Three-dimensional missense tolerance ratio analysis

Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk

(2021) Amica C. Müller‐Nedebock et al.   MOVEMENT DISORDERS

Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels

(2021) Kasper B. Hansen et al.   PHARMACOLOGICAL REVIEWS

Improved protein structure prediction using potentials from deep learning

(2020) Andrew W. Senior et al.   NATURE

NMDA receptor channel gating control by the pre-M1 helix

(2020) Miranda J. McDaniel et al.   JOURNAL OF GENERAL PHYSIOLOGY

From bedside‐to‐bench: What disease‐associated variants are teaching us about the NMDA receptor

(2020) Johansen B. Amin et al.   JOURNAL OF PHYSIOLOGY-LONDON

Hodgkin‐huxley‐katz prize lecture: genetic and pharmacological control of glutamate receptor channel through a highly conserved gating motif

(2020) Riley E. Perszyk et al.   JOURNAL OF PHYSIOLOGY-LONDON

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

(2020) Qingbo Wang et al.   Nature Communications

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

(2020) Dennis Lal et al.   Genome Medicine

Structural Basis of Functional Transitions in Mammalian NMDA Receptors

(2020) Tsung-Han Chou et al.   CELL

Site of Action of Brain Neurosteroid Pregnenolone Sulfate at the N-Methyl-D-Aspartate Receptor

(2020) Barbora Hrcka Krausova et al.   JOURNAL OF NEUROSCIENCE

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis

(2020) Arthur Stefanski et al.   EPILEPSIA

De novo GRIN variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases

(2019) Jia Li et al.   HUMAN MUTATION

Identification of pathogenic variant enriched regions across genes and gene families

(2019) Eduardo Pérez-Palma et al.   GENOME RESEARCH

A structurally-derived model of subunit-dependent NMDA receptor function

(2018) Alasdair Gibb et al.   JOURNAL OF PHYSIOLOGY-LONDON

Glutamate and Glycine Binding to the NMDA Receptor

(2018) Alvin Yu et al.   STRUCTURE

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

(2017) Joshua Traynelis et al.   GENOME RESEARCH

Functional Evaluation of a De Novo GRIN2A Mutation Identified in a Patient with Profound Global Developmental Delay and Refractory Epilepsy

(2017) Wenjuan Chen et al.   MOLECULAR PHARMACOLOGY

A novel NMDA receptor positive allosteric modulator that acts via the transmembrane domain

(2017) Tzu-Ming Wang et al.   NEUROPHARMACOLOGY

Molecular Mechanism of Disease-Associated Mutations in the Pre-M1 Helix of NMDA Receptors and Potential Rescue Pharmacology

(2017) Kevin K. Ogden et al.   PLoS Genetics

Positive Modulatory Interactions of NMDA Receptor GluN1/2B Ligand Binding Domains Attenuate Antagonists Activity

(2017) Douglas Bledsoe et al.   Frontiers in Pharmacology

Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue

(2017) L. Addis et al.   Scientific Reports

Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains

(2016) Sharon A. Swanger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Molecular Basis for Subtype Specificity and High-Affinity Zinc Inhibition in the GluN1-GluN2A NMDA Receptor Amino-Terminal Domain

(2016) Annabel Romero-Hernandez et al.   NEURON

Altered zinc sensitivity of NMDA receptors harboring clinically-relevant mutations

(2016) Benjamin Serraz et al.   NEUROPHARMACOLOGY

The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome

(2015) Erin L. Heinzen et al.   Annual Review of Neuroscience

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Structural Insights into Competitive Antagonism in NMDA Receptors

(2014) Annie Jespersen et al.   NEURON

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

(2014) Hongjie Yuan et al.   Nature Communications

NMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease

(2013) Pierre Paoletti et al.   NATURE REVIEWS NEUROSCIENCE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Glutamate Receptor Ion Channels: Structure, Regulation, and Function

(2010) S. F. Traynelis et al.   PHARMACOLOGICAL REVIEWS