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

paper Cited Public

Authors: McConnell, Michael J; Moran, John V; Abyzov, Alexej; Akbarian, Schahram; Bae, Taejeong; Cortes-Ciriano, Isidro; Erwin, Jennifer A; Fasching, Liana; Flasch, Diane A; Freed, Donald; Ganz, Javier; Jaffe, Andrew E; Kwan, Kenneth Y; Kwon, Minseok; Lodato, Michael A; Mills, Ryan E; Paquola, Apua C M; Rodin, Rachel E; Rosenbluh, Chaggai; Sestan, Nenad; Sherman, Maxwell A; Shin, Joo Heon; Song, Saera; Straub, Richard E; Thorpe, Jeremy; Weinberger, Daniel R; Urban, Alexander E; Zhou, Bo; Gage, Fred H; Lehner, Thomas; Senthil, Geetha; Walsh, Christopher A; Chess, Andrew; Courchesne, Eric; Gleeson, Joseph G; Kidd, Jeffrey M; Park, Peter J; Pevsner, Jonathan; Vaccarino, Flora M; Brain Somatic Mosaicism Network
Year: 2017
Journal: Science (New York, N.Y.)
PMID: 28450582
DOI: 10.1126/science.aal1641
PMCID: PMC5558435

Fig. 1

An overview of approaches employed by the BSMNThe general approach of the BSMN is to identify mosaic variants in primary human brain tissue from large cohorts of neurotypical individuals and neuropsychiatric disease patients. The methods include bulk sequencing of tissues or sorted neurons (top), sequencing of single cells after whole-genome amplification (middle), or clonal expansion from single cells followed by bulk sequencing (bottom). Each method offers a trade-off between sensitivity and specificity.

Fig. 2

An example of brain somatic mosaicism that leads to a focal overgrowth condition(A) Axial brain magnetic resonance imaging (MRI) of focal overgrowth of one hemisphere (arrows) from a 2-month-old child with intractable epilepsy and intellectual disability. MRI showed poor differentiation between the gray and white matter with dysplasia of the cortical gyri and sulci (arrows). (B) Brain mapping using high-resolution MRI or functional imaging such as positron emission tomography (PET), together with electrocorticography to fine-map specific epileptic foci, is followed by surgical resection of diseased brain tissue. (C) Histological analysis with hematoxylin/eosin showing characteristic balloon cells (arrows) consisting of large nuclei, distinct nucleoli, and glassy eosinophilic cytoplasm. (D) Immunostained section for phospho-S6 (green), as evidence of increased mTOR pathway activation. Arrows highlight large dysplastic cell showing strongest immunosignal. Scale bar, 50 μm. Bulk tissue sequencing showed somatic activating mutation in the MTOR gene c.6644C>T leading to p.S2215F in 15% of brain cells from the diseased hemisphere. After surgery, the patient showed clinical improvement.

Fig. 3

A potential strategy to determine functional consequences of mosaic variantsIn utero electroporation (IUE) transfects a subpopulation of cortical neurons within a local area and will be combined with genome editing to generate mosaic mouse models for functional analysis. For example, a red fluorescent construct (CAG-TdTom) is shown labeling a transfected subset of neurons, shown in the context of a coronal brain section in which nuclei are stained blue with 4′,6-diamidino-2-phenylindole (DAPI). Scale bar, 500 μm.

#	Section	Preview
0	Mechanisms of somatic mosaicism	DNA damage occurs constantly in every cell in our bodies, and many components of the DNA damage…
1	Mechanisms of somatic mosaicism	The nonhomologous end-joining (NHEJ) pathway of DNA repair is required for neurodevelopment. Mice…
2	Mechanisms of somatic mosaicism	Defects in different DNA repair pathways are associated with distinct somatic mutation profiles. For…
3	Mechanisms of somatic mosaicism	Errors incurred during DNA replication or transcription also can lead to the formation of CNVs.…
4	Mechanisms of somatic mosaicism	Long interspersed element-1s (LINE-1s or L1s) can mobilize (i.e., retrotranspose) within the brain,…
5	Somatic mutations in human disease — Mosaicism and structural brain abnormalities	One of the most common causes of medically refractory pediatric epilepsy is focal dysplasia of the…
6	Somatic mutations in human disease — Mosaicism and structural brain abnormalities	regulators of the mTOR-signaling pathway, a second somatically acquired mutation is required for…
7	Somatic mutations in human disease — Mosaicism and structural brain abnormalities	Somatic mutations that inappropriately activate Ras signaling or related signaling pathways can…
8	Somatic mutations in human disease — Mosaicism and structural brain abnormalities	Relative to germline mutations, somatic mutations can lead to milder cases of heritable…
9	Somatic mutations in human disease — ASD and other common neuropsychiatric diseases	Genetic approaches have not yet fully explained the etiology of ASD, bipolar disorder,…
10	Somatic mutations in human disease — ASD and other common neuropsychiatric diseases	De novo SNVs and CNVs, particularly loss-of-function mutations, are significant contributors to ASD…
11	Somatic mutations in human disease — ASD and other common neuropsychiatric diseases	Prenatal challenges to the immune system in animals (i.e., maternal immune activation) (68) can also…
12	Methods to detect somatic mutations	The difficulty in detecting a somatic mutation depends on its frequency within a cell population.…
13	Methods to detect somatic mutations — Bulk tissue approaches	Whole-genome sequencing (WGS) or whole-exome sequencing (WES) of DNA derived from bulk brain tissue…
14	Methods to detect somatic mutations — Sorted-pools approaches	Fluorescence-activated cell or nuclei sorting (FACS/FANS) can be used to isolate specific neural…
15	Methods to detect somatic mutations — Single-cell approaches	WGA can be used to analyze the genomes of single neurons (26). The spectrum of mutations identified…
16	Methods to detect somatic mutations — Single-cell approaches	detection. By comparison, MDA yields a high rate of artificial chimeric DNA molecules that can lead…
17	Methods to detect somatic mutations — Single-cell approaches	Clonal expansion of single cells using human-induced pluripotent stem cell (hiPSC) technology or…
18	Methods to detect somatic mutations — Single-cell approaches	the expense and availability of human oocytes. Finally, reprogramming approaches currently are only…
19	Methods to detect somatic mutations — Computational methods for mutation detection	WGS and WES have been used successfully to detect somatic SNVs in family-based studies of Mendelian…

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In this knowledge base

Title	Year	PMID
Genetics of Alcohol Use Disorder: A Role for Induced Pluripotent Stem Cells?	2018	29897633

External

Title	Authors	Journal	Year	Link
Electromagnetic fields and oxidative stress: The link to the development of cancer, neurological diseases, and behavioral disorders.	Leković Ž	—	2026	→
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism.	Shao DD et al.	—	2025	→
A microglia clonal inflammatory disorder in Alzheimer's disease.	Vicario R et al.	—	2025	→
Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.	Li Z et al.	—	2025	→
Draft <i>de novo</i> genome construction of <i>Scytonema</i> sp. PRP1: identified from single-cell sequencing library preparation.	Parana P et al.	—	2025	→
Early developmental origins of cortical disorders modeled in human neural stem cells.	Mato-Blanco X et al.	—	2025	→
Identifying non-coding variant effects at scale via machine learning models of cis-regulatory reporter assays	Butts JC et al.	—	2025	—
Increased activation of the WNT pathway in brain tissue from patients with cortical dysplasia type IIb.	Varella FJ et al.	—	2025	→
Increased somatic mosaicism in autosomal and X chromosomes for suicide death.	Otsuka I et al.	—	2025	→
Oxytocin seals the blood-brain barrier, improving 22q11.2 deletion syndrome trajectories.	Castellani G et al.	—	2025	→
Adaptive and Maladaptive DNA Breaks in Neuronal Physiology and Alzheimer's Disease.	Roberts A et al.	—	2024	→
A somatic view of the genomic impact of mitochondrial endosymbiosis.	Doss RM et al.	—	2024	→
A Unifying Hypothesis for the Genome Dynamics Proposed to Underlie Neuropsychiatric Phenotypes.	Gericke GS	—	2024	→
Genomic Mosaicism of the Brain: Origin, Impact, and Utility.	Graham JH et al.	—	2024	→
Genomic variation in neurons.	Zolzaya S et al.	—	2024	→
Mapping recurrent mosaic copy number variation in human neurons.	Sun C et al.	—	2024	→
Omics Approaches to Investigate the Pathogenesis of Suicide.	Boldrini M et al.	—	2024	→
Ras, RhoA, and vascular pharmacology in neurodevelopment and aging.	Nussinov R et al.	—	2024	→
Rats Selected for Different Nervous Excitability: Long-Term Emotional-Painful Stress Affects the Dynamics of DNA Damage in Cells of Several Brain Areas.	Shcherbinina V et al.	—	2024	→
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.	Ribierre T et al.	—	2024	→
Types of DNA damage and research progress.	Nian L et al.	—	2024	→
DNA damage response in neurodevelopment and neuromaintenance.	Qing X et al.	—	2023	→
Emerging Opportunities to Study Mobile Element Insertions and Their Source Elements in an Expanding Universe of Sequenced Human Genomes.	Devine SE	—	2023	→
Exploratory analysis of L1 retrotransposons expression in autism.	Spirito G et al.	—	2023	→
Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases.	Garrison MA et al.	—	2023	→
Identifying Aging and Alzheimer Disease-Associated Somatic Variations in Excitatory Neurons From the Human Frontal Cortex.	Zhang M et al.	—	2023	→
Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration.	Dileep V et al.	—	2023	→
Ogt-mediated O-GlcNAcylation inhibits astrocytes activation through modulating NF-κB signaling pathway.	Dong X et al.	—	2023	→
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.	Mayo S et al.	—	2022	→
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder.	Kushima I et al.	—	2022	→
Establishment of reference standards for multifaceted mosaic variant analysis.	Ha YJ et al.	—	2022	→
Genome Maintenance in Mammalian Stem Cells.	Schimenti JC et al.	—	2022	→
Human cerebral organoids - a new tool for clinical neurology research.	Eichmüller OL et al.	—	2022	→
<i>De novo</i> mutations, genetic mosaicism and human disease.	Mohiuddin M et al.	—	2022	→
Mechanisms of DNA damage-mediated neurotoxicity in neurodegenerative disease.	Welch G et al.	—	2022	→
Repurposing Drugs via Network Analysis: Opportunities for Psychiatric Disorders.	Truong TTT et al.	—	2022	→
Somatic genomic mosaicism in the brain during aging: Scratching the surface.	Bae T et al.	—	2022	→
Somatic Mosaicism in Biology and Disease.	Ogawa H et al.	—	2022	→
Somatic mosaicism in the diseased brain.	Iourov IY et al.	—	2022	→
Somatic retrotransposition in the developing rhesus macaque brain.	Billon V et al.	—	2022	→
The Role of Transposable Elements of the Human Genome in Neuronal Function and Pathology.	Chesnokova E et al.	—	2022	→
Transcription-associated DNA DSBs activate p53 during hiPSC-based neurogenesis.	Michel N et al.	—	2022	→
Transposable element activation promotes neurodegeneration in a <i>Drosophila</i> model of Huntington's disease.	Casale AM et al.	—	2022	→
Analysis of LINE1 Retrotransposons in Huntington's Disease.	Floreani L et al.	—	2021	→
Applications of Single-Cell DNA Sequencing.	Evrony GD et al.	—	2021	→
A screen of brain organoids to study neurodevelopmental disease.	Cherskov A et al.	—	2021	→
Cas9 targeted enrichment of mobile elements using nanopore sequencing.	McDonald TL et al.	—	2021	→
Comprehensive identification of somatic nucleotide variants in human brain tissue.	Wang Y et al.	—	2021	→
Expanding studies of chromosome structure and function in the era of T2T genomics.	Miga KH et al.	—	2021	→
Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).	Bonduelle T et al.	—	2021	→
Genomics of Alzheimer's disease implicates the innate and adaptive immune systems.	Li Y et al.	—	2021	→
Large mosaic copy number variations confer autism risk.	Sherman MA et al.	—	2021	→
Low-Level Brain Somatic Mutations Are Implicated in Schizophrenia.	Kim MH et al.	—	2021	→
Machine learning reveals bilateral distribution of somatic L1 insertions in human neurons and glia.	Zhu X et al.	—	2021	→
MEDALT: single-cell copy number lineage tracing enabling gene discovery.	Wang F et al.	—	2021	→
Multiple Sclerosis-Associated hnRNPA1 Mutations Alter hnRNPA1 Dynamics and Influence Stress Granule Formation.	Clarke JWE et al.	—	2021	→
Neocortical development and epilepsy: insights from focal cortical dysplasia and brain tumours.	Blumcke I et al.	—	2021	→
Non-Cell Autonomous Epileptogenesis in Focal Cortical Dysplasia.	Koh HY et al.	—	2021	→
Pharmacological reversal of synaptic and network pathology in human MECP2-KO neurons and cortical organoids.	Trujillo CA et al.	—	2021	→
PsychENCODE and beyond: transcriptomics and epigenomics of brain development and organoids.	Jourdon A et al.	—	2021	→
SIRT6 Through the Brain Evolution, Development, and Aging.	Garcia-Venzor A et al.	—	2021	→
Somatic and <i>de novo</i> Germline Variants of <i>MEDs</i> in Human Neural Tube Defects.	Tian T et al.	—	2021	→
Somatic copy number variants in neuropsychiatric disorders.	Maury EA et al.	—	2021	→
Structural diverseness of neurons between brain areas and between cases.	Mizutani R et al.	—	2021	→
The Dynamics of Somatic Mutagenesis During Life in Humans.	Manders F et al.	—	2021	→
The Essential DNA Damage Response Complex MRN Is Dispensable for the Survival and Function of Purkinje Neurons.	Ding M et al.	—	2021	→
The L1-dependant and Pol III transcribed Alu retrotransposon, from its discovery to innate immunity.	Stenz L	—	2021	→
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.	Rodin RE et al.	—	2021	→
What a finding of gene copy number variation can add to the diagnosis of developmental neuropsychiatric disorders.	Vorstman J et al.	—	2021	→
AMPA receptor deletion in developing MGE-derived hippocampal interneurons causes a redistribution of excitatory synapses and attenuates postnatal network oscillatory activity.	Akgül G et al.	—	2020	→
BRAFV600E expression in neural progenitors results in a hyperexcitable phenotype in neocortical pyramidal neurons.	Goz RU et al.	—	2020	→
Genome integrity and neurogenesis of postnatal hippocampal neural stem/progenitor cells require a unique regulator Filia.	Li J et al.	—	2020	→
Genomic Chaos Begets Psychiatric Disorder.	Dwyer DS	—	2020	→
Genomic Indexing by Somatic Gene Recombination of mRNA/ncRNA - Does It Play a Role in Genomic Mosaicism, Memory Formation, and Alzheimer's Disease?	Ueberham U et al.	—	2020	→
Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology.	Zhou W et al.	—	2020	→
Implementation of a Hamming distance-like genomic quantum classifier using inner products on ibmqx2 and ibmq_16_melbourne.	Kathuria K et al.	—	2020	→
Increased Neural Progenitor Proliferation in a hiPSC Model of Autism Induces Replication Stress-Associated Genome Instability.	Wang M et al.	—	2020	→
Induction of recurrent break cluster genes in neural progenitor cells differentiated from embryonic stem cells in culture.	Tena A et al.	—	2020	→
In search of optimal resilience ratios: Differential influences of neurobehavioral factors contributing to stress-resilience spectra.	Lambert K et al.	—	2020	→
Investigation of Somatic Mutations in Human Brains Targeting Genes Associated With Parkinson's Disease.	Leija-Salazar M et al.	—	2020	→
Ion Channel Functions in Early Brain Development.	Smith RS et al.	—	2020	→
Mosaicism in Human Health and Disease.	Thorpe J et al.	—	2020	→
Mutation as a Toxicological Endpoint for Regulatory Decision-Making.	Heflich RH et al.	—	2020	→
Natural and pathogenic protein sequence variation affecting prion-like domains within and across human proteomes.	Cascarina SM et al.	—	2020	→
Postzygotic Somatic Mutations in the Human Brain Expand the Threshold-Liability Model of Schizophrenia.	Singh SM et al.	—	2020	→
Prenatal Origins of ASD: The When, What, and How of ASD Development.	Courchesne E et al.	—	2020	→
Prenatal treatment path for angelman syndrome and other neurodevelopmental disorders.	Zylka MJ	—	2020	→
Protective Mechanisms Against DNA Replication Stress in the Nervous System.	Charlier CF et al.	—	2020	→
Somatic mutations - Evolution within the individual.	Oota S	—	2020	→
Somatic mutations in neurodegeneration: An update.	Proukakis C	—	2020	→
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects.	Tian T et al.	—	2020	→
Suppression of DNA Double-Strand Break Formation by DNA Polymerase β in Active DNA Demethylation Is Required for Development of Hippocampal Pyramidal Neurons.	Uyeda A et al.	—	2020	→
Symmetric neural progenitor divisions require chromatin-mediated homologous recombination DNA repair by Ino80.	Keil JM et al.	—	2020	→
The multiplex model of the genetics of Alzheimer's disease.	Sims R et al.	—	2020	→
The role of somatic mosaicism in brain disease.	Jourdon A et al.	—	2020	→
Topologically Guided Prioritization of Candidate Gene Transcripts Coexpressed with the 5-HT1A Receptor by Combining In Vivo PET and Allen Human Brain Atlas Data.	Unterholzner J et al.	—	2020	→
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.	Cao Y et al.	—	2019	→
Aggression in BALB/cJ mice is differentially predicted by the volumes of anterior and midcingulate cortex.	van Heukelum S et al.	—	2019	→
Assessment of somatic single-nucleotide variation in brain tissue of cases with schizophrenia.	Fullard JF et al.	—	2019	→
Bioinformatic and biological avenues for understanding alcohol use disorder.	Grantham EK et al.	—	2019	→
Damage Control in the Developing Brain: Tradeoffs and Consequences.	Alsina FC et al.	—	2019	→
Deciphering Brain Complexity Using Single-cell Sequencing.	Mu Q et al.	—	2019	→
Defining the Genetic, Genomic, Cellular, and Diagnostic Architectures of Psychiatric Disorders.	Sullivan PF et al.	—	2019	→
Early detection of cancer using circulating tumor DNA: biological, physiological and analytical considerations.	Bronkhorst AJ et al.	—	2019	→
Genomic mosaicism: A neglected factor that promotes variability in asthma diagnosis.	de Bittencourt Buss T et al.	—	2019	→
Illegitimate and Repeated Genomic Integration of Cell-Free Chromatin in the Aetiology of Somatic Mosaicism, Ageing, Chronic Diseases and Cancer.	Raghuram GV et al.	—	2019	→
Imaging Flow Cytometry Quantifies Neural Genome Dynamics.	Michel N et al.	—	2019	→
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.	Perez-Rodriguez D et al.	—	2019	→
LINE-1 Evasion of Epigenetic Repression in Humans.	Sanchez-Luque FJ et al.	—	2019	→
Modeling Brain Somatic Mosaicism With Cerebral Organoids, Including a Note on Mutant Microglia.	Verheijen BM	—	2019	→
Neurons with Complex Karyotypes Are Rare in Aged Human Neocortex.	Chronister WD et al.	—	2019	→
New pathologic mechanisms in nucleotide repeat expansion disorders.	Rodriguez CM et al.	—	2019	→
Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism.	Iourov IY et al.	—	2019	→
Robust elimination of genome-damaged cells safeguards against brain somatic aneuploidy following Knl1 deletion.	Shi L et al.	—	2019	→
Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.	Darby CA et al.	—	2019	→
Selective vulnerability in α-synucleinopathies.	Alegre-Abarrategui J et al.	—	2019	→
Somatic mosaicism of sex chromosomes in the blood and brain.	Graham EJ et al.	—	2019	→
Somatic mutations in the human brain: implications for psychiatric research.	Nishioka M et al.	—	2019	→
Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.	Ye Z et al.	—	2019	→
The ASD Living Biology: from cell proliferation to clinical phenotype.	Courchesne E et al.	—	2019	→
The emerging role of cell-free DNA as a molecular marker for cancer management.	Bronkhorst AJ et al.	—	2019	→
The Fragile X Protein and Genome Function.	Dockendorff TC et al.	—	2019	→
The Post-amyloid Era in Alzheimer's Disease: Trust Your Gut Feeling.	Osorio C et al.	—	2019	→
The role of adult hippocampal neurogenesis in brain health and disease.	Toda T et al.	—	2019	→
The role of somatic mutational events in the pathogenesis of epilepsy.	Iffland PH et al.	—	2019	→
The use of technical replication for detection of low-level somatic mutations in next-generation sequencing.	Kim J et al.	—	2019	→
Thinking About Schizophrenia in an Era of Genomic Medicine.	Weinberger DR	—	2019	→
Accelerated Evolution in Distinctive Species Reveals Candidate Elements for Clinically Relevant Traits, Including Mutation and Cancer Resistance.	Ferris E et al.	—	2018	→
A characterization of postzygotic mutations identified in monozygotic twins.	Ouwens KG et al.	—	2018	→
Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.	Wong BKY et al.	—	2018	→
Brain endocannabinoid signaling exhibits remarkable complexity.	Gorzkiewicz A et al.	—	2018	→
Brain Somatic Mutations in Epileptic Disorders.	Koh HY et al.	—	2018	→
Clonal Hematopoiesis and Evolution to Hematopoietic Malignancies.	Bowman RL et al.	—	2018	→
DEPDC5 takes a second hit in familial focal epilepsy.	Anderson MP	—	2018	→
Detecting Somatic Mutations in Normal Cells.	Dou Y et al.	—	2018	→
Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.	Bae T et al.	—	2018	→
DNA double-strand breaks as drivers of neural genomic change, function, and disease.	Alt FW et al.	—	2018	→
Early life experience shapes neural genome.	Song S et al.	—	2018	→
Frequent monoallelic or skewed expression for developmental genes in CNS-derived cells and evidence for balancing selection.	Branciamore S et al.	—	2018	→
Genetics of Alcohol Use Disorder: A Role for Induced Pluripotent Stem Cells?	Prytkova I et al.	—	2018	→
Genome-wide mutation detection by interclonal genetic variation.	Revollo JR et al.	—	2018	→
Genomics of autism spectrum disorder: approach to therapy.	Ayhan F et al.	—	2018	→
How early media exposure may affect cognitive function: A review of results from observations in humans and experiments in mice.	Christakis DA et al.	—	2018	→
Human glioblastoma arises from subventricular zone cells with low-level driver mutations.	Lee JH et al.	—	2018	→
Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain.	Villela D et al.	—	2018	→
L1 retrotransposition in the soma: a field jumping ahead.	Faulkner GJ et al.	—	2018	→
LINE-1 retrotransposons in healthy and diseased human brain.	Suarez NA et al.	—	2018	→
Novel Bioinformatics Approach Identifies Transcriptional Profiles of Lineage-Specific Transposable Elements at Distinct Loci in the Human Dorsolateral Prefrontal Cortex.	Guffanti G et al.	—	2018	→
Review: Somatic mutations in neurodegeneration.	Leija-Salazar M et al.	—	2018	→
Single-cell analysis of diversity in human stem cell-derived neurons.	Harbom LJ et al.	—	2018	→
Somatic mosaicism and neurodevelopmental disease.	D'Gama AM et al.	—	2018	→
Somatic mutations in neurons during aging and neurodegeneration.	Verheijen BM et al.	—	2018	→
Systems Biology Methods for Alzheimer's Disease Research Toward Molecular Signatures, Subtypes, and Stages and Precision Medicine: Application in Cohort Studies and Trials.	Castrillo JI et al.	—	2018	→
The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes.	Gabriele M et al.	—	2018	→
The daunting polygenicity of mental illness: making a new map.	Hyman SE	—	2018	→
The Malaria-Protective Human Glycophorin Structural Variant DUP4 Shows Somatic Mosaicism and Association with Hemoglobin Levels.	Algady W et al.	—	2018	→
Three classes of recurrent DNA break clusters in brain progenitors identified by 3D proximity-based break joining assay.	Wei PC et al.	—	2018	→
Understanding the epigenetic architecture of psychiatric disorders: Modifications and beyond.	Iwamoto K	—	2018	→
Utility of circulating tumor DNA in cancer diagnostics with emphasis on early detection.	Fiala C et al.	—	2018	→
Examining non-LTR retrotransposons in the context of the evolving primate brain.	Linker SB et al.	—	2017	→
Genetic insights into the neurodevelopmental origins of schizophrenia.	Birnbaum R et al.	—	2017	→
Genome integrity and disease prevention in the nervous system.	McKinnon PJ	—	2017	→
Inducing Cre-lox Recombination in Mouse Cerebral Cortex Through In Utero Electroporation.	Bland KM et al.	—	2017	→
L1 Mosaicism in Mammals: Extent, Effects, and Evolution.	Faulkner GJ et al.	—	2017	→
Mov10 suppresses retroelements and regulates neuronal development and function in the developing brain.	Skariah G et al.	—	2017	→
Pivotal Impacts of Retrotransposon Based Invasive RNAs on Evolution.	Habibi L et al.	—	2017	→
Transcriptional Noise and Somatic Mutations in the Aging Pancreas.	Swisa A et al.	—	2017	→
Ultraaccurate genome sequencing and haplotyping of single human cells.	Chu WK et al.	—	2017	→