Associated Papers
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.
Brabbing-Goldstein D et al.
Prenatal Diagnosis, 2024
Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function.
Myers SJ et al.
Human Molecular Genetics, 2023
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Xie L et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S et al.
Journal of Medical Genetics, 2023
Hodgkin-Huxley-Katz Prize Lecture: Genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif.
Perszyk RE et al.
The Journal of Physiology, 2020
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.
Fry AE et al.
Brain : a Journal of Neurology, 2018
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