|
π
|
Diagnostic exome sequencing in persons with severe intellectual disability.
17 auth.
J. de Ligt,
M. Willemsen,
B. V. van Bon,
T. Kleefstra,
H. Yntema,
Thessa Kroes,
A. V. Vulto-van Silfhout,
D. Koolen,
P. D. de Vries,
C. Gilissen,
...
Marisol Del Rosario,
A. Hoischen,
H. Scheffer,
B. D. de Vries,
H. Brunner,
J. Veltman,
L. Vissers
|
10 |
2012 |
10
π
|
|
π
|
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders
21 auth.
R. Pfundt,
Marisol Del Rosario,
L. Vissers,
Michael P. Kwint,
I. Janssen,
N. de Leeuw,
H. Yntema,
M. Nelen,
D. Lugtenberg,
E. Kamsteeg,
...
Nienke Wieskamp,
A. Stegmann,
S. Stevens,
R. Rodenburg,
A. Simons,
A. Mensenkamp,
T. Rinne,
C. Gilissen,
H. Scheffer,
J. Veltman,
J. Hehir-Kwa
|
7 |
2016 |
7
π
|
|
π
|
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing
31 auth.
J. Schuurs-Hoeijmakers,
A. V. Vulto-van Silfhout,
L. Vissers,
Ilse van de Vondervoort,
B. V. van Bon,
J. de Ligt,
C. Gilissen,
J. Hehir-Kwa,
K. Neveling,
Marisol Del Rosario,
Gausiya Hira,
S. Reitano,
Aurelio Vitello,
P. Failla,
D. Greco,
...
M. Fichera,
O. Galesi,
T. Kleefstra,
M. Greally,
C. Ockeloen,
M. Willemsen,
E. Bongers,
I. Janssen,
R. Pfundt,
J. Veltman,
C. Romano,
M. Willemsen,
H. van Bokhoven,
H. Brunner,
B. D. de Vries,
A. D. de Brouwer
|
6 |
2013 |
6
π
|
|
π
|
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
17 auth.
L. Vissers,
E. Lausch,
S. Unger,
A. CamposβXavier,
C. Gilissen,
A. Rossi,
Marisol Del Rosario,
H. Venselaar,
U. Knoll,
S. Nampoothiri,
...
M. Nair,
J. Spranger,
H. Brunner,
L. BonafΔ,
J. Veltman,
B. Zabel,
A. Superti-Furga
|
6 |
2011 |
6
π
|
|
π
|
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration
16 auth.
M. R. Duvvari,
Johannes P. H. van de Ven,
M. Geerlings,
Nicole T. M. Saksens,
Bjorn Bakker,
Arjen Henkes,
K. Neveling,
Marisol Del Rosario,
D. Westra,
L. P. Van den Heuvel,
...
T. Schick,
S. Fauser,
C. Boon,
C. Hoyng,
E. D. de Jong,
A. D. den Hollander
|
4 |
2016 |
4
π
|
