Prioritizing Genetic Contributors to Cortical Alterations in 22q11.2 Deletion Syndrome Using Imaging Transcriptomics

Schizophrenia-related microdeletion causes defective ciliary motility and brain ventricle enlargement via microRNA-dependent mechanisms in mice

(2020) Tae-Yeon Eom et al.   Nature Communications

The genetic architecture of the human cerebral cortex

(2020) Katrina L. Grasby et al.   SCIENCE

ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries

(2020) Paul M. Thompson et al.   Translational Psychiatry

Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders

(2020) Jakob Seidlitz et al.   Nature Communications

Neuronal defects in a human cellular model of 22q11.2 deletion syndrome

(2020) Themasap A. Khan et al.   NATURE MEDICINE

Clinical implications of a novel prognostic factor AIFM3 in breast cancer patients

(2019) Ang Zheng et al.   BMC CANCER

Cortical patterning of abnormal morphometric similarity in psychosis is associated with brain expression of schizophrenia-related genes

(2019) Sarah E. Morgan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Synaptic and Gene Regulatory Mechanisms in Schizophrenia, Autism, and 22q11.2 CNV Mediated Risk for Neuropsychiatric Disorders

(2019) Jennifer K. Forsyth et al.   BIOLOGICAL PSYCHIATRY

In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?

(2019) Zahra Motahari et al.   Journal of Neurodevelopmental Disorders

Transcriptomic networks implicate neuronal energetic abnormalities in three mouse models harboring autism and schizophrenia-associated mutations

(2019) Aaron Gordon et al.   MOLECULAR PSYCHIATRY

Synaptic and transcriptionally downregulated genes are associated with cortical thickness differences in autism

(2018) Rafael Romero-Garcia et al.   MOLECULAR PSYCHIATRY

Large-scale mapping of cortical alterations in 22q11.2 deletion syndrome: Convergence with idiopathic psychosis and effects of deletion size

(2018) Daqiang Sun et al.   MOLECULAR PSYCHIATRY

Morphometric Similarity Networks Detect Microscale Cortical Organization and Predict Inter-Individual Cognitive Variation

(2018) Jakob Seidlitz et al.   NEURON

Linking spatial gene expression patterns to sex-specific brain structural changes on a mouse model of 16p11.2 hemideletion

(2018) Vinod Jangir Kumar et al.   Translational Psychiatry

DGCR8 Promotes Neural Progenitor Expansion and Represses Neurogenesis in the Mouse Embryonic Neocortex

(2018) Nadin Hoffmann et al.   Frontiers in Neuroscience

Bridging the Gap between Connectome and Transcriptome

(2018) Alex Fornito et al.   TRENDS IN COGNITIVE SCIENCES

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels

(2017) Jennifer Kerkhof et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

ENIGMA and the individual: Predicting factors that affect the brain in 35 countries worldwide

(2017) Paul M. Thompson et al.   NEUROIMAGE

miRTarBase update 2018: a resource for experimentally validated microRNA-target interactions

(2017) Chih-Hung Chou et al.   NUCLEIC ACIDS RESEARCH

Developmental excitatory-to-inhibitory GABA-polarity switch is disrupted in 22q11.2 deletion syndrome: a potential target for clinical therapeutics

(2017) Hayder Amin et al.   Scientific Reports

Integrative transcriptome network analysis of iPSC-derived neurons from schizophrenia and schizoaffective disorder patients with 22q11.2 deletion

(2016) Mingyan Lin et al.   BMC Systems Biology

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

(2016) Christian R Marshall et al.   NATURE GENETICS

Regional expression of the MAPT gene is associated with loss of hubs in brain networks and cognitive impairment in Parkinson disease and progressive supranuclear palsy

(2016) Timothy Rittman et al.   NEUROBIOLOGY OF AGING

g:Profiler—a web server for functional interpretation of gene lists (2016 update)

(2016) Jüri Reimand et al.   NUCLEIC ACIDS RESEARCH

Adolescence is associated with genomically patterned consolidation of the hubs of the human brain connectome

(2016) Kirstie J. Whitaker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms

(2015) Alina Guna et al.   Journal of Neurodevelopmental Disorders

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

(2015) Stephan J. Sanders et al.   NEURON

Correlated gene expression supports synchronous activity in brain networks

(2015) J. Richiardi et al.   SCIENCE

A FreeSurfer view of the cortical transcriptome generated from the Allen Human Brain Atlas

(2015) Leon French et al.   Frontiers in Neuroscience

22q11.2 deletion syndrome

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

Transcriptome Profiling of Peripheral Blood in 22q11.2 Deletion Syndrome Reveals Functional Pathways Related to Psychosis and Autism Spectrum Disorder

(2015) Maria Jalbrzikowski et al.   PLoS One

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

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

(2014) Paul M. Thompson et al.   Brain Imaging and Behavior

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

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

(2014) Daniele Merico et al.   Frontiers in Neurology

The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan

(2013) Rachel K. Jonas et al.   BIOLOGICAL PSYCHIATRY

Systematic, Cross-Cortex Variation in Neuron Numbers in Rodents and Primates

(2013) C. J. Charvet et al.   CEREBRAL CORTEX

Reduced Adult Hippocampal Neurogenesis and Working Memory Deficits in the Dgcr8-Deficient Mouse Model of 22q11.2 Deletion-Associated Schizophrenia Can Be Rescued by IGF2

(2013) Y. Ouchi et al.   JOURNAL OF NEUROSCIENCE

Genetic topography of brain morphology

(2013) C.-H. Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transcriptome analysis of microRNAs in developing cerebral cortex of rat

(2012) Mao-jin Yao et al.   BMC GENOMICS

Age-Dependent MicroRNA Control of Synaptic Plasticity in 22q11 Deletion Syndrome and Schizophrenia

(2012) L. R. Earls et al.   JOURNAL OF NEUROSCIENCE

Loss of microRNAs in pyramidal neurons leads to specific changes in inhibitory synaptic transmission in the prefrontal cortex

(2012) Ruby Hsu et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

An anatomically comprehensive atlas of the adult human brain transcriptome

(2012) Michael J. Hawrylycz et al.   NATURE

Transcriptional Architecture of the Primate Neocortex

(2012) Amy Bernard et al.   NEURON

Neuromodulation by Extracellular ATP and P2X Receptors in the CNS

(2012) Baljit S. Khakh et al.   NEURON

Systematic, balancing gradients in neuron density and number across the primate isocortex

(2012) Diarmuid J. Cahalane et al.   Frontiers in Neuroanatomy

Deficiency of Dgcr8, a gene disrupted by the 22q11.2 microdeletion, results in altered short-term plasticity in the prefrontal cortex

(2011) K. Fenelon et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Regional cortical volumes and congenital heart disease: a MRI study in 22q11.2 deletion syndrome

(2010) Marie Schaer et al.   Journal of Neurodevelopmental Disorders

22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia

(2010) Maria Karayiorgou et al.   NATURE REVIEWS NEUROSCIENCE

Analytical approaches to RNA profiling data for the identification of genes enriched in specific cells

(2010) Joseph D. Dougherty et al.   NUCLEIC ACIDS RESEARCH

Distinct Genetic Influences on Cortical Surface Area and Cortical Thickness

(2009) Matthew S. Panizzon et al.   CEREBRAL CORTEX

Congenital heart disease affects local gyrification in 22q11.2 deletion syndrome

(2009) MARIE SCHAER et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Mapping identifiers for the integration of genomic datasets with the R/Bioconductor package biomaRt

(2009) Steffen Durinck et al.   Nature Protocols

Evolution of the neocortex: a perspective from developmental biology

(2009) Pasko Rakic   NATURE REVIEWS NEUROSCIENCE

Cortical thickness or grey matter volume? The importance of selecting the phenotype for imaging genetics studies

(2009) Anderson M. Winkler et al.   NEUROIMAGE

Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome)

(2009) Giles M. Tan et al.   SCHIZOPHRENIA RESEARCH

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

(2008) Kimberly L Stark et al.   NATURE GENETICS