|
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Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.
11 auth.
W. Kloosterman,
V. Guryev,
M. V. van Roosmalen,
K. Duran,
Ewart de Bruijn,
S. Bakker,
...
T. Letteboer,
B. V. van Nesselrooij,
R. Hochstenbach,
M. Poot,
E. Cuppen
|
8 |
2011 |
8
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|
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Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
22 auth.
W. Kloosterman,
Masoumeh Tavakoli-Yaraki,
M. V. van Roosmalen,
E. van Binsbergen,
I. Renkens,
K. Duran,
L. Ballarati,
S. Vergult,
D. Giardino,
K. Hansson,
...
C. Ruivenkamp,
M. Jager,
A. van Haeringen,
E. Ippel,
T. Haaf,
E. Passarge,
R. Hochstenbach,
B. Menten,
L. Larizza,
V. Guryev,
M. Poot,
E. Cuppen
|
7 |
2012 |
7
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|
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Mechanisms of Therapy Resistance in Patient-Derived Xenograft Models of BRCA1-Deficient Breast Cancer.
22 auth.
Petra ter Brugge,
P. Kristel,
Eline van der Burg,
U. Boon,
M. de Maaker,
E. Lips,
L. Mulder,
J. D. de Ruiter,
C. Moutinho,
H. Gevensleben,
...
E. Marangoni,
I. Majewski,
K. Jóźwiak,
W. Kloosterman,
M. V. van Roosmalen,
K. Duran,
F. Hogervorst,
N. Turner,
M. Esteller,
E. Cuppen,
J. Wesseling,
J. Jonkers
|
7 |
2016 |
7
🐜
|
|
🐜
|
Dominant missense mutations in ABCC9 cause Cantú syndrome
31 auth.
M. Harakalova,
J. J. T. V. Harssel,
P. Terhal,
Stef van Lieshout,
K. Duran,
I. Renkens,
D. Amor,
L. Wilson,
E. Kirk,
C. Turner,
D. Shears,
S. García-Miñaúr,
M. Lees,
A. Ross,
H. Venselaar,
...
G. Vriend,
H. Takanari,
M. Rook,
M. A. Heyden,
F. Asselbergs,
H. Breur,
M. Swinkels,
I. Scurr,
S. Smithson,
N. Knoers,
J. V. D. Smagt,
I. Nijman,
W. Kloosterman,
M. Haelst,
G. Haaften,
E. Cuppen
|
7 |
2012 |
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
|
7 |
2016 |
7
🐜
|
|
🐜
|
Increased Activity of Hypoxia-Inducible Factor 1 Is Associated with Early Embryonic Lethality in Commd1 Null Mice
8 auth.
B. van de Sluis,
P. Muller,
K. Duran,
Amy Chen,
A. Groot,
L. Klomp,
...
Paul P. Liu,
C. Wijmenga
|
7 |
2007 |
7
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|
|
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Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency
38 auth.
Jorik M. van Rijn,
R. Ardy,
Z. Kuloğlu,
Bettina Härter,
Désirée Y. van Haaften-Visser,
H. P. van der Doef,
Marliek van Hoesel,
A. Kansu,
A. V. van Vugt,
M. Thian,
F. Kokke,
A. Krolo,
M. K. Başaran,
N. Kaya,
A. Ü. Aksu,
...
B. Dalgıç,
F. Ozçay,
Z. Barış,
R. Kain,
E. Stigter,
K. Lichtenbelt,
Maarten Massink,
K. Duran,
J. Verheij,
D. Lugtenberg,
P. Nikkels,
H. G. Brouwer,
H. Verkade,
R. Scheenstra,
B. Spee,
E. Nieuwenhuis,
P. Coffer,
A. Janecke,
G. van Haaften,
R. Houwen,
T. Müller,
S. Middendorp,
K. Boztug
|
6 |
2018 |
6
🐜
|
|
🐜
|
Characterization of COMMD protein–protein interactions in NF-κB signalling
8 auth.
P. D. Bie,
B. Sluis,
E. Burstein,
K. Duran,
R. Berger,
C. Duckett,
...
C. Wijmenga,
L. Klomp
|
6 |
2006 |
6
🐜
|
|
🐜
|
A microarray screen for novel candidate genes in coeliac disease pathogenesis
12 auth.
B. Diosdado,
M. Wapenaar,
L. Franke,
K. Duran,
M. J. Goerres,
M. Hadithi,
...
J. Crusius,
J. Meijer,
D. Duggan,
C. Mulder,
F. Holstege,
C. Wijmenga
|
6 |
2004 |
6
🐜
|
|
🐜
|
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
24 auth.
N. Lipstein,
N. Verhoeven-Duif,
Francesco Michelassi,
Nathaniel T Calloway,
P. V. van Hasselt,
Katarzyna Pieńkowska,
G. van Haaften,
M. V. van Haelst,
R. van Empelen,
I. Cuppen,
...
H. V. van Teeseling,
Annemieke M. V. Evelein,
J. Vorstman,
S. Thoms,
O. Jahn,
K. Duran,
G. Monroe,
T. A. Ryan,
H. Taschenberger,
J. Dittman,
J. Rhee,
G. Visser,
J. Jans,
N. Brose
|
6 |
2017 |
6
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