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

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

(2017) Jack A Kosmicki et al.   NATURE GENETICS

brain-coX: investigating and visualising gene co-expression in seven human brain transcriptomic datasets

(2017) Saskia Freytag et al.   Genome Medicine

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

(2017) Renske Oegema et al.   PLoS Genetics

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek 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

Microtubule-associated protein 1b is required for shaping the neural tube

(2016) Pradeepa Jayachandran et al.   Neural Development

Expansion of the Gene Ontology knowledgebase and resources

(2016)   NUCLEIC ACIDS RESEARCH

A Functional Switch of NuRD Chromatin Remodeling Complex Subunits Regulates Mouse Cortical Development

(2016) Justyna Nitarska et al.   Cell Reports

Incorporating Functional Information in Tests of Excess De Novo Mutational Load

(2015) Yu Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetics of Neuropsychiatric Diseases: Looking In and Beyond the Exome

(2015) Erin L. Heinzen et al.   Annual Review of Neuroscience

Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy

(2015) Zianka Fallil et al.   EPILEPSY & BEHAVIOR

Rcan1 Deficiency Impairs Neuronal Migration and Causes Periventricular Heterotopia

(2015) Y. Li et al.   JOURNAL OF NEUROSCIENCE

Genome-wide patterns and properties of de novo mutations in humans

(2015) Laurent C Francioli et al.   NATURE GENETICS

Cytoskeletal proteins in cortical development and disease: actin associated proteins in periventricular heterotopia

(2015) Gewei Lian et al.   Frontiers in Cellular Neuroscience

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

(2015) Slavé Petrovski et al.   PLoS Genetics

The Molecular Signatures Database Hallmark Gene Set Collection

(2015) Arthur Liberzon et al.   Cell Systems

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parental expression is overvalued in the interpretation of rare inherited variants

(2014) Gregory Costain   EUROPEAN JOURNAL OF HUMAN GENETICS

The Tumor Suppressor Chromodomain Helicase DNA-binding Protein 5 (CHD5) Remodels Nucleosomes by Unwrapping

(2014) Jinhua Quan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Proliferative Defects and Formation of a Double Cortex in Mice Lacking Mltt4 and Cdh2 in the Dorsal Telencephalon

(2014) C. Gil-Sanz et al.   JOURNAL OF NEUROSCIENCE

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Whole-genome sequence variation, population structure and demographic history of the Dutch population

(2014) Laurent C Francioli et al.   NATURE GENETICS

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

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

(2014) Michel Kielar et al.   NATURE NEUROSCIENCE

Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors

(2014) Ketu Mishra-Gorur et al.   NEURON

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

(2014) Karen L. Oliver et al.   PLoS One

The role of α-E-catenin in cerebral cortex development: radial glia specific effect on neuronal migration

(2014) Marie-Theres Schmid et al.   Frontiers in Cellular Neuroscience

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

(2014) B. J. O'Roak et al.   Nature Communications

Bilateral Posterior Periventricular Nodular Heterotopia: A Recognizable Cortical Malformation with a Spectrum of Associated Brain Abnormalities

(2013) S.A. Mandelstam et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

(2013) Valerio Conti et al.   BRAIN

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

(2012) Dan Doherty et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) A. James Barkovich et al.   BRAIN

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

(2012) T. Pisano et al.   NEUROLOGY

A Radial Glia-Specific Role of RhoA in Double Cortex Formation

(2012) Silvia Cappello et al.   NEURON

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

A Novel PCDH19 Mutation Inherited From an Unaffected Mother

(2012) Petia S. Dimova et al.   PEDIATRIC NEUROLOGY

Using control genes to correct for unwanted variation in microarray data

(2011) J. A. Gagnon-Bartsch et al.   BIOSTATISTICS

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Temporal dynamics and genetic control of transcription in the human prefrontal cortex

(2011) Carlo Colantuoni et al.   NATURE

Deficiency of mDia, an Actin Nucleator, Disrupts Integrity of Neuroepithelium and Causes Periventricular Dysplasia

(2011) Dean Thumkeo et al.   PLoS One

MAP1B Regulates Axonal Development by Modulating Rho-GTPase Rac1 Activity

(2010) Carolina Montenegro-Venegas et al.   MOLECULAR BIOLOGY OF THE CELL