Research models of neurodevelopmental disorders: The right model in the right place

Amplification of human interneuron progenitors promotes brain tumors and neurological defects

(2022) Oliver L. Eichmüller et al.   SCIENCE

Diagnostic Approach to Macrocephaly in Children

(2022) Andrea Accogli et al.   Frontiers in Pediatrics

Human cerebral organoids reveal progenitor pathology in EML1‐linked cortical malformation

(2022) Ammar Jabali et al.   EMBO REPORTS

Modeling Human Primary Microcephaly With hiPSC-Derived Brain Organoids Carrying CPAP-E1235V Disease-Associated Mutant Protein

(2022) Hsiao-Lung An et al.   Frontiers in Cell and Developmental Biology

Hybrid brains: the ethics of transplanting human neurons into animals

(2022) Kendall Powell   NATURE

Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals

(2022) Anneline Pinson et al.   SCIENCE

Mapping the molecular and cellular complexity of cortical malformations

(2021) Esther Klingler et al.   SCIENCE

Genetic Mechanisms Underlying Cortical Evolution in Mammals

(2021) Lucía Florencia Franchini   Frontiers in Cell and Developmental Biology

Transcriptome profiling of human pluripotent stem cell‐derived cerebellar organoids reveals faster commitment under dynamic conditions

(2021) Teresa P. Silva et al.   BIOTECHNOLOGY AND BIOENGINEERING

Generation of hypothalamic arcuate organoids from human induced pluripotent stem cells

(2021) Wei-Kai Huang et al.   Cell Stem Cell

Update on the Molecular Genetics of Timothy Syndrome

(2021) Rosemary Bauer et al.   Frontiers in Pediatrics

Genome-Wide Association Study of Motor Coordination

(2021) Hayley S. Mountford et al.   Frontiers in Human Neuroscience

A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies

(2021) Yunhee Kang et al.   NATURE NEUROSCIENCE

Harnessing cerebral organoids for Alzheimer's disease research

(2021) Adele Bubnys et al.   CURRENT OPINION IN NEUROBIOLOGY

Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

(2021) Christina Kyrousi et al.   Nature Communications

Chicken embryo as animal model to study drug distribution to the developing brain

(2021) Denis Zosen et al.   JOURNAL OF PHARMACOLOGICAL AND TOXICOLOGICAL METHODS

Cerebral organoid and mouse models reveal a RAB39b–PI3K–mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes

(2020) Wei Zhang et al.   GENES & DEVELOPMENT

Potassium channel dysfunction in human neuronal models of Angelman syndrome

(2020) Alfred Xuyang Sun et al.   SCIENCE

Neonatal 6-OHDA Lesion Model in Mouse Induces Cognitive Dysfunctions of Attention-Deficit/Hyperactivity Disorder (ADHD) During Young Age

(2020) Otmane Bouchatta et al.   Frontiers in Behavioral Neuroscience

TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling

(2020) Pauline Martin et al.   Molecular Autism

ECE 2 regulates neurogenesis and neuronal migration during human cortical development

(2020) Isabel Y Buchsbaum et al.   EMBO REPORTS

Loss of CPAP in developing mouse brain and its functional implication in human primary microcephaly

(2020) Yi-Nan Lin et al.   JOURNAL OF CELL SCIENCE

Zika Virus and the Risk of Developing Microcephaly in Infants: A Systematic Review

(2020) Evangelia Antoniou et al.   International Journal of Environmental Research and Public Health

Transcriptomic Landscape and Functional Characterization of Induced Pluripotent Stem Cell–Derived Cerebral Organoids in Schizophrenia

(2020) Annie Kathuria et al.   JAMA Psychiatry

Definitions and classification of malformations of cortical development: practical guidelines

(2020) Mariasavina Severino et al.   BRAIN

Dysregulation of BRD4 Function Underlies the Functional Abnormalities of MeCP2 Mutant Neurons

(2020) Yangfei Xiang et al.   MOLECULAR CELL

Developmental excitation-inhibition imbalance underlying psychoses revealed by single-cell analyses of discordant twins-derived cerebral organoids

(2020) Tomoyo Sawada et al.   MOLECULAR PSYCHIATRY

Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset

(2020) Michael Heide et al.   SCIENCE

Modelling neurodegenerative disease using brain organoids

(2020) Selina Wray   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Neurodevelopmental Disorders: From Genetics to Functional Pathways

(2020) Ilaria Parenti et al.   TRENDS IN NEUROSCIENCES

Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia

(2020) Alessandro Gialluisi et al.   MOLECULAR PSYCHIATRY

Opportunities and limitations of genetically modified nonhuman primate models for neuroscience research

(2020) Guoping Feng et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Basal Progenitor Morphology and Neocortex Evolution

(2020) Nereo Kalebic et al.   TRENDS IN NEUROSCIENCES

Patient-Derived Midbrain Organoids to Explore the Molecular Basis of Parkinson's Disease

(2020) Benjamin Galet et al.   Frontiers in Neurology

Generation of human striatal organoids and cortico-striatal assembloids from human pluripotent stem cells

(2020) Yuki Miura et al.   NATURE BIOTECHNOLOGY

The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets

(2020) Ayako Y. Murayama et al.   Scientific Reports

Linking Autism Risk Genes to Disruption of Cortical Development

(2020) Marta Garcia-Forn et al.   Cells

The Extracellular Matrix in the Evolution of Cortical Development and Folding

(2020) Salma Amin et al.   Frontiers in Cell and Developmental Biology

Modeling Rett Syndrome With Human Patient-Specific Forebrain Organoids

(2020) Ana Rita Gomes et al.   Frontiers in Cell and Developmental Biology

Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia

(2019) Surajit Sahu et al.   EPILEPSIA

Modeling G2019S-LRRK2 Sporadic Parkinson's Disease in 3D Midbrain Organoids

(2019) Hongwon Kim et al.   Stem Cell Reports

Flow-enhanced vascularization and maturation of kidney organoids in vitro

(2019) Kimberly A. Homan et al.   NATURE METHODS

Altered neuronal migratory trajectories in human cerebral organoids derived from individuals with neuronal heterotopia

(2019) Johannes Klaus et al.   NATURE MEDICINE

Altered serotonergic circuitry in SSRI-resistant major depressive disorder patient-derived neurons

(2019) Krishna C. Vadodaria et al.   MOLECULAR PSYCHIATRY

Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death

(2019) Ambrosia J Simmons et al.   HUMAN MOLECULAR GENETICS

Prevalence of neuropsychiatric symptoms associated with malformations of cortical development

(2019) Cyrus S.H. Ho et al.   EPILEPSY & BEHAVIOR

hESC-Derived Thalamic Organoids Form Reciprocal Projections When Fused with Cortical Organoids

(2019) Yangfei Xiang et al.   Cell Stem Cell

Brain organoids: advances, applications and challenges

(2019) Xuyu Qian et al.   DEVELOPMENT

Using brain organoids to study human neurodevelopment, evolution and disease

(2019) Christina Kyrousi et al.   Wiley Interdisciplinary Reviews-Developmental Biology

Individual brain organoids reproducibly form cell diversity of the human cerebral cortex

(2019) Silvia Velasco et al.   NATURE

Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility

(2019) Hyejung Won et al.   Nature Communications

Modeling microcephaly with cerebral organoids reveals a WDR62–CEP170–KIF2A pathway promoting cilium disassembly in neural progenitors

(2019) Wei Zhang et al.   Nature Communications

Using Macaques to Address Critical Questions in Zika Virus Research

(2019) Dawn M. Dudley et al.   Annual Review of Virology

Genetic Causes and Modifiers of Autism Spectrum Disorder

(2019) Lauren Rylaarsdam et al.   Frontiers in Cellular Neuroscience

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia

(2019) Ana Uzquiano et al.   Cell Reports

EML1‐ associated brain overgrowth syndrome with ribbon‐like heterotopia

(2019) Renske Oegema et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

(2019) Kellen D. Winden et al.   JOURNAL OF NEUROSCIENCE

Organoid single-cell genomic atlas uncovers human-specific features of brain development

(2019) Sabina Kanton et al.   NATURE

Anatomical and diffusion MRI brain atlases of the fetal rhesus macaque brain at 85, 110 and 135 days gestation

(2019) Zheng Liu et al.   NEUROIMAGE

Brain Organoids: Human Neurodevelopment in a Dish

(2019) Silvia Benito-Kwiecinski et al.   Cold Spring Harbor Perspectives in Biology

Mechanisms of hyperexcitability in Alzheimer’s disease hiPSC-derived neurons and cerebral organoids vs isogenic controls

(2019) Swagata Ghatak et al.   eLife

Pten haploinsufficiency disrupts scaling across brain areas during development in mice

(2019) Amy E. Clipperton-Allen et al.   Translational Psychiatry

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis

(2018) Ian T. Fiddes et al.   CELL

An Immunocompetent Mouse Model of Zika Virus Infection

(2018) Matthew J. Gorman et al.   Cell Host & Microbe

Prenatal exposure to bisphenol A and hyperactivity in children: a systematic review and meta-analysis

(2018) Johanna R. Rochester et al.   ENVIRONMENT INTERNATIONAL

Drug screening for human genetic diseases using iPSC models

(2018) Matthew S Elitt et al.   HUMAN MOLECULAR GENETICS

Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size

(2018) Matthew B. Johnson et al.   NATURE

An in vivo model of functional and vascularized human brain organoids

(2018) Abed AlFatah Mansour et al.   NATURE BIOTECHNOLOGY

Human brain organoids on a chip reveal the physics of folding

(2018) Eyal Karzbrun et al.   Nature Physics

Generation of human brain region–specific organoids using a miniaturized spinning bioreactor

(2018) Xuyu Qian et al.   Nature Protocols

Faulty neuronal determination and cell polarization are reverted by modulating HD early phenotypes

(2018) P. Conforti et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of a human induced pluripotent stem cell (iPSC) line from a 51-year-old female with attention-deficit/hyperactivity disorder (ADHD) carrying a duplication of SLC2A3

(2018) Charline Jansch et al.   Stem Cell Research

Mob2 Insufficiency Disrupts Neuronal Migration in the Developing Cortex

(2018) Adam C. O’Neill et al.   Frontiers in Cellular Neuroscience

Consequences of in utero exposure to Zika virus in offspring of AG129 mice

(2018) Justin G. Julander et al.   Scientific Reports

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

(2018) Erin L. Heinzen et al.   PLoS Genetics

Zika virus infection in immunocompetent pregnant mice causes fetal damage and placental pathology in the absence of fetal infection

(2018) Frank M. Szaba et al.   PLoS Pathogens

Shared effects of DISC1 disruption and elevated WNT signaling in human cerebral organoids

(2018) Priya Srikanth et al.   Translational Psychiatry

Behavioral Phenotyping of Dopamine Transporter Knockout Rats: Compulsive Traits, Motor Stereotypies, and Anhedonia

(2018) Stefano Cinque et al.   Frontiers in Psychiatry

Disruption of glial cell development by Zika virus contributes to severe microcephalic newborn mice

(2018) Cui Li et al.   Cell Discovery

Neural progenitors derived from Tuberous Sclerosis Complex patients exhibit attenuated PI3K/AKT signaling and delayed neuronal differentiation

(2018) Avery J. Zucco et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Modeling amyloid beta and tau pathology in human cerebral organoids

(2018) Cesar Gonzalez et al.   MOLECULAR PSYCHIATRY

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

(2018) Mari E. K. Niemi et al.   NATURE

Extracellular Matrix Components HAPLN1, Lumican, and Collagen I Cause Hyaluronic Acid-Dependent Folding of the Developing Human Neocortex

(2018) Katherine R. Long et al.   NEURON

Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development

(2018) Richard S. Smith et al.   NEURON

Human Models Are Needed for Studying Human Neurodevelopmental Disorders

(2018) Xinyu Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single cell transcriptome analysis of human, marmoset and mouse embryos reveals common and divergent features of preimplantation development

(2018) Thorsten Boroviak et al.   DEVELOPMENT

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

(2018) Mingfeng Li et al.   SCIENCE

Transcriptome and epigenome landscape of human cortical development modeled in organoids

(2018) Anahita Amiri et al.   SCIENCE

Cell cycle inhibitors protect motor neurons in an organoid model of Spinal Muscular Atrophy

(2018) Jin Hui Hor et al.   Cell Death & Disease

Microglia innately develop within cerebral organoids

(2018) Paul R. Ormel et al.   Nature Communications

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

(2018) Adam C. O’Neill et al.   Cell Reports

Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype

(2018) Attya Omer Javed et al.   Cell Reports

Microphysiological 3D model of amyotrophic lateral sclerosis (ALS) from human iPS-derived muscle cells and optogenetic motor neurons

(2018) Tatsuya Osaki et al.   Science Advances

Pathophysiological analyses of periventricular nodular heterotopia using gyrencephalic mammals

(2017) Naoyuki Matsumoto et al.   HUMAN MOLECULAR GENETICS

Inhibition of p25/Cdk5 Attenuates Tauopathy in Mouse and iPSC Models of Frontotemporal Dementia

(2017) Jinsoo Seo et al.   JOURNAL OF NEUROSCIENCE

An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis

(2017) M Shahsavani 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

Assembly of functionally integrated human forebrain spheroids

(2017) Fikri Birey et al.   NATURE

Cell diversity and network dynamics in photosensitive human brain organoids

(2017) Giorgia Quadrato et al.   NATURE

Generation of pure GABAergic neurons by transcription factor programming

(2017) Nan Yang et al.   NATURE METHODS

Fused cerebral organoids model interactions between brain regions

(2017) Joshua A Bagley et al.   NATURE METHODS

Human induced pluripotent stem cells for modelling neurodevelopmental disorders

(2017) Karthikeyan Ardhanareeswaran et al.   Nature Reviews Neurology

iPSC-Derived Human Microglia-like Cells to Study Neurological Diseases

(2017) Edsel M. Abud et al.   NEURON

Disease Modeling in Stem Cell-Derived 3D Organoid Systems

(2017) Devanjali Dutta et al.   TRENDS IN MOLECULAR MEDICINE

Dynamic behaviour of human neuroepithelial cells in the developing forebrain

(2017) Lakshmi Subramanian et al.   Nature Communications

Self-Organized Cerebral Organoids with Human-Specific Features Predict Effective Drugs to Combat Zika Virus Infection

(2017) Momoko Watanabe 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

Human mutations in integrator complex subunits link transcriptome integrity to brain development

(2017) Renske Oegema et al.   PLoS Genetics

Highly efficient maternal-fetal Zika virus transmission in pregnant rhesus macaques

(2017) Sydney M. Nguyen et al.   PLoS Pathogens

Recapitulating cortical development with organoid culture in vitro and modeling abnormal spindle-like (ASPM related primary) microcephaly disease

(2017) Rui Li et al.   Protein & Cell

Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians

(2017) Cynthia A. Moore et al.   JAMA Pediatrics

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

(2017) Marc Woodbury-Smith et al.   Molecular Autism

Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism

(2017) Kit San Yeung et al.   Molecular Autism

Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities

(2017) Yaqin Li et al.   Stem Cell Reports

Eml1 loss impairs apical progenitor spindle length and soma shape in the developing cerebral cortex

(2017) Sara Bizzotto et al.   Scientific Reports

Malformations of cortical development

(2016) Rahul S. Desikan et al.   ANNALS OF NEUROLOGY

Brain-Region-Specific Organoids Using Mini-bioreactors for Modeling ZIKV Exposure

(2016) Xuyu Qian et al.   CELL

Zika Virus Disrupts Neural Progenitor Development and Leads to Microcephaly in Mice

(2016) Cui Li et al.   Cell Stem Cell

Neurodevelopmental Disorders (ASD and ADHD): DSM-5, ICD-10, and ICD-11

(2016) Ellen Doernberg et al.   CNS SPECTRUMS

Zika virus infection disrupts neurovascular development and results in postnatal microcephaly with brain damage

(2016) Qiang Shao et al.   DEVELOPMENT

CPAP promotes timely cilium disassembly to maintain neural progenitor pool

(2016) Elke Gabriel et al.   EMBO JOURNAL

Selective Disruption of Metabotropic Glutamate Receptor 5-Homer Interactions Mimics Phenotypes of Fragile X Syndrome in Mice

(2016) W. Guo et al.   JOURNAL OF NEUROSCIENCE

The Brazilian Zika virus strain causes birth defects in experimental models

(2016) Fernanda R. Cugola et al.   NATURE

Mutations in the HECT domain of NEDD4L lead to AKT–mTOR pathway deregulation and cause periventricular nodular heterotopia

(2016) Loïc Broix et al.   NATURE GENETICS

Epigenomic annotation of gene regulatory alterations during evolution of the primate brain

(2016) Marit W Vermunt et al.   NATURE NEUROSCIENCE

Autism genetics - an overview

(2016) Jiani Yin et al.   PRENATAL DIAGNOSIS

Generation of urine iPS cell lines from patients with Attention Deficit Hyperactivity Disorder (ADHD) using a non-integrative method

(2016) Jaroslaw Sochacki et al.   Stem Cell Research

Systemic Radical Scavenger Treatment of a Mouse Model of Rett Syndrome: Merits and Limitations of the Vitamin E Derivative Trolox

(2016) Oliwia A. Janc et al.   Frontiers in Cellular Neuroscience

mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

(2016) Veronica Costa et al.   Cell Reports

The hominoid-specific gene TBC1D3 promotes generation of basal neural progenitors and induces cortical folding in mice

(2016) Xiang-Chun Ju et al.   eLife

Three Dimensional Human Neuro-Spheroid Model of Alzheimer’s Disease Based on Differentiated Induced Pluripotent Stem Cells

(2016) Han-Kyu Lee et al.   PLoS One

Autism spectrum disorder in Prader-Willi syndrome: A systematic review

(2015) Jeffrey A. Bennett et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Prenatal head growth and child neuropsychological development at age 14 months

(2015) Dolores Álamo-Junquera et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Generation of neuropeptidergic hypothalamic neurons from human pluripotent stem cells

(2015) F. T. Merkle et al.   DEVELOPMENT

Behavioral phenotypes of genetic mouse models of autism

(2015) T. M. Kazdoba et al.   GENES BRAIN AND BEHAVIOR

Generation of functional human serotonergic neurons from fibroblasts

(2015) K C Vadodaria et al.   MOLECULAR PSYCHIATRY

Differential responses to lithium in hyperexcitable neurons from patients with bipolar disorder

(2015) Jerome Mertens et al.   NATURE

Human cerebral organoids recapitulate gene expression programs of fetal neocortex development

(2015) J. Gray Camp et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human pluripotent stem cell-derived neural constructs for predicting neural toxicity

(2015) Michael P. Schwartz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion

(2015) M. Florio et al.   SCIENCE

Increased Expression of the PI3K Enhancer PIKE Mediates Deficits in Synaptic Plasticity and Behavior in Fragile X Syndrome

(2015) Christina Gross et al.   Cell Reports

Polymicrogyria: A common and heterogeneous malformation of cortical development

(2014) Chloe A. Stutterd et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Causes and Consequences of Gray Matter Heterotopia

(2014) Françoise Watrin et al.   CNS Neuroscience & Therapeutics

Role of radial glial cells in cerebral cortex folding

(2014) Víctor Borrell et al.   CURRENT OPINION IN NEUROBIOLOGY

Transgenerational Transmission of Hyperactivity in a Mouse Model of ADHD

(2014) J. Zhu et al.   JOURNAL OF NEUROSCIENCE

Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human

(2014) Michel Kielar et al.   NATURE NEUROSCIENCE

Cortical neurogenesis in the absence of centrioles

(2014) Ryan Insolera et al.   NATURE NEUROSCIENCE

Generation of cerebral organoids from human pluripotent stem cells

(2014) Madeline A Lancaster et al.   Nature Protocols

Growth and folding of the mammalian cerebral cortex: from molecules to malformations

(2014) Tao Sun et al.   NATURE REVIEWS NEUROSCIENCE

Modeling Hippocampal Neurogenesis Using Human Pluripotent Stem Cells

(2014) Diana Xuan Yu et al.   Stem Cell Reports

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly andPTENmutations

(2013) Adeline Vanderver et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

(2013) Thomas D. Cushion et al.   BRAIN

DNA damage response in microcephaly development of MCPH1 mouse model

(2013) Zhong-Wei Zhou et al.   DNA REPAIR

Regulation of cerebral cortex size and folding by expansion of basal progenitors

(2013) Miki Nonaka-Kinoshita et al.   EMBO JOURNAL

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse

(2013) R.W. Stottmann et al.   HUMAN MOLECULAR GENETICS

The zebrafish reference genome sequence and its relationship to the human genome

(2013) Kerstin Howe et al.   NATURE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

(2013) Silvia Cappello et al.   NATURE GENETICS

Precursor Diversity and Complexity of Lineage Relationships in the Outer Subventricular Zone of the Primate

(2013) Marion Betizeau et al.   NEURON

Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome

(2013) Jingyin Yue et al.   PLoS One

Self-organization of axial polarity, inside-out layer pattern, and species-specific progenitor dynamics in human ES cell-derived neocortex

(2013) T. Kadoshima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sex-specific epigenetic disruption and behavioral changes following low-dose in utero bisphenol A exposure

(2013) M. Kundakovic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A developmental and genetic classification for malformations of cortical development: update 2012

(2012) A. James Barkovich et al.   BRAIN

Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease

(2012) Adriana Sánchez-Danés et al.   EMBO Molecular Medicine

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

(2012) Renzo Guerrini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder

(2012) I Jarick et al.   MOLECULAR PSYCHIATRY

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

(2012) Jeong Ho Lee et al.   NATURE GENETICS

Rediscovering the chick embryo as a model to study retinal development

(2012) M Natalia Vergara et al.   Neural Development

Astrocytes generated from patient induced pluripotent stem cells recapitulate features of Huntington’s disease patient cells

(2012) Tarja A Juopperi et al.   Molecular Brain

Disruption of Mouse Cenpj, a Regulator of Centriole Biogenesis, Phenocopies Seckel Syndrome

(2012) Rebecca E. McIntyre et al.   PLoS Genetics

Rett Syndrome: Genes, Synapses, Circuits, and Therapeutics

(2012) Abhishek Banerjee et al.   Frontiers in Psychiatry

The microcephaly gene aspm is involved in brain development in zebrafish

(2011) Hyun-Taek Kim et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Drosophila modeling of heritable neurodevelopmental disorders

(2011) Cheryl L Gatto et al.   CURRENT OPINION IN NEUROBIOLOGY

Mechanisms of neurocognitive dysfunction and therapeutic considerations in tuberous sclerosis complex

(2011) Peter Tsai et al.   CURRENT OPINION IN NEUROLOGY

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A

(2011) Aurelie Carabalona et al.   HUMAN MOLECULAR GENETICS

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

(2011) Irina Voineagu et al.   NATURE

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

(2011) Josephine Elia et al.   NATURE GENETICS

A new subtype of progenitor cell in the mouse embryonic neocortex

(2011) Xiaoqun Wang et al.   NATURE NEUROSCIENCE

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III

(2010) Gordana Juric-Sekhar et al.   ACTA NEUROPATHOLOGICA

Mutations in Centrosomal Protein CEP152 in Primary Microcephaly Families Linked to MCPH4

(2010) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

(2010) Richard J. Leventer et al.   BRAIN

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Spontaneous Epileptic Manifestations in a DCX Knockdown Model of Human Double Cortex

(2010) Damien Lapray et al.   CEREBRAL CORTEX

The clinical patterns and molecular genetics of lissencephaly and subcortical band heterotopia

(2010) William B. Dobyns   EPILEPSIA

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

(2010) Karine Poirier et al.   HUMAN MOLECULAR GENETICS

A novel Akt3 mutation associated with enhanced kinase activity and seizure susceptibility in mice

(2010) S. Tokuda et al.   HUMAN MOLECULAR GENETICS

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree

(2010) K-P Lesch et al.   MOLECULAR PSYCHIATRY

Neurogenic radial glia in the outer subventricular zone of human neocortex

(2010) David V. Hansen et al.   NATURE

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

(2010) Timothy W Yu et al.   NATURE GENETICS

Phthalates Exposure and Attention-Deficit/Hyperactivity Disorder in School-Age Children

(2009) Bung-Nyun Kim et al.   BIOLOGICAL PSYCHIATRY

Occupational Outcome in Adult ADHD: Impact of Symptom Profile, Comorbid Psychiatric Problems, and Treatment

(2009) Anne Halmøy et al.   Journal of Attention Disorders

A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism

(2009) Aleksandra Mineyko et al.   JOURNAL OF CHILD NEUROLOGY

Distinct Dose-Dependent Cortical Neuronal Migration and Neurite Extension Defects in Lis1 and Ndel1 Mutant Mice

(2009) Y. H. Youn et al.   JOURNAL OF NEUROSCIENCE

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2009) S. Ashwal et al.   NEUROLOGY

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

Frontal cortex subdivision patterning is coordinately regulated byFgf8,Fgf17, andEmx2

(2008) Jeremy A. Cholfin et al.   JOURNAL OF COMPARATIVE NEUROLOGY

GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination

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Miller–Dieker syndrome, type 1 lissencephaly

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Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

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