Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
出版年份 2017 全文链接
标题
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network
作者
关键词
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出版物
SCIENCE
Volume 356, Issue 6336, Pages eaal1641
出版商
American Association for the Advancement of Science (AAAS)
发表日期
2017-04-28
DOI
10.1126/science.aal1641
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
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