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🐜
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Diagnostic exome sequencing in 266 Dutch patients with visual impairment
25 auth.
L. Haer-Wigman,
W. A. Zelst-Stams,
R. Pfundt,
I. V. D. Born,
C. Klaver,
J. Verheij,
C. Hoyng,
M. Breuning,
C. Boon,
A. Kievit,
Virginie J. M. Verhoeven,
Jan WR Pott,
S. Sallevelt,
J. M. V. Hagen,
A. Plomp,
...
H. Kroes,
Stefan H. Lelieveld,
J. Hehir-Kwa,
Steven Castelein,
M. Nelen,
H. Scheffer,
D. Lugtenberg,
Frans P. M. Cremers,
L. Hoefsloot,
H. Yntema
|
6 |
2017 |
6
🐜
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|
🐢
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Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases
15 auth.
Rebekkah J. Hitti-Malin,
C. Dhaenens,
Daan M. Panneman,
Z. Corradi,
Mubeen Khan,
A. Hollander,
G. J. Farrar,
C. Gilissen,
A. Hoischen,
M. Vorst,
...
Femke Bults,
E. Boonen,
P. Saunders,
S. Roosing,
Frans P. M. Cremers
|
3 |
2022 |
3
🐢
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|
🐢
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Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework
9 auth.
S. S. Cornelis,
M. Bauwens,
L. Haer-Wigman,
M. De Bruyne,
Madhulatha Pantrangi,
Elfriede De Baere,
...
R. Hufnagel,
C. Dhaenens,
Frans P. M. Cremers
|
2 |
2023 |
2
🐢
|
|
🐜
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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
20 auth.
Z. Corradi,
Mubeen Khan,
Rebekkah J. Hitti-Malin,
Ketan Mishra,
Laura Whelan,
S. S. Cornelis,
ABCA4-Study Group,
C. Hoyng,
Kati Kämpjärvi,
C. Klaver,
...
P. Liskova,
Heidi Stohr,
Bernhard H. F. Weber,
Sandro Banfi,
Dror G. Jane Farrar,
J. Zernant,
R. Allikmets,
C. Dhaenens,
Frans P. M. Cremers,
D. Sharon
|
2 |
2023 |
2
🐜
|
|
🐜
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SENIOR–LØKEN SYNDROME
13 auth.
Claudia Yahalom,
Oded Volovelsky,
M. Macarov,
Alaa AlTalbishi,
Yahya Alsweiti,
Nina Schneider,
Mor Hanany,
M. I. Khan,
Frans P. M. Cremers,
Irene Anteby,
...
E. Banin,
D. Sharon,
Samer Khateb
|
2 |
2021 |
2
🐜
|
|
🐢
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Resolving the dark matter of ABCA4 for 1,054 Stargardt disease probands through integrated genomics and transcriptomics
81 auth.
Mubeen Khan,
S. S. Cornelis,
Marta Del Pozo-Valero,
Laura Whelan,
E. H. Runhart,
Ketan Mishra,
Femke Bults,
Yahya Alswaiti,
Alaa AlTabishi,
E. Baere,
Sandro Banfi,
E. Banin,
M. Bauwens,
T. Ben-Yosef,
C. Boon,
...
L. I. Born,
Sabine Defoort,
A. Devos,
A. Dockery,
L. Dudakova,
A. Fakin,
G. J. Farrar,
J. Sallum,
K. Fujinami,
C. Gilissen,
D. Glavač,
Michael B. Gorin,
Jacquie Greenberg,
Takaaki Hayashi,
Y. Hettinga,
A. Hoischen,
C. Hoyng,
K. Hufendiek,
Herbert Jägle,
S. Kamakari,
Maria-Gerasimoula Karali,
Ulrich Kellner,
C. Klaver,
C. Klaver,
B. Kousal,
Tina M. Lamey,
Tina M. Lamey,
Ian M. MacDonald,
A. Matynia,
Terri L. McLaren,
Terri L. McLaren,
Marcela D. Mena,
I. Meunier,
Rianne Miller,
Hadas Newman,
Hadas Newman,
Buhle Ntozini,
M. Ołdak,
Marc Pieterse,
Osvaldo L. Podhajcer,
Bernard Puech,
Raj Ramesar,
Klaus Rüther,
Manar Salameh,
M. V. Salles,
D. Sharon,
F. Simonelli,
Georg Spital,
M. Steehouwer,
J. Szaflik,
Jennifer A. Thompson,
C. Thuillier,
A. Tracewska,
M. V. Zweeden,
Andrea L Vincent,
X. Zanlonghi,
P. Lišková,
Heidi Stöhr,
J. Roach,
J. Roach,
C. Ayuso,
L. Roberts,
Bernard H.F. Weber,
C. Dhaenens,
C. Dhaenens,
Frans P. M. Cremers
|
2 |
2019 |
2
🐢
|
|
🐢
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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes
61 auth.
David J. Cutler,
Rebekkah J. Hitti-Malin,
Daan M. Panneman,
Z. Corradi,
E. Boonen,
G. Astuti,
C. Dhaenens,
Heidi Stöhr,
Bernhard H F Weber,
D. Sharon,
E. Banin,
Maria-Gerasimoula Karali,
Sandro Banfi,
T. Ben-Yosef,
Damjan Glavaˇc,
...
G. J. Farrar,
Carmen Ayuso,
Petra Liskova,
L. Dudakova,
M. Vajter,
M. Ołdak,
J. P. Szaflik,
A. Matynia,
Michael B. Gorin,
Kati Kämpjärvi,
M. Bauwens,
E. Baere,
C. Hoyng,
Catherina H. Z. Li,
C. Klaver,
C. Inglehearn,
K. Fujinami,
Carlo Rivolta,
R. Allikmets,
J. Zernant,
Winston Lee,
Osvaldo L. Podhajcer,
A. Fakin,
J. Sajovic,
Alaa AlTalbishi,
S. Valeina,
G. Tauriņa,
Andrea L Vincent,
Lisa Roberts,
Raj Ramesar,
Giovanna Sartor,
Elena Luppi,
Susan M. Downes,
L. I. Born,
Terri L. McLaren,
J. Roach,
Tina M. Lamey,
Jennifer A. Thompson,
Fred K. Chen,
A. Tracewska,
S. Kamakari,
J. Sallum,
Hanno J. Bolz,
H. Kayserili,
S. Roosing,
Frans P. M. Cremers
|
1 |
2024 |
1
🐢
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