkson, Rachel Coles, Hector Conti,Philandra Costello, Tessa Coupar, Amy Craig,John Dean, Amy Dillon,Abhijit Dixit, Kathryn Drew,Jacqueline Eason,Francesca Forzano,Nicky Foulds,Alice Gardham,Neeti Ghali,Andrew Green, William Hanna,Rachel Harrison, Mairead Hegarty,Jenny Higgs,Muriel Holder,Rachel Irving,Vani Jain,Katie Johnson, Rachel Jolley,Wendy Jones,Gabriela Jones,Shelagh Joss, Ruta Kalinauskiene, Farah Kanini,Karl Kavanagh, Mahmudur Khan,Naz Khan,Emma Kivuva,Nayana Lahiri, Neeta Lakhani,Anne Lampe,Sally Ann Lynch,Sahar Mansour, Alice Marsden, Hannah Massey,Shane McKee,Shehla Mohammed,Swati Naik, Mithushanaa Nesarajah,Ruth Newbury-Ecob, Fiona Osborne,Michael J Parker,Jenny Patterson, Caroline Pottinger,Matina Prapa,Katrina Prescott, Shauna Quinn,Jessica A Radley,Sarah Robart,Alison Ross,Giulia Rosti,Francis Sansbury,Ajoy Sarkar,Claire Searle,Nora Shannon,Debbie Shears,Sarah Smithson,Helen Stewart,Mohnish Suri,Shereen Tadros, Rachel Theobald, Rhian Thomas, Olga Tsoulaki,Pradeep Vasudevan, Maribel Verdesoto,Emma Vittery, Sinead Whyte,Emily Woods,Thomas Wright, David Zocche,Helen V Firth,Caroline F Wright,the DDD Study
medrxiv(2023)
Luisa Averdunk,Maxim A. Huetzen,Daniel Moreno-Andres,Shane McKee,Tzung-Chien Hsieh,Annette Seibt,Tharsini Navaratnarajah,Eissa Ali Faqeih,Theresa Brunet, Peter Boor,Kornelia Neveling,Alexander Hoischen,Seema Lalani, Jamal A. S. Omar,Peter Krawitz,Ertan Mayatepek, Ron Jachimovicz,Wolfram Antonin,Dagmar Wieczorek,Lisa Wang, V. von Felbert,Felix Distelmaier
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 55-55
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PLOS global public healthno. 4 (2023): e0001795-e0001795
Lot Snijders Blok,Jolijn Verseput,Dmitrijs Rots,Hanka Venselaar, A. Micheil Innes,Connie Stumpel,Katrin Õunap,Karit Reinson,Eleanor G. Seaby,Shane McKee,Barbara Burton,Katherine Kim,Johanna M. van Hagen,Quinten Waisfisz,Pascal Joset,Katharina Steindl,Anita Rauch, Dong Li,Elaine H. Zackai,Sarah E. Sheppard,Beth Keena,Hakon Hakonarson,Andreas Roos,Nicolai Kohlschmidt,Anna Cereda,Maria Iascone,Erika Rebessi,Kristin D. Kernohan,Philippe M. Campeau,Francisca Millan,Jesse A. Taylor,Hanns Lochmüller,Martin R. Higgs,Amalia Goula,Birgitta Bernhard,Danita J. Velasco,Andrew A. Schmanski,Zornitza Stark,Lyndon Gallacher,Lynn Pais,Paul C. Marcogliese,Shinya Yamamoto,Nicholas Raun,Taryn E. Jakub,Jamie M. Kramer,Joery den Hoed,Simon E. Fisher,Han G. Brunner,Tjitske Kleefstra
medRxivno. 1 (2022): 100157-100157
Amy Hardcastle,Aliska M. Berry,Ian M. Campbell,Xiaonan Zhao,Pengfei Liu,Amanda E. Gerard,Jill A. Rosenfeld,Saumya D. Sisoudiya,Andres Hernandez-Garcia,Sara Loddo,Silvia Di Tommaso,Antonio Novelli,Maria L. Dentici,Rossella Capolino,Maria C. Digilio,Ludovico Graziani,Cecilie F. Rustad,Katherine Neas,Giovanni B. Ferrero,Alfredo Brusco,Eleonora Di Gregorio,Diana Wellesley,Claire Beneteau,Madeleine Joubert,Kris Van den Bogaert,Anneleen Boogaerts,Dominic J. McMullan,John Dean,Maria G. Giuffrida,Laura Bernardini,Vinod Varghese,Nora L. Shannon,Rachel E. Harrison,Wayne W. K. Lam,Shane McKee,Peter D. Turnpenny,Trevor Cole,Jenny Morton,Jacqueline Eason,Marilyn C. Jones, Rebecca Hall,Michael Wright,Karen Horridge,Chad A. Shaw,Wendy K. Chung,Daryl A. Scott
Genesno. 252 (2022): 252
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作者统计
#Papers: 141
#Citation: 4988
H-Index: 34
G-Index: 69
Sociability: 8
Diversity: 3
Activity: 24
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