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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
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
30 auth.
M. Bauwens,
A. Garanto,
R. Sangermano,
Sarah Naessens,
N. Weisschuh,
J. de Zaeytijd,
Mubeen Khan,
F. Sadler,
I. Balikova,
C. van Cauwenbergh,
Toon Rosseel,
Jim Bauwens,
K. De Leeneer,
S. De Jaegere,
Thalia Van Laethem,
...
Meindert De Vries,
K. Carss,
G. Arno,
A. Fakin,
A. Webster,
Thomy J. L. de Ravel de l’Argentière,
Y. Sznajer,
M. Vuylsteke,
S. Kohl,
B. Wissinger,
Timothy J. Cherry,
R. Collin,
F. Cremers,
B. Leroy,
E. de Baere
|
7 |
2019 |
7
🦁
|
|
🐜
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Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease.
13 auth.
R. Sangermano,
Nathalie M. Bax,
M. Bauwens,
L. I. van den Born,
E. de Baere,
A. Garanto,
R. Collin,
Angelique Goercharn-Ramlal,
Anke HA den Engelsman-van Dijk,
K. Rohrschneider,
...
C. Hoyng,
F. Cremers,
Silvia Albert
|
6 |
2016 |
6
🐜
|
|
🐜
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Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics
75 auth.
Mubeen Khan,
S. S. Cornelis,
M. Del Pozo-Valero,
Laura Whelan,
E. H. Runhart,
Ketan Mishra,
Femke Bults,
Yahya Alswaiti,
Alaa AlTabishi,
E. de Baere,
S. Banfi,
E. Banin,
M. Bauwens,
T. Ben-Yosef,
C. Boon,
...
L. I. van den Born,
S. Defoort,
A. Devos,
A. Dockery,
L. Dudakova,
A. Fakin,
G. Farrar,
J. F. Ferraz Sallum,
K. Fujinami,
C. Gilissen,
D. Glavač,
M. Gorin,
J. Greenberg,
Takaaki Hayashi,
Y. Hettinga,
A. Hoischen,
C. Hoyng,
K. Hufendiek,
H. Jägle,
S. Kamakari,
M. Karali,
U. Kellner,
C. Klaver,
B. Kousal,
Tina M. Lamey,
I. MacDonald,
A. Matynia,
Terri L. McLaren,
M. Mena,
I. Meunier,
Rianne Miller,
Hadas Newman,
Buhle Ntozini,
M. Ołdak,
Marc Pieterse,
O. Podhajcer,
B. Puech,
R. Ramesar,
K. Rüther,
Manar Salameh,
M. V. Salles,
D. Sharon,
F. Simonelli,
G. Spital,
M. Steehouwer,
J. Szaflik,
Jennifer A. Thompson,
C. Thuillier,
A. Tracewska,
M. van Zweeden,
A. Vincent,
X. Zanlonghi,
P. Lišková,
H. Stöhr,
J. D. De Roach,
C. Ayuso,
L. Roberts,
B. Weber,
C. Dhaenens,
F. Cremers
|
6 |
2020 |
6
🐜
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|
🐜
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Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease
11 auth.
Timothy J. Cherry,
Marty G. Yang,
D. Harmin,
Peter Tao,
A. Timms,
M. Bauwens,
...
R. Allikmets,
Evan M. Jones,
Rui Chen,
E. de Baere,
M. Greenberg
|
6 |
2020 |
6
🐜
|
|
🐜
|
Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
15 auth.
F. Coppieters,
K. V. Schil,
M. Bauwens,
H. Verdin,
A. Jaegher,
D. Syx,
T. Sante,
Steve Lefever,
N. Abdelmoula,
F. Depasse,
...
I. Casteels,
T. Ravel,
F. Meire,
B. Leroy,
E. Baere
|
6 |
2014 |
6
🐜
|
|
🦁
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An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients
14 auth.
M. Bauwens,
J. de Zaeytijd,
N. Weisschuh,
S. Kohl,
F. Meire,
K. Dahan,
F. Depasse,
S. De Jaegere,
T. de Ravel,
M. de Rademaeker,
...
B. Loeys,
F. Coppieters,
B. Leroy,
E. de Baere
|
6 |
2015 |
6
🦁
|
|
🐜
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
27 auth.
K. Van Schil,
Sarah Naessens,
S. Van de Sompele,
M. Carron,
A. Aslanidis,
C. van Cauwenbergh,
Anja Kathrin Mayer,
M. Van Heetvelde,
M. Bauwens,
H. Verdin,
F. Coppieters,
M. Greenberg,
Marty G. Yang,
M. Karlstetter,
T. Langmann,
...
K. De Preter,
S. Kohl,
Timothy J. Cherry,
B. Leroy,
James R Claudia Max Petra Sarah Sally Lupski Carvalho van Min Klous De Jaegere Hooghe,
J. Lupski,
C. Carvalho,
M. van Min,
P. Klous,
S. De Jaegere,
S. Hooghe,
E. de Baere
|
5 |
2017 |
5
🐜
|
|
🐜
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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
25 auth.
F. Coppieters,
Giulia Ascari,
Katharina Dannhausen,
K. Nikopoulos,
F. Peelman,
M. Karlstetter,
Mingchu Xu,
C. Brachet,
I. Meunier,
M. Tsilimbaris,
C. Tsika,
Styliani V. Blazaki,
S. Vergult,
P. Farinelli,
Thalia Van Laethem,
...
M. Bauwens,
M. De Bruyne,
Rui Chen,
T. Langmann,
R. Sui,
F. Meire,
C. Rivolta,
C. Hamel,
B. Leroy,
E. de Baere
|
5 |
2016 |
5
🐜
|
