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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
19 auth.
H. Arts,
D. Doherty,
S. V. Beersum,
M. Parisi,
S. Letteboer,
N. Gorden,
T. Peters,
Tina Märker,
K. Voesenek,
A. Kartono,
...
H. Ozyurek,
F. Farin,
H. Kroes,
U. Wolfrum,
H. Brunner,
F. Cremers,
I. Glass,
N. Knoers,
R. Roepman
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8 |
2007 |
8
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Disclosure of individual genetic data to research participants: the debate reconsidered.
A. Bredenoord,
H. Kroes,
E. Cuppen,
M. Parker,
J. V. van Delden
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7 |
2011 |
7
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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
18 auth.
K. Coene,
R. Roepman,
D. Doherty,
B. Afroze,
H. Kroes,
S. Letteboer,
L. Ngu,
B. Budny,
E. van Wijk,
N. Gorden,
...
Malika Azhimi,
C. Thauvin-Robinet,
J. Veltman,
M. Boink,
T. Kleefstra,
F. Cremers,
H. van Bokhoven,
A. D. de Brouwer
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7 |
2009 |
7
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Mutations in the human laminin β2 (LAMB2) gene and the associated phenotypic spectrum a
38 auth.
Verena Matejas,
Bernward Hinkes,
Faisal Alkandari,
L. Al-Gazali,
E. Annexstad,
Mehmet B. Aytac,
M. Barrow,
K. Bláhová,
D. Bockenhauer,
H. Cheong,
I. Maruniak-Chudek,
P. Cochat,
J. Dötsch,
P. Gajjar,
Raoul Hennekam,
...
Françoise Janssen,
M. Kagan,
A. Kariminejad,
Markus J. Kemper,
J. Koenig,
J. Kogan,
H. Kroes,
E. Kuwertz-Bröking,
A. Lewanda,
A. Medeira,
J. Muscheites,
P. Niaudet,
M. Pierson,
A. Saggar,
L. Seaver,
M. Suri,
A. Tsygin,
E. Wühl,
A. Zurowska,
S. Uebe,
F. Hildebrandt,
C. Antignac,
M. Zenker
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7 |
2010 |
7
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Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
18 auth.
G. Monroe,
G. Frederix,
Sanne M. C. Savelberg,
T. D. de Vries,
K. Duran,
J. van der Smagt,
P. Terhal,
P. V. van Hasselt,
H. Kroes,
N. Verhoeven-Duif,
...
I. Nijman,
E. Carbo,
K. V. van Gassen,
N. Knoers,
A. Hövels,
M. V. van Haelst,
G. Visser,
G. van Haaften
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7 |
2016 |
7
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A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
9 auth.
R. Hofstra,
Olivier Valdenaire,
Ellen Arch,
J. Osinga,
H. Kroes,
B. Löffler,
...
Ada Hamosh,
C. Meijers,
C. Buys
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7 |
1999 |
7
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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. Matulevičienė,
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
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7 |
2010 |
7
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Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly.
13 auth.
N. Oates,
N. Oates,
J. Vliet,
D. Duffy,
H. Kroes,
N. Martin,
D. Boomsma,
M. Campbell,
M. Coulthard,
M. Coulthard,
...
E. Whitelaw,
E. Whitelaw,
S. Chong
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7 |
2006 |
7
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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
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6 |
2017 |
6
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Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
18 auth.
K. W. Littink,
R. Koenekoop,
L. I. van den Born,
R. Collin,
Luminita Moruz,
J. Veltman,
S. Roosing,
Marijke N. Zonneveld,
A. Omar,
M. Darvish,
...
I. Lopez,
H. Kroes,
M. V. van Genderen,
C. Hoyng,
K. Rohrschneider,
M. V. van Schooneveld,
F. Cremers,
A. D. den Hollander
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6 |
2010 |
6
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