Associated Papers
Ligand distances as key predictors of pathogenicity and function in NMDA receptors.
Montanucci L et al.
Human Molecular Genetics, 2025
39535073 (PubMed )
Supplement: supplemental_table_s6_final_ddae156.xlsx › Supporting_parameter_for_a_CALL
Whole-Genome Sequencing Reveals a Novel Pathogenic GRIN2B Variant in a Patient with Neurodevelopmental Disorder and an inv(6)(p24p11.2)pat.
Córdova-Fletes C et al.
Cytogenetic and Genome Research, 2024
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
Brock S et al.
Journal of Medical Genetics, 2023
Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.
Kellner S et al.
Elife, 2021
34212862 (PubMed )
Supplement: elife-67555-supp2.xlsx › ClinVar_-_filtered
Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.
Stutterd CA et al.
Brain Communications, 2021
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