ABOUT THE RESEARCHER
OVERVIEW
Dr. Walsh’s research focuses on the development, evolution, and function of the human cerebral cortex, including analysis of human genetic diseases that disrupt the structure and function of the cortex. His laboratory has identified genetic causes for more than two-dozen brain diseases of children, associated with autism, intellectual disability, seizures, and cerebral palsy, and has discovered that some of these disease genes were targets of the evolutionary processes that shaped the human brain. Recent work has focused on somatic mutations in the brain, which are present in some brain cells, but not shared by all brain cells, because they occur after fertilization, during the mitotic divisions that generate the brain. The lab has developed methods for analyzing the entire genome of single cells, and has applied that to the systematic analysis of the extent to which the genome of one neuron differs from that of another neuron.
Laboratory Projects
- Genetics of brain malformations: We have active ongoing gene discovery projects to identify recessive mutations affecting human brain development, as well as somatic mutations in brain tissue resected to control epilepsy.
- Genetics of autism spectrum disorders: We are studying recessive mutations associated with autism spectrum disorders, especially noncoding mutations. We are also studying DNA directly isolated from postmortem autism brains to study somatic mutation in autism brain.
- Cell lineage in the human brain: Every time a cell divides, 10-100 somatic mutations occur, so that these somatic mutations represent a permanent record of the cell divisions that give rise to each human brain. We are using single cell, whole genome sequencing to develop a “rough draft” of the cell lineage of the human brain, and would like to examine changes in this development that occur in diseases with abnormal brain development.
- Single cell analysis of human brain development: We are interested to study degenerative diseases to determine which ones show increased rates of somatic mutation, which may help us understand the mechanism of neuronal degeneration. We are also profiling mRNA in single brain progenitor cells.
To read more about our work, click here to visit our lab website.
BACKGROUND
Christopher A. Walsh is Bullard Professor of Pediatrics and Neurology at Harvard Medical School, Chief of the Division of Genetics and Genomics at Boston Children's Hospital, and an Investigator of the Howard Hughes Medical Institute. Dr. Walsh completed MD and PhD degrees at the University of Chicago, neurology residency at Massachusetts General Hospital, and postdoctoral training at Harvard in Genetics. He has held the Bullard Professorship since 1999 and joined Children’s Hospital as Chief of Genetics in 2006. His lab’s work has been recognized by a Jacob Javits Award from the NINDS, the Dreifuss-Penry Award from the American Academy of Neurology, the Derek Denny-Brown and the Jacoby Awards from the American Neurological Association, the American Epilepsy Society’s Research Award, the Krieg Award from the Cajal Club, and the Wilder Penfield Award from the Middle Eastern Medical Assembly. He is an elected member of the American Neurological Association, the American Association of Physicians, the National Academy of Medicine (formerly the Institute of Medicine), and the American Association for the Advancement of Sciences.
Selected Publications
- Bae* BI, Tietjen* I, et al. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science 2014 Feb 14; 343(6172):764-8. PMID: 24531968
- Jamuar SS, et al. Somatic mutations in cerebral cortical malformations. New Engl. Jour. Med. Aug 21, 2014; 371(8):733-43. PMID: 25140959. Johnson* MB, Wang* PP, et al. Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. Nature Neurosci. 2015 May;18(5):637-46. doi: 10.1038/nn.3980. PMID: 25734491
- Lodato* M, Woodworth* M, Lee* S et al. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science 2015 Oct 2 350 (6256): 94-98. PMID: 2643012
PUBLICATIONS
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- RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 Feb 17. View abstract
- MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations. BMC Med Genomics. 2021 Feb 12; 14(1):47. View abstract
- A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 Feb 02. View abstract
- The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2021 Feb; 24(2):176-185. View abstract
- Large mosaic copy number variations confer autism risk. Nat Neurosci. 2021 Feb; 24(2):197-203. View abstract
- The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets. Sci Rep. 2020 12 09; 10(1):21516. View abstract
- Author Correction: Innovations present in the primate interneuron repertoire. Nature. 2020 Dec; 588(7837):E17. View abstract
- Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View abstract
- Innovations present in the primate interneuron repertoire. Nature. 2020 10; 586(7828):262-269. View abstract
- Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020 Sep; 23(9):1176. View abstract
- Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Sci Rep. 2020 08 20; 10(1):14045. View abstract
- APP gene copy number changes reflect exogenous contamination. Nature. 2020 Aug; 584(7821):E20-E28. View abstract
- Jettison-MS of Nucleic Acid Species. J Am Soc Mass Spectrom. 2020 Jul 09. View abstract
- Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain. Proc Natl Acad Sci U S A. 2020 06 23; 117(25):13886-13895. View abstract
- PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. Clin Genet. 2020 07; 98(1):80-85. View abstract
- Recent Advances in Understanding the Genetic Architecture of Autism. Annu Rev Genomics Hum Genet. 2020 08 31; 21:289-304. View abstract
- Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. Genet Med. 2020 Jun; 22(6):1040-1050. View abstract
- Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Neuron. 2020 04 22; 106(2):246-255.e6. View abstract
- Accurate detection of mosaic variants in sequencing data without matched controls. Nat Biotechnol. 2020 03; 38(3):314-319. View abstract
- In Memoriam: Frederick Andermann, MD. Ann Neurol. 2020 Jan; 87(1):1-3. View abstract
- Duplication 2p16 is associated with perisylvian polymicrogyria. . 2019 12; 179(12):2343-2356. View abstract
- Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. Am J Hum Genet. 2019 11 07; 105(5):1048-1056. View abstract
- Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms. Hum Mol Genet. 2019 10 15; 28(R2):R197-R206. View abstract
- Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 07; 51(7):1092-1098. View abstract
- SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL. J Cell Biol. 2019 07 01; 218(7):2185-2197. View abstract
- Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. Am J Hum Genet. 2019 06 06; 104(6):1073-1087. View abstract
- Linked-read analysis identifies mutations in single-cell DNA-sequencing data. Nat Genet. 2019 04; 51(4):749-754. View abstract
- PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. . 2018 12; 177(8):736-745. View abstract
- Somatic mosaicism and neurodevelopmental disease. Nat Neurosci. 2018 11; 21(11):1504-1514. View abstract
- Rainer W. Guillery and the genetic analysis of brain development. Eur J Neurosci. 2019 04; 49(7):900-908. View abstract
- Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2019 03; 21(3):545-552. View abstract
- Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development. Neuron. 2018 09 05; 99(5):905-913.e7. View abstract
- The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Rep. 2018 07 24; 24(4):973-986.e8. View abstract
- The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position. Neuron. 2018 07 11; 99(1):239-241. View abstract
- Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions. Annu Rev Neurosci. 2018 07 08; 41:185-206. View abstract
- The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet. 2018 08 31; 19:177-200. View abstract
- De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. View abstract
- Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size. Nature. 2018 04; 556(7701):370-375. View abstract
- PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation. Nucleic Acids Res. 2018 02 28; 46(4):e20. View abstract
- Cover Image, Volume 176A, Number 2, February 2018. Am J Med Genet A. 2018 Feb; 176(2):i. View abstract
- Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations. Am J Med Genet A. 2018 02; 176(2):337-350. View abstract
- Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias. Cell Rep. 2017 12 26; 21(13):3754-3766. View abstract
- Aging and neurodegeneration are associated with increased mutations in single human neurons. Science. 2018 02 02; 359(6375):555-559. View abstract
- Rare variant association test in family-based sequencing studies. Brief Bioinform. 2017 Nov 01; 18(6):954-961. View abstract
- Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. View abstract
- Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017 08; 27(8):1323-1335. View abstract
- Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 04 28; 356(6336). View abstract
- Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View abstract
- Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy. Eur J Med Genet. 2017 May; 60(5):245-249. View abstract
- Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits. Cereb Cortex. 2017 02 01; 27(2):1670-1685. View abstract
- Building a lineage from single cells: genetic techniques for cell lineage tracking. Nat Rev Genet. 2017 04; 18(4):230-244. View abstract
- A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory. Elife. 2016 12 21; 5. View abstract
- Cerebral cortical neuron diversity and development at single-cell resolution. Curr Opin Neurobiol. 2017 02; 42:9-16. View abstract
- Evolution of Osteocrin as an activity-regulated factor in the primate brain. Nature. 2016 11 10; 539(7628):242-247. View abstract
- Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 2016 Nov 23; 92(4):813-828. View abstract
- Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016 Oct 06; 167(2):341-354.e12. View abstract
- Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell. 2016 Aug 25; 166(5):1147-1162.e15. View abstract
- Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016 Feb 22; 5. View abstract
- Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. View abstract
- Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. . 2016 Feb; 170A(2):435-440. View abstract
- Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View abstract
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233. View abstract
- Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. 2015 Aug 22; 4. View abstract
- A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly. . 2015 Nov; 167A(11):2808-16. View abstract
- Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50. View abstract
- Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun; 62(3):571-85. View abstract
- Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. Nat Neurosci. 2015 May; 18(5):637-46. View abstract
- Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. Genes Dev. 2015 Mar 01; 29(5):501-12. View abstract
- Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View abstract
- Genetic changes shaping the human brain. Dev Cell. 2015 Feb 23; 32(4):423-34. View abstract
- Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2015 Feb 03; 10(4):645. View abstract
- Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015 Jan 07; 85(1):49-59. View abstract
- Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. View abstract
- Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15. View abstract
- A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol Psychiatry. 2015 May 01; 77(9):775-84. View abstract
- Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View abstract
- Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2014 Sep 11; 8(5):1280-9. View abstract
- CC2D1A regulates human intellectual and social function as well as NF-?B signaling homeostasis. Cell Rep. 2014 Aug 07; 8(3):647-55. View abstract
- POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 01; 23(21):5781-92. View abstract
- Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res. 2014 Jun; 7(3):355-62. View abstract
- Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 03; 94(4):547-58. View abstract
- Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science. 2014 Feb 14; 343(6172):764-8. View abstract
- METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. View abstract
- The diverse genetic landscape of neurodevelopmental disorders. Annu Rev Genomics Hum Genet. 2014; 15:195-213. View abstract
- SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec; 74(6):873-82. View abstract
- Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 2014 Apr; 45(2):93-101. View abstract
- Neuroscience. What are mini-brains? Science. 2013 Oct 11; 342(6155):200-1. View abstract
- Peter Huttenlocher (1931-2013). Nature. 2013 Oct 10; 502(7470):172. View abstract
- G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo. FEBS J. 2013 Dec; 280(23):6097-113. View abstract
- New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep; 74(3):382-90. View abstract
- Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 05; 341(6141):1237758. View abstract
- Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry. 2013 Oct 15; 74(8):576-84. View abstract
- Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants. J Vis Exp. 2013 Mar 11; (73):e50333. View abstract
- 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. Hum Mutat. 2013 Mar; 34(3):498-505. View abstract
- Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 07; 92(3):354-65. View abstract
- Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View abstract
- Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013 Feb; 28(2):198-203. View abstract
- Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell. 2012 Nov 21; 151(5):1097-112. View abstract
- Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell. 2012 Oct 26; 151(3):483-96. View abstract
- Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012 Oct 15; 3(1):9. View abstract
- Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol. 2013 Jul; 2(4):461-78. View abstract
- CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. View abstract
- Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 07; 91(3):541-7. View abstract
- Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins. Mol Cell. 2012 Sep 14; 47(5):707-21. View abstract
- Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012 Oct 01; 96(1):109-19. View abstract
- Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View abstract
- Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 2012 Aug; 40(14):6608-19. View abstract
- Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012; 8(4):e1002635. View abstract
- Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12; 74(1):41-8. View abstract
- Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. . 2012 Apr; 158A(4):888-93. View abstract
- Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2. BMC Res Notes. 2011 Dec 13; 4:534. View abstract
- Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene. Am J Med Genet A. 2011 Nov; 155A(11):2647-53. View abstract
- Neurogenesis at the brain-cerebrospinal fluid interface. Annu Rev Cell Dev Biol. 2011; 27:653-79. View abstract
- Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 Jun 09; 70(5):863-85. View abstract
- COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 2011 May; 7(5):e1002062. View abstract
- Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13; 88(5):536-47. View abstract
- The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. Neuron. 2011 Mar 10; 69(5):893-905. View abstract
- Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. Nature. 2011 Apr 14; 472(7342):221-5. View abstract
- What disorders of cortical development tell us about the cortex: one plus one does not always make two. Curr Opin Genet Dev. 2011 Jun; 21(3):333-9. View abstract
- A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype. Neural Dev. 2011 Jan 07; 6:3. View abstract
- A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Am J Hum Genet. 2010 Dec 10; 87(6):882-9. View abstract
- Mutation in PQBP1 is associated with periventricular heterotopia. . 2010 Nov; 152A(11):2888-90. View abstract
- Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. . 2010 Nov; 152A(11):2736-42. View abstract
- Prephenate decarboxylases: a new prephenate-utilizing enzyme family that performs nonaromatizing decarboxylation en route to diverse secondary metabolites. Biochemistry. 2010 Oct 26; 49(42):9021-3. View abstract
- Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 2010 Oct 21; 68(2):245-53. View abstract
- Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov; 42(11):1015-20. View abstract
- Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. . 2010 Jun 05; 153B(4):937-47. View abstract
- Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 2010 Jun; 137(11):1907-17. View abstract
- Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex. Neuron. 2010 May 27; 66(4):523-35. View abstract
- The apical complex couples cell fate and cell survival to cerebral cortical development. Neuron. 2010 Apr 15; 66(1):69-84. View abstract
- The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nat Neurosci. 2010 May; 13(5):551-8. View abstract
- Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol. 2010 Apr; 67(4):516-25. View abstract
- Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View abstract
- Genetic malformations of the human frontal lobe. Epilepsia. 2010 Feb; 51 Suppl 1:13-6. View abstract
- Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010 Mar; 42(3):245-9. View abstract
- Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation. Development. 2010 Jan; 137(2):249-59. View abstract
- A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. Am J Hum Genet. 2009 Dec; 85(6):897-902. View abstract
- Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. Neurology. 2009 Oct 20; 73(16):1264-72. View abstract
- Detecting natural selection by empirical comparison to random regions of the genome. Hum Mol Genet. 2009 Dec 15; 18(24):4853-67. View abstract
- The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5. View abstract
- Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control. Dev Biol. 2009 Mar 01; 327(1):132-42. View abstract
- Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. Am J Hum Genet. 2008 Dec; 83(6):684-91. View abstract
- Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet. 2009 Feb 01; 18(3):497-516. View abstract
- Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008 Nov; 29(11):E231-41. View abstract
- Autism and brain development. Cell. 2008 Oct 31; 135(3):396-400. View abstract
- Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia. 2009 Jun; 50(6):1344-53. View abstract
- Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment. Schizophr Res. 2008 Dec; 106(2-3):265-7. View abstract
- Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. . 2008 Jul 15; 146A(14):1842-7. View abstract
- Identifying autism loci and genes by tracing recent shared ancestry. Science. 2008 Jul 11; 321(5886):218-23. View abstract
- Identification of neural outgrowth genes using genome-wide RNAi. PLoS Genet. 2008 Jul 04; 4(7):e1000111. View abstract
- Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. . 2008 Jul 01; 146A(13):1637-54. View abstract
- Cux-1 and Cux-2 control the development of Reelin expressing cortical interneurons. Dev Neurobiol. 2008 Jun; 68(7):917-25. View abstract
- GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci. 2008 May 28; 28(22):5817-26. View abstract
- Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Hum Mol Genet. 2008 Aug 15; 17(16):2441-55. View abstract
- The evolution of gene collectives: How natural selection drives chemical innovation. Proc Natl Acad Sci U S A. 2008 Mar 25; 105(12):4601-8. View abstract
- Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View abstract
- A structural basis for reading fluency: white matter defects in a genetic brain malformation. Neurology. 2007 Dec 04; 69(23):2146-54. View abstract
- A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. . 2007 Dec 01; 143A(23):2761-7. View abstract
- Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone. Cereb Cortex. 2008 Aug; 18(8):1758-70. View abstract
- Cloning and characterization of the biosynthetic gene cluster for kutznerides. Proc Natl Acad Sci U S A. 2007 Oct 16; 104(42):16498-503. View abstract
- Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9. View abstract
- Doublecortin is expressed in articular chondrocytes. Biochem Biophys Res Commun. 2007 Nov 23; 363(3):694-700. View abstract
- Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene. Eur J Paediatr Neurol. 2008 Mar; 12(2):133-6. View abstract
- A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid. J Proteome Res. 2007 Sep; 6(9):3537-48. View abstract
- A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. . 2007 Aug 01; 143A(15):1692-8. View abstract
- Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007 Aug; 39(8):957-9. View abstract
- Directed evolution of aryl carrier proteins in the enterobactin synthetase. Proc Natl Acad Sci U S A. 2007 Jul 10; 104(28):11621-6. View abstract
- Numb, neurogenesis and epithelial polarity. Nat Neurosci. 2007 Jul; 10(7):812-3. View abstract
- Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Hum Mol Genet. 2007 Aug 15; 16(16):1972-85. View abstract
- Comprehensive EMX2 genotyping of a large schizencephaly case series. . 2007 Jun 15; 143A(12):1313-6. View abstract
- NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80. View abstract
- Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 2007 Jul 15; 16(14):1661-75. View abstract
- Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science. 2007 Apr 20; 316(5823):370. View abstract
- Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration. J Neurosci. 2007 Apr 04; 27(14):3875-83. View abstract
- The role of RELN in lissencephaly and neuropsychiatric disease. . 2007 Jan 05; 144B(1):58-63. View abstract
- Insights into the gyrification of developing ferret brain by magnetic resonance imaging. J Anat. 2007 Jan; 210(1):66-77. View abstract
- Genes that control the size of the cerebral cortex. Novartis Found Symp. 2007; 288:79-90; discussion 91-8. View abstract
- Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis. Proc Natl Acad Sci U S A. 2006 Dec 26; 103(52):19836-41. View abstract
- Brain evolution and uniqueness in the human genome. Cell. 2006 Sep 22; 126(6):1033-5. View abstract
- Periventricular heterotopia with complete agenesis of the corpus callosum : a case report. J Neurol. 2006 Oct; 253(10):1358-9. View abstract
- Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006 Aug; 60(2):214-22. View abstract
- Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. . 2006 Aug 01; 140(15):1692-5. View abstract
- Molecular approaches to brain asymmetry and handedness. Nat Rev Neurosci. 2006 Aug; 7(8):655-62. View abstract
- An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. . 2006 Jul 15; 140(14):1504-10. View abstract
- Impaired proliferation and migration in human Miller-Dieker neural precursors. Ann Neurol. 2006 Jul; 60(1):137-44. View abstract
- Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex. Cereb Cortex. 2006 Jul; 16 Suppl 1:i18-25. View abstract
- Periventricular nodular heterotopia and Williams syndrome. . 2006 Jun 15; 140(12):1305-11. View abstract
- Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. . 2006 May 15; 140(10):1041-6. View abstract
- Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul; 129(Pt 7):1892-906. View abstract
- Cerebellar ataxia with progressive improvement. Arch Neurol. 2006 Apr; 63(4):594-7. View abstract
- Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression. J Neurosci. 2006 Feb 08; 26(6):1767-75. View abstract
- Neocortical neuronal arrangement in Miller Dieker syndrome. Acta Neuropathol. 2006 May; 111(5):489-96. View abstract
- Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia. J Comp Neurol. 2006 Jan 20; 494(3):476-84. View abstract
- A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology. 2006 Jan 10; 66(1):133-5. View abstract
- Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth. Neuron. 2006 Jan 05; 49(1):41-53. View abstract
- Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. Epilepsia. 2006 Jan; 47(1):211-4. View abstract
- Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. Clin Med Res. 2005 Nov; 3(4):229-33. View abstract
- Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7. View abstract
- Molecular insights into human brain evolution. Nature. 2005 Sep 01; 437(7055):64-7. View abstract
- ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet. 2005 Sep; 42(9):725-9. View abstract
- 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 Res. 2005 Aug 23; 1054(1):9-21. View abstract
- The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. J Med Genet. 2006 Mar; 43(3):203-10. View abstract
- The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet. 2005 Aug 01; 14(15):2155-65. View abstract
- Cytoplasmic LEK1 is a regulator of microtubule function through its interaction with the LIS1 pathway. Proc Natl Acad Sci U S A. 2005 Jun 14; 102(24):8549-54. View abstract
- EMX2-independent familial schizencephaly: clinical and genetic analyses. . 2005 Jun 01; 135(2):166-70. View abstract
- POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec; 42(12):907-12. View abstract
- Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. Science. 2005 Jun 17; 308(5729):1794-8. View abstract
- Targeted disruption of Tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice. Mol Cell Biol. 2005 May; 25(9):3639-47. View abstract
- A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005 Apr; 37(4):353-5. View abstract
- Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology. 2005 Mar 08; 64(5):799-803. View abstract
- Robust in vitro activity of RebF and RebH, a two-component reductase/halogenase, generating 7-chlorotryptophan during rebeccamycin biosynthesis. Proc Natl Acad Sci U S A. 2005 Mar 15; 102(11):3960-5. View abstract
- Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. . 2005 Feb 15; 133A(1):53-7. View abstract
- Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62. View abstract
- Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1alpha/CXC chemokine receptor 4 pathway. Proc Natl Acad Sci U S A. 2004 Dec 28; 101(52):18117-22. View abstract
- Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex. J Comp Neurol. 2004 Nov 08; 479(2):168-80. View abstract
- The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol. 2004 Nov; 6(11):1034-8. View abstract
- Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron. 2004 Oct 14; 44(2):279-93. View abstract
- Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet. 2004 Sep; 36(9):1008-13. View abstract
- Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain Dev. 2004 Aug; 26(5):326-34. View abstract
- A novel signaling mechanism in brain development. Pediatr Res. 2004 Sep; 56(3):309-10. View abstract
- Sequential phases of cortical specification involve Neurogenin-dependent and -independent pathways. EMBO J. 2004 Jul 21; 23(14):2892-902. View abstract
- Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet. 2004 Jun; 41(6):e87. View abstract
- Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology. 2004 May 25; 62(10):1722-8. View abstract
- Genetic basis of developmental malformations of the cerebral cortex. Arch Neurol. 2004 May; 61(5):637-40. View abstract
- Genetics of disorders of cortical development. Neuroimaging Clin N Am. 2004 May; 14(2):219-29, viii. View abstract
- G protein-coupled receptor-dependent development of human frontal cortex. Science. 2004 Mar 26; 303(5666):2033-6. View abstract
- Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol. 2004 May; 2(5):E126. View abstract
- Development. Curr Opin Neurobiol. 2004 Feb; 14(1):1-5. View abstract
- The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet. 2004 Mar; 36(3):264-70. View abstract
- Infantile bilateral striatal necrosis maps to chromosome 19q. Neurology. 2004 Jan 13; 62(1):87-90. View abstract
- Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations. Epilepsy Behav. 2003 Dec; 4(6):618-25. View abstract
- Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 2004 Jan; 36(1):69-76. View abstract
- Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 2003 Nov; 73(5):1170-7. View abstract
- Developmental genetic malformations of the cerebral cortex. Curr Neurol Neurosci Rep. 2003 Sep; 3(5):433-41. View abstract
- Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice. Cereb Cortex. 2003 Jun; 13(6):599-606. View abstract
- A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 2003 May 27; 60(10):1664-7. View abstract
- Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. J Comp Neurol. 2003 May 26; 460(2):266-79. View abstract
- Markers of cellular proliferation are expressed in cortical tubers. Ann Neurol. 2003 May; 53(5):668-73. View abstract
- Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol. 2003 May; 53(5):596-606. View abstract
- The DCX-domain tandems of doublecortin and doublecortin-like kinase. Nat Struct Biol. 2003 May; 10(5):324-33. View abstract
- Autosomal recessive form of periventricular heterotopia. Neurology. 2003 Apr 08; 60(7):1108-12. View abstract
- Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6. View abstract
- Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons. Brain Res Dev Brain Res. 2003 Feb 16; 140(2):303-7. View abstract
- Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. . 2003 Feb 15; 117A(1):65-71. View abstract
- Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet. 2002 Nov 01; 11(23):2845-54. View abstract
- Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov; 71(5):1033-43. View abstract
- ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct; 32(2):316-20. View abstract
- Doublecortin is required in mice for lamination of the hippocampus but not the neocortex. J Neurosci. 2002 Sep 01; 22(17):7548-57. View abstract
- Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex. Acta Neuropathol. 2002 Dec; 104(6):649-57. View abstract
- Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science. 2002 Jul 19; 297(5580):365-9. View abstract
- Smooth, rough and upside-down neocortical development. Curr Opin Genet Dev. 2002 Jun; 12(3):320-7. View abstract
- Evidence of common progenitors and patterns of dispersion in rat striatum and cerebral cortex. J Neurosci. 2002 May 15; 22(10):4002-14. View abstract
- Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Mamm Genome. 2002 May; 13(5):239-44. View abstract
- An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet. 2002 Apr; 70(4):1028-33. View abstract
- Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway. Neuron. 2001 Nov 20; 32(4):591-604. View abstract
- Mechanisms of cerebral cortical patterning in mice and humans. Nat Neurosci. 2001 Nov; 4 Suppl:1199-206. View abstract
- Telencephalic neural progenitors appear to be restricted to regional and glial fates before the onset of neurogenesis. J Neurosci. 2001 Sep 01; 21(17):6772-81. View abstract
- Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. Hum Mol Genet. 2001 Aug 15; 10(17):1775-83. View abstract
- Neuroscience in the post-genome era: an overview. Trends Neurosci. 2001 Jul; 24(7):363-4. View abstract
- Protein-protein interactions, cytoskeletal regulation and neuronal migration. Nat Rev Neurosci. 2001 Jun; 2(6):408-16. View abstract
- Molecular genetics of human microcephaly. Curr Opin Neurol. 2001 Apr; 14(2):151-6. View abstract
- Callosal agenesis with cyst: a better understanding and new classification. Neurology. 2001 Jan 23; 56(2):220-7. View abstract
- Human brain malformations and their lessons for neuronal migration. Annu Rev Neurosci. 2001; 24:1041-70. View abstract
- DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization. J Neurosci. 2000 Dec 15; 20(24):9152-61. View abstract
- LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron. 2000 Dec; 28(3):665-79. View abstract
- Patient mutations in doublecortin define a repeated tubulin-binding domain. J Biol Chem. 2000 Nov 03; 275(44):34442-50. View abstract
- Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol. 2000 Nov; 30(11):748-55. View abstract
- Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep; 26(1):93-6. View abstract
- Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet. 2000 Aug 14; 93(4):294-8. View abstract
- Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends Neurosci. 2000 Aug; 23(8):352-9. View abstract
- Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000 Sep; 67(3):574-81. View abstract
- Proto-mapping the areas of cerebral cortex: transcription factors make the grade. Nat Neurosci. 2000 Jul; 3(7):640-1. View abstract
- Reelin binds alpha3beta1 integrin and inhibits neuronal migration. Neuron. 2000 Jul; 27(1):33-44. View abstract
- Potential mechanisms of mutations that affect neuronal migration in man and mouse. Curr Opin Genet Dev. 2000 Jun; 10(3):270-4. View abstract
- A mapping label required for normal scale of body representation in the cortex. Nat Neurosci. 2000 Apr; 3(4):358-65. View abstract
- Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9. View abstract
- Genetics of neuronal migration in the cerebral cortex. Ment Retard Dev Disabil Res Rev. 2000; 6(1):34-40. View abstract
- Cortical malformations and epilepsy. Ment Retard Dev Disabil Res Rev. 2000; 6(4):268-80. View abstract
- Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. J Neurol. 1999 Dec; 246(12):1177-80. View abstract
- Perspectives: neurobiology. Cranking it up a notch. Science. 1999 Oct 22; 286(5440):689-90. View abstract
- Coexistence of widespread clones and large radial clones in early embryonic ferret cortex. Cereb Cortex. 1999 Sep; 9(6):636-45. View abstract
- Genes that regulate neuronal migration in the cerebral cortex. Epilepsy Res. 1999 Sep; 36(2-3):143-54. View abstract
- Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Jul 22; 53(2):270-7. View abstract
- Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. Am J Hum Genet. 1999 Jul; 65(1):19-24. View abstract
- Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron. 1999 Jun; 23(2):257-71. View abstract
- Genetic malformations of the human cerebral cortex. Neuron. 1999 May; 23(1):19-29. View abstract
- Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53. View abstract
- Clonal mixing, clonal restriction, and specification of cell types in the developing rat olfactory bulb. J Comp Neurol. 1999 Jan 05; 403(1):106-18. View abstract
- Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25. View abstract
- LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37. View abstract
- A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3. Genomics. 1998 Sep 01; 52(2):214-8. View abstract
- PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet. 1998 Sep; 20(1):25-30. View abstract
- LISsen up! Nat Genet. 1998 Aug; 19(4):307-8. View abstract
- X-linked female band heterotopia-male lissencephaly syndrome. Neurology. 1998 Apr; 50(4):1143-6. View abstract
- Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 09; 92(1):63-72. View abstract
- Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype. J Neurosci. 1997 Dec 01; 17(23):9204-11. View abstract
- Effects of PTH on PTHrP gene expression in human osteoblasts: up-regulation with the kinetics of an immediate early gene. Biochem Biophys Res Commun. 1997 Oct 09; 239(1):155-9. View abstract
- Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse. Neuron. 1997 Aug; 19(2):239-49. View abstract
- Clonal dispersion and evidence for asymmetric cell division in ferret cortex. Development. 1997 Jun; 124(12):2441-50. View abstract
- Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain. Hum Mol Genet. 1997 Apr; 6(4):555-62. View abstract
- X-linked malformations of neuronal migration. Neurology. 1996 Aug; 47(2):331-9. View abstract
- Shaking down new epilepsy genes. Nat Med. 1996 May; 2(5):516-8. View abstract
- Neural development: identical twins separated at birth? Curr Biol. 1996 Jan 01; 6(1):26-8. View abstract
- Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron. 1996 Jan; 16(1):77-87. View abstract
- Early development of the cerebral cortex. Prog Brain Res. 1996; 108:17-30. View abstract
- Systematic widespread clonal organization in cerebral cortex. Neuron. 1995 Aug; 15(2):299-310. View abstract
- Expression and secretion of parathyroid hormone-related protein by human bone-derived cells in vitro: effects of glucocorticoids. J Bone Miner Res. 1995 Jan; 10(1):17-25. View abstract
- Cell lineage and patterns of migration in the developing cortex. Ciba Found Symp. 1995; 193:21-40; discussion 59-70. View abstract
- Lineage analysis using retrovirus vectors. Methods Enzymol. 1995; 254:387-419. View abstract
- Clonal dispersion in proliferative layers of developing cerebral cortex. Nature. 1993 Apr 15; 362(6421):632-5. View abstract
- Cell lineage and regional specification in the mammalian neocortex. Perspect Dev Neurobiol. 1993; 1(2):75-80. View abstract
- Lineage analysis using retrovirus vectors. Methods Enzymol. 1993; 225:933-60. View abstract
- Widespread dispersion of neuronal clones across functional regions of the cerebral cortex. Science. 1992 Jan 24; 255(5043):434-40. View abstract
- Multipotent neural cell lines can engraft and participate in development of mouse cerebellum. Cell. 1992 Jan 10; 68(1):33-51. View abstract
- Cell lineage and cell migration in the developing cerebral cortex. Experientia. 1990 Sep 15; 46(9):940-7. View abstract
- Studies of cortical development using retrovirus vectors. Cold Spring Harb Symp Quant Biol. 1990; 55:265-78. View abstract
- Clonally related cortical cells show several migration patterns. Science. 1988 Sep 09; 241(4871):1342-5. View abstract
- Early uncrossed component of the developing optic nerve with a short extracerebral course: a light and electron microscopic study of fetal ferrets. J Comp Neurol. 1987 Nov 08; 265(2):218-23. View abstract
- Changing glial organization relates to changing fiber order in the developing optic nerve of ferrets. J Comp Neurol. 1987 Nov 08; 265(2):203-17. View abstract
- Age-related fiber order in the ferret's optic nerve and optic chiasm. J Neurosci. 1986 Jun; 6(6):1635-42. View abstract
- Age-related fiber order in the optic tract of the ferret. J Neurosci. 1985 Nov; 5(11):3061-9. View abstract
- The topography of ganglion cell production in the cat's retina. J Neurosci. 1985 Mar; 5(3):741-50. View abstract
- A technique for flat embedding and en face sectioning of the mammalian retina for autoradiography. J Neurosci Methods. 1984 Nov; 12(1):57-64. View abstract
- Generation of cat retinal ganglion cells in relation to central pathways. Nature. 1983 Apr 14; 302(5909):611-4. View abstract