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Ege Sackey
Observed names:
Ege Ozkan,
Sackey, Ege
Observed institutions:
St George's, University of London,
St George’s University Hospitals NHS Foundation Trust,
City St George's, University of London
ORCID:
0000-0001-5477-0965
Observed ORCID:
0000-0001-5477-0965
OpenAlex ID:
A5062902274
Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease
2013
·
Reza Sharifi
, Rosa Morra
, et al.
·
The EMBO Journal
·
320
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
2023
·
Daniel Greene
, Daniela Pirri
, et al.
·
Nature Medicine
·
83
PDF
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
2019
·
Matias Wagner
, Daniel P. S. Osborn
, et al.
·
Nature Communications
·
53
PDF
Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort
2022
·
Dionysios Grigoriadis
, Ege Sackey
, et al.
·
PLoS ONE
·
42
PDF
Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors
2022
·
Yann C. Klimentidis
, Zhao Chen
, et al.
·
European Journal of Human Genetics
·
25
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma
2020
·
Naushin H. Waseem
, Sancy Low
, et al.
·
PLoS Genetics
·
23
PDF
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts
2021
·
Sahar Mansour
, Katherine S Josephs
, et al.
·
Journal of Medical Genetics
·
18
PDF
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
2021
·
Silvia Martin-Almedina
, Kazim Ogmen
, et al.
·
Genetics in Medicine
·
14
PDF
Insights into KIF11 pathogenesis in microcephaly-lymphedema-chorioretinopathy syndrome from a lymphatic perspective
2025
·
Kazim Ogmen
, Sara E. Dobbins
, et al.
·
JCI Insight
·
7
PDF
PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescue
2025
·
Melanie J. Ludlow
, Oleksandr V. Povstyan
, et al.
·
iScience
·
4
Loss of ERG function causes lymphatic vessel malformations and primary lymphoedema
2025
·
Daniela Pirri
, Hannah Maude
, et al.
·
medRxiv
·
3
Insights into KIF11 pathogenesis in microcephaly-lymphedema-chorioretinopathy syndrome from a lymphatic perspective
2026
·
Kazim Ogmen
, Sara E. Dobbins
, et al.
·
Newcastle University ePrints (Newcastle Univesity)
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
2023
·
Daniel Greene
, Daniela Pirri
, et al.
·
Newcastle University ePrints (Newcastle Univesity)
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
2021
·
Silvia Martin-Almedina
, Kazim Ogmen
, et al.
·
Genetics in Medicine
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma
2020
·
Naushin H. Waseem
, Sancy Low
, et al.
·
Newcastle University ePrints (Newcastle Univesity)
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Works count:
16
Citation count:
592
H-index:
8
I10-index:
8
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