Division of Genetics,
Department of Medicine,
Howard Hughes Medical Institute,
Division of Genetics, Department of Medicine
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An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.
American journal of human genetics Apr, 2002 | Pubmed ID: 11845408
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 May, 2002 | Pubmed ID: 12016511
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 May, 2002 | Pubmed ID: 12019320
Smooth, rough and upside-down neocortical development.
Current opinion in genetics & development Jun, 2002 | Pubmed ID: 12076676
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors.
Science (New York, N.Y.) Jul, 2002 | Pubmed ID: 12130776
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 Sep, 2002 | Pubmed ID: 12196578
ASPM is a major determinant of cerebral cortical size.
Nature genetics Oct, 2002 | Pubmed ID: 12355089
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
American journal of human genetics Nov, 2002 | Pubmed ID: 12369018
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.
Human molecular genetics Nov, 2002 | Pubmed ID: 12393796
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
Acta neuropathologica Dec, 2002 | Pubmed ID: 12410386
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 Feb, 2003 | Pubmed ID: 12548742
Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons.
Brain research. Developmental brain research Feb, 2003 | Pubmed ID: 12586436
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.
The Journal of comparative neurology May, 2003 | Pubmed ID: 12687690
The DCX-domain tandems of doublecortin and doublecortin-like kinase.
Nature structural biology May, 2003 | Pubmed ID: 12692530
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Annals of neurology May, 2003 | Pubmed ID: 12730993
Markers of cellular proliferation are expressed in cortical tubers.
Annals of neurology May, 2003 | Pubmed ID: 12731003
Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice.
Cerebral cortex (New York, N.Y. : 1991) Jun, 2003 | Pubmed ID: 12764034
Developmental genetic malformations of the cerebral cortex.
Current neurology and neuroscience reports Sep, 2003 | Pubmed ID: 12914687
Protein-truncating mutations in ASPM cause variable reduction in brain size.
American journal of human genetics Nov, 2003 | Pubmed ID: 14574646
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
Nature genetics Jan, 2004 | Pubmed ID: 14647276
Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations.
Epilepsy & behavior : E&B Dec, 2003 | Pubmed ID: 14698694
The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate.
Nature genetics Mar, 2004 | Pubmed ID: 14758363
Development.
Current opinion in neurobiology Feb, 2004 | Pubmed ID: 15018931
G protein-coupled receptor-dependent development of human frontal cortex.
Science (New York, N.Y.) Mar, 2004 | Pubmed ID: 15044805
Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion.
PLoS biology May, 2004 | Pubmed ID: 15045028
Genetic basis of developmental malformations of the cerebral cortex.
Archives of neurology May, 2004 | Pubmed ID: 15148137
Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
Brain & development Aug, 2004 | Pubmed ID: 15165674
Genetics of disorders of cortical development.
Neuroimaging clinics of North America May, 2004 | Pubmed ID: 15182816
A novel signaling mechanism in brain development.
Pediatric research Sep, 2004 | Pubmed ID: 15269343
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
Nature genetics Sep, 2004 | Pubmed ID: 15322546
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 Nov, 2004 | Pubmed ID: 15452856
Mitotic spindle regulation by Nde1 controls cerebral cortical size.
Neuron Oct, 2004 | Pubmed ID: 15473967
The many faces of filamin: a versatile molecular scaffold for cell motility and signalling.
Nature cell biology Nov, 2004 | Pubmed ID: 15516996
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 Dec, 2004 | Pubmed ID: 15608062
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
American journal of medical genetics. Part A Feb, 2005 | Pubmed ID: 15637732
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Nature genetics Apr, 2005 | Pubmed ID: 15793586
Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.
Molecular and cellular biology May, 2005 | Pubmed ID: 15831469
EMX2-independent familial schizencephaly: clinical and genetic analyses.
American journal of medical genetics. Part A Jun, 2005 | Pubmed ID: 15887302
Early asymmetry of gene transcription in embryonic human left and right cerebral cortex.
Science (New York, N.Y.) Jun, 2005 | Pubmed ID: 15894532
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 Jun, 2005 | Pubmed ID: 15939891
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
Human molecular genetics Aug, 2005 | Pubmed ID: 15972725
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 Aug, 2005 | Pubmed ID: 16054116
Molecular insights into human brain evolution.
Nature Sep, 2005 | Pubmed ID: 16136130
Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
Annals of neurology Nov, 2005 | Pubmed ID: 16240336
Periventricular heterotopia: new insights into Ehlers-Danlos syndrome.
Clinical medicine & research Nov, 2005 | Pubmed ID: 16303888
Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth.
Neuron Jan, 2006 | Pubmed ID: 16387638
Neocortical neuronal arrangement in Miller Dieker syndrome.
Acta neuropathologica May, 2006 | Pubmed ID: 16456669
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 Feb, 2006 | Pubmed ID: 16467525
Cerebellar ataxia with progressive improvement.
Archives of neurology Apr, 2006 | Pubmed ID: 16606775
Impaired proliferation and migration in human Miller-Dieker neural precursors.
Annals of neurology Jul, 2006 | Pubmed ID: 16642511
Periventricular nodular heterotopia and Williams syndrome.
American journal of medical genetics. Part A Jun, 2006 | Pubmed ID: 16691586
An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
American journal of medical genetics. Part A Jul, 2006 | Pubmed ID: 16761294
Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex.
Cerebral cortex (New York, N.Y. : 1991) Jul, 2006 | Pubmed ID: 16766703
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
Annals of neurology Aug, 2006 | Pubmed ID: 16786527
Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.
American journal of medical genetics. Part A Aug, 2006 | Pubmed ID: 16835933
Molecular approaches to brain asymmetry and handedness.
Nature reviews. Neuroscience Aug, 2006 | Pubmed ID: 16858393
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 Jan, 2007 | Pubmed ID: 16958033
Brain evolution and uniqueness in the human genome.
Cell Sep, 2006 | Pubmed ID: 16990130
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 Dec, 2006 | Pubmed ID: 17172441
Insights into the gyrification of developing ferret brain by magnetic resonance imaging.
Journal of anatomy Jan, 2007 | Pubmed ID: 17229284
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 Apr, 2007 | Pubmed ID: 17409252
Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens".
Science (New York, N.Y.) Apr, 2007 | Pubmed ID: 17446375
Comprehensive EMX2 genotyping of a large schizencephaly case series.
American journal of medical genetics. Part A Jun, 2007 | Pubmed ID: 17506092
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PLoS genetics May, 2007 | Pubmed ID: 17530927
Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.
Human molecular genetics Aug, 2007 | Pubmed ID: 17576745
A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
American journal of medical genetics. Part A Aug, 2007 | Pubmed ID: 17603806
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nature genetics Aug, 2007 | Pubmed ID: 17632512
A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid.
Journal of proteome research Sep, 2007 | Pubmed ID: 17696520
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 Mar, 2008 | Pubmed ID: 17881266
Doublecortin is expressed in articular chondrocytes.
Biochemical and biophysical research communications Nov, 2007 | Pubmed ID: 17897623
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
Clinical chemistry Dec, 2007 | Pubmed ID: 17901113
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.
American journal of medical genetics. Part A Dec, 2007 | Pubmed ID: 17975804
Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone.
Cerebral cortex (New York, N.Y. : 1991) Aug, 2008 | Pubmed ID: 18033766
Association between microdeletion and microduplication at 16p11.2 and autism.
The New England journal of medicine Feb, 2008 | Pubmed ID: 18184952
Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination.
Human molecular genetics Aug, 2008 | Pubmed ID: 18469343
Genes that control the size of the cerebral cortex.
Novartis Foundation symposium , 2007 | Pubmed ID: 18494253
GPR56 regulates pial basement membrane integrity and cortical lamination.
The Journal of neuroscience : the official journal of the Society for Neuroscience May, 2008 | Pubmed ID: 18509043
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 Jul, 2008 | Pubmed ID: 18536050
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 Jul, 2008 | Pubmed ID: 18553518
Identification of neural outgrowth genes using genome-wide RNAi.
PLoS genetics Jul, 2008 | Pubmed ID: 18604272
Identifying autism loci and genes by tracing recent shared ancestry.
Science (New York, N.Y.) Jul, 2008 | Pubmed ID: 18621663
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
Human mutation Nov, 2008 | Pubmed ID: 18752264
Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment.
Schizophrenia research Dec, 2008 | Pubmed ID: 18805672
Autism and brain development.
Cell Oct, 2008 | Pubmed ID: 18984148
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
Human molecular genetics Feb, 2009 | Pubmed ID: 18996916
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
Epilepsia Jun, 2009 | Pubmed ID: 19016831
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
American journal of human genetics Dec, 2008 | Pubmed ID: 19026396
Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control.
Developmental biology Mar, 2009 | Pubmed ID: 19111533
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Brain & development Aug, 2010 | Pubmed ID: 19751967
Detecting natural selection by empirical comparison to random regions of the genome.
Human molecular genetics Dec, 2009 | Pubmed ID: 19783549
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
American journal of human genetics Dec, 2009 | Pubmed ID: 20004763
Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation.
Development (Cambridge, England) Jan, 2010 | Pubmed ID: 20040491
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
Nature genetics Mar, 2010 | Pubmed ID: 20118933
Clinical genetic testing for patients with autism spectrum disorders.
Pediatrics Apr, 2010 | Pubmed ID: 20231187
Genetic malformations of the human frontal lobe.
Epilepsia Feb, 2010 | Pubmed ID: 20331705
The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
Nature neuroscience May, 2010 | Pubmed ID: 20364144
The apical complex couples cell fate and cell survival to cerebral cortical development.
Neuron Apr, 2010 | Pubmed ID: 20399730
Developmental and degenerative features in a complicated spastic paraplegia.
Annals of neurology Apr, 2010 | Pubmed ID: 20437587
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.
Development (Cambridge, England) Jun, 2010 | Pubmed ID: 20460369
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 Jun, 2010 | Pubmed ID: 20468056
Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex.
Neuron May, 2010 | Pubmed ID: 20510857
Mutation in PQBP1 is associated with periventricular heterotopia.
American journal of medical genetics. Part A Nov, 2010 | Pubmed ID: 20886605
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
Nature genetics Nov, 2010 | Pubmed ID: 20890278
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
American journal of medical genetics. Part A Nov, 2010 | Pubmed ID: 20949537
Allelic diversity in human developmental neurogenetics: insights into biology and disease.
Neuron Oct, 2010 | Pubmed ID: 20955932
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
American journal of human genetics Nov, 2010 | Pubmed ID: 21035105
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 Dec, 2010 | Pubmed ID: 21109224
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype.
Neural development , 2011 | Pubmed ID: 21214893
What disorders of cortical development tell us about the cortex: one plus one does not always make two.
Current opinion in genetics & development Jun, 2011 | Pubmed ID: 21288712
The cerebrospinal fluid provides a proliferative niche for neural progenitor cells.
Neuron Mar, 2011 | Pubmed ID: 21382550
Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected].
American journal of human genetics May, 2011 | Pubmed ID: 21529751
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
PLoS genetics May, 2011 | Pubmed ID: 21625620
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Neuron Jun, 2011 | Pubmed ID: 21658581
Neurogenesis at the brain-cerebrospinal fluid interface.
Annual review of cell and developmental biology , 2011 | Pubmed ID: 21801012
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.
American journal of medical genetics. Part A Nov, 2011 | Pubmed ID: 21964978
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.
BMC research notes , 2011 | Pubmed ID: 22166137
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 Apr, 2012 | Pubmed ID: 22419660
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
Neuron Apr, 2012 | Pubmed ID: 22500628
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
Nucleic acids research Aug, 2012 | Pubmed ID: 22508754
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
PLoS genetics , 2012 | Pubmed ID: 22511880
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Epilepsia Aug, 2012 | Pubmed ID: 22690784
Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins.
Molecular cell Sep, 2012 | Pubmed ID: 22857951
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
American journal of human genetics Sep, 2012 | Pubmed ID: 22958903
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Nature genetics Nov, 2012 | Pubmed ID: 23023333
Common genetic variants, acting additively, are a major source of risk for autism.
Molecular autism , 2012 | Pubmed ID: 23067556
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.
Cell Oct, 2012 | Pubmed ID: 23101622
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
Cell Nov, 2012 | Pubmed ID: 23178126
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.
Human mutation Mar, 2013 | Pubmed ID: 23255084
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
Journal of child neurology Feb, 2013 | Pubmed ID: 23266945
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism.
Neuron Jan, 2013 | Pubmed ID: 23352163
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan.
American journal of human genetics Feb, 2013 | Pubmed ID: 23453667
1Department of Physical Medicine and Rehabilitation, VA Greater Los Angeles Healthcare System,
2Department of Pharmacology and Physiology, Institute for Neuroscience, The George Washington University School of Medicine and Health Sciences,
3Division of Genetics, Department of Medicine, Boston Children's Hospital,
4Howard Hughes Medical Institute, Boston Children's Hospital,
5Department of Pathology, Boston Children's Hospital, Harvard Medical School
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