|
🐜
|
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing
16 auth.
A. Ma,
J. Grigg,
G. Ho,
I. Prokudin,
E. Farnsworth,
K. Holman,
Anson Cheng,
F. Billson,
F. Martin,
C. Fraser,
...
D. Mowat,
James E H Smith,
J. Christodoulou,
M. Flaherty,
B. Bennetts,
R. Jamieson
|
6 |
2016 |
6
🐜
|
|
🐜
|
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
11 auth.
A. Mallett,
H. McCarthy,
G. Ho,
K. Holman,
E. Farnsworth,
C. Patel,
...
J. Fletcher,
A. Mallawaarachchi,
C. Quinlan,
B. Bennetts,
S. Alexander
|
6 |
2017 |
6
🐜
|
|
🐜
|
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy
16 auth.
K. Kothur,
K. Holman,
E. Farnsworth,
G. Ho,
Michelle S Lorentzos,
C. Troedson,
Sachin Gupta,
R. Webster,
P. Procopis,
M. Menezes,
...
J. Antony,
S. Ardern–Holmes,
Russell C. Dale,
J. Christodoulou,
D. Gill,
B. Bennetts
|
6 |
2018 |
6
🐜
|
|
🐜
|
Revealing hidden genetic diagnoses in the ocular anterior segment disorders
29 auth.
A. Ma,
S. Yousoof,
J. Grigg,
M. Flaherty,
A. Minoche,
M. Cowley,
Benjamin M. Nash,
G. Ho,
Thet Gayagay,
Tiffany Lai,
E. Farnsworth,
E. Hackett,
Katrina Fisk,
Karen Wong,
K. Holman,
...
G. Jenkins,
Anson Cheng,
F. Martin,
Tanya Karaconji,
J. Elder,
Annabelle Enriquez,
Meredith Wilson,
D. Amor,
C. Stutterd,
B. Kamien,
J. Nelson,
M. Dinger,
B. Bennetts,
R. Jamieson
|
5 |
2020 |
5
🐜
|
|
🐜
|
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families
17 auth.
Hope A. Tanudisastro,
K. Holman,
G. Ho,
E. Farnsworth,
Katrina Fisk,
Thet Gayagay,
E. Hackett,
G. Jenkins,
R. Krishnaraj,
Tiffany Lai,
...
Karen Wong,
C. Patel,
A. Mallawaarachchi,
A. Mallett,
B. Bennetts,
S. Alexander,
H. McCarthy
|
4 |
2021 |
4
🐜
|
|
🐜
|
Genome sequencing in congenital cataracts improves diagnostic yield
25 auth.
A. Ma,
J. Grigg,
M. Flaherty,
James E H Smith,
A. Minoche,
M. Cowley,
Benjamin M. Nash,
G. Ho,
Thet Gayagay,
Tiffany Lai,
E. Farnsworth,
E. Hackett,
Katrina Slater,
Karen Wong,
K. Holman,
...
G. Jenkins,
Anson Cheng,
F. Martin,
N. Brown,
Sarah Leighton,
D. Amor,
H. Goel,
M. Dinger,
B. Bennetts,
R. Jamieson
|
3 |
2021 |
3
🐜
|
|
🐜
|
Human iPSC-Derived Retinal Organoids and Retinal Pigment Epithelium for Novel Intronic RPGR Variant Assessment for Therapy Suitability
11 auth.
Fidelle Chahine Karam,
T. Loi,
A. Ma,
Benjamin M. Nash,
J. Grigg,
Darshan Parekh,
...
L. Riley,
E. Farnsworth,
B. Bennetts,
A. Gonzalez-Cordero,
R. Jamieson
|
3 |
2022 |
3
🐜
|
|
🐜
|
Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies
16 auth.
Benjamin M. Nash,
A. Ma,
G. Ho,
E. Farnsworth,
A. Minoche,
M. Cowley,
Christopher Barnett,
Janine M. Smith,
T. Loi,
Karen Wong,
...
L. St. Heaps,
D. Wright,
M. Dinger,
B. Bennetts,
J. Grigg,
R. Jamieson
|
2 |
2022 |
2
🐜
|
