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🐜
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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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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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Author Correction: 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
|
2 |
2021 |
2
🐜
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|
🐜
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Mutations disrupting neuritogenesis genes represent a major independent risk factor for cerebral palsy
78 auth.
S. Jin,
Sara A. Lewis,
S. Bakhtiari,
Xue Zeng,
C. Michael,
Sierant,
S. Shetty,
S. Hinz,
M. Corbett,
Bethany Y. Norton,
C. Eyk,
Auréliane Elie,
S. Haider,
S. Pastore,
B. John,
...
Vincent,
Janice E. Brunstrom-Hernandez,
Antigone Papavasileiou,
M. Fahey,
J. Berry,
K. Harper,
Chongchen Zhou,
H. Magee,
James Liu,
Brandon S. Guida,
Junhui Zhang,
Boyang Li,
Jennifer Heim,
D. L. Webber,
M. Frank,
Lei Xia,
Yiran Xu,
A. Sheth,
James R. Knight,
Boris,
Keren,
C. Castaldi,
Irina R. Tikhonova,
F. López-Giráldez,
M. Cho,
K. Retterer,
F. Millan,
Yangong Wang,
J. Waugh,
Lance H Rodan,
Julie S. Cohen,
A. Fatemi,
Ang-Yeh Lin,
J. Phillips,
Timothy,
Feyma,
S. MacLennan,
Spencer Vaughan,
Kylie E. Crompton,
Susan,
M. Reid,
D. Reddihough,
Qing Shang,
Chao Gao,
I. Novak,
Nadia,
Badawi,
Yana A. Wilson,
S. Mcintyre,
S. Mane,
Xiaoyang Wang,
D. Amor,
Daniela C. Zarnescu,
Q. Lu,
Q. Xing,
Changlian,
Zhu,
K. Bilguvar,
S. Padilla-Lopez,
R. Lifton,
J. Gécz,
A. Maclennan,
M. Kruer
|
0 |
2020 |
0
🐜
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|
🐜
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Author Correction: 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,
Michael C. 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,
Ali Fatemi,
Angela E. 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,
Q. Xing,
Changlian Zhu,
K. Bilguvar,
S. Padilla-Lopez,
R. Lifton,
J. Gécz,
A. Maclennan,
M. Kruer
|
0 |
2021 |
0
🐜
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|
🦁
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Development and validation of a stakeholder-driven, self-contained electronic informed consent platform for trio-based genomic research studies
38 auth.
Bethany Y. Norton,
James Liu,
Sara A Lewis,
Helen Magee,
Tyler N Kruer,
Rachael Dinh,
S. Bakhtiari,
S. H. Nordlie,
S. Shetty,
Jennifer A Heim,
Yumi Nishiyama,
Jorge Arango,
Darcy Johnson,
Lee Seabrooke,
Mitchell Shub,
...
Robert Rosenberg,
Michele Shusterman,
Stephen Wisniewski,
Blair Cooper,
Erin Rothwell,
Michael C Fahey,
M. Shrader,
N. Lennon,
Joyce Oleszek,
Wendy Pierce,
Hannah Fleming,
Mohan V. Belthur,
Jennifer Tinto,
G. Noritz,
Laurie Glader,
Kelsey Steffan,
William Walker,
D. Grenard,
Bhooma R. Aravamuthan,
K. Bjornson,
Malin Joseph,
Paul Gross,
M. Kruer
|
0 |
2024 |
0
🦁
|
