Robert L. Macdonald - Publications, H-index & Citations

Robert L. Macdonald

vanderbilt university

75H指数

288论文数

2.0W被引数

收录论文 57

发表时间

Using large language models to accelerate communication for eye gaze typing users with ALS

NATURE COMMUNICATIONS

IF15.7

2024-11-01

OAAI

Cai, Shanqing; Venugopalan, Subhashini; Seaver, Katie; Xiao, Xiang; Tomanek, Katrin; Jalasutram, Sri; Morris, Meredith Ringel; Kane, Shaun; Narayanan, Ajit; MacDonald, Robert L.; Kornman, Emily; Vance, Daniel; Casey, Blair; Gleason, Steve M.; Nelson, Philip Q.; Brenner, Michael P.

Heterozygous GABAA receptor β3 subunit N110D knock-in mice have epileptic spasms

EPILEPSIA

IF6.6

2023-02-14

OAAI

Qu, Shimian; Jackson, Laurel G.; Zhou, Chengwen; Shen, DingDing; Shen, Wangzhen; Nwosu, Gerald; Howe, Rachel; Catron, Mackenzie A.; Flamm, Carson; Biven, Marshall; Kang, Jing-Qiong; Macdonald, Robert L.

The K328M substitution in the human GABA A receptor gamma2 subunit causes GEFS+ and premature sudden death in knock-in mice

NEUROBIOLOGY OF DISEASE

IF5.6

2021-05-01

OAAI

Qu, Shimian; Zhou, Chengwen; Howe, Rachel; Shen, Wangzhen; Huang, Xuan; Catron, Mackenzie; Hu, Ningning; Macdonald, Robert L.

Dravet syndrome-associated mutations in GABRA1, GABRB2 and GABRG2 define the genetic landscape of defects of GABAA receptors

BRAIN COMMUNICATIONS

IF4.5

2021-03-11

OAAI

Hernandez, Ciria C.; Tian, XiaoJuan; Hu, Ningning; Shen, Wangzhen; Catron, Mackenzie A.; Yang, Ying; Chen, Jiaoyang; Jiang, Yuwu; Zhang, Yuehua; Macdonald, Robert L.

Endoplasmic reticulum stress increases inflammatory cytokines in an epilepsy mouse modelGabrg2+/Q390Xknockin: A link between genetic and acquired epilepsy?

EPILEPSIA

IF6.6

2020-09-17

OAAI

Shen, Wangzhen; Poliquin, Sarah; Macdonald, Robert L.; Dong, Marco; Kang, Jing-Qiong

GABAA receptor β3 subunit mutation D120N causes Lennox-Gastaut syndrome in knock-in mice

BRAIN COMMUNICATIONS

IF4.5

2020-03-10

OAAI

Qu, Shimian; Catron, Mackenzie; Zhou, Chengwen; Janve, Vaishali; Shen, Wangzhen; Howe, Rachel K.; Macdonald, Robert L.

Synaptic clustering differences due to different GABRB3 mutations cause variable epilepsy syndromes

BRAIN

IF11.7

2019-08-21

OAAI

Shi, Yi-Wu; Zhang, Qi; Cai, Kefu; Poliquin, Sarah; Shen, Wangzhen; Winters, Nathan; Yi, Yong-Hong; Wang, Jie; Hu, Ningning; Macdonald, Robert L.; Liao, Wei-Ping; Kang, Jing-Qiong

Molecular basis for and chemogenetic modulation of comorbidities in GABRG2-deficient epilepsies

EPILEPSIA

IF6.6

2019-05-14

OAAI

Zhang, Chun-Qing; McMahon, Bryan; Dong, Huancheng; Warner, Timothy; Shen, Wangzhen; Gallagher, Martin; Macdonald, Robert L.; Kang, Jing-Qiong

Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies

BRAIN

IF11.7

2019-05-05

OAAI

Hernandez, Ciria C.; XiangWei, Wenshu; Hu, Ningning; Shen, Dingding; Shen, Wangzhen; Lagrange, Andre H.; Zhang, Yujia; Dai, Lifang; Ding, Changhong; Sun, Zhaohui; Hu, Jiasheng; Zhu, Hongmin; Jiang, Yuwu; Macdonald, Robert L.

GABAA Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy

SCIENTIFIC REPORTS

IF3.9

2017-11-21

OAAI

Hernandez, Ciria C.; Zhang, Yujia; Hu, Ningning; Shen, Dingding; Shen, Wangzhen; Liu, Xiaoyan; Kong, Weijing; Jiang, Yuwu; Macdonald, Robert L.

Beyond Epilepsy and Autism: Disruption of GABRB3 Causes Ocular Hypopigmentation

CELL REPORTS

IF6.9

2016-12-01

OAAI

Delahanty, Ryan J.; Zhang, Yanfeng; Bichell, Terry Jo; Shen, Wangzhen; Verdier, Kelienne; Macdonald, Robert L.; Xu, Lili; Boyd, Kelli; Williams, Janice; Kang, Jing-Qiong

De novo GABRG2 mutations associated with epileptic encephalopathies 与癫痫性脑病相关的从头GABRG2突变

BRAIN

IF11.7

2016-11-17

OAAI

Shen, Dingding; Hernandez, Ciria C.; Shen, Wangzhen; Hu, Ningning; Poduri, Annapurna; Shiedley, Beth; Rotenberg, Alex; Datta, Alexandre N.; Leiz, Steffen; Patzer, Steffi; Boor, Rainer; Ramsey, Kerri; Goldberg, Ethan; Helbig, Ingo; Ortiz-Gonzalez, Xilma R.; Lemke, Johannes R.; Marsh, Eric D.; Macdonald, Robert L.

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-10-27

OAAI

Ishii, Atsushi; Kang, Jing-Qiong; Schornak, Cara C.; Hernandez, Ciria C.; Shen, Wangzhen; Watkins, Joseph C.; Macdonald, Robert L.; Hirose, Shinichi

Differential protein structural disturbances and suppression of assembly partners produced by nonsense GABRG2 epilepsy mutations: implications for disease phenotypic heterogeneity

SCIENTIFIC REPORTS

IF3.9

2016-10-20

OAAI

Wang, Juexin; Shen, Dingding; Xia, Geqing; Shen, Wangzhen; Macdonald, Robert L.; Xu, Dong; Kang, Jing-Qiong