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G

Graeme C. Black

University of Manchester
H指数:77
被引数:2.4万

个人简介

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教育背景

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工作经历

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荣誉奖项

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Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration

视锥凹形态的遗传学见解及其与色素沉着和年龄相关性黄斑变性的关联

Communications Biology
IF5.1
2026-11-030
OAAI
David J. Green; Thomas H. Julian; David Romero-Bascones; Sofia Torchia; Heer N. V. Joisher; Unai Ayala; Maitane Barrenechea; Jay E. Self; Graeme C. Black; Tomas Fitzgerald; Ewan Birney; Constance L. Cepko; Joseph Carroll; Panagiotis I. Sergouniotis
The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease

ADAMTSL4相关眼病的表型和基因型特征

Clinical Genetics
IF2.3
2025-11-010
OAAI
Williams, Katie M.; Berger, Wolfgang; Koller, Samuel; Pfiffner, Fatma Kivrak; Maspoli, Alessandro; Gloggnitzer, Jiradet; Bruhwiler, Britta V. T.; Stathopoulos, Christina; Munier, Francis; Allen, Louise; Iosifidis, Christos; Black, Graeme C.; Sergouniotis, Panagiotis I.; Lloyd, Ian Christopher; Gerth-kahlert, Christina
Inter-chromosomal insertions at Xq27.1 associated with retinal dystrophy induce dysregulation of LINC00632 and CDR1as/ciRS-7
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2025-01-010
OAAI
Gardner, Jessica C.; Jovanovic, Katarina; Ottaviani, Daniele; Melo, Uira Souto; Jackson, Joshua; Guarascio, Rosellina; Ziaka, Kalliopi; Hau, Kwan-Leong; Lane, Amelia; Taylor, Rachel L.; Chai, Niuzheng; Gkertsou, Christina; Fernando, Owen; Piwecka, Monika; Georgiou, Michalis; Mundlos, Stefan; Black, Graeme C.; Moore, Anthony T.; Michaelides, Michel; Cheetham, Michael E.; Hardcastle, Alison J.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
JOURNAL OF MEDICAL GENETICS
IF3.7
2024-03-081
OAAI
Smith, Claire E. L.; Laugel-Haushalter, Virginie; Hany, Ummey; Best, Sunayna; Taylor, Rachel L.; Poulter, James A.; Wortmann, Saskia B.; Feichtinger, Rene G.; Mayr, Johannes A.; Al Bahlani, Suhaila; Nikolopoulos, Georgios; Rigby, Alice; Black, Graeme C.; Watson, Christopher M.; Mansour, Sahar; Inglehearn, Chris F.; Mighell, Alan J.; Bloch-Zupan, Agnes
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-01-204
OAAI
Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Black, Graeme C.; Ellingford, Jamie M.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies

多学科团队指导的全基因组测序分析揭示了分子未确诊的遗传性视网膜营养不良的致病非编码变异

HUMAN MOLECULAR GENETICS
IF3.2
2022-09-0912
OAAI
Varela, Malena Daich; Bellingham, James; Motta, Fabiana; Jurkute, Neringa; Ellingford, Jamie M.; Quinodoz, Mathieu; Oprych, Kathryn; Niblock, Michael; Janeschitz-Kriegl, Lucas; Kaminska, Karolina; Cancellieri, Francesca; Scholl, Hendrik P. N.; Lenassi, Eva; Schiff, Elena; Knight, Hannah; Black, Graeme; Rivolta, Carlo; Cheetham, Michael E.; Michaelides, Michel; Mahroo, Omar A.; Moore, Anthony T.; Webster, Andrew R.; Arno, Gavin

研究方向

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J
Jamie M. Ellingford
H 指数:27论文数:110被引数:2,855
P
Panagiotis I. Sergouniotis
H 指数:43论文数:258被引数:7,649
S
Simon Ramsden
H 指数:34论文数:171被引数:5,153
J
Jill Urquhart
H 指数:40论文数:97被引数:5,445
F
Forbes Manson
H 指数:32论文数:109被引数:4,076
A
Andrew R. Webster
H 指数:76论文数:658被引数:2.2万
J
Jill Clayton‐Smith
H 指数:93论文数:376被引数:2.7万
G
Georgina Hall
H 指数:36论文数:168被引数:4,398
S
Sanjeev S. Bhaskar
H 指数:35论文数:108被引数:6,134
R
Rachel L. Taylor
H 指数:22论文数:56被引数:1,784