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个人简介
Graeme lead the BRC to develop an impressive track record of translating scientific breakthroughs into clinical practice.2012-14 Graeme was the inaugural director of the Institute of Human Development, within the Faculty of Medical and Human Sciences at The University of Manchester helping to bring together research in the areas of genetic medicine, specialist senses, diabetes & endocrinology, maternal and fetal health and paediatrics.
Graeme’s major research interest is the investigation of genetic disorders associated with visual disability. His overaching aims are to improve the diagnosis, management and treatment of such conditions. This work initially focused on the characterisation of genes and proteins underlying inherited developmental disorders such as anophthalmia, cataract and retinal degenerative disorders. However most recently Graeme has overseen a scientific team that provides genetic testing for inherited opthalmic disease. This includes retinoblastoma, the commonest ocular malignancy of childhood. Furthermore, through funding provided by the Department of Health and the British Retinitis Pigmentosa Society his team has developed a national genetic testing service for inherited retinal diseases. These include several forms of retinitis pigmentosa, cone-rod dystrophy as well as a number of macular dystrophies.
Graeme’s major research interest is the investigation of genetic disorders associated with visual disability. His overaching aims are to improve the diagnosis, management and treatment of such conditions. This work initially focused on the characterisation of genes and proteins underlying inherited developmental disorders such as anophthalmia, cataract and retinal degenerative disorders. However most recently Graeme has overseen a scientific team that provides genetic testing for inherited opthalmic disease. This includes retinoblastoma, the commonest ocular malignancy of childhood. Furthermore, through funding provided by the Department of Health and the British Retinitis Pigmentosa Society his team has developed a national genetic testing service for inherited retinal diseases. These include several forms of retinitis pigmentosa, cone-rod dystrophy as well as a number of macular dystrophies.
研究兴趣
论文共 384 篇作者统计合作学者相似作者
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Claire E. L. Smith,Virginie Laugel-Haushalter, Ummey Hany,Sunayna Best,Rachel L. Taylor,James A. Poulter,Saskia B. Wortmann,Rene G. Feichtinger,Johannes A. Mayr,Suhaila Al Bahlani,Georgios Nikolopoulos, Alice Rigby,Graeme C. Black,Christopher M. Watson,Sahar Mansour,Chris F. Inglehearn,Alan J. Mighell,Agnes Bloch-Zupan
JOURNAL OF MEDICAL GENETICSno. 7 (2024): 689-698
CLINICAL GENETICS (2024)
medrxiv(2023)
Frontiers in cell and developmental biology (2023)
Retina (Philadelphia, Pa.)no. 9 (2023): e53-e53
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JOURNAL OF MEDICAL GENETICSno. 12 (2023): 1245-1249
David J. Green,Vincent Michaud,Eulalie Lasseaux,Claudio Plaisant, UK Biobank Eye and Vision Consortium,Tomas Fitzgerald,Ewan Birney,Graeme C. Black,Benoît Arveiler,Panagiotis I. Sergouniotis
medrxiv(2023)
JOURNAL OF INTERNATIONAL ADVANCED OTOLOGYno. 6 (2023): 454-460
Clinical geneticsno. 4 (2023): 418-426
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作者统计
#Papers: 383
#Citation: 18621
H-Index: 65
G-Index: 128
Sociability: 8
Diversity: 3
Activity: 73
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