Somatic copy number variants in neuropsychiatric disorders

Complement genes contribute sex-biased vulnerability in diverse disorders

(2020) Nolan Kamitaki et al.   NATURE

Chromosomal alterations among age-related haematopoietic clones in Japan

(2020) Chikashi Terao et al.   NATURE

Monogenic and polygenic inheritance become instruments for clonal selection

(2020) Po-Ru Loh et al.   NATURE

APP gene copy number changes reflect exogenous contamination

(2020) Junho Kim et al.   NATURE

Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex

(2019) William D. Chronister et al.   Cell Reports

Mosaic Brain Aneuploidy in Mental Illnesses: An Association of Low-level post-zygotic Aneuploidy with Schizophrenia and Comorbid Psychiatric Disorders

(2018) Yuri B. Yurov et al.   CURRENT GENOMICS

Chromosome Segregation Fidelity in Epithelia Requires Tissue Architecture

(2018) Kristin A. Knouse et al.   CELL

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

(2018) Po-Ru Loh et al.   NATURE

Somatic APP gene recombination in Alzheimer’s disease and normal neurons

(2018) Ming-Hsiang Lee et al.   NATURE

Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

(2017) Yanmei Dou et al.   HUMAN MUTATION

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

(2017) Elaine T Lim et al.   NATURE NEUROSCIENCE

Aging and neurodegeneration are associated with increased mutations in single human neurons

(2017) Michael A. Lodato et al.   SCIENCE

Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

(2017) Michael J. McConnell et al.   SCIENCE

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias

(2017) Alissa M. D’Gama et al.   Cell Reports

Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families

(2017) Laura Kasak et al.   Scientific Reports

Long Neural Genes Harbor Recurrent DNA Break Clusters in Neural Stem/Progenitor Cells

(2016) Pei-Chi Wei et al.   CELL

Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing

(2016) Li-Li Guan et al.   CHINESE MEDICAL JOURNAL

Exome sequencing for bipolar disorder points to roles of de novo loss-of-function and protein-altering mutations

(2016) M Kataoka et al.   MOLECULAR PSYCHIATRY

Schizophrenia risk from complex variation of complement component 4

(2016) Aswin Sekar et al.   NATURE

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

(2016) Christian R Marshall et al.   NATURE GENETICS

Microarray Analyses Reveal Marked Differences in Growth Factor and Receptor Expression Between 8-Cell Human Embryos and Pluripotent Stem Cells

(2016) Antonis Vlismas et al.   STEM CELLS AND DEVELOPMENT

The Contribution of Mosaic Variants to Autism Spectrum Disorder

(2016) Donald Freed et al.   PLoS Genetics

Association ofMTORMutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

(2016) Ghayda M. Mirzaa et al.   JAMA Neurology

Mosaic structural variation in children with developmental disorders

(2015) Daniel A. King et al.   HUMAN MOLECULAR GENETICS

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

(2015) Jae Seok Lim et al.   NATURE MEDICINE

Extensive load of somatic CNVs in the human placenta

(2015) Laura Kasak et al.   Scientific Reports

Assessment of copy number variations in the brain genome of schizophrenia patients

(2015) Miwako Sakai et al.   Molecular Cytogenetics

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1-q44 duplication including theAKT3gene

(2014) V. Conti et al.   CLINICAL GENETICS

Copy Number Variation in Obsessive-Compulsive Disorder and Tourette Syndrome: A Cross-Disorder Study

(2014) Lauren M. McGrath et al.   JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

(2014) S E McCarthy et al.   MOLECULAR PSYCHIATRY

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

Biological insights from 108 schizophrenia-associated genetic loci

(2014)   NATURE

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Single cell sequencing reveals low levels of aneuploidy across mammalian tissues

(2014) Kristin A. Knouse et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

(2014) Xuyu Cai et al.   Cell Reports

Mosaic copy number variation in schizophrenia

(2013) Douglas M Ruderfer et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Physiologic brain activity causes DNA double-strand breaks in neurons, with exacerbation by amyloid-β

(2013) Elsa Suberbielle et al.   NATURE NEUROSCIENCE

Mosaic Copy Number Variation in Human Neurons

(2013) M. J. McConnell et al.   SCIENCE

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

(2012) Annapurna Poduri et al.   NEURON

Chromosomal mosaicism in human preimplantation embryos: a systematic review

(2011) Jannie van Echten-Arends et al.   HUMAN REPRODUCTION UPDATE

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

(2011) G Kirov et al.   MOLECULAR PSYCHIATRY

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Ontogenetic De Novo Copy Number Variations (CNVs) as a Source of Genetic Individuality: Studies on Two Families with MZD Twins for Schizophrenia

(2011) Sujit Maiti et al.   PLoS One

Accurately Assessing the Risk of Schizophrenia Conferred by Rare Copy-Number Variation Affecting Genes with Brain Function

(2010) Soumya Raychaudhuri et al.   PLoS Genetics

Chromosome instability is common in human cleavage-stage embryos

(2009) Evelyne Vanneste et al.   NATURE MEDICINE

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

(2009) Jonathan Sebat et al.   TRENDS IN GENETICS

The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1

(2007) Yuri B. Yurov et al.   SCHIZOPHRENIA RESEARCH