Christopher Walsh

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins
    Judy S Liu
    Center for Neuroscience Research, Children s National Medical Center, Washington, DC 20010, USA
    Mol Cell 47:707-21. 2012
  2. pmc Common genetic variants, acting additively, are a major source of risk for autism
    Lambertus Klei
    Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Mol Autism 3:9. 2012
  3. pmc Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2
    Claudia Di Blasi
    Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C, Besta, Milan, Italy
    BMC Res Notes 4:534. 2011
  4. pmc A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype
    Noelle D Dwyer
    Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA
    Neural Dev 6:3. 2011
  5. pmc Autism and brain development
    Christopher A Walsh
    Division of Genetics, Children s Hospital Boston, Department of Neurology and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA
    Cell 135:396-400. 2008
  6. pmc Allelic diversity in human developmental neurogenetics: insights into biology and disease
    Christopher A Walsh
    Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children s Hospital, Boston, MA 02115, USA
    Neuron 68:245-53. 2010
  7. ncbi request reprint Regulation of cerebral cortical size by control of cell cycle exit in neural precursors
    Anjen Chenn
    Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Science 297:365-9. 2002
  8. ncbi request reprint G protein-coupled receptor-dependent development of human frontal cortex
    Xianhua Piao
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA
    Science 303:2033-6. 2004
  9. ncbi request reprint Smooth, rough and upside-down neocortical development
    Eric C Olson
    Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA
    Curr Opin Genet Dev 12:320-7. 2002
  10. pmc Identifying autism loci and genes by tracing recent shared ancestry
    Eric M Morrow
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Science 321:218-23. 2008

Research Grants

  1. Finding Autism Genes by Genomic Copy Number Analysis
    Christopher A Walsh; Fiscal Year: 2010
  2. Human Epilepsy Genetics - Neuronal Migration Disorders
    Christopher Walsh; Fiscal Year: 2009
  3. Human Epilepsy Genetics - Neuronal Migration Disorders
    Christopher A Walsh; Fiscal Year: 2010
  4. Human Epilepsy Genetics - Neuronal Migration Disorders
    Christopher Walsh; Fiscal Year: 2009
  5. CELL IDENTITY DETERMINATION IN CEREBRAL CORTEX
    Christopher Walsh; Fiscal Year: 2007
  6. CELL IDENTITY DETERMINATION IN CEREBRAL CORTEX
    Christopher Walsh; Fiscal Year: 2001
  7. CELL IDENTITY DETERMINATION IN CEREBRAL CORTEX
    Christopher A Walsh; Fiscal Year: 2010

Collaborators

Detail Information

Publications69

  1. pmc Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins
    Judy S Liu
    Center for Neuroscience Research, Children s National Medical Center, Washington, DC 20010, USA
    Mol Cell 47:707-21. 2012
    ..Alteration of kinesin run length by MAPs represents a previously undiscovered mode of control of kinesin transport and provides a mechanism for regulation of MT-based transport by local signals...
  2. pmc Common genetic variants, acting additively, are a major source of risk for autism
    Lambertus Klei
    Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
    Mol Autism 3:9. 2012
    ..abstract:..
  3. pmc Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2
    Claudia Di Blasi
    Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C, Besta, Milan, Italy
    BMC Res Notes 4:534. 2011
    ..abstract:..
  4. pmc A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype
    Noelle D Dwyer
    Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA, USA
    Neural Dev 6:3. 2011
    ..The axons grow along a complex multistep pathway, making sharp turns, crossing expression boundaries, and encountering intermediate targets. However, the cellular and molecular components mediating these steps remain poorly understood...
  5. pmc Autism and brain development
    Christopher A Walsh
    Division of Genetics, Children s Hospital Boston, Department of Neurology and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA
    Cell 135:396-400. 2008
    ..Gene replacement studies in mice indicate that the developmental window to ameliorate symptoms may be wider than previously anticipated...
  6. pmc Allelic diversity in human developmental neurogenetics: insights into biology and disease
    Christopher A Walsh
    Division of Genetics, Department of Neurology, Howard Hughes Medical Institute, Children s Hospital, Boston, MA 02115, USA
    Neuron 68:245-53. 2010
    ..These diverse alleles not only provide a platform for discovery of critical protein-protein interactions in a genetic fashion, but also illuminate the likely genetic architecture of as yet poorly characterized neurological disorders...
  7. ncbi request reprint Regulation of cerebral cortical size by control of cell cycle exit in neural precursors
    Anjen Chenn
    Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
    Science 297:365-9. 2002
    ....
  8. ncbi request reprint G protein-coupled receptor-dependent development of human frontal cortex
    Xianhua Piao
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA
    Science 303:2033-6. 2004
    ..BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Our data suggest that GPCR signaling plays an essential role in regional development of human cerebral cortex...
  9. ncbi request reprint Smooth, rough and upside-down neocortical development
    Eric C Olson
    Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA
    Curr Opin Genet Dev 12:320-7. 2002
    ..Reelin, which is mutated in a third type of lissencephaly, may represent a unifying link because it encodes an extracellular protein that regulates neuronal migration and may also regulate the microtubule cytoskeleton...
  10. pmc Identifying autism loci and genes by tracing recent shared ancestry
    Eric M Morrow
    Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Science 321:218-23. 2008
    ....
  11. ncbi request reprint Doublecortin is required in mice for lamination of the hippocampus but not the neocortex
    Joseph C Corbo
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 22:7548-57. 2002
    ..Behavioral tests show defects in context and cued conditioned fear tests, suggesting that deficits in hippocampal learning accompany the abnormal cytoarchitecture...
  12. ncbi request reprint Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
    Russell J Ferland
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, NRB 266, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Nat Genet 36:1008-13. 2004
    ..Comparative genetic analysis of AHI1 indicates that it has undergone positive evolutionary selection along the human lineage. Therefore, changes in AHI1 may have been important in the evolution of human-specific motor behaviors...
  13. ncbi request reprint Glycopeptide and lipoglycopeptide antibiotics
    Dan Kahne
    Department of Chemistry, Princeton University, Princeton, New Jersey 08544, USA
    Chem Rev 105:425-48. 2005
  14. ncbi request reprint Lessons from natural molecules
    Jon Clardy
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nature 432:829-37. 2004
    ..Coupled with improvements in approaches for natural-product isolation, characterization and synthesis, these could be opening the door to a new era in the investigation of natural products in academia and industry...
  15. ncbi request reprint Antibiotic glycosyltransferases: antibiotic maturation and prospects for reprogramming
    Christopher Walsh
    Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, 240 Longwood Avenue, Boston, MA 02115, USA
    J Med Chem 46:3425-36. 2003
  16. ncbi request reprint Where will new antibiotics come from?
    Christopher Walsh
    Biological Chemistry and Molecular Pharmacology Department, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Rev Microbiol 1:65-70. 2003
    ..Pathogens that are resistant to multiple drugs emerge around the globe, so how robust are antibiotic discovery processes?..
  17. doi request reprint Association between microdeletion and microduplication at 16p11.2 and autism
    Lauren A Weiss
    Autism Consortium, Boston, USA
    N Engl J Med 358:667-75. 2008
    ..Autism spectrum disorder is a heritable developmental disorder in which chromosomal abnormalities are thought to play a role...
  18. ncbi request reprint A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome
    Anthony D Hill
    Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 143:1692-8. 2007
    ..0-Mb microcephaly critical region including the 1q43-1q44 boundary and no more than 11 genes...
  19. ncbi request reprint The role of RELN in lissencephaly and neuropsychiatric disease
    Bernard S Chang
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet B Neuropsychiatr Genet 144:58-63. 2007
    ..Although RELN appears to be critical for normal cerebral and cerebellar development, its role, if any, in the pathogenesis of psychiatric disorders remains unclear...
  20. ncbi request reprint Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes
    Xianhua Piao
    Division of Newborn Medicine, Department of Medicine, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Ann Neurol 58:680-7. 2005
    ..No GPR56 mutation was found in these patients. This study provides a molecular confirmation of the BFPP phenotype and provides the wherewithal for diagnostic screening...
  21. pmc Periventricular heterotopia: new insights into Ehlers-Danlos syndrome
    Volney L Sheen
    Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA
    Clin Med Res 3:229-33. 2005
    ..While much still remains unknown regarding the mechanistic role of FLNA in giving rise to PH and EDS, a common cellular and molecular basis likely gives rise to these two seemingly unrelated clinical disorders...
  22. ncbi request reprint Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth
    Thomas A S Deuel
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Neuron 49:41-53. 2006
    ..Dcx and Dclk may directly or indirectly regulate microtubule-based vesicle transport, a process critical to both neuronal migration and axon outgrowth...
  23. ncbi request reprint Neocortical neuronal arrangement in Miller Dieker syndrome
    Volney L Sheen
    Department of Neurology, Beth Israel Deaconess Medical Center, Boston, MA 02115, USA
    Acta Neuropathol 111:489-96. 2006
    ..Moreover, characterization of such rare human malformations of cortical development by immunohistochemical techniques will provide a greater understanding of the underlying mechanisms...
  24. ncbi request reprint Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia
    Jason Neal
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 140:1692-5. 2006
  25. pmc GPR56 regulates pial basement membrane integrity and cortical lamination
    Shihong Li
    Division of Newborn Medicine, Department of Medicine, Children s Hospital Boston, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 28:5817-26. 2008
    ..Furthermore, a putative ligand of GPR56 is localized in the marginal zone or overlying extracellular matrix. These observations provide compelling evidence that GPR56 functions in regulating pial BM integrity during cortical development...
  26. ncbi request reprint Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16
    Bernard S Chang
    Division of Neurogenetics, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA
    Ann Neurol 53:596-606. 2003
    ..Because 11 of our patients initially were classified as having other malformations, the syndrome of BFPP appears to be more common than previously recognized and may be frequently misdiagnosed...
  27. pmc Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East
    M Chiara Manzini
    Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Hum Mutat 29:E231-41. 2008
    ..Notably, the FCMD gene was a more common cause of WWS than previously expected in the European/American subset of our cohort, including all Ashkenazi Jewish cases, who carried the same founder mutation...
  28. ncbi request reprint Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations
    Bernard S Chang
    Comprehensive Epilepsy Center, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
    Epilepsy Behav 4:618-25. 2003
    ..In this review we highlight some of the prominent findings in this emerging field by presenting the functional neuroimaging characteristics of selected MCDs...
  29. pmc Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors
    Sofia B Lizarraga
    Division of Genetics and the Manton Center for Orphan Disease Research, Children s Hospital Boston, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
    Development 137:1907-17. 2010
    ..Our findings suggest that the reduction in brain size observed in humans with mutations in CDK5RAP2 is associated with impaired centrosomal function and with changes in mitotic spindle orientation during progenitor proliferation...
  30. ncbi request reprint Mitotic spindle regulation by Nde1 controls cerebral cortical size
    Yuanyi Feng
    Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
    Neuron 44:279-93. 2004
    ..In vitro analysis demonstrated that Nde1 is essential for centrosome duplication and mitotic spindle assembly. Our data show that mitotic spindle function and orientation are essential for normal development of mammalian cerebral cortex...
  31. pmc Identification of neural outgrowth genes using genome-wide RNAi
    Katharine J Sepp
    Department of Genetics, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS Genet 4:e1000111. 2008
    ..Collectively, our results showed that RNAi phenotypes in primary neural culture can parallel in vivo phenotypes, and the screening technique can be used to identify many new genes that have important functions in the nervous system...
  32. pmc Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
    Sibel Kantarci
    Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, Massachusetts, USA
    Am J Med Genet A 146:1842-7. 2008
    ..This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders...
  33. ncbi request reprint Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome
    Sophie C Currier
    Howard Hughes Medical Institute and Department of Neurology Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Am J Med Genet A 133:53-7. 2005
    ..We conclude that while the incidence of POMT1 mutations in WWS can be as high as 20% as reported by Beltran-Valero de Bernabe et al. [2002] and it can be as low as approximately 7%, as reported here...
  34. ncbi request reprint Impaired proliferation and migration in human Miller-Dieker neural precursors
    Volney L Sheen
    Department of Neurology, Division of Neurogenetics and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
    Ann Neurol 60:137-44. 2006
    ..Thus, the objective of this article was to establish human neural precursor cell lines from postmortem MDS tissue and to characterize the pathological cellular processes that contribute to the human lissencephalic phenotype...
  35. pmc Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture
    Timothy W Yu
    Division of Genetics, Department of Medicine, Children s Hospital Boston, Boston, Massachusetts, USA
    Nat Genet 42:1015-20. 2010
    ..The diverse phenotypes of WDR62 suggest it has central roles in many aspects of cerebral cortical development...
  36. ncbi request reprint Cerebellar ataxia with progressive improvement
    Jack W Tsao
    Department of Neurology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Room A1036, Bethesda, MD 20814, USA
    Arch Neurol 63:594-7. 2006
    ..Cerebellar hypoplasia on imaging is variable but is not predictive of the degree of ataxia or cognitive impairment...
  37. ncbi request reprint EMX2-independent familial schizencephaly: clinical and genetic analyses
    Ian Tietjen
    Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 135:166-70. 2005
    ..These results indicate that genetic forms of schizencephaly are likely to be heterogeneous...
  38. ncbi request reprint Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex
    Marta Nieto
    Department of Neurology, Harvard Medical School and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02115, USA
    J Comp Neurol 479:168-80. 2004
    ..The patterns of expression of Cux genes suggest potential roles as determinants of the neuronal fate of the upper cortical layer neurons...
  39. ncbi request reprint Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex
    Volney L Sheen
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 36:69-76. 2004
    ..Our findings show that vesicle trafficking is an important regulator of proliferation and migration during human cerebral cortical development...
  40. pmc An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21
    Xianhua Piao
    Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 70:1028-33. 2002
    ..98, and the maximal multipoint LOD score was 4.57. This study provides the first genetic evidence that BFPP is an autosomal recessive disorder and serves as a starting point for the identification of the responsible gene...
  41. ncbi request reprint Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons
    Sarah M Teillon
    Department of Neurology, Beth Israel Deaconess Medical Center, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA
    Brain Res Dev Brain Res 140:303-7. 2003
    ..The vomeronasal nerves are indistinguishable in normal and reeler mutant mice, strongly suggesting that Reelin does not provide a guidance cue for vomeronasal axons...
  42. ncbi request reprint Developmental genetic malformations of the cerebral cortex
    Volney L Sheen
    Department of Neurology, Beth Israel Deaconess Medical Center, HIM 816, 4 Blackfan Circle, Boston, MA 02115, USA
    Curr Neurol Neurosci Rep 3:433-41. 2003
    ....
  43. ncbi request reprint Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus
    Volney L Sheen
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, HIM 816, 4 Blackfan Circle, Boston, MA 02115, USA
    Brain Dev 26:326-34. 2004
    ..Affected individuals have severe developmental delay and may have radiographic findings of hydrocephalus...
  44. ncbi request reprint Genetic basis of developmental malformations of the cerebral cortex
    Ganeshwaran H Mochida
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, Mass, USA
    Arch Neurol 61:637-40. 2004
    ..The identification and functional studies of the genes associated with these developmental disorders will likely lead to improvement in diagnosis and facilitate our understanding of the mechanisms of cortical development...
  45. pmc A genome-wide linkage and association scan reveals novel loci for autism
    Lauren A Weiss
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nature 461:802-8. 2009
    ..The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants...
  46. pmc A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly
    Ganeshwaran H Mochida
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 85:897-902. 2009
    ..This suggests essential roles of TRAPPC9 in human brain development, possibly through its effect on NF-kappaB activation and protein trafficking in the postmitotic neurons of the cerebral cortex...
  47. ncbi request reprint Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact
    Volney L Sheen
    Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, Massachusetts 02115, USA
    Hum Mol Genet 11:2845-54. 2002
    ..These results suggest that FLNA and FLNB may form both homodimers and heterodimers and that their interaction could potentially compensate for the loss of FLNA function during cortical development within PH individuals...
  48. pmc Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
    Jun Shen
    1 Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center and Program in Neuroscience, Harvard Medical School, Boston, Massachusetts, USA 2 These authors contributed equally to the work
    Nat Genet 42:245-9. 2010
    ..Unlike other DNA repair defects that affect humans, PNKP mutations universally cause severe seizures. The neurological abnormalities in individuals with MCSZ may reflect a role for PNKP in several DNA repair pathways...
  49. ncbi request reprint Markers of cellular proliferation are expressed in cortical tubers
    Allana Lee
    Department of Neurology, University of Pennsylvania Medical Center, Philadelphia, PA 19104, USA
    Ann Neurol 53:668-73. 2003
    ..Tubers and SEGAs exhibit a heterogeneous profile of differentiation and may share a common cellular lineage. Tubers may contain a subpopulation of newly generated cells...
  50. pmc Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders
    Michael S L Ching
    Division of Developmental Medicine, Children s Hospital Boston, Boston, Massachusetts 02115, USA
    Am J Med Genet B Neuropsychiatr Genet 153:937-47. 2010
    ..Our study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders...
  51. pmc The apical complex couples cell fate and cell survival to cerebral cortical development
    Seonhee Kim
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Neuron 66:69-84. 2010
    ..These data highlight unexpected roles of the apical complex protein Pals1 in cell survival through interactions with mTOR signaling...
  52. ncbi request reprint Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression
    Eric C Olson
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Department of Neurology, Program in Neuroscience, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Neurosci 26:1767-75. 2006
    ....
  53. pmc Developmental and degenerative features in a complicated spastic paraplegia
    M Chiara Manzini
    Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
    Ann Neurol 67:516-25. 2010
    ..In addition, we analyzed SPG20 expression throughout development to infer how disruption of this gene might generate the constellation of developmental and degenerative Troyer syndrome phenotypes...
  54. pmc Early asymmetry of gene transcription in embryonic human left and right cerebral cortex
    Tao Sun
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, New Research Building Room 0266, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
    Science 308:1794-8. 2005
    ....
  55. pmc Insights into the gyrification of developing ferret brain by magnetic resonance imaging
    Jason Neal
    Division of Neurogenetics, Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA
    J Anat 210:66-77. 2007
    ..Cortical folding is also largely complete prior to myelination of the underlying cortical axons. These observations are consistent with gyrification arising secondary to cortical processes involving neuronal differentiation...
  56. ncbi request reprint Genes that control the size of the cerebral cortex
    Teresa H Chae
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, MA, USA
    Novartis Found Symp 288:79-90; discussion 91-8. 2007
    ..Also, some of the genes that are mutated in human microcephaly seem to have been targets in the evolution of humans from distant primate ancestors...
  57. ncbi request reprint Comprehensive EMX2 genotyping of a large schizencephaly case series
    Ian Tietjen
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 143:1313-6. 2007
    ..No pathologic mutations were identified in this cohort, suggesting that EMX2 mutations are an uncommon cause of schizencephaly...
  58. ncbi request reprint Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex
    Tao Sun
    Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA 02115, USA
    Cereb Cortex 16:i18-25. 2006
    ..Our results identify candidate genes involved in the evolution of human cerebral cortical asymmetry...
  59. pmc Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway
    Jaime Imitola
    Center for Neurologic Diseases, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 101:18117-22. 2004
    ..CXCR4 expression within germinal zones suggests that NSC homing after injury and migration during development may invoke similar mechanisms...
  60. ncbi request reprint Molecular insights into human brain evolution
    Robert Sean Hill
    Division of Neurogenetics and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Room 266, New Research Building, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA
    Nature 437:64-7. 2005
    ....
  61. ncbi request reprint Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens"
    Fuli Yu
    Department of Genetics, Harvard Medical School, New Research Building, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
    Science 316:370. 2007
    ..However, when we compare ASPM empirically to a large number of other loci, its variation is not unusual and does not support selection...
  62. pmc Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis
    Yuanyi Feng
    Division of Genetics and Department of Cardiology, Children s Hospital Boston, Boston, MA 02215, USA
    Proc Natl Acad Sci U S A 103:19836-41. 2006
    ..Essential roles for FLNA in intercellular junctions provide a mechanism for the diverse developmental defects seen in patients with FLNA mutations...
  63. ncbi request reprint The many faces of filamin: a versatile molecular scaffold for cell motility and signalling
    Yuanyi Feng
    Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, New Research Building Rm 266, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
    Nat Cell Biol 6:1034-8. 2004
    ..More recently, genetic mutations in filamin A and B have been reported to cause a wide range of human diseases, suggesting that different diseases highlight distinct filamin interactions...
  64. ncbi request reprint Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance
    Yiping Shen
    Department of Laboratory Medicine, Children s Hospital Boston, Boston, MA 02115, USA
    Clin Chem 53:2051-9. 2007
    ..We report the design and validation of a focused oligonucleotide-array CGH assay for clinical laboratory diagnosis of genomic imbalance...
  65. pmc Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice
    Jun Shen
    Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, NRB 266, 77 Avenue Louis Pasteur, Boston, MA 02115, USA
    Mol Cell Biol 25:3639-47. 2005
    ..In addition, there were no discernible derangements in any of the major organ systems, including the forebrain. Overall our results point to a possible functional redundancy of Tgif, potentially provided by the closely related Tgif2...
  66. pmc Detecting natural selection by empirical comparison to random regions of the genome
    Fuli Yu
    Department of Genetics, Harvard Medical School, Boston, MA, USA
    Hum Mol Genet 18:4853-67. 2009
    ..Our study also provides a prototype for how empirical scans for ancient selection can be carried out once many genomes are sequenced...
  67. pmc The syndrome of perisylvian polymicrogyria with congenital arthrogryposis
    Annapurna Poduri
    Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, MA 02215, USA
    Brain Dev 32:550-5. 2010
    ..We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone...
  68. ncbi request reprint The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate
    Teresa H Chae
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center and Department of Neurology and Program in Neuroscience, Harvard Medical School, HIM 816, 4 Blackfan Circle, Boston, Massachusetts 02115, USA
    Nat Genet 36:264-70. 2004
    ..Apical localization of the SNARE Vamp7 is also disrupted. Thus, alpha Snap is essential for apical protein localization and cell fate determination in neuroepithelial cells...
  69. pmc Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment
    Eric M Morrow
    Division of Neurogenetics and Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, USA
    Schizophr Res 106:265-7. 2008
    ..6%). Thereby, while PAK3 remains a strong biological candidate in psychosis, evidence from human genetics provides strongest support for a link to pfropfschizophrenie and not to schizophrenia without premorbid intellectual disability...

Research Grants19

  1. Finding Autism Genes by Genomic Copy Number Analysis
    Christopher A Walsh; Fiscal Year: 2010
    ..abstract_text> ..
  2. Human Epilepsy Genetics - Neuronal Migration Disorders
    Christopher Walsh; Fiscal Year: 2009
    ..Gene discovery can lead to better medical diagnosis, management and possible treatment of these often devastating conditions. ..
  3. Human Epilepsy Genetics - Neuronal Migration Disorders
    Christopher A Walsh; Fiscal Year: 2010
    ..Gene discovery can lead to better medical diagnosis, management and possible treatment of these often devastating conditions. ..
  4. Human Epilepsy Genetics - Neuronal Migration Disorders
    Christopher Walsh; Fiscal Year: 2009
    ..Gene discovery can lead to better medical diagnosis, management and possible treatment of these often devastating conditions. ..
  5. CELL IDENTITY DETERMINATION IN CEREBRAL CORTEX
    Christopher Walsh; Fiscal Year: 2007
    ..Finally, the third specific aim analyzes the role of the centrosome in neurogenesis, and the biochemical and functional connection between polarized protein expression and mitotic spindle orientation in the cortical neuroepithelium. ..
  6. CELL IDENTITY DETERMINATION IN CEREBRAL CORTEX
    Christopher Walsh; Fiscal Year: 2001
    ..The methods developed for these studies may have more general utility for studying the roles of many key genes involved in cortical development. ..
  7. CELL IDENTITY DETERMINATION IN CEREBRAL CORTEX
    Christopher A Walsh; Fiscal Year: 2010
    ....