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A SWI/SNF related autism syndrome caused by de novo mutations in ADNP
25 auth.
C. Helsmoortel,
A. V. Vulto-van Silfhout,
Bradley P. Coe,
G. Vandeweyer,
Liesbeth Rooms,
J. van den Ende,
J. Schuurs-Hoeijmakers,
Carlo L. Marcelis,
M. Willemsen,
L. Vissers,
H. Yntema,
Madhura Bakshi,
Meredith Wilson,
Kali T. Witherspoon,
H. Malmgren,
...
A. Nordgren,
G. Annéren,
M. Fichera,
P. Bosco,
C. Romano,
B. D. de Vries,
T. Kleefstra,
R. Kooy,
Evan E. Eichler,
N. van der Aa
|
8 |
2014 |
8
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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
50 auth.
D. Koolen,
Andrew J. Sharp,
Andrew J. Sharp,
Jane A. Hurst,
H. Firth,
S. Knight,
A. Goldenberg,
P. Saugier-Veber,
R. Pfundt,
L. Vissers,
A. Destrėe,
B. Grisart,
Liesbeth Rooms,
N. Aa,
Michael Field,
...
A. Hackett,
Kathleen Bell,
Małgorzata J. M. Nowaczyk,
G. M. Mancini,
P. Poddighe,
C. Schwartz,
Emilio Rossi,
M. Gregori,
L. Antonacci-Fulton,
M. McLellan,
J. Garrett,
M. Wiechert,
T. Miner,
Seth D. Crosby,
R. Ciccone,
L. Willatt,
Anita Rauch,
Martin Zenker,
S. Aradhya,
Melanie A. Manning,
T. Strom,
J. Wagenstaller,
A. Krepischi-Santos,
A. Vianna-Morgante,
Carla Rosenberg,
S. Price,
H. Stewart,
C. Shaw-Smith,
H. Brunner,
A O Wilkie,
J. Veltman,
O. Zuffardi,
Evan E. Eichler,
Evan E. Eichler,
B. Vries
|
7 |
2008 |
7
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Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
30 auth.
N. van der Aa,
Liesbeth Rooms,
G. Vandeweyer,
J. van den Ende,
E. Reyniers,
M. Fichera,
C. Romano,
B. Delle Chiaie,
G. Mortier,
B. Menten,
A. Destrėe,
I. Maystadt,
K. Männik,
A. Kurg,
T. Reimand,
...
D. McMullan,
C. Oley,
L. Brueton,
E. Bongers,
B. V. van Bon,
Rolph Pfund,
S. Jacquemont,
A. Ferrarini,
D. Martinet,
C. Schrander‐Stumpel,
A. Stegmann,
S. Frints,
B. D. de Vries,
B. Ceulemans,
R. Kooy
|
7 |
2009 |
7
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|
|
🐢
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Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.
28 auth.
Z. Iqbal,
G. Vandeweyer,
M. V. D. Voet,
A. M. Waryah,
A. M. Waryah,
A. M. Waryah,
M. Zahoor,
M. Zahoor,
Judith Besseling,
L. T. Roca,
A. V. Silfhout,
B. Nijhof,
Jamie M. Kramer,
N. Aa,
M. Ansar,
...
M. Ansar,
H. Peeters,
C. Helsmoortel,
C. Gilissen,
L. Vissers,
J. Veltman,
A. Brouwer,
R. Kooy,
S. Riazuddin,
S. Riazuddin,
A. Schenck,
H. Bokhoven,
Liesbeth Rooms
|
7 |
2013 |
7
🐢
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🦁
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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation‐dependent probe amplification (MLPA)
9 auth.
Liesbeth Rooms,
E. Reyniers,
R. Luijk,
Stefaan Scheers,
J. Wauters,
B. Ceulemans,
...
J. van den Ende,
Y. van Bever,
R. Kooy
|
6 |
2004 |
6
🦁
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🐜
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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis
31 auth.
B. V. Bon,
D. Koolen,
Renato Borgatti,
A. Magee,
S. García-Miñaúr,
Liesbeth Rooms,
Willie Reardon,
M. Zollino,
M. Bonaglia,
M. Gregori,
F. Novara,
Rita Grasso,
R. Ciccone,
H. A. Duyvenvoorde,
A. Aalbers,
...
R. Guerrini,
E. Fazzi,
W. Nillesen,
S. McCullough,
S. Kant,
Carlo M. Marcelis,
R. Pfundt,
N. Leeuw,
Dominique Smeets,
E. Sistermans,
Jan M. Wit,
B.C.J. Hamel,
H. Brunner,
F. Kooy,
O. Zuffardi,
L.B.A. de Vries
|
6 |
2008 |
6
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|
|
🐜
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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism
20 auth.
G. Vandeweyer,
C. Helsmoortel,
Anke Van Dijck,
A. V. Vulto-van Silfhout,
Bradley P. Coe,
R. Bernier,
J. Gerdts,
Liesbeth Rooms,
J. van den Ende,
Madhura Bakshi,
...
Meredith Wilson,
A. Nordgren,
L. Hendon,
Omar Abdulrahman,
C. Romano,
B. D. de Vries,
T. Kleefstra,
E. Eichler,
N. van der Aa,
R. Kooy
|
6 |
2014 |
6
🐜
|
|
🦁
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Multiplex ligation‐dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics
15 auth.
Liesbeth Rooms,
E. Reyniers,
W. Wuyts,
K. Storm,
R. Luijk,
Stefaan Scheers,
Jan Wauters,
J. Ende,
Martine Biervliet,
François Eyskens,
...
G. V. Goethem,
A. Laridon,
B. Ceulemans,
Winnie Courtens,
R. Kooy
|
6 |
2005 |
6
🦁
|
|
🦁
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Subtelomeric rearrangements in the mentally retarded: A comparison of detection methods
Liesbeth Rooms,
E. Reyniers,
R. Kooy
|
6 |
2005 |
6
🦁
|
|
🐜
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Impaired GABAergic inhibition in the hippocampus of Fmr1 knockout mice
9 auth.
V. Sabanov,
S. Braat,
L. D’Andrea,
R. Willemsen,
S. Zeidler,
Liesbeth Rooms,
...
C. Bagni,
Frank R. Kooy,
D. Balschun
|
6 |
2017 |
6
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