Mapping the molecular and cellular complexity of cortical malformations

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

(2020) Andrew Kodani et al.   NEURON

Artificial intelligence and the future of global health

(2020) Nina Schwalbe et al.   LANCET

Definitions and classification of malformations of cortical development: practical guidelines

(2020) Mariasavina Severino et al.   BRAIN

In vivo Perturb-Seq reveals neuronal and glial abnormalities associated with autism risk genes

(2020) Xin Jin et al.   SCIENCE

Reduced White Matter Fiber Density in Autism Spectrum Disorder

(2019) Dennis Dimond et al.   CEREBRAL CORTEX

A Translaminar Genetic Logic for the Circuit Identity of Intracortically Projecting Neurons

(2019) Esther Klingler et al.   CURRENT BIOLOGY

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

(2019) Surajit Sahu et al.   EPILEPSIA

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

(2019) Milka Pringsheim et al.   Annals of Clinical and Translational Neurology

Cell migration promotes dynamic cellular interactions to control cerebral cortex morphogenesis

(2019) Carla G. Silva et al.   NATURE REVIEWS NEUROSCIENCE

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

(2019) Johannes Klaus et al.   NATURE MEDICINE

Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution

(2019) Alex A. Pollen et al.   CELL

Temporal patterning of apical progenitors and their daughter neurons in the developing neocortex

(2019) L. Telley et al.   SCIENCE

Single-cell genomics identifies cell type–specific molecular changes in autism

(2019) Dmitry Velmeshev et al.   SCIENCE

The Integrative Function of Silent Synapses on Subplate Neurons in Cortical Development and Dysfunction

(2019) Patrick O. Kanold et al.   Frontiers in Neuroanatomy

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

(2019) Silvia Velasco et al.   NATURE

Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development

(2019) Elena Perenthaler et al.   Frontiers in Cellular Neuroscience

Development and Arealization of the Cerebral Cortex

(2019) Cathryn R. Cadwell et al.   NEURON

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

(2019) Ana Uzquiano et al.   Cell Reports

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

(2018) Nataliya Di Donato et al.   GENETICS IN MEDICINE

A mixed model of neuronal diversity

(2018) Ludovic Telley et al.   NATURE

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration

(2018) Ashleigh E. Schaffer et al.   NATURE GENETICS

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

(2018) Antonio F. Pardiñas et al.   NATURE GENETICS

Synaptic transmission from subplate neurons controls radial migration of neocortical neurons

(2018) Chiaki Ohtaka-Maruyama et al.   SCIENCE

Single-cell reconstruction of developmental trajectories during zebrafish embryogenesis

(2018) Jeffrey A. Farrell et al.   SCIENCE

Genetics and mechanisms leading to human cortical malformations

(2018) Delfina M. Romero et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

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

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

Progenitor Hyperpolarization Regulates the Sequential Generation of Neuronal Subtypes in the Developing Neocortex

(2018) Ilaria Vitali et al.   CELL

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

(2018) Richard S. Smith et al.   NEURON

Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia

(2018) Vanessa Plantier et al.   CEREBRAL CORTEX

The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy

(2018) Alec R. Nickolls et al.   Disease Models & Mechanisms

Somatic mosaicism and neurodevelopmental disease

(2018) Alissa M. D’Gama et al.   NATURE NEUROSCIENCE

Development and Functional Diversification of Cortical Interneurons

(2018) Lynette Lim et al.   NEURON

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

(2018) Mingfeng Li et al.   SCIENCE

Dermatologist-level classification of skin cancer with deep neural networks

(2017) Andre Esteva et al.   NATURE

The use of brain organoids to investigate neural development and disease

(2017) Elizabeth Di Lullo et al.   NATURE REVIEWS NEUROSCIENCE

SHANK proteins: roles at the synapse and in autism spectrum disorder

(2017) Patricia Monteiro et al.   NATURE REVIEWS NEUROSCIENCE

Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex

(2017) Tomasz J. Nowakowski et al.   SCIENCE

Fate and freedom in developing neocortical circuits

(2017) Denis Jabaudon   Nature Communications

Folding of the Cerebral Cortex Requires Cdk5 in Upper-Layer Neurons in Gyrencephalic Mammals

(2017) Yohei Shinmyo et al.   Cell Reports

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

(2016) Elisabetta Flex et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

(2016) Anna Winczewska-Wiktor et al.   BMC Neurology

Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex

(2016) Xiaochang Zhang et al.   CELL

Prolonged Mitosis of Neural Progenitors Alters Cell Fate in the Developing Brain

(2016) Louis-Jan Pilaz et al.   NEURON

The Cellular and Molecular Landscapes of the Developing Human Central Nervous System

(2016) John C. Silbereis et al.   NEURON

Review: Roles for astrocytes in epilepsy: insights from malformations of cortical development

(2016) M. Kielbinski et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

(2015) Laura A. Jansen et al.   BRAIN

Discrete domains of gene expression in germinal layers distinguish the development of gyrencephaly

(2015) C. de Juan Romero et al.   EMBO JOURNAL

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

(2015) Daniella Magen et al.   HUMAN GENETICS

Radial Glial Cell-Neuron Interaction Directs Axon Formation at the Opposite Side of the Neuron from the Contact Site

(2015) C. Xu et al.   JOURNAL OF NEUROSCIENCE

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

Development, evolution and pathology of neocortical subplate neurons

(2015) Anna Hoerder-Suabedissen et al.   NATURE REVIEWS NEUROSCIENCE

Cerebrospinal fluid-derived Semaphorin3B orients neuroepithelial cell divisions in the apicobasal axis

(2015) Elise Arbeille et al.   Nature Communications

Developmental disruptions underlying brain abnormalities in ciliopathies

(2015) Jiami Guo et al.   Nature Communications

Ectopic clustering of Cajal–Retzius and subplate cells is an initial pathological feature in Pomgnt2-knockout mice, a model of dystroglycanopathy

(2015) Naoki Nakagawa et al.   Scientific Reports

The Cell Biology of Neurogenesis: Toward an Understanding of the Development and Evolution of the Neocortex

(2014) Elena Taverna et al.   Annual Review of Cell and Developmental Biology

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes

(2014) Timothy J. Edwards et al.   BRAIN

The multifaceted roles of Slits and Robos in cortical circuits: from proliferation to axon guidance and neurological diseases

(2014) Heike Blockus et al.   CURRENT OPINION IN NEUROBIOLOGY

Malformations of cortical development: clinical features and genetic causes

(2014) Renzo Guerrini et al.   LANCET NEUROLOGY

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

(2014) Michel Kielar et al.   NATURE NEUROSCIENCE

Disentangling the heterogeneity of autism spectrum disorder through genetic findings

(2014) Shafali S. Jeste et al.   Nature Reviews Neurology

Patches of Disorganization in the Neocortex of Children with Autism

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

Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning

(2014) B.-I. Bae et al.   SCIENCE

Integration of gray matter nodules into functional cortical circuits in periventricular heterotopia

(2013) Joanna A. Christodoulou et al.   EPILEPSY & BEHAVIOR

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

In vivo reprogramming of circuit connectivity in postmitotic neocortical neurons

(2013) Andres De la Rossa et al.   NATURE NEUROSCIENCE

Development and Evolution of the Human Neocortex

(2011) Jan H. Lui et al.   CELL

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

(2011) Aurelie Carabalona et al.   HUMAN MOLECULAR GENETICS

Excitatory Projection Neuron Subtypes Control the Distribution of Local Inhibitory Interneurons in the Cerebral Cortex

(2011) Simona Lodato et al.   NEURON

The Somatosensory Cortex of reeler Mutant Mice Shows Absent Layering But Intact Formation and Behavioral Activation of Columnar Somatotopic Maps

(2010) R. J. Wagener et al.   JOURNAL OF NEUROSCIENCE

Diffusion imaging and tractography of congenital brain malformations

(2009) Michael Wahl et al.   PEDIATRIC RADIOLOGY

Characterization of the HeCo Mutant Mouse: A New Model of Subcortical Band Heterotopia Associated with Seizures and Behavioral Deficits

(2008) Alexandre Croquelois et al.   CEREBRAL CORTEX

Pax6 3′ deletion results in aniridia, autism and mental retardation

(2008) L. K. Davis et al.   HUMAN GENETICS

EphB Receptors Couple Dendritic Filopodia Motility to Synapse Formation

(2008) Matthew S. Kayser et al.   NEURON