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

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

(2016) Pei-Chi Wei et al.   CELL

Assessment of megabase-scale somatic copy number variation using single-cell sequencing

(2016) Kristin A. Knouse et al.   GENOME RESEARCH

Engineered LINE-1 retrotransposition in nondividing human neurons

(2016) Angela Macia et al.   GENOME RESEARCH

The neuroanatomy of autism - a developmental perspective

(2016) Alex P. A. Donovan et al.   JOURNAL OF ANATOMY

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

(2016) Anna C. Thomas et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

BRAF and RAS Mutations in Sporadic and Secondary Pyogenic Granuloma

(2016) Leopold Groesser et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Altered proliferation and networks in neural cells derived from idiopathic autistic individuals

(2016) M C Marchetto et al.   MOLECULAR PSYCHIATRY

Monovar: single-nucleotide variant detection in single cells

(2016) Hamim Zafar et al.   NATURE METHODS

Clonal genotype and population structure inference from single-cell tumor sequencing

(2016) Andrew Roth et al.   NATURE METHODS

L1-associated genomic regions are deleted in somatic cells of the healthy human brain

(2016) Jennifer A Erwin et al.   NATURE NEUROSCIENCE

Prenatal and pre-implantation genetic diagnosis

(2016) Joris Robert Vermeesch et al.   NATURE REVIEWS GENETICS

Mechanisms underlying structural variant formation in genomic disorders

(2016) Claudia M. B. Carvalho et al.   NATURE REVIEWS GENETICS

The Complete Genome Sequences, Unique Mutational Spectra, and Developmental Potency of Adult Neurons Revealed by Cloning

(2016) Jennifer L. Hazen et al.   NEURON

Copy number analysis of whole-genome data using BIC-seq2 and its application to detection of cancer susceptibility variants

(2016) Ruibin Xi et al.   NUCLEIC ACIDS RESEARCH

The maternal interleukin-17a pathway in mice promotes autism-like phenotypes in offspring

(2016) G. B. Choi et al.   SCIENCE

Neuronal subtypes and diversity revealed by single-nucleus RNA sequencing of the human brain

(2016) B. B. Lake et al.   SCIENCE

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

Tuberous sclerosis complex

(2016) Elizabeth P. Henske et al.   Nature Reviews Disease Primers

A Somatic MAP3K3 Mutation Is Associated with Verrucous Venous Malformation

(2015) Javier A. Couto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Familial focal epilepsy with focal cortical dysplasia due toDEPDC5mutations

(2015) Stéphanie Baulac et al.   ANNALS OF NEUROLOGY

Ubiquitous L1 Mosaicism in Hippocampal Neurons

(2015) Kyle R. Upton et al.   CELL

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

(2015) Jessica Mariani et al.   CELL

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

(2015) Ghayda M Mirzaa et al.   LANCET NEUROLOGY

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

(2015) Harrison W. Gabel et al.   NATURE

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

(2015) Jae Seok Lim et al.   NATURE MEDICINE

Interactive analysis and assessment of single-cell copy-number variations

(2015) Tyler Garvin et al.   NATURE METHODS

Gene Length Matters in Neurons

(2015) Mark J. Zylka et al.   NEURON

Cell Lineage Analysis in Human Brain Using Endogenous Retroelements

(2015) Gilad D. Evrony et al.   NEURON

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

Review: Cortical construction in autism spectrum disorder: columns, connectivity and the subplate

(2015) Jeffrey J. Hutsler et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses

(2015) Liying Yan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Somatic mutation in single human neurons tracks developmental and transcriptional history

(2015) M. A. Lodato et al.   SCIENCE

Calibrating genomic and allelic coverage bias in single-cell sequencing

(2015) Cheng-Zhong Zhang et al.   Nature Communications

Comparison of variations detection between whole-genome amplification methods used in single-cell resequencing

(2015) Yong Hou et al.   GigaScience

L1 Retrotransposons and Somatic Mosaicism in the Brain

(2014) Sandra R. Richardson et al.   Annual Review of Genetics

Variant detection sensitivity and biases in whole genome and exome sequencing

(2014) Alison M Meynert et al.   BMC BIOINFORMATICS

Large transcription units unify copy number variants and common fragile sites arising under replication stress

(2014) Thomas E. Wilson et al.   GENOME RESEARCH

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

Increased L1 Retrotransposition in the Neuronal Genome in Schizophrenia

(2014) Miki Bundo et al.   NEURON

Patches of Disorganization in the Neocortex of Children with Autism

(2014) Rich Stoner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Somatic Mutations in Cerebral Cortical Malformations

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

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

(2014) Xuyu Cai et al.   Cell Reports

LUMPY: a probabilistic framework for structural variant discovery

(2014) Ryan M Layer et al.   GENOME BIOLOGY

Somatic Mosaicism in the Human Genome

(2014) Donald Freed et al.   Genes

Brain somatic mutations: the dark matter of psychiatric genetics?

(2013) T R Insel   MOLECULAR PSYCHIATRY

Topoisomerases facilitate transcription of long genes linked to autism

(2013) Ian F. King et al.   NATURE

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

(2013) Kristian Cibulskis et al.   NATURE BIOTECHNOLOGY

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

(2013) Matthew D. Shirley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mosaic Copy Number Variation in Human Neurons

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

A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1

(2013) L. Bar-Peled et al.   SCIENCE

Genome Mosaicism--One Human, Multiple Genomes

(2013) J. R. Lupski   SCIENCE

Somatic Mutation, Genomic Variation, and Neurological Disease

(2013) A. Poduri et al.   SCIENCE

The genomically mosaic brain: Aneuploidy and more in neural diversity and disease

(2013) Diane M. Bushman et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

(2012) Kyle C. Kurek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Maternal immune activation yields offspring displaying mouse versions of the three core symptoms of autism

(2012) Natalia V. Malkova et al.   BRAIN BEHAVIOR AND IMMUNITY

CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics

(2012) Dheeraj Malhotra et al.   CELL

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

(2012) Gilad D. Evrony et al.   CELL

Replication stress and mechanisms of CNV formation

(2012) Martin F Arlt et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Maternal Immune Activation Increases Neonatal Mouse Cortex Thickness and Cell Density

(2012) Stephen E. P. Smith et al.   Journal of Neuroimmune Pharmacology

Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells

(2012) Alexej Abyzov et al.   NATURE

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

(2012) Marjorie J Lindhurst et al.   NATURE GENETICS

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

(2012) Jean-Baptiste Rivière et al.   NATURE GENETICS

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

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Extensive genetic variation in somatic human tissues

(2012) M. O'Huallachain et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Landscape of Somatic Retrotransposition in Human Cancers

(2012) E. Lee et al.   SCIENCE

High-Throughput Droplet Digital PCR System for Absolute Quantitation of DNA Copy Number

(2011) Benjamin J. Hindson et al.   ANALYTICAL CHEMISTRY

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

Absence of BRAF and HRAS mutations in eruptive Spitz naevi

(2011) S. Gantner et al.   BRITISH JOURNAL OF DERMATOLOGY

Development and Evolution of the Human Neocortex

(2011) Jan H. Lui et al.   CELL

Prenatal immune challenge compromises development of upper-layer but not deeper-layer neurons of the mouse cerebral cortex

(2011) Hitomi Soumiya et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Somatic retrotransposition alters the genetic landscape of the human brain

(2011) J. Kenneth Baillie et al.   NATURE

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells

(2011) N. G. Coufal et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

An Activating Mutation of AKT2 and Human Hypoglycemia

(2011) K. Hussain et al.   SCIENCE

Maternal infection and immune involvement in autism

(2011) Paul H. Patterson   TRENDS IN MOLECULAR MEDICINE

A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans

(2011) Chip Stewart et al.   PLoS Genetics

Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation

(2010) M. Takagi et al.   BLOOD

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

(2010) J. E. Niemela et al.   BLOOD

Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

(2010) Carles Garcia-Linares et al.   HUMAN MUTATION

Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)

(2010) Ludwine Messiaen et al.   HUMAN MUTATION

Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma

(2010) F. Bourdeaut et al.   JOURNAL OF MEDICAL GENETICS

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

L1 retrotransposition in neurons is modulated by MeCP2

(2010) Alysson R. Muotri et al.   NATURE

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

Rate, molecular spectrum, and consequences of human mutation

(2010) M. Lynch   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

VarScan: variant detection in massively parallel sequencing of individual and pooled samples

(2009) Daniel C. Koboldt et al.   BIOINFORMATICS

Increased chromosome instability dramatically disrupts neural genome integrity and mediates cerebellar degeneration in the ataxia-telangiectasia brain

(2009) Ivan Y. Iourov et al.   HUMAN MOLECULAR GENETICS

L1 retrotransposition in human neural progenitor cells

(2009) Nicole G. Coufal et al.   NATURE

Mechanisms of change in gene copy number

(2009) P. J. Hastings et al.   NATURE REVIEWS GENETICS

Somatic evolutionary genomics: Mutations during development cause highly variable genetic mosaicism with risk of cancer and neurodegeneration

(2009) S. A. Frank   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The APOBEC3 Cytidine Deaminases: An Innate Defensive Network Opposing Exogenous Retroviruses and Endogenous Retroelements

(2008) Ya-Lin Chiu et al.   Annual Review of Immunology

Somatic mosaicism for copy number variation in differentiated human tissues

(2008) Arkadiusz Piotrowski et al.   HUMAN MUTATION

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi

(2008) Catherine D. Van Raamsdonk et al.   NATURE