Expansion of the GRIA2 phenotypic representation: a novel de novo loss of function mutation in a case with childhood onset schizophrenia

Glutamate Hypothesis in Schizophrenia

(2019) Yota Uno et al.   PSYCHIATRY AND CLINICAL NEUROSCIENCES

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

(2019) Vincenzo Salpietro et al.   Nature Communications

Schizophrenia—An Overview

(2019) Robert A. McCutcheon et al.   JAMA Psychiatry

Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era

(2019) Arnaud Fernandez et al.   Frontiers in Genetics

MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro

(2018) Taimoor I. Sheikh et al.   HUMAN MUTATION

Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia

(2018) Boris Chaumette et al.   MOLECULAR PSYCHIATRY

Exome sequencing of sporadic childhood-onset schizophrenia suggests the contribution of X-linked genes in males

(2018) Amirthagowri Ambalavanan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Obsessive–compulsive disorder, which genes? Which functions? Which pathways? An integrated holistic view regarding OCD and its complex genetic etiology

(2017) Ali Bozorgmehr et al.   JOURNAL OF NEUROGENETICS

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

(2016) Monkol Lek et al.   NATURE

De novo variants in sporadic cases of childhood onset schizophrenia

(2015) Amirthagowri Ambalavanan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

(2013) George Kirov et al.   BIOLOGICAL PSYCHIATRY

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Glutamate Receptor Abnormalities in Schizophrenia: Implications for Innovative Treatments

(2012) Maria D. Rubio et al.   Biomolecules & Therapeutics

AMPA receptors as drug targets in neurological disease - advantages, caveats, and future outlook

(2012) Philip K.-Y. Chang et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

(2010) A M Addington et al.   MOLECULAR PSYCHIATRY

Epigenomic Profiling Reveals DNA-Methylation Changes Associated with Major Psychosis

(2008) Jonathan Mill et al.   AMERICAN JOURNAL OF HUMAN GENETICS