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Bio
My interest is in the molecular genetics of disease in humans and animals. I have a particular interest in inherited cardiovascular and ocular disease and have worked on the human conditions Marfan syndrome and long QT syndrome for a number of years. Currently I collaborate with veterinary scientists to study canine genetic diseases, including mitral valve disease in Cavalier King Charles Spaniels, cardiac arrhythmias in Labrador Retrievers and glaucoma in Border Collies. We are applying techniques of human genetics to the understanding of the inheritance of these conditions in dogs, with the aim to use the information gathered from affected dogs to develop an understanding of parallel conditions in humans. As part of this work we are studying the expression of genes which are critical to the development and functioning of the muscles of the heart and arteries, the skin, bones and adipose tissue. These studies will indicate candidate genes which may be responsible for related genetic diseases in humans and animals.
Research Interests
Papers共 242 篇Author StatisticsCo-AuthorSimilar Experts
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Phillip J Whiley,Ojas V A Dixit, Mukta Das Gupta,Hardip Patel, Guoyan Zhao,Susan J Connor,Kim M Summers,David A Hume,Paul Pavli,Claire L O'Brien
Immunology and cell biologyno. 5 (2025): 473-484
PLoS Geneticsno. 1 (2025): e1011525
Cellular and molecular gastroenterology and hepatologyno. 8 (2025): 101510-101510
Isis Taylor,Omkar L Patkar, Yajun Liu,Sebastien Jacquelin, Ginell Ranpura,Dylan Carter-Cusack,Adam D Ewing, Nyoman D Kurniawan, Mosi Li,Deepali Vasoya, Xin He,Owen Robert Dando,Peter Kind, Giles E Hardingham, Barry Matthew Bradford, Neil A Mabbott,Lucas LeFevre,Clare Pridans,Kim M Summers,Katharine M Irvine,David A Hume
crossref(2025)
NEUROBIOLOGY OF DISEASE (2024)
AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISMno. 2 (2024): E149-E165
Bloodno. Supplement 1 (2024): 1150-1150
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Author Statistics
#Papers: 242
#Citation: 8818
H-Index: 42
G-Index: 87
Sociability: 7
Diversity: 4
Activity: 12
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