Christopher A. Walsh

Division of Genetics, Boston Children's Hospital

Affiliated withBoston Children's Hospital

Research Area

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JoVE Journal Publications

ArticleTotal : 1	Year
Publication title Cited by 20	2013

Other Publications

Article	Year
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. American journal of human genetics\| PubMed ID: 11845408	2002
Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Mammalian genome : official journal of the International Mammalian Genome Society\| PubMed ID: 12016511	2002
Evidence of common progenitors and patterns of dispersion in rat striatum and cerebral cortex. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 12019320	2002
Smooth, rough and upside-down neocortical development. Current opinion in genetics & development\| PubMed ID: 12076676	2002
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science (New York, N.Y.)\| PubMed ID: 12130776	2002
Doublecortin is required in mice for lamination of the hippocampus but not the neocortex. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 12196578	2002
ASPM is a major determinant of cerebral cortical size. Nature genetics\| PubMed ID: 12355089	2002
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. American journal of human genetics\| PubMed ID: 12369018	2002
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Human molecular genetics\| PubMed ID: 12393796	2002
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. Acta neuropathologica\| PubMed ID: 12410386	2002
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. American journal of medical genetics. Part A\| PubMed ID: 12548742	2003
Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons. Brain research. Developmental brain research\| PubMed ID: 12586436	2003
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. The Journal of comparative neurology\| PubMed ID: 12687690	2003
The DCX-domain tandems of doublecortin and doublecortin-like kinase. Nature structural biology\| PubMed ID: 12692530	2003
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Annals of neurology\| PubMed ID: 12730993	2003
Markers of cellular proliferation are expressed in cortical tubers. Annals of neurology\| PubMed ID: 12731003	2003
Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice. Cerebral cortex (New York, N.Y. : 1991)\| PubMed ID: 12764034	2003
Developmental genetic malformations of the cerebral cortex. Current neurology and neuroscience reports\| PubMed ID: 12914687	2003
Protein-truncating mutations in ASPM cause variable reduction in brain size. American journal of human genetics\| PubMed ID: 14574646	2003
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nature genetics\| PubMed ID: 14647276	2004
Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations. Epilepsy & behavior : E&B\| PubMed ID: 14698694	2003
The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nature genetics\| PubMed ID: 14758363	2004
Development. Current opinion in neurobiology\| PubMed ID: 15018931	2004
G protein-coupled receptor-dependent development of human frontal cortex. Science (New York, N.Y.)\| PubMed ID: 15044805	2004
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS biology\| PubMed ID: 15045028	2004
Genetic basis of developmental malformations of the cerebral cortex. Archives of neurology\| PubMed ID: 15148137	2004
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain & development\| PubMed ID: 15165674	2004
Genetics of disorders of cortical development. Neuroimaging clinics of North America\| PubMed ID: 15182816	2004
A novel signaling mechanism in brain development. Pediatric research\| PubMed ID: 15269343	2004
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nature genetics\| PubMed ID: 15322546	2004
Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex. The Journal of comparative neurology\| PubMed ID: 15452856	2004
Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron\| PubMed ID: 15473967	2004
The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nature cell biology\| PubMed ID: 15516996	2004
Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 15608062	2004
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. American journal of medical genetics. Part A\| PubMed ID: 15637732	2005
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nature genetics\| PubMed ID: 15793586	2005
Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice. Molecular and cellular biology\| PubMed ID: 15831469	2005
EMX2-independent familial schizencephaly: clinical and genetic analyses. American journal of medical genetics. Part A\| PubMed ID: 15887302	2005
Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. Science (New York, N.Y.)\| PubMed ID: 15894532	2005
Cytoplasmic LEK1 is a regulator of microtubule function through its interaction with the LIS1 pathway. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 15939891	2005
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Human molecular genetics\| PubMed ID: 15972725	2005
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. Brain research\| PubMed ID: 16054116	2005
Molecular insights into human brain evolution. Nature\| PubMed ID: 16136130	2005
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Annals of neurology\| PubMed ID: 16240336	2005
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. Clinical medicine & research\| PubMed ID: 16303888	2005
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth. Neuron\| PubMed ID: 16387638	2006
Neocortical neuronal arrangement in Miller Dieker syndrome. Acta neuropathologica\| PubMed ID: 16456669	2006
Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 16467525	2006
Cerebellar ataxia with progressive improvement. Archives of neurology\| PubMed ID: 16606775	2006
Impaired proliferation and migration in human Miller-Dieker neural precursors. Annals of neurology\| PubMed ID: 16642511	2006
Periventricular nodular heterotopia and Williams syndrome. American journal of medical genetics. Part A\| PubMed ID: 16691586	2006
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. American journal of medical genetics. Part A\| PubMed ID: 16761294	2006
Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex. Cerebral cortex (New York, N.Y. : 1991)\| PubMed ID: 16766703	2006
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Annals of neurology\| PubMed ID: 16786527	2006
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. American journal of medical genetics. Part A\| PubMed ID: 16835933	2006
Molecular approaches to brain asymmetry and handedness. Nature reviews. Neuroscience\| PubMed ID: 16858393	2006
The role of RELN in lissencephaly and neuropsychiatric disease. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 16958033	2007
Brain evolution and uniqueness in the human genome. Cell\| PubMed ID: 16990130	2006
Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 17172441	2006
Insights into the gyrification of developing ferret brain by magnetic resonance imaging. Journal of anatomy\| PubMed ID: 17229284	2007
Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 17409252	2007
Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science (New York, N.Y.)\| PubMed ID: 17446375	2007
Comprehensive EMX2 genotyping of a large schizencephaly case series. American journal of medical genetics. Part A\| PubMed ID: 17506092	2007
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS genetics\| PubMed ID: 17530927	2007
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Human molecular genetics\| PubMed ID: 17576745	2007
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. American journal of medical genetics. Part A\| PubMed ID: 17603806	2007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nature genetics\| PubMed ID: 17632512	2007
A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid. Journal of proteome research\| PubMed ID: 17696520	2007
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society\| PubMed ID: 17881266	2008
Doublecortin is expressed in articular chondrocytes. Biochemical and biophysical research communications\| PubMed ID: 17897623	2007
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clinical chemistry\| PubMed ID: 17901113	2007
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. American journal of medical genetics. Part A\| PubMed ID: 17975804	2007
Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone. Cerebral cortex (New York, N.Y. : 1991)\| PubMed ID: 18033766	2008
Association between microdeletion and microduplication at 16p11.2 and autism. The New England journal of medicine\| PubMed ID: 18184952	2008
Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Human molecular genetics\| PubMed ID: 18469343	2008
Genes that control the size of the cerebral cortex. Novartis Foundation symposium\| PubMed ID: 18494253	2007
GPR56 regulates pial basement membrane integrity and cortical lamination. The Journal of neuroscience : the official journal of the Society for Neuroscience\| PubMed ID: 18509043	2008
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. American journal of medical genetics. Part A\| PubMed ID: 18536050	2008
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. American journal of medical genetics. Part A\| PubMed ID: 18553518	2008
Identification of neural outgrowth genes using genome-wide RNAi. PLoS genetics\| PubMed ID: 18604272	2008
Identifying autism loci and genes by tracing recent shared ancestry. Science (New York, N.Y.)\| PubMed ID: 18621663	2008
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Human mutation\| PubMed ID: 18752264	2008
Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment. Schizophrenia research\| PubMed ID: 18805672	2008
Autism and brain development. Cell\| PubMed ID: 18984148	2008
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Human molecular genetics\| PubMed ID: 18996916	2009
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia\| PubMed ID: 19016831	2009
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. American journal of human genetics\| PubMed ID: 19026396	2008
Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control. Developmental biology\| PubMed ID: 19111533	2009
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain & development\| PubMed ID: 19751967	2010
Detecting natural selection by empirical comparison to random regions of the genome. Human molecular genetics\| PubMed ID: 19783549	2009
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. American journal of human genetics\| PubMed ID: 20004763	2009
Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation. Development (Cambridge, England)\| PubMed ID: 20040491	2010
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nature genetics\| PubMed ID: 20118933	2010
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics\| PubMed ID: 20231187	2010
Genetic malformations of the human frontal lobe. Epilepsia\| PubMed ID: 20331705	2010
The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nature neuroscience\| PubMed ID: 20364144	2010
The apical complex couples cell fate and cell survival to cerebral cortical development. Neuron\| PubMed ID: 20399730	2010
Developmental and degenerative features in a complicated spastic paraplegia. Annals of neurology\| PubMed ID: 20437587	2010
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development (Cambridge, England)\| PubMed ID: 20460369	2010
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics\| PubMed ID: 20468056	2010
Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex. Neuron\| PubMed ID: 20510857	2010
Mutation in PQBP1 is associated with periventricular heterotopia. American journal of medical genetics. Part A\| PubMed ID: 20886605	2010
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nature genetics\| PubMed ID: 20890278	2010
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. American journal of medical genetics. Part A\| PubMed ID: 20949537	2010
Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron\| PubMed ID: 20955932	2010
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. American journal of human genetics\| PubMed ID: 21035105	2010
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. American journal of human genetics\| PubMed ID: 21109224	2010
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype. Neural development\| PubMed ID: 21214893	2011
What disorders of cortical development tell us about the cortex: one plus one does not always make two. Current opinion in genetics & development\| PubMed ID: 21288712	2011
The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. Neuron\| PubMed ID: 21382550	2011
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. American journal of human genetics\| PubMed ID: 21529751	2011
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS genetics\| PubMed ID: 21625620	2011
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron\| PubMed ID: 21658581	2011
Neurogenesis at the brain-cerebrospinal fluid interface. Annual review of cell and developmental biology\| PubMed ID: 21801012	2011
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. American journal of medical genetics. Part A\| PubMed ID: 21964978	2011
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. BMC research notes\| PubMed ID: 22166137	2011
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. American journal of medical genetics. Part A\| PubMed ID: 22419660	2012
Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron\| PubMed ID: 22500628	2012
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic acids research\| PubMed ID: 22508754	2012
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS genetics\| PubMed ID: 22511880	2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia\| PubMed ID: 22690784	2012
Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins. Molecular cell\| PubMed ID: 22857951	2012
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. American journal of human genetics\| PubMed ID: 22958903	2012
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nature genetics\| PubMed ID: 23023333	2012
Common genetic variants, acting additively, are a major source of risk for autism. Molecular autism\| PubMed ID: 23067556	2012
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell\| PubMed ID: 23101622	2012
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell\| PubMed ID: 23178126	2012
Delineation of the Clinical, Molecular and Cellular Aspects of Novel JAM3 Mutations Underlying the Autosomal Recessive Hemorrhagic Destruction of the Brain, Subependymal Calcification, and C... Human mutation\| PubMed ID: 23255084	2013
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. Journal of child neurology\| PubMed ID: 23266945	2013
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism. Neuron\| PubMed ID: 23352163	2013
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of Î±-Dystroglycan. American journal of human genetics\| PubMed ID: 23453667	2013