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Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
77 auth.
S. Jin,
Sara A. Lewis,
S. Bakhtiari,
Xue Zeng,
M. Sierant,
S. Shetty,
Sandra M. Nordlie,
Auréliane Elie,
M. Corbett,
Bethany Y. Norton,
C. V. van Eyk,
S. Haider,
Brandon S. Guida,
H. Magee,
James Liu,
...
S. Pastore,
J. Vincent,
Janice E. Brunstrom-Hernandez,
Antigone Papavasileiou,
M. Fahey,
J. Berry,
K. Harper,
Chongchen Zhou,
Junhui Zhang,
Boyang Li,
Hongyu Zhao,
Jennifer Heim,
D. L. Webber,
M. Frank,
Lei Xia,
Yiran Xu,
Dengna Zhu,
Bohao Zhang,
A. Sheth,
James R. Knight,
C. Castaldi,
Irina R. Tikhonova,
F. López-Giráldez,
B. Keren,
S. Whalen,
J. Buratti,
D. Doummar,
M. Cho,
K. Retterer,
F. Millan,
Yangong Wang,
J. Waugh,
Lance H Rodan,
Julie S. Cohen,
A. Fatemi,
A. Lin,
J. Phillips,
T. Feyma,
S. MacLennan,
Spencer Vaughan,
Kylie E. Crompton,
S. Reid,
D. Reddihough,
Qing Shang,
Chao Gao,
I. Novak,
N. Badawi,
Yana A. Wilson,
S. Mcintyre,
S. Mane,
Xiaoyang Wang,
D. Amor,
Daniela C. Zarnescu,
Q. Lu,
Qinghe Xing,
Changlian Zhu,
K. Bilguvar,
S. Padilla-Lopez,
R. Lifton,
J. Gécz,
A. Maclennan,
M. Kruer
|
6 |
2020 |
6
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Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy
14 auth.
M. Corbett,
C. V. van Eyk,
D. L. Webber,
S. Bent,
Morgan Newman,
K. Harper,
J. Berry,
D. Azmanov,
K. Woodward,
A. Gardner,
...
J. Slee,
L. Pérez-Jurado,
A. Maclennan,
J. Gécz
|
5 |
2018 |
5
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Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism
8 auth.
C. V. van Eyk,
M. Corbett,
A. Gardner,
B. V. van Bon,
J. Broadbent,
K. Harper,
...
A. Maclennan,
J. Gécz
|
4 |
2018 |
4
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
75 auth.
Sayaka Kayumi,
L. Pérez-Jurado,
María Palomares,
S. Rangu,
Sarah E. Sheppard,
Wendy K. Chung,
M. Kruer,
Mira Kharbanda,
D. Amor,
G. McGillivray,
Julie S. Cohen,
S. García-Miñaúr,
C. V. van Eyk,
K. Harper,
L. Jolly,
...
D. L. Webber,
C. Barnett,
F. Santos-Simarro,
M. Pacio-Míguez,
A. Pozo,
S. Bakhtiari,
M. Deardorff,
Holly A. Dubbs,
K. Izumi,
Katheryn L. Grand,
Christopher Gray,
P. Mark,
E. Bhoj,
Dong Li,
X. Ortiz-González,
B. Keena,
E. Zackai,
Ethan M. Goldberg,
G. Perez de Nanclares,
A. Pereda,
I. Llano-Rivas,
I. Arroyo,
M. Á. Fernández-Cuesta,
C. Thauvin-Robinet,
L. Faivre,
A. Garde,
Benoît Mazel,
A. Bruel,
M. Tress,
E. Brilstra,
A. Fine,
Kylie E. Crompton,
A. Stegmann,
M. Sinnema,
S. Stevens,
J. Nicolai,
G. Lesca,
L. Lion-François,
D. Haye,
N. Chatron,
A. Piton,
M. Nizon,
B. Cogné,
Siddharth Srivastava,
J. Bassetti,
Candace Muss,
K. Gripp,
Rebecca A. Procopio,
F. Millan,
M. Morrow,
Melissa Assaf,
A. Moreno-De-Luca,
S. Joss,
M. Hamilton,
M. Bertoli,
N. Foulds,
S. McKee,
A. Maclennan,
J. Gécz,
M. Corbett
|
4 |
2022 |
4
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Targeted resequencing identifies genes with recurrent variation in cerebral palsy
12 auth.
C. Eyk,
M. Corbett,
M. Frank,
D. L. Webber,
Morgan Newman,
J. Berry,
...
K. Harper,
B. Haines,
G. McMichael,
J. A. Woenig,
A. Maclennan,
J. Gécz
|
4 |
2019 |
4
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Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing
10 auth.
C. V. van Eyk,
D. L. Webber,
A. Minoche,
L. Pérez-Jurado,
M. Corbett,
A. Gardner,
...
J. Berry,
K. Harper,
A. Maclennan,
J. Gécz
|
4 |
2021 |
4
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|
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.
107 auth.
Elodie M. Richard,
S. Bakhtiari,
Ashley P L Marsh,
R. Kaiyrzhanov,
M. Wagner,
S. Shetty,
A. Pagnozzi,
Sandra M. Nordlie,
Brandon S. Guida,
P. Cornejo,
H. Magee,
James Liu,
Bethany Y. Norton,
R. Webster,
L. Worgan,
...
H. Hakonarson,
Jiankang Li,
Yiran Guo,
Mahim Jain,
Alyssa Blesson,
Lance H Rodan,
M. Abbott,
A. Comi,
Julie S. Cohen,
B. Alhaddad,
T. Meitinger,
Dominic Lenz,
A. Ziegler,
U. Kotzaeridou,
T. Brunet,
A. Chassevent,
C. Smith-Hicks,
J. Ekstein,
Tzvi Weiden,
A. Hahn,
N. Zharkinbekova,
P. Turnpenny,
A. Tucci,
M. Yelton,
R. Horvath,
Serdal Gungor,
S. Hiz,
Y. Oktay,
H. Lochmuller,
M. Zollino,
M. Morleo,
G. Marangi,
V. Nigro,
A. Torella,
M. Pinelli,
S. Amenta,
R. Husain,
B. Grossmann,
M. Rapp,
C. Steen,
I. Marquardt,
M. Grimmel,
U. Grasshoff,
G. Korenke,
M. Owczarek-Lipska,
J. Neidhardt,
F. C. Radio,
C. Mancini,
Dianela Judith,
Claps Sepulveda,
K. McWalter,
Amber Begtrup,
Amy Crunk,
M. Sacoto,
R. Person,
R. Schnur,
M. Mancardi,
Florian Kreuder,
P. Striano,
F. Zara,
W. Chung,
Warren Marks,
C. Eyk,
D. L. Webber,
M. Corbett,
K. Harper,
J. Berry,
A. Maclennan,
J. Gécz,
M. Tartaglia,
V. Salpietro,
J. Christodoulou,
J. Kaslin,
S. Padilla-Lopez,
K. Bilguvar,
A. Munchau,
Zubair M. Ahmed,
R. Hufnagel,
M. Fahey,
R. Maroofian,
H. Houlden,
H. Sticht,
S. Mane,
Aboulfazl Rad,
B. Vona,
Sheng Chih,
73 Jin,
T. Haack,
C. Makowski,
Yoel Hirsch,
S. Riazuddin,
M. Kruer
|
3 |
2021 |
3
🐜
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|
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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice
40 auth.
S. El Chehadeh,
K. A. Han,
Dongwook Kim,
Gyubin Jang,
S. Bakhtiari,
Dongseok Lim,
Hee Young Kim,
Jinhu Kim,
Hyeonho Kim,
J. Wynn,
Wendy K. Chung,
G. Vitiello,
I. Cutcutache,
M. Page,
J. Gécz,
...
K. Harper,
A. Han,
H. M. Kim,
Marja Wessels,
A. Bayat,
A. Jaén,
A. Selicorni,
S. Maitz,
A. D. de Brouwer,
Anneke T. Vulto-van Silfhout,
Martin Armstrong,
J. Symonds,
S. Küry,
B. Isidor,
B. Cogné,
M. Nizon,
Claire Feger,
J. Muller,
E. Torti,
D. Grange,
M. Willems,
M. Kruer,
J. Ko,
A. Piton,
J. Um
|
3 |
2022 |
3
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