|
🐜
|
The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders
22 auth.
C. Ang,
Qing Ma,
Orly L. Wapinski,
Shenghua Fan,
Ryan A. Flynn,
Qian Yi Lee,
Bradley P. Coe,
Masahiro Onoguchi,
V. Olmos,
Brian T. Do,
...
Lynn Dukes-Rimsky,
Jin Xu,
K. Tanabe,
Liangjiang Wang,
Ulrich Elling,
J. Penninger,
Yang Zhao,
K. Qu,
E. Eichler,
A. Srivastava,
Marius Wernig,
Howard Y. Chang
|
5 |
2018 |
5
🐜
|
|
🐜
|
Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure
9 auth.
Kelly A Jones,
Yue Luo,
Lynn Dukes-Rimsky,
D. Srivastava,
Richa Koul-Tewari,
Theron A. Russell,
...
Lauren P. Shapiro,
A. Srivastava,
P. Penzes
|
4 |
2018 |
4
🐜
|
|
🐜
|
Tracer metabolomics reveals the role of aldose reductase in glycosylation
21 auth.
S. Radenkovic,
A. Ligezka,
Sneha S. Mokashi,
K. Driesen,
Lynn Dukes-Rimsky,
G. Preston,
Luckio F. Owuocha,
Leila Sabbagh,
Jehan Mousa,
Christina Lam,
...
Andrew C. Edmondson,
A. Larson,
M. Schultz,
P. Vermeersch,
D. Cassiman,
P. Witters,
L. Beamer,
T. Kozicz,
H. Flanagan-Steet,
B. Ghesquière,
E. Morava
|
4 |
2023 |
4
🐜
|
|
🐜
|
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
13 auth.
C. Abad,
Melissa M. Cook,
Lei Cao,
Julie R. Jones,
Nalini R. Rao,
Lynn Dukes-Rimsky,
R. Pauly,
C. Skinner,
Yunsheng Wang,
Feng Luo,
...
R. Stevenson,
K. Walz,
A. Srivastava
|
3 |
2018 |
3
🐜
|
|
🦁
|
Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature
8 auth.
Lynn Dukes-Rimsky,
G. Guzauskas,
K. Holden,
Rachel Griggs,
S. Ladd,
Maria del Carmen Montoya,
...
B. Dupont,
A. Srivastava
|
3 |
2011 |
3
🦁
|
|
🐜
|
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis
11 auth.
E. Klaver,
Lynn Dukes-Rimsky,
B. Kumar,
Zhi-Jie Xia,
Tammie Dang,
M. Lehrman,
...
P. Angel,
R. Drake,
H. Freeze,
R. Steet,
H. Flanagan-Steet
|
2 |
2021 |
2
🐜
|
|
🐜
|
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis
11 auth.
E. Klaver,
Lynn Dukes-Rimsky,
B. Kumar,
Zhi-Jie Xia,
Tammie Dang,
M. Lehrman,
...
P. Angel,
R. Drake,
H. Freeze,
R. Steet,
H. Flanagan-Steet
|
2 |
2021 |
2
🐜
|
