Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Genome-wide analysis reveals extensive genetic overlap between schizophrenia, bipolar disorder, and intelligence

(2019) Olav B Smeland et al.   MOLECULAR PSYCHIATRY

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum

(2018) Andrea Ganna et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management

(2018) Ann Swillen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

(2018) Tingwei Guo et al.   HUMAN MOLECULAR GENETICS

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

(2018) Antonio F. Pardiñas et al.   NATURE GENETICS

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

(2018) Mari E. K. Niemi et al.   NATURE

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

(2018) Sarah E. Bergen et al.   AMERICAN JOURNAL OF PSYCHIATRY

Targeted Sequencing of 10,198 Samples Confirms Abnormalities in Neuronal Activity and Implicates Voltage-Gated Sodium Channels in Schizophrenia Pathogenesis

(2018) Elliott Rees et al.   BIOLOGICAL PSYCHIATRY

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

(2018) Mitja Mitrovič et al.   CELL

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

(2018) Bradley P. Coe et al.   NATURE GENETICS

A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium

(2017) R E Gur et al.   MOLECULAR PSYCHIATRY

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

(2017) Tarjinder Singh et al.   NATURE GENETICS

Mouse Genome Database (MGD)-2018: knowledgebase for the laboratory mouse

(2017) Cynthia L Smith et al.   NUCLEIC ACIDS RESEARCH

PEMapper and PECaller provide a simplified approach to whole-genome sequencing

(2017) H. Richard Johnston et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication

(2017) Louise K. Hoeffding et al.   JAMA Psychiatry

Reference-based phasing using the Haplotype Reference Consortium panel

(2016) Po-Ru Loh et al.   NATURE GENETICS

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

(2016) Christian R Marshall et al.   NATURE GENETICS

A reference panel of 64,976 haplotypes for genotype imputation

(2016)   NATURE GENETICS

Next-generation genotype imputation service and methods

(2016) Sayantan Das et al.   NATURE GENETICS

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

(2016) Giulio Genovese et al.   NATURE NEUROSCIENCE

The ExAC browser: displaying reference data information from over 60 000 exomes

(2016) Konrad J. Karczewski et al.   NUCLEIC ACIDS RESEARCH

Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia

(2016) Elliott Rees et al.   JAMA Psychiatry

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

(2015) Elisabeth E. Mlynarski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Copy Number Variable MicroRNAs in Schizophrenia and Their Neurodevelopmental Gene Targets

(2015) William Warnica et al.   BIOLOGICAL PSYCHIATRY

Practical guidelines for managing adults with 22q11.2 deletion syndrome

(2015) Wai Lun Alan Fung et al.   GENETICS IN MEDICINE

Common alleles contribute to schizophrenia in CNV carriers

(2015) K E Tansey et al.   MOLECULAR PSYCHIATRY

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

(2015) Daniele Merico et al.   G3-Genes Genomes Genetics

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome

(2014) Maude Schneider et al.   AMERICAN JOURNAL OF PSYCHIATRY

PRSice: Polygenic Risk Score software

(2014) Jack Euesden et al.   BIOINFORMATICS

Recent genetic findings in schizophrenia and their therapeutic relevance

(2014) Paul J Harrison   JOURNAL OF PSYCHOPHARMACOLOGY

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

A polygenic burden of rare disruptive mutations in schizophrenia

(2014) Shaun M. Purcell et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

MicroRNA Dysregulation, Gene Networks, and Risk for Schizophrenia in 22q11.2 Deletion Syndrome

(2014) Daniele Merico et al.   Frontiers in Neurology

Prenatal Genetic Testing With Chromosomal Microarray Analysis Identifies Major Risk Variants for Schizophrenia and Other Later-Onset Disorders

(2013) Gregory Costain et al.   AMERICAN JOURNAL OF PSYCHIATRY

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

(2013) George Kirov et al.   BIOLOGICAL PSYCHIATRY

The Database of Genomic Variants: a curated collection of structural variation in the human genome

(2013) Jeffrey R. MacDonald et al.   NUCLEIC ACIDS RESEARCH

MicroRNAs as the cause of schizophrenia in 22q11.2 deletion carriers, and possible implications for idiopathic disease: a mini-review

(2013) Andreas J. Forstner et al.   Frontiers in Molecular Neuroscience

A Permutation Procedure to Correct for Confounders in Case-Control Studies, Including Tests of Rare Variation

(2012) Michael P. Epstein et al.   AMERICAN JOURNAL OF HUMAN GENETICS

miRNA-mediated risk for schizophrenia in 22q11.2 deletion syndrome

(2012) Linda M. Brzustowicz et al.   Frontiers in Genetics

Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test

(2011) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

Monoallelic deletion of the microRNA biogenesis gene Dgcr8 produces deficits in the development of excitatory synaptic transmission in the prefrontal cortex

(2011) Claude M Schofield et al.   Neural Development

Lack of Change in Markers of Presynaptic Terminal Abundance Alongside Subtle Reductions in Markers of Presynaptic Terminal Plasticity in Prefrontal Cortex of Schizophrenia Patients

(2010) Samantha J. Fung et al.   BIOLOGICAL PSYCHIATRY

Rethinking schizophrenia

(2010) Thomas R. Insel   NATURE

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

(2008) Anne S. Bassett et al.   HUMAN MOLECULAR GENETICS

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model

(2008) Kimberly L Stark et al.   NATURE GENETICS