Research Topics
Species | Christopher WalshSummaryAffiliation: Harvard University Country: USA Publications
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Publications
Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2Claudia Di Blasi
Division of Neuromuscular Diseases and Neuroimmunology, Fondazione IRCCS Istituto Neurologico C, Besta, Milan, Italy
BMC Res Notes 4:534. 2011..abstract:..- A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotypeNoelle 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... - Allelic diversity in human developmental neurogenetics: insights into biology and diseaseChristopher 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... - Autism and brain developmentChristopher 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... 
Regulation of cerebral cortical size by control of cell cycle exit in neural precursorsAnjen Chenn
Department of Pathology, Brigham and Women s Hospital, Boston, MA 02115, USA
Science 297:365-9. 2002....- G protein-coupled receptor-dependent development of human frontal cortexXianhua 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... - Smooth, rough and upside-down neocortical developmentEric 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... - Identifying autism loci and genes by tracing recent shared ancestryEric M Morrow
Division of Genetics, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
Science 321:218-23. 2008.... - Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndromeRussell 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... - Doublecortin is required in mice for lamination of the hippocampus but not the neocortexJoseph 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... - Lessons from natural moleculesJon 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... - Antibiotic glycosyltransferases: antibiotic maturation and prospects for reprogrammingChristopher 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 - Glycopeptide and lipoglycopeptide antibioticsDan Kahne
Department of Chemistry, Princeton University, Princeton, New Jersey 08544, USA
Chem Rev 105:425-48. 2005 - 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?.. - Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle EastM 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... - A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndromeAnthony 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... - The role of RELN in lissencephaly and neuropsychiatric diseaseBernard 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... - Deletion of chromosome 1p36 is associated with periventricular nodular heterotopiaJason 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 - Impaired proliferation and migration in human Miller-Dieker neural precursorsVolney 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... - Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromesXianhua 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... - Periventricular heterotopia: new insights into Ehlers-Danlos syndromeVolney 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... - Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowthThomas 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... - Neocortical neuronal arrangement in Miller Dieker syndromeVolney 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... - Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16Bernard 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... - Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndromeSophie 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... - Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformationsBernard 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... - Identification of neural outgrowth genes using genome-wide RNAiKatharine 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... - Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitorsSofia 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... - Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomySibel 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... - Mitotic spindle regulation by Nde1 controls cerebral cortical sizeYuanyi 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... - GPR56 regulates pial basement membrane integrity and cortical laminationShihong 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... 
Association between microdeletion and microduplication at 16p11.2 and autismLauren 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...- Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architectureTimothy 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... - Cerebellar ataxia with progressive improvementJack 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... - An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21Xianhua 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... - Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortexVolney 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... - Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortexMarta 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... - EMX2-independent familial schizencephaly: clinical and genetic analysesIan 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... - Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axonsSarah 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... - Markers of cellular proliferation are expressed in cortical tubersAllana 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... - Etiological heterogeneity of familial periventricular heterotopia and hydrocephalusVolney 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... - Genetic basis of developmental malformations of the cerebral cortexGaneshwaran 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... - Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interactVolney 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... - A genome-wide linkage and association scan reveals novel loci for autismLauren 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... - A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephalyGaneshwaran 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... - Developmental genetic malformations of the cerebral cortexVolney 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.... - Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disordersMichael 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... - The apical complex couples cell fate and cell survival to cerebral cortical developmentSeonhee 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... - Mutations in PNKP cause microcephaly, seizures and defects in DNA repairJun 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... - Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppressionEric 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.... - Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortexTao 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... - Early asymmetry of gene transcription in embryonic human left and right cerebral cortexTao 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.... - Insights into the gyrification of developing ferret brain by magnetic resonance imagingJason 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... - Developmental and degenerative features in a complicated spastic paraplegiaM 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... - Comprehensive EMX2 genotyping of a large schizencephaly case seriesIan 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... - Genes that control the size of the cerebral cortexTeresa 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... - Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathwayJaime 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... - Detecting natural selection by empirical comparison to random regions of the genomeFuli 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... - Molecular insights into human brain evolutionRobert 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.... - Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesisYuanyi 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... - The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fateTeresa 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... - Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairmentEric 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... - 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... - Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in miceJun 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... - Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalanceYiping 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... - The syndrome of perisylvian polymicrogyria with congenital arthrogryposisAnnapurna 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... - The many faces of filamin: a versatile molecular scaffold for cell motility and signallingYuanyi 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...
Research Grants
- Finding Autism Genes by Genomic Copy Number AnalysisChristopher A Walsh; Fiscal Year: 2010..abstract_text> ..
- Human Epilepsy Genetics - Neuronal Migration DisordersChristopher Walsh; Fiscal Year: 2009..Gene discovery can lead to better medical diagnosis, management and possible treatment of these often devastating conditions. ..
- Human Epilepsy Genetics - Neuronal Migration DisordersChristopher A Walsh; Fiscal Year: 2010..Gene discovery can lead to better medical diagnosis, management and possible treatment of these often devastating conditions. ..
- Human Epilepsy Genetics - Neuronal Migration DisordersChristopher Walsh; Fiscal Year: 2009..Gene discovery can lead to better medical diagnosis, management and possible treatment of these often devastating conditions. ..
- CELL IDENTITY DETERMINATION IN CEREBRAL CORTEXChristopher 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. ..
- CELL IDENTITY DETERMINATION IN CEREBRAL CORTEXChristopher 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. ..
- CELL IDENTITY DETERMINATION IN CEREBRAL CORTEXChristopher A Walsh; Fiscal Year: 2010....