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🐜
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Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
12 auth.
T. Rezaie,
A. Child,
R. Hitchings,
G. Brice,
L. Miller,
M. Coca‐Prados,
...
E. Héon,
T. Krupin,
R. Ritch,
D. Kreutzer,
R. Crick,
M. Sarfarazi
|
10 |
2002 |
10
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Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics
17 auth.
A. Cideciyan,
T. Aleman,
S. Boye,
S. Schwartz,
S. Kaushal,
A. J. Roman,
J. Pang,
A. Sumaroka,
E. A. Windsor,
James M. Wilson,
...
T. Flotte,
G. Fishman,
E. Héon,
E. Stone,
B. Byrne,
S. Jacobson,
W. Hauswirth
|
9 |
2008 |
9
🐜
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Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
24 auth.
S. Jacobson,
A. Cideciyan,
R. Ratnakaram,
E. Héon,
S. Schwartz,
A. J. Roman,
M. Peden,
T. Aleman,
S. Boye,
A. Sumaroka,
...
T. Conlon,
R. Calcedo,
J. Pang,
Kirsten E. Erger,
Melani B. Olivares,
Cristina L. Mullins,
M. Świder,
S. Kaushal,
W. Feuer,
A. Iannaccone,
G. Fishman,
E. Stone,
B. Byrne,
W. Hauswirth
|
9 |
2012 |
9
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|
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Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
20 auth.
J. Fingert,
E. Héon,
J. Liebmann,
Tetsuya Yamamoto,
J. Craig,
J. Rait,
K. Kawase,
S. Hoh,
Y. Buys,
J. Dickinson,
...
R. Hockey,
D. Williams-Lyn,
G. Trope,
Y. Kitazawa,
R. Ritch,
D. Mackey,
W. Alward,
V. Sheffield,
V. Sheffield,
E. Stone
|
9 |
1999 |
9
🐜
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|
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Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.
11 auth.
S. Monemi,
G. Spaeth,
A. DaSilva,
S. Popinchalk,
E. Ilitchev,
J. Liebmann,
...
R. Ritch,
E. Héon,
R. Crick,
A. Child,
M. Sarfarazi
|
8 |
2005 |
8
🐜
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🐜
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A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy
16 auth.
E. Stone,
A. Lotery,
F. Munier,
E. Héon,
B. Piguet,
R. Guymer,
K. Vandenburgh,
P. Cousin,
D. Nishimura,
R. Swiderski,
...
G. Silvestri,
D. Mackey,
G. Hageman,
A. Bird,
V. Sheffield,
D. Schorderet
|
8 |
1999 |
8
🐜
|
|
🐜
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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
57 auth.
A. C. Lionel,
Gregory Costain,
N. Monfared,
S. Walker,
M. Reuter,
S. M. Hosseini,
B. Thiruvahindrapuram,
D. Merico,
R. Jobling,
T. Nalpathamkalam,
G. Pellecchia,
W. Sung,
Zhuozhi Wang,
P. Bikangaga,
C. Boelman,
...
M. Carter,
Dawn Cordeiro,
C. Cytrynbaum,
S. Dell,
Priya Dhir,
J. Dowling,
E. Héon,
S. Hewson,
L. Hiraki,
M. Inbar‐Feigenberg,
R. Klatt,
R. Klatt,
J. Kronick,
R. Laxer,
C. Licht,
H. MacDonald,
H. MacDonald,
S. Mercimek‐Andrews,
R. Mendoza-Londono,
T. Piscione,
R. Schneider,
A. Schulze,
E. Silverman,
K. Siriwardena,
O. Snead,
N. Sondheimer,
J. Sutherland,
Ajoy Vincent,
J. Wasserman,
R. Weksberg,
C. Shuman,
C. Carew,
M. Szego,
R. Hayeems,
R. Basran,
D. Stavropoulos,
P. Ray,
S. Bowdin,
M. Meyn,
R. Cohn,
S. Scherer,
C. Marshall
|
8 |
2017 |
8
🐜
|
|
🐜
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Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
45 auth.
S. Sawyer,
T. Hartley,
D. Dyment,
C. Beaulieu,
J. Schwartzentruber,
Amanda C. Smith,
H. Bedford,
G. Bernard,
F. Bernier,
B. Brais,
D. Bulman,
J. W. Chardon,
D. Chitayat,
J. Deladoëy,
B. Fernandez,
...
P. Frosk,
M. Geraghty,
B. Gerull,
W. Gibson,
R. Gow,
G. Graham,
Jane S Green,
E. Héon,
G. Horvath,
A. Innes,
N. Jabado,
Raymond H. Kim,
R. Koenekoop,
Aneal Khan,
O. Lehmann,
R. Mendoza-Londono,
J. Michaud,
S. Nikkel,
L. Penney,
C. Polychronakos,
J. Richer,
G. Rouleau,
M. Samuels,
V. Siu,
O. Suchowersky,
M. Tarnopolsky,
G. Yoon,
Farah R Zahir,
J. Majewski,
K. Boycott
|
8 |
2015 |
8
🐜
|
|
🐜
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Improvement and decline in vision with gene therapy in childhood blindness.
7 auth.
S. Jacobson,
A. Cideciyan,
A. J. Roman,
A. Sumaroka,
S. Schwartz,
E. Héon,
...
W. Hauswirth
|
8 |
2015 |
8
🐜
|
|
🐢
|
Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
8 auth.
A. Vincent,
G. Billingsley,
Y. Buys,
A. Levin,
M. Priston,
G. Trope,
...
D. Williams-Lyn,
E. Héon
|
8 |
2002 |
8
🐢
|
|
🦁
|
VSX1: a gene for posterior polymorphous dystrophy and keratoconus.
16 auth.
E. Héon,
A. Greenberg,
Kelly K. Kopp,
D. Rootman,
A. Vincent,
G. Billingsley,
M. Priston,
Kimberley M. Dorval,
R. L. Chow,
R. Mcinnes,
...
G. Heathcote,
C. Westall,
J. Sutphin,
E. Semina,
R. Bremner,
E. Stone
|
8 |
2002 |
8
🦁
|
|
🐜
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Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
14 auth.
S. Jacobson,
T. Aleman,
A. Cideciyan,
A. Sumaroka,
S. Schwartz,
E. A. Windsor,
E. Traboulsi,
E. Héon,
S. Pittler,
A. Milam,
...
A. Maguire,
K. Palczewski,
E. Stone,
J. Bennett
|
8 |
2005 |
8
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