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Her major research interests are in the genetics, epigenetics and clinical characterization of childhood developmental disorders. She is the clinical research lead for the Wessex Imprinting group, a University NHS partnership which offers diagnostic testing and runs research programs for families with imprinting disorders throughout the UK. Imprinting disorders result from aberrant expression of a group of genes controlled by epigenetic mechanisms established in the developing germ cells. The conditions characteristically impact most in fetal and post natal growth, metabolism and appetite. She has pioneered research into the genetic causes of transient neonatal diabetes (TND), work that has changed the treatment for neonates with diabetes. She runs the Diabetes UK TND national register. She is recognized for her identification of new genetic imprinting syndromes including Temple syndrome, a condition with marked short stature and late onset obesity which has overlap with Prader Willi and Russell Silver syndrome.
Professor Temple is an experienced clinical geneticist, having been a Consultant since 1990 and she plays a major-role in developing the Wessex Genetics Service. This serves a population of over 3 million people in Hampshire, Dorset and Wiltshire. She is past President of the Clinical Genetics Society. She is an international speaker on dysmorphology, one of the chairs of the national dysmorphology group, and has led on the development for UK Clinical Genetics services.
Professor Temple is an experienced clinical geneticist, having been a Consultant since 1990 and she plays a major-role in developing the Wessex Genetics Service. This serves a population of over 3 million people in Hampshire, Dorset and Wiltshire. She is past President of the Clinical Genetics Society. She is an international speaker on dysmorphology, one of the chairs of the national dysmorphology group, and has led on the development for UK Clinical Genetics services.
Research Interests
Papers共 290 篇Author StatisticsCo-AuthorSimilar Experts
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Deborah J. G. Mackay,Gabriella Gazdagh,David Monk, Frederic Brioude, Eloise Giabicani,Izabela M. Krzyzewska,Jennifer M. Kalish,Saskia M. Maas,Masayo Kagami, Jasmin Beygo,Tiina Kahre, Jair Tenorio-Castano,
Clinical Epigeneticsno. 1 (2024): 1-19
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 2 (2024): 383-388
Deborah J G Mackay,Gabriella Gazdagh,David Monk, Frederic Brioude, Eloise Giabicani,Izabela M Krzyzewska,Jennifer M Kalish,Saskia M Maas,Masayo Kagami, Jasmin Beygo,Tiina Kahre, Jair Tenorio-Castano,
Clinical epigeneticsno. 1 (2024): 99-99
Deborah J. G. Mackay,Gabriella Gazdagh,David Monk, Frederic Brioude, Eloise Giabicani,Izabela M. Krzyzewska,Jennifer M. Kalish,Saskia M. Maas,Masayo Kagami, Jasmin Beygo,Tiina Kahre, Jair Tenorio-Castano,
Clinical Epigeneticsno. 1 (2024): 1-19
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American journal of medical genetics. Part Ano. 6 (2022): 1896-1903
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#Papers: 285
#Citation: 15465
H-Index: 66
G-Index: 116
Sociability: 8
Diversity: 3
Activity: 24
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