Christopher Walsh, MD, PhD
Chief, Division of Genetics and Genomics
Bullard Professor of Pediatrics and Neurology at Harvard Medical School
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Christopher Walsh, MD, PhD
Chief, Division of Genetics and Genomics
Bullard Professor of Pediatrics and Neurology at Harvard Medical School
Medical Services
Languages
English
Education
Undergraduate School
Bucknell University
1978
Lewisburg
PA
Graduate School
PhD, Neurobiology
University of Chicago
1983
Chicago
IL
Medical School
Pritzker School of Medicine, The University of Chicago
1985
Chicago
IL
Internship
Medicine
Massachusetts General Hospital
1985
Boston
MA
Residency
Neurology
Massachusetts General Hospital
1986
Boston
MA
Fellowship
Neurology and Genetics
Massachusetts General Hospital
1989
Boston
MA
Certifications
American Board of Psychiatry and Neurology (Neurology)
Publications
Spatial transcriptomics reveals human cortical layer and area specification. View Abstract
Advances in single-cell DNA sequencing enable insights into human somatic mosaicism. View Abstract
Clinical and Neuropsychological Phenotyping of Individuals With Somatic Variants in Neurodevelopmental Disorders. View Abstract
FOS binding sites are a hub for the evolution of activity-dependent gene regulatory programs in human neurons. View Abstract
Human-chimpanzee tetraploid system defines mechanisms of species-specific neural gene regulation. View Abstract
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders. View Abstract
Biophysical basis for brain folding and misfolding patterns in ferrets and humans. View Abstract
Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy. View Abstract
Autism-Associated Genes and Neighboring lncRNAs Converge on Key Gene Regulatory Networks. View Abstract
Applying single-cell and single-nucleus genomics to studies of cellular heterogeneity and cell fate transitions in the nervous system. View Abstract
Neurodevelopmental disorders associated variants in ADAT3 disrupt the activity of the ADAT2/ADAT3 tRNA deaminase complex and impair neuronal migration. View Abstract
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. View Abstract
Conserved transcriptional regulation by BRN1 and BRN2 in neocortical progenitors drives mammalian neural specification and neocortical expansion. View Abstract
Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain. View Abstract
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders. View Abstract
Neuropathologically directed profiling of PRNP somatic and germline variants in sporadic human prion disease. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk. View Abstract
Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals. View Abstract
Neuropathologically-directed profiling of PRNP somatic and germline variants in sporadic human prion disease. View Abstract
Rare germline disorders implicate long non-coding RNAs disrupted by chromosomal structural rearrangements. View Abstract
Spatial Single-cell Analysis Decodes Cortical Layer and Area Specification. View Abstract
ARX regulates cortical interneuron differentiation and migration. View Abstract
Single-nucleus multi-omic profiling of polyploid heart nuclei identifies fusion-derived cardiomyocytes in the human heart. View Abstract
Cell-type-specific effects of autism-associated chromosome 15q11.2-13.1 duplications in human brain. View Abstract
BRN1/2 Function in Neocortical Size Determination and Microcephaly. View Abstract
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
Contrasting somatic mutation patterns in aging human neurons and oligodendrocytes. View Abstract
Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia. View Abstract
Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer's disease microglia. View Abstract
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. View Abstract
Neurosurgery elucidates somatic mutations. View Abstract
Shaping the brain: The emergence of cortical structure and folding. View Abstract
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. View Abstract
An evolutionary perspective on complex neuropsychiatric disease. View Abstract
Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex. View Abstract
Comparative transcriptomics reveals human-specific cortical features. View Abstract
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. View Abstract
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. View Abstract
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk. View Abstract
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria. View Abstract
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions. View Abstract
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. View Abstract
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. View Abstract
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome. View Abstract
Bi-allelic variants in INTS11 are associated with a complex neurological disorder. View Abstract
A neural stem cell paradigm of pediatric hydrocephalus. View Abstract
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. View Abstract
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system. View Abstract
Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain. View Abstract
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. View Abstract
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. View Abstract
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. View Abstract
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements. View Abstract
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. View Abstract
Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity. View Abstract
Landscape of somatic mutations in aging human heart muscle cells. View Abstract
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. View Abstract
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. View Abstract
The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. View Abstract
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. View Abstract
Somatic genomic changes in single Alzheimer's disease neurons. View Abstract
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. View Abstract
Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders. View Abstract
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder. View Abstract
Brain ventricles as windows into brain development and disease. View Abstract
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. View Abstract
Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. View Abstract
Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions. View Abstract
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. View Abstract
Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain. View Abstract
Application of single cell genomics to focal epilepsies: A call to action. View Abstract
Early role for a Na+,K+-ATPase (ATP1A3) in brain development. View Abstract
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. View Abstract
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. View Abstract
Brain Somatic Mutation in Aging and Alzheimer's Disease. View Abstract
Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial. View Abstract
Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. View Abstract
Comprehensive identification of somatic nucleotide variants in human brain tissue. View Abstract
Landmarks of human embryonic development inscribed in somatic mutations. View Abstract
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. View Abstract
MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations. View Abstract
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. View Abstract
Large mosaic copy number variations confer autism risk. View Abstract
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. View Abstract
Somatic copy number variants in neuropsychiatric disorders. View Abstract
The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets. View Abstract
Author Correction: Innovations present in the primate interneuron repertoire. View Abstract
Polymicrogyria is Associated With Pathogenic Variants in PTEN. View Abstract
Innovations present in the primate interneuron repertoire. View Abstract
Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. View Abstract
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. View Abstract
APP gene copy number changes reflect exogenous contamination. View Abstract
Jettison-MS of Nucleic Acid Species. View Abstract
Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain. View Abstract
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. View Abstract
Recent Advances in Understanding the Genetic Architecture of Autism. View Abstract
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. View Abstract
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. View Abstract
Ion Channel Functions in Early Brain Development. View Abstract
Accurate detection of mosaic variants in sequencing data without matched controls. View Abstract
In Memoriam: Frederick Andermann, MD. View Abstract
Duplication 2p16 is associated with perisylvian polymicrogyria. View Abstract
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. View Abstract
Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms. View Abstract
Recessive gene disruptions in autism spectrum disorder. View Abstract
SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL. View Abstract
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. View Abstract
Linked-read analysis identifies mutations in single-cell DNA-sequencing data. View Abstract
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. View Abstract
Somatic mosaicism and neurodevelopmental disease. View Abstract
Rainer W. Guillery and the genetic analysis of brain development. View Abstract
Genomic and phenotypic delineation of congenital microcephaly. View Abstract
Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. View Abstract
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. View Abstract
The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position. View Abstract
Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions. View Abstract
The Genetics of Primary Microcephaly. View Abstract
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. View Abstract
Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size. View Abstract
PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation. View Abstract
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations. View Abstract
Cover Image, Volume 176A, Number 2, February 2018. View Abstract
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. View Abstract
Aging and neurodegeneration are associated with increased mutations in single human neurons. View Abstract
Rare variant association test in family-based sequencing studies. View Abstract
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. View Abstract
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. View Abstract
Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. View Abstract
Biallelic mutations in human DCC cause developmental split-brain syndrome. View Abstract
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. View Abstract
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. View Abstract
Building a lineage from single cells: genetic techniques for cell lineage tracking. View Abstract
A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory. View Abstract
Cerebral cortical neuron diversity and development at single-cell resolution. View Abstract
Evolution of Osteocrin as an activity-regulated factor in the primate brain. View Abstract
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. View Abstract
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. View Abstract
Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. View Abstract
Resolving rates of mutation in the brain using single-neuron genomics. View Abstract
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. View Abstract
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. View Abstract
Somatic mutation in single human neurons tracks developmental and transcriptional history. View Abstract
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. View Abstract
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. View Abstract
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly. View Abstract
Genomic variants and variations in malformations of cortical development. View Abstract
Loss of PCLO function underlies pontocerebellar hypoplasia type III. View Abstract
Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. View Abstract
Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. View Abstract
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. View Abstract
Genetic changes shaping the human brain. View Abstract
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. View Abstract
Cell lineage analysis in human brain using endogenous retroelements. View Abstract
Katanin p80 regulates human cortical development by limiting centriole and cilia number. View Abstract
Synaptic, transcriptional and chromatin genes disrupted in autism. View Abstract
A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? View Abstract
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. View Abstract
Somatic mutations in cerebral cortical malformations. View Abstract
CC2D1A regulates human intellectual and social function as well as NF-?B signaling homeostasis. View Abstract
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. View Abstract
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. View Abstract
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. View Abstract
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. View Abstract
METTL23, a transcriptional partner of GABPA, is essential for human cognition. View Abstract
The diverse genetic landscape of neurodevelopmental disorders. View Abstract
SLC25A22 is a novel gene for migrating partial seizures in infancy. View Abstract
Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. View Abstract
Neuroscience. What are mini-brains? View Abstract
Peter Huttenlocher (1931-2013). View Abstract
G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo. View Abstract
New innovations: therapeutic opportunities for intellectual disabilities. View Abstract
Somatic mutation, genomic variation, and neurological disease. View Abstract
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. View Abstract
Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants. View Abstract
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. View Abstract
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. View Abstract
Using whole-exome sequencing to identify inherited causes of autism. View Abstract
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. View Abstract
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. View Abstract
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. View Abstract
Common genetic variants, acting additively, are a major source of risk for autism. View Abstract
Genetic causes of microcephaly and lessons for neuronal development. View Abstract
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. View Abstract
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. View Abstract
Small molecule-mediated TGF-ß type II receptor degradation promotes cardiomyogenesis in embryonic stem cells. View Abstract
Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins. View Abstract
Developmental basis for filamin-A-associated myxomatous mitral valve disease. View Abstract
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. View Abstract
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. View Abstract
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. View Abstract
Somatic activation of AKT3 causes hemispheric developmental brain malformations. View Abstract
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. View Abstract
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. View Abstract
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. View Abstract
Neurogenesis at the brain-cerebrospinal fluid interface. View Abstract
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. View Abstract
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. View Abstract
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. View Abstract
The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. View Abstract
Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. View Abstract
What disorders of cortical development tell us about the cortex: one plus one does not always make two. View Abstract
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype. View Abstract
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. View Abstract
Mutation in PQBP1 is associated with periventricular heterotopia. View Abstract
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. View Abstract
Prephenate decarboxylases: a new prephenate-utilizing enzyme family that performs nonaromatizing decarboxylation en route to diverse secondary metabolites. View Abstract
Allelic diversity in human developmental neurogenetics: insights into biology and disease. View Abstract
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. View Abstract
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. View Abstract
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. View Abstract
Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex. View Abstract
The apical complex couples cell fate and cell survival to cerebral cortical development. View Abstract
The exon junction complex component Magoh controls brain size by regulating neural stem cell division. View Abstract
Developmental and degenerative features in a complicated spastic paraplegia. View Abstract
Clinical genetic testing for patients with autism spectrum disorders. View Abstract
Genetic malformations of the human frontal lobe. View Abstract
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. View Abstract
Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation. View Abstract
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. View Abstract
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. View Abstract
Detecting natural selection by empirical comparison to random regions of the genome. View Abstract
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. View Abstract
Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control. View Abstract
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. View Abstract
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. View Abstract
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. View Abstract
Autism and brain development. View Abstract
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. View Abstract
Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment. View Abstract
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. View Abstract
Identifying autism loci and genes by tracing recent shared ancestry. View Abstract
Identification of neural outgrowth genes using genome-wide RNAi. View Abstract
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. View Abstract
Cux-1 and Cux-2 control the development of Reelin expressing cortical interneurons. View Abstract
GPR56 regulates pial basement membrane integrity and cortical lamination. View Abstract
Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. View Abstract
Association between microdeletion and microduplication at 16p11.2 and autism. View Abstract
A structural basis for reading fluency: white matter defects in a genetic brain malformation. View Abstract
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. View Abstract
Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone. View Abstract
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. View Abstract
Doublecortin is expressed in articular chondrocytes. View Abstract
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. View Abstract
A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid. View Abstract
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. View Abstract
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. View Abstract
Directed evolution of aryl carrier proteins in the enterobactin synthetase. View Abstract
Numb, neurogenesis and epithelial polarity. View Abstract
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. View Abstract
Comprehensive EMX2 genotyping of a large schizencephaly case series. View Abstract
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. View Abstract
Filamin B mutations cause chondrocyte defects in skeletal development. View Abstract
Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". View Abstract
Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration. View Abstract
The role of RELN in lissencephaly and neuropsychiatric disease. View Abstract
Insights into the gyrification of developing ferret brain by magnetic resonance imaging. View Abstract
Genes that control the size of the cerebral cortex. View Abstract
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. View Abstract
Brain evolution and uniqueness in the human genome. View Abstract
Periventricular heterotopia with complete agenesis of the corpus callosum : a case report. View Abstract
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. View Abstract
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. View Abstract
Molecular approaches to brain asymmetry and handedness. View Abstract
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. View Abstract
Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex. View Abstract
Impaired proliferation and migration in human Miller-Dieker neural precursors. View Abstract
Periventricular nodular heterotopia and Williams syndrome. View Abstract
Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. View Abstract
Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. View Abstract
Cerebellar ataxia with progressive improvement. View Abstract
Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression. View Abstract
Neocortical neuronal arrangement in Miller Dieker syndrome. View Abstract
Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. View Abstract
A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. View Abstract
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth. View Abstract
Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. View Abstract
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. View Abstract
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. View Abstract
Molecular insights into human brain evolution. View Abstract
ASPM mutations identified in patients with primary microcephaly and seizures. View Abstract
Characterization of Rho-GDIgamma and Rho-GDIalpha mRNA in the developing and mature brain with an analysis of mice with targeted deletions of Rho-GDIgamma. View Abstract
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. View Abstract
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. View Abstract
Cytoplasmic LEK1 is a regulator of microtubule function through its interaction with the LIS1 pathway. View Abstract
EMX2-independent familial schizencephaly: clinical and genetic analyses. View Abstract
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. View Abstract
Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. View Abstract
Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice. View Abstract
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. View Abstract
Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. View Abstract
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. View Abstract
Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. View Abstract
Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway. View Abstract
Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex. View Abstract
The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. View Abstract
Mitotic spindle regulation by Nde1 controls cerebral cortical size. View Abstract
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. View Abstract
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. View Abstract
A novel signaling mechanism in brain development. View Abstract
Sequential phases of cortical specification involve Neurogenin-dependent and -independent pathways. View Abstract
Broader geographical spectrum of Cohen syndrome due to COH1 mutations. View Abstract
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. View Abstract
Genetics of disorders of cortical development. View Abstract
Genetic basis of developmental malformations of the cerebral cortex. View Abstract
G protein-coupled receptor-dependent development of human frontal cortex. View Abstract
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. View Abstract
The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. View Abstract
Development. View Abstract
Infantile bilateral striatal necrosis maps to chromosome 19q. View Abstract
Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations. View Abstract
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. View Abstract
Protein-truncating mutations in ASPM cause variable reduction in brain size. View Abstract
Developmental genetic malformations of the cerebral cortex. View Abstract
Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice. View Abstract
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. View Abstract
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. View Abstract
The DCX-domain tandems of doublecortin and doublecortin-like kinase. View Abstract
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. View Abstract
Markers of cellular proliferation are expressed in cortical tubers. View Abstract
Autosomal recessive form of periventricular heterotopia. View Abstract
Periventricular heterotopia associated with chromosome 5p anomalies. View Abstract
Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons. View Abstract
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. View Abstract
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. View Abstract
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. View Abstract
ASPM is a major determinant of cerebral cortical size. View Abstract
Doublecortin is required in mice for lamination of the hippocampus but not the neocortex. View Abstract
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. View Abstract
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. View Abstract
Smooth, rough and upside-down neocortical development. View Abstract
Evidence of common progenitors and patterns of dispersion in rat striatum and cerebral cortex. View Abstract
Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. View Abstract
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. View Abstract
Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway. View Abstract
Mechanisms of cerebral cortical patterning in mice and humans. View Abstract
Telencephalic neural progenitors appear to be restricted to regional and glial fates before the onset of neurogenesis. View Abstract
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. View Abstract
Neuroscience in the post-genome era: an overview. View Abstract
Protein-protein interactions, cytoskeletal regulation and neuronal migration. View Abstract
Molecular genetics of human microcephaly. View Abstract
Callosal agenesis with cyst: a better understanding and new classification. View Abstract
Human brain malformations and their lessons for neuronal migration. View Abstract
DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization. View Abstract
LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. View Abstract
Patient mutations in doublecortin define a repeated tubulin-binding domain. View Abstract
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. View Abstract
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. View Abstract
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. View Abstract
Neuronal migration disorders: from genetic diseases to developmental mechanisms. View Abstract
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. View Abstract
Reelin binds alpha3beta1 integrin and inhibits neuronal migration. View Abstract
Proto-mapping the areas of cerebral cortex: transcription factors make the grade. View Abstract
Potential mechanisms of mutations that affect neuronal migration in man and mouse. View Abstract
A mapping label required for normal scale of body representation in the cortex. View Abstract
Genetic and neuroradiological heterogeneity of double cortex syndrome. View Abstract
Genetics of neuronal migration in the cerebral cortex. View Abstract
Cortical malformations and epilepsy. View Abstract
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. View Abstract
Perspectives: neurobiology. Cranking it up a notch. View Abstract
Coexistence of widespread clones and large radial clones in early embryonic ferret cortex. View Abstract
Genes that regulate neuronal migration in the cerebral cortex. View Abstract
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. View Abstract
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. View Abstract
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. View Abstract
Genetic malformations of the human cerebral cortex. View Abstract
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. View Abstract
Clonal mixing, clonal restriction, and specification of cell types in the developing rat olfactory bulb. View Abstract
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. View Abstract
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. View Abstract
PAK3 mutation in nonsyndromic X-linked mental retardation. View Abstract
A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3. View Abstract
LISsen up! View Abstract
X-linked female band heterotopia-male lissencephaly syndrome. View Abstract
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. View Abstract
Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype. View Abstract
Effects of PTH on PTHrP gene expression in human osteoblasts: up-regulation with the kinetics of an immediate early gene. View Abstract
Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse. View Abstract
Clonal dispersion and evidence for asymmetric cell division in ferret cortex. View Abstract
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. View Abstract
X-linked malformations of neuronal migration. View Abstract
Shaking down new epilepsy genes. View Abstract
Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. View Abstract
Neural development: identical twins separated at birth? View Abstract
Early development of the cerebral cortex. View Abstract
Systematic widespread clonal organization in cerebral cortex. View Abstract
Expression and secretion of parathyroid hormone-related protein by human bone-derived cells in vitro: effects of glucocorticoids. View Abstract
Lineage analysis using retrovirus vectors. View Abstract
Cell lineage and patterns of migration in the developing cortex. View Abstract
Clonal dispersion in proliferative layers of developing cerebral cortex. View Abstract
Cell lineage and regional specification in the mammalian neocortex. View Abstract
Lineage analysis using retrovirus vectors. View Abstract
Widespread dispersion of neuronal clones across functional regions of the cerebral cortex. View Abstract
Multipotent neural cell lines can engraft and participate in development of mouse cerebellum. View Abstract
Cell lineage and cell migration in the developing cerebral cortex. View Abstract
Studies of cortical development using retrovirus vectors. View Abstract
Clonally related cortical cells show several migration patterns. View Abstract
Changing glial organization relates to changing fiber order in the developing optic nerve of ferrets. View Abstract
Early uncrossed component of the developing optic nerve with a short extracerebral course: a light and electron microscopic study of fetal ferrets. View Abstract
Age-related fiber order in the ferret's optic nerve and optic chiasm. View Abstract
Age-related fiber order in the optic tract of the ferret. View Abstract
The topography of ganglion cell production in the cat's retina. View Abstract
A technique for flat embedding and en face sectioning of the mammalian retina for autoradiography. View Abstract
Generation of cat retinal ganglion cells in relation to central pathways. View Abstract