|
🐜
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Non-syndromic retinitis pigmentosa
9 auth.
S. K. Verbakel,
Ramon A C van Huet,
C. Boon,
A. D. den Hollander,
R. Collin,
C. Klaver,
...
C. Hoyng,
R. Roepman,
Jeroen B. Klevering
|
9 |
2018 |
9
🐜
|
|
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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
54 auth.
E. Otto,
T. Hurd,
R. Airik,
M. Chaki,
Weibin Zhou,
C. Stoetzel,
Suresh B. Patil,
S. Levy,
A. Ghosh,
C. Murga-Zamalloa,
J. van Reeuwijk,
S. Letteboer,
L. Sang,
R. Giles,
Qin Liu,
...
K. Coene,
A. Estrada-Cuzcano,
R. Collin,
H. Mclaughlin,
Susanne Held,
J. M. Kasanuki,
Gokul Ramaswami,
Jinny Conte,
I. Lopez,
J. Washburn,
J. MacDonald,
Jinghua Hu,
Y. Yamashita,
E. Maher,
L. Guay-Woodford,
H. Neumann,
N. Obermüller,
R. Koenekoop,
C. Bergmann,
X. Bei,
R. Lewis,
N. Katsanis,
V. Lopes,
David S. Williams,
R. Lyons,
C. Dang,
Daniela A. Brito,
Mónica Bettencourt Dias,
Xinmin Zhang,
G. Nürnberg,
P. Nürnberg,
E. Pierce,
P. Jackson,
C. Antignac,
S. Saunier,
R. Roepman,
H. Dollfus,
H. Khanna,
F. Hildebrandt
|
8 |
2010 |
8
🐜
|
|
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Next-generation genetic testing for retinitis pigmentosa
23 auth.
K. Neveling,
R. Collin,
C. Gilissen,
Ramon A C van Huet,
L. Visser,
Michael P. Kwint,
Sabine Gijsen,
Marijke N. Zonneveld,
Nienke Wieskamp,
J. de Ligt,
...
Anna Siemiątkowska,
L. Hoefsloot,
Michael F. Buckley,
U. Kellner,
K. Branham,
A. D. den Hollander,
A. Hoischen,
C. Hoyng,
B. J. Klevering,
L. I. van den Born,
J. Veltman,
F. Cremers,
H. Scheffer
|
8 |
2012 |
8
🐜
|
|
🐢
|
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
18 auth.
K. Nikopoulos,
C. Gilissen,
A. Hoischen,
C. Erik van Nouhuys,
F. N. Boonstra,
E. Blokland,
P. Arts,
Nienke Wieskamp,
T. Strom,
C. Ayuso,
...
Mauk A D Tilanus,
Sanne Bouwhuis,
A. Mukhopadhyay,
H. Scheffer,
L. Hoefsloot,
J. Veltman,
F. Cremers,
R. Collin
|
7 |
2010 |
7
🐢
|
|
🐬
|
Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations
F. Cremers,
Winston Lee,
R. Collin,
R. Allikmets
|
7 |
2020 |
7
🐬
|
|
🐜
|
Delivery of oligonucleotide‐based therapeutics: challenges and opportunities
22 auth.
S. Hammond,
Annemieke Aartsma-Rus,
S. Alves,
S. Borgos,
R. Buijsen,
R. Collin,
Giuseppina Covello,
M. Denti,
L. Desviat,
L. Echevarría,
...
C. Foged,
G. Gaina,
A. Garanto,
A. Goyenvalle,
Magdalena Guzowska,
I. Holodnuka,
David R Jones,
S. Krause,
Taavi Lehto,
Marisol Montolio,
W. V. van Roon-Mom,
V. Arechavala-Gomeza
|
7 |
2021 |
7
🐜
|
|
🐜
|
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
22 auth.
A. Thiadens,
A. Thiadens,
A. I. Hollander,
A. D. Hollander,
S. Roosing,
S. Nabuurs,
R. Zekveld-Vroon,
R. Collin,
R. Collin,
E. Baere,
...
R. Koenekoop,
M. Schooneveld,
T. Strom,
J. Lith‐Verhoeven,
A. Lotery,
N. V. Moll-Ramirez,
B. Leroy,
L. I. Born,
C. Hoyng,
F. Cremers,
F. Cremers,
C. Klaver
|
7 |
2009 |
7
🐜
|
|
🐜
|
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
22 auth.
A. Thiadens,
A. Thiadens,
A. I. Hollander,
A. D. Hollander,
S. Roosing,
S. Nabuurs,
R. Zekveld-Vroon,
R. Collin,
R. Collin,
E. Baere,
...
R. Koenekoop,
M. Schooneveld,
T. Strom,
J. Lith‐Verhoeven,
A. Lotery,
N. V. Moll-Ramirez,
B. Leroy,
L. I. Born,
C. Hoyng,
F. Cremers,
F. Cremers,
C. Klaver
|
7 |
2009 |
7
🐜
|
|
🦁
|
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature
26 auth.
R. Collin,
K. Nikopoulos,
Margo Dona,
C. Gilissen,
A. Hoischen,
F. N. Boonstra,
J. Poulter,
H. Kondo,
W. Berger,
C. Toomes,
T. Tahira,
Lucas Mohn,
E. Blokland,
L. Hetterschijt,
Manir Ali,
...
J. Groothuismink,
Lonneke Duijkers,
C. Inglehearn,
Lea Sollfrank,
T. Strom,
E. Uchio,
C. E. van Nouhuys,
H. Kremer,
J. Veltman,
E. van Wijk,
F. Cremers
|
7 |
2013 |
7
🦁
|
|
🐜
|
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
30 auth.
R. Sangermano,
A. Garanto,
Mubeen Khan,
E. H. Runhart,
M. Bauwens,
Nathalie M. Bax,
L. I. Born,
M. I. Khan,
S. S. Cornelis,
J. Verheij,
J. W. Pott,
A. Thiadens,
C. Klaver,
B. Puech,
I. Meunier,
...
Sarah Naessens,
G. Arno,
A. Fakin,
K. Carss,
F. Raymond,
A. Webster,
C. Dhaenens,
H. Stöhr,
F. Grassmann,
B. H. Weber,
C. Hoyng,
E. Baere,
Silvia Albert,
R. Collin,
F. Cremers
|
7 |
2019 |
7
🐜
|
|
🦁
|
Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa.
11 auth.
R. Collin,
K. W. Littink,
B. J. Klevering,
L. I. van den Born,
R. Koenekoop,
Marijke N. Zonneveld,
...
E. Blokland,
T. Strom,
C. Hoyng,
A. D. den Hollander,
F. Cremers
|
7 |
2008 |
7
🦁
|
