标题
Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD
作者
关键词
-
出版物
Molecular Autism
Volume 11, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-06-03
DOI
10.1186/s13229-020-00343-4
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons
- (2019) Simon T. Schafer et al. NATURE NEUROSCIENCE
- Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations
- (2019) Laura Gouder et al. Scientific Reports
- Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures
- (2019) Mark Drakesmith et al. Translational Psychiatry
- Uncovering the Functional Link Between SHANK3 Deletions and Deficiency in Neurodevelopment Using iPSC-Derived Human Neurons
- (2019) Guanqun Huang et al. Frontiers in Neuroanatomy
- Genomic Copy Number Variations in the Autism Clinic—Work in Progress
- (2019) Milen Velinov Frontiers in Cellular Neuroscience
- Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome
- (2019) Giovanna Piovani et al. Stem Cell Research
- CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks
- (2019) Eric Deneault et al. eLife
- Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS
- (2019) P. Joel Ross et al. BIOLOGICAL PSYCHIATRY
- Single cell analysis of autism patient with bi-allelic NRXN1-alpha deletion reveals skewed fate choice in neural progenitors and impaired neuronal functionality
- (2019) Matti Lam et al. EXPERIMENTAL CELL RESEARCH
- Individual brain organoids reproducibly form cell diversity of the human cerebral cortex
- (2019) Silvia Velasco et al. NATURE
- Cyfip1 haploinsufficient rats show white matter changes, myelin thinning, abnormal oligodendrocytes and behavioural inflexibility
- (2019) Ana I. Silva et al. Nature Communications
- How Does Reprogramming to Pluripotency Affect Genomic Imprinting?
- (2019) Valentina Perrera et al. Frontiers in Cell and Developmental Biology
- The 22q11 low copy repeats are characterized by unprecedented size and structural variability
- (2019) Wolfram Demaerel et al. GENOME RESEARCH
- Synergistic effects of common schizophrenia risk variants
- (2019) Nadine Schrode et al. NATURE GENETICS
- Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder
- (2019) Arnold Munnich et al. Molecular Autism
- Complex Oscillatory Waves Emerging from Cortical Organoids Model Early Human Brain Network Development
- (2019) Cleber A. Trujillo et al. Cell Stem Cell
- Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling
- (2019) Monica Frega et al. Nature Communications
- Human Cortical Organoids Expose a Differential Function of GSK3 on Cortical Neurogenesis
- (2019) Alejandro López-Tobón et al. Stem Cell Reports
- 3D Bioprinted Human Cortical Neural Constructs Derived from Induced Pluripotent Stem Cells
- (2019) Salaris et al. Journal of Clinical Medicine
- Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
- (2018) Sandra Martin-Brevet et al. BIOLOGICAL PSYCHIATRY
- Modeling the Interplay Between Neurons and Astrocytes in Autism Using Human Induced Pluripotent Stem Cells
- (2018) Fabiele Baldino Russo et al. BIOLOGICAL PSYCHIATRY
- Cytokine profile in autistic patients
- (2018) Mohammad Mahdi Eftekharian et al. CYTOKINE
- Allele-Specific Biased Expression of the CNTN6 Gene in iPS Cell-Derived Neurons from a Patient with Intellectual Disability and 3p26.3 Microduplication Involving the CNTN6 Gene
- (2018) Maria M. Gridina et al. MOLECULAR NEUROBIOLOGY
- Reproducible and efficient generation of functionally active neurons from human hiPSCs for preclinical disease modeling
- (2018) Yunyao Xie et al. Stem Cell Research
- Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons
- (2018) Brooke A. DeRosa et al. Scientific Reports
- Three lines of induced pluripotent stem cells derived from a 15q11.2-q13.1 duplication syndrome patient
- (2018) Yuko Arioka et al. Stem Cell Research
- A stably self-renewing adult blood-derived induced neural stem cell exhibiting patternability and epigenetic rejuvenation
- (2018) Chao Sheng et al. Nature Communications
- Patch-Seq Protocol to Analyze the Electrophysiology, Morphology and Transcriptome of Whole Single Neurons Derived From Human Pluripotent Stem Cells
- (2018) Mark van den Hurk et al. Frontiers in Molecular Neuroscience
- Molecular genetics of 22q11.2 deletion syndrome
- (2018) Bernice E. Morrow et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia
- (2018) Sarah E. Bergen et al. AMERICAN JOURNAL OF PSYCHIATRY
- Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study
- (2018) Ana I. Silva et al. BIOLOGICAL PSYCHIATRY
- Psychiatric disorders and autism in young children with 22q11.2 deletion syndrome compared to children with idiopathic autism
- (2018) Yaffa Serur et al. EUROPEAN PSYCHIATRY
- Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
- (2018) Ida Elken Sønderby et al. MOLECULAR PSYCHIATRY
- Reversal of proliferation deficits caused by chromosome 16p13.11 microduplication through targeting NFκB signaling: an integrated study of patient-derived neuronal precursor cells, cerebral organoids and in vivo brain imaging
- (2018) Mandy Johnstone et al. MOLECULAR PSYCHIATRY
- Reliability of human cortical organoid generation
- (2018) Se-Jin Yoon et al. NATURE METHODS
- Local and global chromatin interactions are altered by large genomic deletions associated with human brain development
- (2018) Xianglong Zhang et al. Nature Communications
- Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models
- (2018) Aishwarya G. Nadadhur et al. Stem Cell Reports
- Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry
- (2017) Amy Lin et al. JOURNAL OF NEUROSCIENCE
- Editing the genome of hiPSC with CRISPR/Cas9: disease models
- (2017) Andrew R. Bassett MAMMALIAN GENOME
- Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development
- (2017) A Kathuria et al. MOLECULAR PSYCHIATRY
- MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling
- (2017) N Mellios et al. MOLECULAR PSYCHIATRY
- Generation of pure GABAergic neurons by transcription factor programming
- (2017) Nan Yang et al. NATURE METHODS
- White matter abnormalities in 22q11.2 deletion syndrome patients showing cognitive decline
- (2017) Jasper Olivier Nuninga et al. PSYCHOLOGICAL MEDICINE
- Cellular Phenotypes in Human iPSC-Derived Neurons from a Genetic Model of Autism Spectrum Disorder
- (2017) Aditi Deshpande et al. Cell Reports
- An Organoid-Based Model of Cortical Development Identifies Non-Cell-Autonomous Defects in Wnt Signaling Contributing to Miller-Dieker Syndrome
- (2017) Vira Iefremova et al. Cell Reports
- CRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells
- (2017) Ping Wang et al. Molecular Autism
- 15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia
- (2017) M O Ulfarsson et al. Translational Psychiatry
- Williams syndrome-specific neuroanatomical profile and its associations with behavioral features
- (2017) Chun Chieh Fan et al. NeuroImage-Clinical
- Modeling psychiatric disorders: from genomic findings to cellular phenotypes
- (2016) A Falk et al. MOLECULAR PSYCHIATRY
- Altered proliferation and networks in neural cells derived from idiopathic autistic individuals
- (2016) M C Marchetto et al. MOLECULAR PSYCHIATRY
- Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR
- (2016) Derek J C Tai et al. NATURE NEUROSCIENCE
- FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders
- (2015) Jessica Mariani et al. CELL
- Directly Reprogrammed Human Neurons Retain Aging-Associated Transcriptomic Signatures and Reveal Age-Related Nucleocytoplasmic Defects
- (2015) Jerome Mertens et al. Cell Stem Cell
- Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism
- (2015) Camila Oliveira Freitas Machado et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Autistic spectrum disorders: A review of clinical features, theories and diagnosis
- (2015) Marc Fakhoury INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
- Altered neuronal network and rescue in a human MECP2 duplication model
- (2015) S Nageshappa et al. MOLECULAR PSYCHIATRY
- Automated, high-throughput derivation, characterization and differentiation of induced pluripotent stem cells
- (2015) Daniel Paull et al. NATURE METHODS
- Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome
- (2015) Shahryar Khattak et al. Molecular Brain
- The relative contribution of common and rare genetic variants to ADHD
- (2015) J Martin et al. Translational Psychiatry
- Diagnostic classification of intrinsic functional connectivity highlights somatosensory, default mode, and visual regions in autism
- (2015) Colleen P. Chen et al. NeuroImage-Clinical
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
- (2014) Dalila Pinto et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- Anatomical Abnormalities in Autism?
- (2014) Shlomi Haar et al. CEREBRAL CORTEX
- Characterization of Genomic Deletion Efficiency Mediated by Clustered Regularly Interspaced Palindromic Repeats (CRISPR)/Cas9 Nuclease System in Mammalian Cells
- (2014) Matthew C. Canver et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
- (2014) Rachel Thompson et al. JOURNAL OF GENERAL INTERNAL MEDICINE
- Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
- (2014) A. Y. Qureshi et al. JOURNAL OF NEUROSCIENCE
- The Histone H3 Lysine 9 Methyltransferases G9a and GLP Regulate Polycomb Repressive Complex 2-Mediated Gene Silencing
- (2014) Chiara Mozzetta et al. MOLECULAR CELL
- The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
- (2014) A M Maillard et al. MOLECULAR PSYCHIATRY
- 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages
- (2014) Antonio Adamo et al. NATURE GENETICS
- Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior
- (2014) Yang Zhan et al. NATURE NEUROSCIENCE
- Efficient Generation of Integration-Free Human Induced Pluripotent Stem Cells From Keratinocytes by Simple Transfection of Episomal Vectors
- (2014) Yulan Piao et al. Stem Cells Translational Medicine
- Gene expression analysis of human induced pluripotent stem cell-derived neurons carrying copy number variants of chromosome 15q11-q13.1
- (2014) Noelle D Germain et al. Molecular Autism
- NeuroElectro: a window to the world's neuron electrophysiology data
- (2014) Shreejoy J. Tripathy et al. Frontiers in Neuroinformatics
- Analysis of copy number variations at 15 schizophrenia-associated loci
- (2013) Elliott Rees et al. BRITISH JOURNAL OF PSYCHIATRY
- Heterogeneity within Autism Spectrum Disorders: What have We Learned from Neuroimaging Studies?
- (2013) Rhoshel K. Lenroot et al. Frontiers in Human Neuroscience
- SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients
- (2013) Aleksandr Shcheglovitov et al. NATURE
- piggyBac transposase tools for genome engineering
- (2013) X. Li et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- The utility of patient specific induced pluripotent stem cells for the modelling of Autistic Spectrum Disorders
- (2013) Graham Cocks et al. PSYCHOPHARMACOLOGY
- Brain Anatomy and Its Relationship to Behavior in Adults With Autism Spectrum Disorder
- (2012) Christine Ecker ARCHIVES OF GENERAL PSYCHIATRY
- CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
- (2012) Dheeraj Malhotra et al. CELL
- Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells
- (2012) Alexej Abyzov et al. NATURE
- Generation of human induced pluripotent stem cells from urine samples
- (2012) Ting Zhou et al. Nature Protocols
- Psychopathology and the Human Connectome: Toward a Transdiagnostic Model of Risk For Mental Illness
- (2012) Joshua W. Buckholtz et al. NEURON
- GABA system dysfunction in autism and related disorders: From synapse to symptoms
- (2012) Suzanne Coghlan et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants
- (2012) Santhosh Girirajan et al. NEW ENGLAND JOURNAL OF MEDICINE
- Regional Brain Differences in Cortical Thickness, Surface Area and Subcortical Volume in Individuals with Williams Syndrome
- (2012) Shashwath A. Meda et al. PLoS One
- Dynamic Changes in the Copy Number of Pluripotency and Cell Proliferation Genes in Human ESCs and iPSCs during Reprogramming and Time in Culture
- (2011) Louise C. Laurent et al. Cell Stem Cell
- Generation of Induced Pluripotent Stem Cells from Urine
- (2011) T. Zhou et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- Copy number variation and selection during reprogramming to pluripotency
- (2011) Samer M. Hussein et al. NATURE
- Screening ethnically diverse human embryonic stem cells identifies a chromosome 20 minimal amplicon conferring growth advantage
- (2011) NATURE BIOTECHNOLOGY
- Mitochondrial-Associated Cell Death Mechanisms Are Reset to an Embryonic-Like State in Aged Donor-Derived iPS Cells Harboring Chromosomal Aberrations
- (2011) Alessandro Prigione et al. PLoS One
- Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions
- (2010) MH Willemsen et al. CLINICAL GENETICS
- Changes in Prefrontal Axons May Disrupt the Network in Autism
- (2010) B. Zikopoulos et al. JOURNAL OF NEUROSCIENCE
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
- (2010) Santhosh Girirajan et al. NATURE GENETICS
- Derivation of Induced Pluripotent Stem Cells from Human Peripheral Blood T Lymphocytes
- (2010) Matthew E. Brown et al. PLoS One
- Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders
- (2009) Christel Depienne et al. BIOLOGICAL PSYCHIATRY
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started