Christopher A. Walsh

An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.

Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7.

Evidence of common progenitors and patterns of dispersion in rat striatum and cerebral cortex.

Smooth, rough and upside-down neocortical development.

Regulation of cerebral cortical size by control of cell cycle exit in neural precursors.

Doublecortin is required in mice for lamination of the hippocampus but not the neocortex.

ASPM is a major determinant of cerebral cortical size.

Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.

Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.

Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.

Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.

Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons.

Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.

The DCX-domain tandems of doublecortin and doublecortin-like kinase.

Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.

Markers of cellular proliferation are expressed in cortical tubers.

Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice.

Developmental genetic malformations of the cerebral cortex.

Protein-truncating mutations in ASPM cause variable reduction in brain size.

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.

Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations.

The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate.

Development.

G protein-coupled receptor-dependent development of human frontal cortex.

Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.

Genetic basis of developmental malformations of the cerebral cortex.

Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.

Genetics of disorders of cortical development.

A novel signaling mechanism in brain development.

Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex.

Mitotic spindle regulation by Nde1 controls cerebral cortical size.

The many faces of filamin: a versatile molecular scaffold for cell motility and signalling.

Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway.

Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.

Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.

EMX2-independent familial schizencephaly: clinical and genetic analyses.

Early asymmetry of gene transcription in embryonic human left and right cerebral cortex.

Cytoplasmic LEK1 is a regulator of microtubule function through its interaction with the LIS1 pathway.

The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.

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.

Molecular insights into human brain evolution.

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.

Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth.

Neocortical neuronal arrangement in Miller Dieker syndrome.

Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression.

Cerebellar ataxia with progressive improvement.

Impaired proliferation and migration in human Miller-Dieker neural precursors.

Periventricular nodular heterotopia and Williams syndrome.

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.

Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex.

Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.

Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.

Molecular approaches to brain asymmetry and handedness.

The role of RELN in lissencephaly and neuropsychiatric disease.

Brain evolution and uniqueness in the human genome.

Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis.

Insights into the gyrification of developing ferret brain by magnetic resonance imaging.

Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration.

Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens".

Comprehensive EMX2 genotyping of a large schizencephaly case series.

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.

A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.

A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid.

Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.

Doublecortin is expressed in articular chondrocytes.

Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.

Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone.

Association between microdeletion and microduplication at 16p11.2 and autism.

Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination.

Genes that control the size of the cerebral cortex.

GPR56 regulates pial basement membrane integrity and cortical lamination.

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.

Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.

Identification of neural outgrowth genes using genome-wide RNAi.

Identifying autism loci and genes by tracing recent shared ancestry.

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.

Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment.

Autism and brain development.

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control.

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.

Detecting natural selection by empirical comparison to random regions of the genome.

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.

Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation.

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.

Clinical genetic testing for patients with autism spectrum disorders.

Genetic malformations of the human frontal lobe.

The exon junction complex component Magoh controls brain size by regulating neural stem cell division.

The apical complex couples cell fate and cell survival to cerebral cortical development.

Developmental and degenerative features in a complicated spastic paraplegia.

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.

Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex.

Mutation in PQBP1 is associated with periventricular heterotopia.

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

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

Allelic diversity in human developmental neurogenetics: insights into biology and disease.

SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.

A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.

A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.

What disorders of cortical development tell us about the cortex: one plus one does not always make two.

The cerebrospinal fluid provides a proliferative niche for neural progenitor cells.

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].

COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.

Neurogenesis at the brain-cerebrospinal fluid interface.

Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.

Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.

Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.

Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins.

Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

Common genetic variants, acting additively, are a major source of risk for autism.

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.

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.

Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism.

Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan.