|
๐
|
Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes
19 auth.
F. Coppieters,
I. Casteels,
F. Meire,
S. De Jaegere,
S. Hooghe,
N. van Regemorter,
H. Van Esch,
A. Matuleviฤienฤ,
L. Nunes,
V. Meersschaut,
...
S. Walraedt,
L. Standaert,
P. Coucke,
H. Hoeben,
H. Kroes,
J. Vande Walle,
T. de Ravel,
B. Leroy,
E. de Baere
|
7 |
2010 |
7
๐
|
|
๐
|
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 lโArgentiรจre,
Y. Sznajer,
M. Vuylsteke,
S. Kohl,
B. Wissinger,
Timothy J. Cherry,
R. Collin,
F. Cremers,
B. Leroy,
E. de Baere
|
7 |
2019 |
7
๐
|
|
๐
|
Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.
23 auth.
B. Dโhaene,
F. Meire,
I. Claerhout,
H. Kroes,
A. Plomp,
Y. Arens,
T. de Ravel,
I. Casteels,
S. De Jaegere,
S. Hooghe,
...
W. Wuyts,
J. van den Ende,
F. Roulez,
H. Veenstra-Knol,
R. Oldenburg,
J. Giltay,
J. Verheij,
J. D. de Faber,
B. Menten,
A. De Paepe,
P. Kestelyn,
B. Leroy,
E. de Baere
|
6 |
2011 |
6
๐
|
|
๐
|
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
๐
|
|
๐
|
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
๐
|
|
๐
|
Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome
35 auth.
D. Beysen,
S. De Jaegere,
D. Amor,
P. Bouchard,
S. ChristinโMaitre,
M. Fellous,
P. Touraine,
A. Grix,
R. Hennekam,
F. Meire,
N. Oyen,
L. Wilson,
D. Barel,
J. Clayton-Smith,
T. de Ravel,
...
C. Decock,
P. Delbeke,
R. Ensenauer,
F. Ebinger,
G. GillessenโKaesbach,
Y. Hendriks,
V. Kimonis,
R. Laframboise,
P. Laissue,
K. Leppig,
B. Leroy,
David T. Miller,
D. Mowat,
L. Neumann,
A. Plomp,
N. van Regemorter,
D. Wieczorek,
R. Veitia,
A. De Paepe,
E. de Baere
|
5 |
2008 |
5
๐
|
|
๐ฌ
|
Evidence for two isoforms of the endoplasmic-reticulum Ca2+ pump in pig smooth muscle.
J. Eggermont,
F. Wuytack,
S. De Jaegere,
L. Nelles,
R. Casteels
|
5 |
1989 |
5
๐ฌ
|
|
๐
|
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families
15 auth.
C. van Cauwenbergh,
F. Coppieters,
D. Roels,
S. De Jaegere,
Helena Flipts,
J. de Zaeytijd,
S. Walraedt,
Charlotte Claes,
E. Fransen,
G. Van Camp,
...
F. Depasse,
I. Casteels,
T. de Ravel,
B. Leroy,
E. de Baere
|
5 |
2017 |
5
๐
|
|
๐
|
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
12 auth.
C. van Cauwenbergh,
K. Van Schil,
Robrecht Cannoodt,
M. Bauwens,
Thalia Van Laethem,
S. De Jaegere,
...
W. Steyaert,
T. Sante,
B. Menten,
B. Leroy,
F. Coppieters,
E. de Baere
|
5 |
2016 |
5
๐
|
