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

  1. 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.

  2. 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.

  3. 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.

  4. 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.


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

  1. 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
  2. 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
  3. 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 powered by Harvard Catalyst Profiles

  1. Brain ventricles as windows into brain development and disease. Neuron. 2022 Jan 05; 110(1):12-15. View abstract
  2. Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. Mob DNA. 2021 Nov 27; 12(1):28. View abstract
  3. Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. Genet Med. 2021 Nov 16. View abstract
  4. Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions. Neuron. 2021 10 20; 109(20):3239-3251.e7. View abstract
  5. Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability. Eur J Hum Genet. 2021 Nov; 29(11):1663-1668. View abstract
  6. Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain. Cancer Discov. 2021 Aug 13. View abstract
  7. Application of single cell genomics to focal epilepsies: A call to action. Brain Pathol. 2021 07; 31(4):e12958. View abstract
  8. Early role for a Na+,K+-ATPase (ATP1A3) in brain development. Proc Natl Acad Sci U S A. 2021 06 22; 118(25). View abstract
  9. 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Nat Commun. 2021 05 18; 12(1):2897. View abstract
  10. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Am J Med Genet A. 2021 08; 185(8):2384-2390. View abstract
  11. Brain Somatic Mutation in Aging and Alzheimer's Disease. Annu Rev Genomics Hum Genet. 2021 08 31; 22:239-256. View abstract
  12. Toward a better definition of focal cortical dysplasia: An iterative histopathological and genetic agreement trial. Epilepsia. 2021 06; 62(6):1416-1428. View abstract
  13. Author Correction: The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2021 Apr; 24(4):611. View abstract
  14. Comprehensive identification of somatic nucleotide variants in human brain tissue. Genome Biol. 2021 03 29; 22(1):92. View abstract
  15. Landmarks of human embryonic development inscribed in somatic mutations. Science. 2021 03 19; 371(6535):1249-1253. View abstract
  16. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes. Mol Psychiatry. 2021 05; 26(5):1706-1718. View abstract
  17. MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations. BMC Med Genomics. 2021 02 12; 14(1):47. View abstract
  18. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features. Genet Med. 2021 06; 23(6):1158-1162. View abstract
  19. The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing. Nat Neurosci. 2021 02; 24(2):176-185. View abstract
  20. Large mosaic copy number variations confer autism risk. Nat Neurosci. 2021 02; 24(2):197-203. View abstract
  21. Somatic copy number variants in neuropsychiatric disorders. Curr Opin Genet Dev. 2021 06; 68:9-17. View abstract
  22. 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
  23. Author Correction: Innovations present in the primate interneuron repertoire. Nature. 2020 Dec; 588(7837):E17. View abstract
  24. Polymicrogyria is Associated With Pathogenic Variants in PTEN. Ann Neurol. 2020 12; 88(6):1153-1164. View abstract
  25. Innovations present in the primate interneuron repertoire. Nature. 2020 10; 586(7828):262-269. View abstract
  26. Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2020 Sep; 23(9):1176. View abstract
  27. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Sci Rep. 2020 08 20; 10(1):14045. View abstract
  28. APP gene copy number changes reflect exogenous contamination. Nature. 2020 08; 584(7821):E20-E28. View abstract
  29. Jettison-MS of Nucleic Acid Species. J Am Soc Mass Spectrom. 2020 Jul 09. View abstract
  30. 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
  31. PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly. Clin Genet. 2020 07; 98(1):80-85. View abstract
  32. Recent Advances in Understanding the Genetic Architecture of Autism. Annu Rev Genomics Hum Genet. 2020 08 31; 21:289-304. View abstract
  33. 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 06; 22(6):1040-1050. View abstract
  34. 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
  35. Ion Channel Functions in Early Brain Development. Trends Neurosci. 2020 02; 43(2):103-114. View abstract
  36. Accurate detection of mosaic variants in sequencing data without matched controls. Nat Biotechnol. 2020 03; 38(3):314-319. View abstract
  37. In Memoriam: Frederick Andermann, MD. Ann Neurol. 2020 Jan; 87(1):1-3. View abstract
  38. Duplication 2p16 is associated with perisylvian polymicrogyria. . 2019 12; 179(12):2343-2356. View abstract
  39. 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
  40. 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
  41. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 07; 51(7):1092-1098. View abstract
  42. 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
  43. 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
  44. Linked-read analysis identifies mutations in single-cell DNA-sequencing data. Nat Genet. 2019 04; 51(4):749-754. View abstract
  45. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features. . 2018 12; 177(8):736-745. View abstract
  46. Somatic mosaicism and neurodevelopmental disease. Nat Neurosci. 2018 11; 21(11):1504-1514. View abstract
  47. Rainer W. Guillery and the genetic analysis of brain development. Eur J Neurosci. 2019 04; 49(7):900-908. View abstract
  48. Genomic and phenotypic delineation of congenital microcephaly. Genet Med. 2019 03; 21(3):545-552. View abstract
  49. 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
  50. 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
  51. The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position. Neuron. 2018 07 11; 99(1):239-241. View abstract
  52. Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions. Annu Rev Neurosci. 2018 07 08; 41:185-206. View abstract
  53. The Genetics of Primary Microcephaly. Annu Rev Genomics Hum Genet. 2018 08 31; 19:177-200. View abstract
  54. De novo and inherited private variants in MAP1B in periventricular nodular heterotopia. PLoS Genet. 2018 05; 14(5):e1007281. View abstract
  55. Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size. Nature. 2018 04; 556(7701):370-375. View abstract
  56. 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
  57. Cover Image, Volume 176A, Number 2, February 2018. Am J Med Genet A. 2018 Feb; 176(2):i. View abstract
  58. 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
  59. 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
  60. Aging and neurodegeneration are associated with increased mutations in single human neurons. Science. 2018 02 02; 359(6375):555-559. View abstract
  61. Rare variant association test in family-based sequencing studies. Brief Bioinform. 2017 Nov 01; 18(6):954-961. View abstract
  62. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224. View abstract
  63. 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
  64. Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network. Science. 2017 04 28; 356(6336). View abstract
  65. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View abstract
  66. 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
  67. 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
  68. Building a lineage from single cells: genetic techniques for cell lineage tracking. Nat Rev Genet. 2017 04; 18(4):230-244. View abstract
  69. A microRNA negative feedback loop downregulates vesicle transport and inhibits fear memory. Elife. 2016 12 21; 5. View abstract
  70. Cerebral cortical neuron diversity and development at single-cell resolution. Curr Opin Neurobiol. 2017 02; 42:9-16. View abstract
  71. Evolution of Osteocrin as an activity-regulated factor in the primate brain. Nature. 2016 11 10; 539(7628):242-247. View abstract
  72. 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
  73. Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior. Cell. 2016 Oct 06; 167(2):341-354.e12. View abstract
  74. Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex. Cell. 2016 Aug 25; 166(5):1147-1162.e15. View abstract
  75. Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016 Feb 22; 5. View abstract
  76. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 02; 88(5):910-917. View abstract
  77. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. . 2016 Feb; 170A(2):435-440. View abstract
  78. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 02; 350(6256):94-98. View abstract
  79. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233. View abstract
  80. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. 2015 Aug 22; 4. View abstract
  81. A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly. Am J Med Genet A. 2015 Nov; 167A(11):2808-16. View abstract
  82. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50. View abstract
  83. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun; 62(3):571-85. View abstract
  84. Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. Nat Neurosci. 2015 May; 18(5):637-46. View abstract
  85. 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
  86. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5. View abstract
  87. Genetic changes shaping the human brain. Dev Cell. 2015 Feb 23; 32(4):423-34. View abstract
  88. 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
  89. Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015 Jan 07; 85(1):49-59. View abstract
  90. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. View abstract
  91. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15. View abstract
  92. 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
  93. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View abstract
  94. 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
  95. 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
  96. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 01; 23(21):5781-92. View abstract
  97. 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
  98. 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
  99. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science. 2014 Feb 14; 343(6172):764-8. View abstract
  100. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. View abstract
  101. The diverse genetic landscape of neurodevelopmental disorders. Annu Rev Genomics Hum Genet. 2014; 15:195-213. View abstract
  102. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec; 74(6):873-82. View abstract
  103. Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 2014 Apr; 45(2):93-101. View abstract
  104. Neuroscience. What are mini-brains? Science. 2013 Oct 11; 342(6155):200-1. View abstract
  105. Peter Huttenlocher (1931-2013). Nature. 2013 Oct 10; 502(7470):172. View abstract
  106. 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
  107. New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep; 74(3):382-90. View abstract
  108. Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 05; 341(6141):1237758. View abstract
  109. 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
  110. Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants. J Vis Exp. 2013 Mar 11; (73):e50333. View abstract
  111. 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
  112. 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
  113. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View abstract
  114. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013 Feb; 28(2):198-203. View abstract
  115. 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
  116. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell. 2012 Oct 26; 151(3):483-96. View abstract
  117. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012 Oct 15; 3(1):9. View abstract
  118. Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol. 2013 Jul; 2(4):461-78. View abstract
  119. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4. View abstract
  120. 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
  121. 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
  122. Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012 Oct 01; 96(1):109-19. View abstract
  123. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View abstract
  124. 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
  125. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012; 8(4):e1002635. View abstract
  126. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12; 74(1):41-8. View abstract
  127. Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion. Am J Med Genet A. 2012 Apr; 158A(4):888-93. View abstract
  128. 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
  129. 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
  130. Neurogenesis at the brain-cerebrospinal fluid interface. Annu Rev Cell Dev Biol. 2011; 27:653-79. View abstract
  131. 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
  132. 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
  133. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13; 88(5):536-47. View abstract
  134. The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. Neuron. 2011 Mar 10; 69(5):893-905. View abstract
  135. Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome. Nature. 2011 Apr 14; 472(7342):221-5. View abstract
  136. 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
  137. 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
  138. 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
  139. Mutation in PQBP1 is associated with periventricular heterotopia. Am J Med Genet A. 2010 Nov; 152A(11):2888-90. View abstract
  140. Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. Am J Med Genet A. 2010 Nov; 152A(11):2736-42. View abstract
  141. 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
  142. Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 2010 Oct 21; 68(2):245-53. View abstract
  143. 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
  144. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. View abstract
  145. Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 2010 Jun; 137(11):1907-17. View abstract
  146. 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
  147. The apical complex couples cell fate and cell survival to cerebral cortical development. Neuron. 2010 Apr 15; 66(1):69-84. View abstract
  148. 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
  149. Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol. 2010 Apr; 67(4):516-25. View abstract
  150. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View abstract
  151. Genetic malformations of the human frontal lobe. Epilepsia. 2010 Feb; 51 Suppl 1:13-6. View abstract
  152. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010 Mar; 42(3):245-9. View abstract
  153. Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation. Development. 2010 Jan; 137(2):249-59. View abstract
  154. 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
  155. Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. Neurology. 2009 Oct 20; 73(16):1264-72. View abstract
  156. Detecting natural selection by empirical comparison to random regions of the genome. Hum Mol Genet. 2009 Dec 15; 18(24):4853-67. View abstract
  157. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5. View abstract
  158. 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
  159. 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
  160. 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
  161. 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
  162. Autism and brain development. Cell. 2008 Oct 31; 135(3):396-400. View abstract
  163. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia. 2009 Jun; 50(6):1344-53. View abstract
  164. 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
  165. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A. 2008 Jul 15; 146A(14):1842-7. View abstract
  166. Identifying autism loci and genes by tracing recent shared ancestry. Science. 2008 Jul 11; 321(5886):218-23. View abstract
  167. Identification of neural outgrowth genes using genome-wide RNAi. PLoS Genet. 2008 Jul 04; 4(7):e1000111. View abstract
  168. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 01; 146A(13):1637-54. View abstract
  169. Cux-1 and Cux-2 control the development of Reelin expressing cortical interneurons. Dev Neurobiol. 2008 Jun; 68(7):917-25. View abstract
  170. GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci. 2008 May 28; 28(22):5817-26. View abstract
  171. Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Hum Mol Genet. 2008 Aug 15; 17(16):2441-55. View abstract
  172. 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
  173. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View abstract
  174. A structural basis for reading fluency: white matter defects in a genetic brain malformation. Neurology. 2007 Dec 04; 69(23):2146-54. View abstract
  175. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. . 2007 Dec 01; 143A(23):2761-7. View abstract
  176. Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone. Cereb Cortex. 2008 Aug; 18(8):1758-70. View abstract
  177. 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
  178. 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
  179. Doublecortin is expressed in articular chondrocytes. Biochem Biophys Res Commun. 2007 Nov 23; 363(3):694-700. View abstract
  180. 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
  181. A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid. J Proteome Res. 2007 Sep; 6(9):3537-48. View abstract
  182. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. . 2007 Aug 01; 143A(15):1692-8. View abstract
  183. 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
  184. 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
  185. Numb, neurogenesis and epithelial polarity. Nat Neurosci. 2007 Jul; 10(7):812-3. View abstract
  186. Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Hum Mol Genet. 2007 Aug 15; 16(16):1972-85. View abstract
  187. Comprehensive EMX2 genotyping of a large schizencephaly case series. . 2007 Jun 15; 143A(12):1313-6. View abstract
  188. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80. View abstract
  189. Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 2007 Jul 15; 16(14):1661-75. View abstract
  190. Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science. 2007 Apr 20; 316(5823):370. View abstract
  191. Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration. J Neurosci. 2007 Apr 04; 27(14):3875-83. View abstract
  192. The role of RELN in lissencephaly and neuropsychiatric disease. . 2007 Jan 05; 144B(1):58-63. View abstract
  193. Insights into the gyrification of developing ferret brain by magnetic resonance imaging. J Anat. 2007 Jan; 210(1):66-77. View abstract
  194. Genes that control the size of the cerebral cortex. Novartis Found Symp. 2007; 288:79-90; discussion 91-8. View abstract
  195. 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
  196. Brain evolution and uniqueness in the human genome. Cell. 2006 Sep 22; 126(6):1033-5. View abstract
  197. Periventricular heterotopia with complete agenesis of the corpus callosum : a case report. J Neurol. 2006 Oct; 253(10):1358-9. View abstract
  198. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006 Aug; 60(2):214-22. View abstract
  199. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. . 2006 Aug 01; 140(15):1692-5. View abstract
  200. Molecular approaches to brain asymmetry and handedness. Nat Rev Neurosci. 2006 Aug; 7(8):655-62. View abstract
  201. An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. . 2006 Jul 15; 140(14):1504-10. View abstract
  202. Impaired proliferation and migration in human Miller-Dieker neural precursors. Ann Neurol. 2006 Jul; 60(1):137-44. View abstract
  203. 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
  204. Periventricular nodular heterotopia and Williams syndrome. Am J Med Genet A. 2006 Jun 15; 140(12):1305-11. View abstract
  205. 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
  206. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul; 129(Pt 7):1892-906. View abstract
  207. Cerebellar ataxia with progressive improvement. Arch Neurol. 2006 Apr; 63(4):594-7. View abstract
  208. Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression. J Neurosci. 2006 Feb 08; 26(6):1767-75. View abstract
  209. Neocortical neuronal arrangement in Miller Dieker syndrome. Acta Neuropathol. 2006 May; 111(5):489-96. View abstract
  210. 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
  211. A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology. 2006 Jan 10; 66(1):133-5. View abstract
  212. Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth. Neuron. 2006 Jan 05; 49(1):41-53. View abstract
  213. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. Epilepsia. 2006 Jan; 47(1):211-4. View abstract
  214. Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. Clin Med Res. 2005 Nov; 3(4):229-33. View abstract
  215. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7. View abstract
  216. Molecular insights into human brain evolution. Nature. 2005 Sep 01; 437(7055):64-7. View abstract
  217. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet. 2005 Sep; 42(9):725-9. View abstract
  218. 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
  219. 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
  220. 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
  221. 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
  222. EMX2-independent familial schizencephaly: clinical and genetic analyses. . 2005 Jun 01; 135(2):166-70. View abstract
  223. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec; 42(12):907-12. View abstract
  224. Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. Science. 2005 Jun 17; 308(5729):1794-8. View abstract
  225. 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
  226. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005 Apr; 37(4):353-5. View abstract
  227. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology. 2005 Mar 08; 64(5):799-803. View abstract
  228. 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
  229. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. . 2005 Feb 15; 133A(1):53-7. View abstract
  230. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62. View abstract
  231. 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
  232. 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
  233. 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
  234. Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron. 2004 Oct 14; 44(2):279-93. View abstract
  235. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet. 2004 Sep; 36(9):1008-13. View abstract
  236. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain Dev. 2004 Aug; 26(5):326-34. View abstract
  237. A novel signaling mechanism in brain development. Pediatr Res. 2004 Sep; 56(3):309-10. View abstract
  238. Sequential phases of cortical specification involve Neurogenin-dependent and -independent pathways. EMBO J. 2004 Jul 21; 23(14):2892-902. View abstract
  239. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet. 2004 Jun; 41(6):e87. View abstract
  240. Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology. 2004 May 25; 62(10):1722-8. View abstract
  241. Genetic basis of developmental malformations of the cerebral cortex. Arch Neurol. 2004 May; 61(5):637-40. View abstract
  242. Genetics of disorders of cortical development. Neuroimaging Clin N Am. 2004 May; 14(2):219-29, viii. View abstract
  243. G protein-coupled receptor-dependent development of human frontal cortex. Science. 2004 Mar 26; 303(5666):2033-6. View abstract
  244. Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol. 2004 May; 2(5):E126. View abstract
  245. Development. Curr Opin Neurobiol. 2004 Feb; 14(1):1-5. View abstract
  246. 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
  247. Infantile bilateral striatal necrosis maps to chromosome 19q. Neurology. 2004 Jan 13; 62(1):87-90. View abstract
  248. 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
  249. 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
  250. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 2003 Nov; 73(5):1170-7. View abstract
  251. Developmental genetic malformations of the cerebral cortex. Curr Neurol Neurosci Rep. 2003 Sep; 3(5):433-41. View abstract
  252. Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice. Cereb Cortex. 2003 Jun; 13(6):599-606. View abstract
  253. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 2003 May 27; 60(10):1664-7. View abstract
  254. 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
  255. Markers of cellular proliferation are expressed in cortical tubers. Ann Neurol. 2003 May; 53(5):668-73. View abstract
  256. 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
  257. The DCX-domain tandems of doublecortin and doublecortin-like kinase. Nat Struct Biol. 2003 May; 10(5):324-33. View abstract
  258. Autosomal recessive form of periventricular heterotopia. Neurology. 2003 Apr 08; 60(7):1108-12. View abstract
  259. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6. View abstract
  260. 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
  261. 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
  262. 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
  263. 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
  264. ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct; 32(2):316-20. View abstract
  265. 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
  266. 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
  267. Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science. 2002 Jul 19; 297(5580):365-9. View abstract
  268. Smooth, rough and upside-down neocortical development. Curr Opin Genet Dev. 2002 Jun; 12(3):320-7. View abstract
  269. 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
  270. 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
  271. 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
  272. Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway. Neuron. 2001 Nov 20; 32(4):591-604. View abstract
  273. Mechanisms of cerebral cortical patterning in mice and humans. Nat Neurosci. 2001 Nov; 4 Suppl:1199-206. View abstract
  274. 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
  275. 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
  276. Neuroscience in the post-genome era: an overview. Trends Neurosci. 2001 Jul; 24(7):363-4. View abstract
  277. Protein-protein interactions, cytoskeletal regulation and neuronal migration. Nat Rev Neurosci. 2001 Jun; 2(6):408-16. View abstract
  278. Molecular genetics of human microcephaly. Curr Opin Neurol. 2001 Apr; 14(2):151-6. View abstract
  279. Callosal agenesis with cyst: a better understanding and new classification. Neurology. 2001 Jan 23; 56(2):220-7. View abstract
  280. Human brain malformations and their lessons for neuronal migration. Annu Rev Neurosci. 2001; 24:1041-70. View abstract
  281. DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization. J Neurosci. 2000 Dec 15; 20(24):9152-61. View abstract
  282. LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron. 2000 Dec; 28(3):665-79. View abstract
  283. Patient mutations in doublecortin define a repeated tubulin-binding domain. J Biol Chem. 2000 Nov 03; 275(44):34442-50. View abstract
  284. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol. 2000 Nov; 30(11):748-55. View abstract
  285. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep; 26(1):93-6. View abstract
  286. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet. 2000 Aug 14; 93(4):294-8. View abstract
  287. Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends Neurosci. 2000 Aug; 23(8):352-9. View abstract
  288. 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
  289. Proto-mapping the areas of cerebral cortex: transcription factors make the grade. Nat Neurosci. 2000 Jul; 3(7):640-1. View abstract
  290. Reelin binds alpha3beta1 integrin and inhibits neuronal migration. Neuron. 2000 Jul; 27(1):33-44. View abstract
  291. Potential mechanisms of mutations that affect neuronal migration in man and mouse. Curr Opin Genet Dev. 2000 Jun; 10(3):270-4. View abstract
  292. A mapping label required for normal scale of body representation in the cortex. Nat Neurosci. 2000 Apr; 3(4):358-65. View abstract
  293. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9. View abstract
  294. Genetics of neuronal migration in the cerebral cortex. Ment Retard Dev Disabil Res Rev. 2000; 6(1):34-40. View abstract
  295. Cortical malformations and epilepsy. Ment Retard Dev Disabil Res Rev. 2000; 6(4):268-80. View abstract
  296. Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. J Neurol. 1999 Dec; 246(12):1177-80. View abstract
  297. Perspectives: neurobiology. Cranking it up a notch. Science. 1999 Oct 22; 286(5440):689-90. View abstract
  298. Coexistence of widespread clones and large radial clones in early embryonic ferret cortex. Cereb Cortex. 1999 Sep; 9(6):636-45. View abstract
  299. Genes that regulate neuronal migration in the cerebral cortex. Epilepsy Res. 1999 Sep; 36(2-3):143-54. View abstract
  300. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Jul 22; 53(2):270-7. View abstract
  301. Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. Am J Hum Genet. 1999 Jul; 65(1):19-24. View abstract
  302. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron. 1999 Jun; 23(2):257-71. View abstract
  303. Genetic malformations of the human cerebral cortex. Neuron. 1999 May; 23(1):19-29. View abstract
  304. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53. View abstract
  305. 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
  306. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25. View abstract
  307. 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
  308. 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
  309. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet. 1998 Sep; 20(1):25-30. View abstract
  310. LISsen up! Nat Genet. 1998 Aug; 19(4):307-8. View abstract
  311. X-linked female band heterotopia-male lissencephaly syndrome. Neurology. 1998 Apr; 50(4):1143-6. View abstract
  312. 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
  313. 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
  314. 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
  315. Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse. Neuron. 1997 Aug; 19(2):239-49. View abstract
  316. Clonal dispersion and evidence for asymmetric cell division in ferret cortex. Development. 1997 Jun; 124(12):2441-50. View abstract
  317. 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
  318. X-linked malformations of neuronal migration. Neurology. 1996 Aug; 47(2):331-9. View abstract
  319. Shaking down new epilepsy genes. Nat Med. 1996 May; 2(5):516-8. View abstract
  320. Neural development: identical twins separated at birth? Curr Biol. 1996 Jan 01; 6(1):26-8. View abstract
  321. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron. 1996 Jan; 16(1):77-87. View abstract
  322. Early development of the cerebral cortex. Prog Brain Res. 1996; 108:17-30. View abstract
  323. Systematic widespread clonal organization in cerebral cortex. Neuron. 1995 Aug; 15(2):299-310. View abstract
  324. 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
  325. Cell lineage and patterns of migration in the developing cortex. Ciba Found Symp. 1995; 193:21-40; discussion 59-70. View abstract
  326. Lineage analysis using retrovirus vectors. Methods Enzymol. 1995; 254:387-419. View abstract
  327. Clonal dispersion in proliferative layers of developing cerebral cortex. Nature. 1993 Apr 15; 362(6421):632-5. View abstract
  328. Cell lineage and regional specification in the mammalian neocortex. Perspect Dev Neurobiol. 1993; 1(2):75-80. View abstract
  329. Lineage analysis using retrovirus vectors. Methods Enzymol. 1993; 225:933-60. View abstract
  330. Widespread dispersion of neuronal clones across functional regions of the cerebral cortex. Science. 1992 Jan 24; 255(5043):434-40. View abstract
  331. Multipotent neural cell lines can engraft and participate in development of mouse cerebellum. Cell. 1992 Jan 10; 68(1):33-51. View abstract
  332. Cell lineage and cell migration in the developing cerebral cortex. Experientia. 1990 Sep 15; 46(9):940-7. View abstract
  333. Studies of cortical development using retrovirus vectors. Cold Spring Harb Symp Quant Biol. 1990; 55:265-78. View abstract
  334. Clonally related cortical cells show several migration patterns. Science. 1988 Sep 09; 241(4871):1342-5. View abstract
  335. 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
  336. 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
  337. Age-related fiber order in the ferret's optic nerve and optic chiasm. J Neurosci. 1986 Jun; 6(6):1635-42. View abstract
  338. Age-related fiber order in the optic tract of the ferret. J Neurosci. 1985 Nov; 5(11):3061-9. View abstract
  339. The topography of ganglion cell production in the cat's retina. J Neurosci. 1985 Mar; 5(3):741-50. View abstract
  340. 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
  341. Generation of cat retinal ganglion cells in relation to central pathways. Nature. 1983 Apr 14; 302(5909):611-4. View abstract