Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GRIN1: 1645A>C; Ser549Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Brain : A Journal Of Neurology

Fry, Andrew E AE; Fawcett, Katherine A KA; Zelnik, Nathanel N; Yuan, Hongjie H; Thompson, Belinda A N BAN; Shemer-Meiri, Lilach L; Cushion, Thomas D TD; Mugalaasi, Hood H; Sims, David D; Stoodley, Neil N; Chung, Seo-Kyung SK; Rees, Mark I MI; Patel, Chirag V CV; Brueton, Louise A LA; Layet, Valérie V; Giuliano, Fabienne F; Kerr, Michael P MP; Banne, Ehud E; Meiner, Vardiella V; Lerman-Sagie, Tally T; Helbig, Katherine L KL; Kofman, Laura H LH; Knight, Kristin M KM; Chen, Wenjuan W; Kannan, Varun V; Hu, Chun C; Kusumoto, Hirofumi H; Zhang, Jin J; Swanger, Sharon A SA; Shaulsky, Gil H GH; Mirzaa, Ghayda M GM; Muir, Alison M AM; Mefford, Heather C HC; Dobyns, William B WB; Mackenzie, Amanda B AB; Mullins, Jonathan G L JGL; Lemke, Johannes R JR; Bahi-Buisson, Nadia N; Traynelis, Stephen F SF; Iago, Heledd F HF; Pilz, Daniela T DT

Publication Date: 2018-03-01

Variant appearance in text: GRIN1: S549R

PubMed Link: 29365063

Variant Present in the following documents:

• Main text

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Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Luo, Jian-Hong JH

Publication Date: 2018-06

Variant appearance in text: GRIN1: Ser549Arg

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GRIN1: S549R

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

Neurology

Lemke, Johannes R JR; Geider, Kirsten K; Helbig, Katherine L KL; Heyne, Henrike O HO; Schütz, Hannah H; Hentschel, Julia J; Courage, Carolina C; Depienne, Christel C; Nava, Caroline C; Heron, Delphine D; Møller, Rikke S RS; Hjalgrim, Helle H; Lal, Dennis D; Neubauer, Bernd A BA; Nürnberg, Peter P; Thiele, Holger H; Kurlemann, Gerhard G; Arnold, Georgianne L GL; Bhambhani, Vikas V; Bartholdi, Deborah D; Pedurupillay, Christeen Ramane J CR; Misceo, Doriana D; Frengen, Eirik E; Strømme, Petter P; Dlugos, Dennis J DJ; Doherty, Emily S ES; Bijlsma, Emilia K EK; Ruivenkamp, Claudia A CA; Hoffer, Mariette J V MJ; Goldstein, Amy A; Rajan, Deepa S DS; Narayanan, Vinodh V; Ramsey, Keri K; Belnap, Newell N; Schrauwen, Isabelle I; Richholt, Ryan R; Koeleman, Bobby P C BP; Sá, Joaquim J; Mendonça, Carla C; de Kovel, Carolien G F CG; Weckhuysen, Sarah S; Hardies, Katia K; De Jonghe, Peter P; De Meirleir, Linda L; Milh, Mathieu M; Badens, Catherine C; Lebrun, Marine M; Busa, Tiffany T; Francannet, Christine C; Piton, Amélie A; Riesch, Erik E; Biskup, Saskia S; Vogt, Heinrich H; Dorn, Thomas T; Helbig, Ingo I; Michaud, Jacques L JL; Laube, Bodo B; Syrbe, Steffen S

Publication Date: 2016-06-07

Variant appearance in text: GRIN1: Ser549Arg

PubMed Link: 27164704

Variant Present in the following documents:

• supp_WNL.0000000000002740_Tables.pdf
• NEUROLOGY2015694455.pdf

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