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🐬
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Viewing Ageing Eyes: Diverse Sites of Amyloid Beta Accumulation in the Ageing Mouse Retina and the Up-Regulation of Macrophages
Jaimie Hoh Kam,
E. Lenassi,
G. Jeffery
|
7 |
2010 |
7
🐬
|
|
🦁
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A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
12 auth.
E. Lenassi,
Ajoy Vincent,
Zheng Li,
Z. Saihan,
A. Coffey,
H. Steele-Stallard,
...
A. Moore,
K. Steel,
L. Luxon,
E. Héon,
M. Bitner-Glindzicz,
A. Webster
|
6 |
2015 |
6
🦁
|
|
🐬
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Retinal structure, function, and molecular pathologic features in gyrate atrophy.
P. Sergouniotis,
A. Davidson,
E. Lenassi,
S. Devery,
A. Moore,
A. Webster
|
6 |
2012 |
6
🐬
|
|
🐬
|
Complement component C3 plays a critical role in protecting the aging retina in a murine model of age-related macular degeneration.
Jaimie Hoh Kam,
E. Lenassi,
T. Malik,
M. Pickering,
G. Jeffery
|
6 |
2013 |
6
🐬
|
|
🐜
|
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
15 auth.
P. Sergouniotis,
C. Chakarova,
C. Murphy,
Mirjana M. Becker,
E. Lenassi,
G. Arno,
M. Lek,
D. MacArthur,
S. Bhattacharya,
A. Moore,
...
G. Holder,
A. Robson,
U. Wolfrum,
A. Webster,
V. Plagnol
|
6 |
2014 |
6
🐜
|
|
🦁
|
VEP maturation and visual acuity in infants and preschool children
E. Lenassi,
Katarina Likar,
B. Stirn-Kranjc,
J. Brecelj
|
5 |
2008 |
5
🦁
|
|
🐜
|
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
8 auth.
H. Steele-Stallard,
Polona Le Quesne Stabej,
E. Lenassi,
L. Luxon,
M. Claustres,
A. Roux,
...
A. Webster,
M. Bitner-Glindzicz
|
5 |
2013 |
5
🐜
|
|
🦁
|
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
18 auth.
E. Lenassi,
J. Clayton-Smith,
S. Douzgou,
S. Ramsden,
S. Ingram,
G. Hall,
Claire Hardcastle,
T. Fletcher,
R. Taylor,
J. Ellingford,
...
William Newman,
C. Fenerty,
Vinod Sharma,
I. C. Lloyd,
S. Biswas,
J. Ashworth,
G. Black,
P. Sergouniotis
|
5 |
2019 |
5
🦁
|
|
🐜
|
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
13 auth.
Valentina Cipriani,
Nikolas Pontikos,
G. Arno,
P. Sergouniotis,
E. Lenassi,
P. Thawong,
D. Danis,
M. Michaelides,
A. Webster,
A. Moore,
...
Peter N. Robinson,
Julius O. B. Jacobsen,
D. Smedley
|
5 |
2020 |
5
🐜
|
