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  Publications

Building a lineage from single cells: genetic techniques for cell lineage tracking
  • Woodworth, MB, Girskis, KM, Walsh CA
  • Nature Reviews Genetics. 2017 Jan 23; [Epub ahead of print]: 1-15.
  • [Article PDF] 
Cerebral cortical neurons diversity and development at single-cell resolution
  • Johnson MB, Walsh CA
  • Curr Opin Neurobiol. 2016 Nov 23;42:9-16
  • [Article PDF] 
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.
  • Jayaraman D, Kodani A, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA.
  • Neuron. 2016 Nov 23; 92(4):813-828.
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior
  • Doan RN, Bae BI, Cubelos B, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG, Nieto M, Walsh CA
  • Cell. 2016 Oct 6; 167: 341-354.
  • [Article PDF] 
Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex
  • Zhang X, Chen MH, Wu X, Kodani A, Fan J, Doan R, Ozawa M, Ma J, Yoshida N, Reiter JF, Black DL, Kharchenko PV, Sharp PA, Walsh CA.
  • Cell. 2016 Aug 25; 166: 1147-1162.
  • [Article PDF] 
Disorders of Microtubule Function in Neurons: Imaging Correlates
  • Mutch CA, Poduri A, Sahin M, Walsh CA and Barkovich AJ.
  • Am J Neuroradiol. 2016 March 1;37:328-35.
  • [Article PDF] 
Resolving rates of mutation in the brain using single-neuron genomics
  • Evrony GD, Lee E, Park PJ, Walsh CA.
  • eLife. 2016 Feb 22;5:1-32.
  • [Article PDF] 
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits
  • Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC.
  • Cerebral Cortex. 2016 Jan 29. [Epub ahead of print]
  • [Article PDF] 
Targeted DNA Sequencing of Autism Spectrum Disorder Brains Implicates Mulitple Genetic Mechanisms
  • D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AT, Sestan N, Walsh CA.
  • Neuron. 2015 Dec 2;88(5):910-7.
  • [Article PDF] 
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
  • Imitola J, Khurana DS, Teplyuk NM, Zucker M, Jethva R, Legido A, Krichevsky AM, Frangieh M, Walsh CA, Carvalho KS.
  • Am J Med Genet A. 2015 Nov;167(11):2808-16.
  • [Article PDF] 
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
  • Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM.
  • Am J Med Genet A. 2016 Feb;170(2):435-40.
  • [Article PDF] 
Somatic mutation in single human neurons tracks developmental and transcriptional history
  • Lodato MA, Woodworth MB, Lee S, Evrony GD, Mehta BK, Karger A, Lee S, Chittenden TW, D'Gama AM, Cai X, Luquette LJ, Lee E, Park PJ, Walsh CA
  • Science. 2015 Oct 2;350(6256):94-8.
  • [Article PDF] 
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
  • Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW; Autism Sequencing Consortium, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW
  • Neuron. 2015 Sep 23;87(6):1215-33.
  • [Article PDF] 
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication
  • Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L, Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan NJ, Walsh CA, Reiter JF
  • Elife. 2015 Aug 22;4.
  • [Article PDF] 
Genomic variants and variations in malformations of cortical development.
  • SS Jamuar, CA Walsh
  • Pediatr Clin North Am. 2015 Jun;62(3):571-85.
  • [Article PDF] 
Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex
  • Johnson MB, Wang PP, Atabay KD, Murphy EA, Doan RN, Hecht JL, Walsh CA
  • Nat Neurosci. 2015 May;18(5):637-46.
  • [Article PDF] 
Loss of PCLO function underlies pontocerebellar hypoplasia type III
  • Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
  • Neurology. 2015 Apr 28;84(17):1745-50.
  • [Article PDF] 
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia
  • D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A
  • Ann Neurol. 2015 Apr;77(4):720-5.
  • [Article PDF] 
Genetic changes shaping the human brain
  • Bae BI, Jayaraman D, Walsh CA
  • Dev Cell. 2015 Feb 23;32(4):423-34.
  • [Article PDF] 
Cell lineage analysis in human brain using endogenous retroelements
  • Evrony GD, Lee E, Mehta BK, Benjamini Y, Johnson RM, Cai X, Yang L, Haseley P, Lehmann HS, Park PJ, Walsh CA
  • Neuron. 2015 Jan 7;85(1):49-59.
  • [Article PDF] 
Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number
  • Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA
  • Neuron. 2014 Dec 17;84(6):1240-57.
  • [Article PDF] 
The diverse genetic landscape of neurodevelopmental disorders
  • Hu WF, Chahrour MH, Walsh CA
  • Annu Rev Genomics Hum Genet. 2014 Aug 31;15:195-213.
  • [Article PDF] 
Somatic mutations in cerebral cortical malformations
  • Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA
  • N Engl J Med. 2014 Aug 21;371(8):733-43.
  • [Article PDF] 
Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain
  • Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA
  • Cell Rep. 2014 Sep 11;8(5):1280-9.
  • [Article PDF] 
CC2D1A Regulates Human Intellectual and Social Function as well as NF-kB Signaling Homeostasis
  • M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira E. Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra Laurent, Zohair A. Nanjiani, Saima Rasheed, R. Sean Hill, Sofia B. Lizarraga, Danielle Gleason, Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, and Christopher A. Walsh.
  • Cell Reports 8, 647-655, August 7, 2014.
  • [Article PDF] 
Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures
  • Xiaochang Zhang, Jiqiang Ling, Giulia Barcia, Lili Jing, Jiang Wu, Brenda J. Barry, Ganeshwaran H. Mochida, R. Sean Hill, Jill M. Weimer, Quinn Stein, Annapurna Poduri, Jennifer N. Partlow, Dorothee Ville, Olivier Dulac, Tim W. Yu, Anh-Thu N. Lam, Sarah Servattalab, Jacqueline Rodriguez, Nathalie Boddaert, Arnold Munnich, Laurence Colleaux, Leonard I. Zon, Dieter Soll, Christopher A. Walsh, and Rima Nabbout.
  • Am J Hum Genet. 2014 Apr 3; 94, 547-558.
  • [Article PDF] 
METTL23, a transcriptional partner of GABPA, is essential for human cognition
  • Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GH
  • Hum Mol Genet. 2014 Jul 1;23(13):3456-66.
  • [Article PDF] 
Evolutionarily Dynamic Alternative Splicing of GPR56 Regulates Regional Cerebral Cortical Patterning
  • Byoung-Il Bae, Ian Tietjen, Kutay D. Atabay, Gilad D. Evrony, Matthew B. Johnson, Ebenezer Asare, Peter P. Wang, Ayako Y. Murayama, Kiho Im, Steven N. Lisgo, Lynne Overman, Nenad Sestan, Bernard S. Chang, A. James Barkovich, P. Ellen Grant, Meral Topcu, Jeffrey Politsky, Hideyuki Okano, Xianhua Piao, Christopher A. Walsh
  • Science. 2014 Feb 14; 343(6172):764-8. doi: 10.1126/science.1244392.
  • [Article PDF] 
Inherited Mutations SLC25A22, Annals of Neuroly Reply
  • Poduri A, Salih MA, Walsh CA
  • Ann Neurol. 2014 Feb;75(2):326. doi: 10.1002/ana.24055. Epub 2014 Jan 2.
  • [Article PDF] 
SLC25A22 Is a Novel Gene for Migrating Partial Seizures in Infancy
  • Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Francesco Massimo Lasorsa, P. Christina Elhosary, Christopher M. LaCoursiere, Emilie Martin, Christopher J. Yuskaitis, Robert Sean Hill, Kutay Deniz Atabay, Brenda Barry, Jennifer N. Partlow, Fahad A. Bashiri, Radwan M. Zeidan, Salah A. Elmalik, Mohammad M. U. Kabiraj, Sanjeev Kothare, Tommy Stodberg, Amy McTague, Manju A. Kurian, Ingrid E. Scheffer, A. James Barkovich, Ferdinando Palmieri, Mustafa A. Salih, and Christopher A. Walsh.
  • Ann Neurol. 2013 Dec;74(6):873-82.
  • [Article PDF] 
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
  • Hills LB, Masri A, Konno K, Kakegawa W, Lam AT, Lim-Melia E, Chandy N, Hill RS, Partlow JN, Al-Saffar M, Nasir R, Stoler JM, Barkovich AJ, Watanabe M, Yuzaki M, Mochida GH.
  • Neurology. 2013 Oct 15;81(16):1378-86. doi: 10.1212/WNL.0b013e3182a841a3.
  • [Article PDF] 
What are mini-brains?
  • Bae BI, Walsh CA.
  • Science. 2013 Oct 11;342(6155):200-1. doi: 10.1126/science.1245812
  • [Article PDF] 
New innovations: therapeutic opportunities for intellectual disabilities.
  • Picker JD, Walsh CA.
  • Ann Neurol. 2013 Sep;74(3):382-90. doi: 10.1002/ana.24002.
  • [Article PDF] 
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.
  • Wu MP, Doyle JR, Barry B, Beauvais A, Rozkalne A, Piao X, Lawlor MW, Kopin AS, Walsh CA, Gussoni E.
  • FEBS J. 2013 Dec;280(23):6097-113. doi: 10.1111/febs.12529.
  • [Article PDF] 
Somatic mutation, genomic variation, and neurological disease.
  • Poduri A, Evrony GD, Cai X, Walsh CA.
  • Science. 2013 Jul 5;341(6141):1237758. doi: 10.1126/science.1237758.
  • [Article PDF] 
Genetic causes of microcephaly and lessons for neuronal development.
  • Gilmore EC, Walsh CA.
  • Wiley Interdiscip Rev Dev Biol. 2013 Jul;2(4):461-78. doi: 10.1002/wdev.89.
  • [Article PDF] 
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
  • Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC; UK10K Consortium, Stemple D, Lin YY, Muntoni F.
  • Am J Hum Genet. 2013 Mar 7;92(3):354-65. doi: 10.1016/j.ajhg.2013.01.016. Epub 2013 Feb 28.
  • [Article PDF] 
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.
  • Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L.
  • Hum Mutat. 2013 Mar;34(3):498-505. doi: 10.1002/humu.22263.
  • [Article PDF] 
Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
  • Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, Leclair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA.
  • Neuron. 2013 Jan 23;77(2):259-273. doi: 10.1016/j.neuron.2012.11.002. Epub 2013 Jan 23
  • [Article PDF] 
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
  • Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA.
  • J Child Neurol. 2013 Feb;28(2):198-203. doi: 10.1177/0883073812467850. Epub 2012 Dec 23
  • [Article PDF] 
Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation
  • Yang YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J, Tatarakis A, Mahajan MA, Samuels HH, Shi Y, Golden JA, Mahajnah M, Shenhav R, Walsh CA.
  • Cell. 2012 Nov 21;151(5):1097-1112. doi: 10.1016/j.cell.2012.10.043.
  • [Article PDF] 
Genomic and Personalized Medicine, Second Edition, Chapter on Autism Spectrum Disorders
  • Timothy W. Yu, Michael Coulter, Maria Chahrour, and Christopher A. Walsh.
  • "Autism Spectrum Disorders." Trans. Array Genomic and Personalized Medicine. Geoffrey S. Ginsburg and Huntington F. Willard. Second Edition. London: Elsevier Inc., 2012. 1067-1074. Print.
  • [Article PDF] 
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain
  • Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA.
  • Cell. 2012 Oct 26;151(3):483-96. doi: 10.1016/j.cell.2012.09.035.
  • [Article PDF] 
Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI
  • G. Gonzalez, L. Vedolin, B. Barry, A. Poduri, C. Walsh, and A.J. Barkovich
  • AJNR Am J Neuroradiol. 2012 Oct 11. [Epub ahead of print]
  • [Article PDF] 
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development
  • Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA.
  • Nat Genet. 2012 Sep 30. doi: 10.1038/ng.2425. [Epub ahead of print]
  • [Article PDF] 
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
  • Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA.
  • Am J Hum Genet. 2012 Sep 7;91(3):541-7.
  • [Article PDF] 
Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
  • Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW.
  • Nucleic Acids Res. 2012 Aug 1;40(14):6608-19. Epub 2012 Apr 15.
  • [Article PDF] 
Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins.
  • Liu JS, Schubert CR, Fu X, Fourniol FJ, Jaiswal JK, Houdusse A, Stultz CM, Moores CA, Walsh CA.
  • Mol Cell. 2012 Aug 1. [Epub ahead of print]
  • [Article PDF] 
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
  • Poduri A, Chopra SS, Neilan EG, Christina Elhosary P, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stodberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV.
  • Epilepsia. 2012 Aug;53(8):e146-e150. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12.
  • [Article PDF] 
Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations.
  • Poduri A, Evrony GD, Cai X, Elhosary PC, Beroukhim R, Lehtinen MK, Hills LB, Heinzen EL, Hill A, Hill RS, Barry BJ, Bourgeois BF, Riviello JJ, Barkovich AJ, Black PM, Ligon KL, Walsh CA
  • Neuron. 2012 Apr 12;74(1):41-8
  • [Article PDF] 
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
  • Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR; ARRA Autism Sequencing Collaboration, Greenberg ME, Gabriel SB, Walsh CA
  • PLoS Genet. 2012 Apr;8(4):e1002635. Epub 2012 Apr 12
  • [Article PDF] 
FLNA genomic rearrangements cause periventricular nodular heterotopia.
  • Clapham KR, Yu TW, Ganesh VS, Barry B, Chan Y, Mei D, Parrini E, Funalot B, Dupuis L, Nezarati MM, du Souich C, van Karnebeek C, Guerrini R, Walsh CA
  • Neurology. 2012 Jan 24;78(4):269-78. Epub 2012 Jan 11
  • [Article PDF] 
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: Two new families with a mutation in the C2orf37 gene.
  • Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A.
  • Am J Med Genet A. 2011 Nov;155(11):2647-53. doi: 10.1002/ajmg.a.34219
  • [Article PDF] 
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly.
  • Alkuraya FS, Cai X, Emery C, Mochida GH, Al-Dosari MS, Felie JM, Hill RS, Barry BJ, Partlow JN, Gascon GG, Kentab A, Jan M, Shaheen R, Feng Y, Walsh CA
  • Am J Hum Genet. 2011 Apr 29 [Epub ahead of print]
  • [Article PDF] 
Congenital Microcephaly with a Simplified Gyral Pattern: Associated Findings and Their Significance.
  • Adachi Y, Poduri A, Kawaguch A, Yoon G, Salih MA, Yamashita F, Walsh CA, Barkovich AJ
  • AJNR Am J Neuroradiol. 2011 Mar 31
  • [Article PDF] 
The cerebrospinal fluid provides a proliferative niche for neural progenitor cells.
  • Maria K. Lehtinen, Mauro W. Zappaterra, Xi Chen, Yawei J. Yang, Anthony D. Hill, Melody Lun, Thomas Maynard, Dilenny Gonzalez, Seonhee Kim, Ping Ye, A. Joseph D'Ercole, Eric T. Wong, Anthony S. LaMantia, and Christopher A. Walsh
  • Neuron. 2011 Mar 10;69(5):893-905
  • [Article PDF] 
What disorders of cortical development tell us about the cortex: one plus one does not always make two.
  • Manzini MC, Walsh CA
  • Curr Opin Genet Dev. 2011 Jan 31. [Epub ahead of print]
  • [Article PDF] 
A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct Emx2 mutant phenotype.
  • Dwyer ND, Manning DK, Moran JL, Mudbhary R, Fleming MS, Favero CB, Vock VM, O'Leary DD, Walsh CA, Beier DR
  • Neural Dev. 2011 Jan 7;6(1):3. [Epub ahead of print]
  • [Article PDF] 
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
  • Mochida GH, Ganesh VS, Felie JM, Gleason D, Hill RS, Clapham KR, Rakiec D, Tan WH, Akawi N, Al-Saffar M, Partlow JN, Tinschert S, Barkovich AJ, Ali B, Al-Gazali L, Walsh CA
  • Am J Hum Genet. 2010 Nov 23. [Epub ahead of print]
  • [Article PDF] 
Neurogenesis at the Brain-Cerebrospinal Fluid Interface
  • Lehtinen MK, Walsh CA
  • Annu Rev Cell Dev Biol. 2010 Oct 29
  • [Article PDF] 
SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System.
  • Efrat Birk, Adi Har-Zahav, Chiara M. Manzini, Metsada Pasmanik-Chor, Liora Kornreich, Christopher A. Walsh, Konrad Noben-Trauth, Adi Albin, Amos J. Simon, Laurence Colleaux, Yair Morad, Limor Rainshtein, David J. Tischfield, Peter Wang, Nurit Magal, Idit Maya, Noa Shoshani, Gideon Rechavi, Doron Gothelf, Gal Maydan, Mordechai Shohat, and Lina Basel-Vanagaite
  • Am J Hum Genet. 2010 Nov 12;87(5):694-700. Epub 2010 Oct 28
  • [Article PDF] 
Allelic diversity in human developmental neurogenetics: insights into biology and disease.
  • Walsh CA, Engle EC
  • Neuron. 2010 Oct 21;68(2):245-53
  • [Article PDF] 
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
  • Mellado C, Poduri A, Gleason D, Elhosary PC, Barry BJ, Partlow JN, Chang BS, Shaw GM, Barkovich AJ, Walsh CA
  • Am J Med Genet A. 2010 Oct 14. [Epub ahead of print]
  • [Article PDF] 
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
  • Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topcu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA
  • Nat Genet. 2010 Nov;42(11):1015-20. Epub 2010 Oct 3
  • [Article PDF] 
Mutation in PQBP1 is associated with periventricular heterotopia.
  • Sheen VL, Torres AR, Du X, Barry B, Walsh CA, Kimonis VE
  • Am J Med Genet A. 2010 Nov;152A(11):2888-90
  • [Article PDF] 
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
  • Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, Leclair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL
  • Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47
  • [Article PDF] 
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.
  • Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD
  • Development. 2010 Jun;137(11):1907-17
  • [Article PDF] 
Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex.
  • Cubelos B, Sebastian-Serrano A, Beccari L, Calcagnotto ME, Cisneros E, Kim S, Dopazo A, Alvarez-Dolado M, Redondo JM, Bovolenta P, Walsh CA, Nieto M
  • Neuron. 2010 May 27;66(4):523-35
  • [Article PDF] 
The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
  • Debra L Silver, Dawn E Watkins-Chow, Karisa C Schreck, Tarran J Pierfelice, Denise M Larson, Anthony J Burnetti, Hung-Jiun Liaw, Kyungjae Myung, Christopher A Walsh, Nicholas Gaiano, and William J Pavan
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The apical complex couples cell fate and cell survival to cerebral cortical development.
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Developmental and degenerative features in a complicated spastic paraplegia.
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Clinical genetic testing for patients with Autism Spectrum Disorder.
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Genetic malformations of the human frontal lobe.
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Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
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Detecting natural selection by empirical comparison to random regions of the genome.
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A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
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Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
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The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
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X-Linked Periventricular Heterotopia.
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Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
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Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control.
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Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
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Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment.
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Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
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Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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Autism and brain development.
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Identifying autism loci and genes by tracing recent shared ancestry.
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Identification of neural outgrowth genes using genome-wide RNAi.
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Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
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Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
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GPR56 regulates pial basement membrane integrity and cortical lamination.
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Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination.
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Association between microdeletion and microduplication at 16p11.2 and autism.
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A structural basis for reading fluency: white matter defects in a genetic brain malformation.
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Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
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A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.
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Doublecortin is expressed in articular chondrocytes.
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Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone.
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Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
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A Comparative Proteomic Analysis of Human and Rat Embryonic Cerebrospinal Fluid.
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Disease-associated mutations affect GPR56 protein trafficking and cell surface expression.
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Polymicrogyria Overview.
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Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
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A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.
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Numb, neurogenesis and epithelial polarity.
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Comprehensive EMX2 genotyping of a large schizencephaly case series.
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NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
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Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens."
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Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration.
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The role of RELN in lissencephaly and neuropsychiatric disease.
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Insights into the gyrification of developing ferret brain by magnetic resonance imaging.
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Genes that control the size of the cerebral cortex.
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Filamin A (FLNA) is required for cell-cell contact in vascular development and cardiac morphogenesis.
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Periventricular heterotopia with complete agenesis of the corpus callosum : a case report.
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Brain Evolution and Uniqueness in the Human Genome.
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Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
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Molecular approaches to brain asymmetry and handedness.
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Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia.
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Genomic and evolutionary analyses of asymmetrically expressed genes in human fetal left and right cerebral cortex.
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An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation.
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Periventricular nodular heterotopia and Williams syndrome.
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Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
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Impaired proliferation and migration in human Miller-Dieker neural precursors.
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Cerebellar ataxia with progressive improvement.
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Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression.
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Neocortical neuronal arrangement in Miller Dieker syndrome.
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Overlapping expression of ARFGEF2 and Filamin A in the neuroependymal lining of the lateral ventricles: insights into the cause of periventricular heterotopia.
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A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.
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Genetic Interactions between Doublecortin and Doublecortin-like Kinase in Neuronal Migration and Axon Outgrowth.
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POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
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Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.
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Periventricular heterotopia: new insights into ehlers-danlos syndrome.
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ASPM mutations identified in patients with primary microcephaly and seizures.
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Molecular insights into human brain evolution.
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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.
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The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
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The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive nonsyndromic mental retardation.
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Cytoplasmic LEK1 is a regulator of microtubule function through its interaction with the LIS1 pathway.
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Early Asymmetry of Gene Transcription Between Embryonic Human Left and Right Cerebral Cortex.
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EMX2-independent familial schizencephaly: Clinical and genetic analyses.
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Targeted disruption of tgif, the mouse ortholog of a human holoprosencephaly gene, does not result in holoprosencephaly in mice.
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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
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Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia.
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Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.
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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
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Directed migration of neural stem cells to sites of CNS injury by the stromal cell-derived factor 1{alpha}/CXC chemokine receptor 4 pathway.
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Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II-IV of the cerebral cortex.
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The many faces of filamin: a versatile molecular scaffold for cell motility and signalling.
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Mitotic spindle regulation by Nde1 controls cerebral cortical size.
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A novel signaling mechanism in brain development.
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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
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Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus.
  • Sheen VL, Basel-Vanagaite L, Goodman JR, Scheffer IE, Bodell A, Ganesh VS, Ravenscroft R, Hill RS, Cherry TJ, Shugart YY, Barkovich J, Straussberg R, Walsh CA
  • Brain Dev. 2004 Aug;26(5):326-34
  • [Article PDF] 
Broader geographical spectrum of Cohen syndrome due to COH1 mutations.
  • Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA
  • J Med Genet. 2004 Jun;41(6):E87
  • [Article PDF] 
Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation.
  • Chang BS, Piao X, Giannini C, Cascino GD, Scheffer I, Woods CG, Topcu M, Tezcan K, Bodell A, Leventer RJ, Barkovich AJ, Grant PE, Walsh CA
  • Neurology. 2004 May 25;62(10):1722-8
  • [Article PDF] 
Genetics of disorders of cortical development.
  • Gaitanis JN, Walsh CA
  • Neuroimaging Clin N Am. 2004 May;14(2):219-29, viii. Review
  • [Article PDF] 
Genetic basis of developmental malformations of the cerebral cortex.
  • Mochida GH, Walsh CA
  • Arch Neurol. 2004 May;61(5):637-40
  • [Article PDF] 
Accelerated Evolution of the ASPM Gene Controlling Brain Size Begins Prior to Human Brain Expansion.
  • Kouprina N, Pavlicek A, Mochida GH, Solomon G, Gersch W, Yoon YH, Collura R, Ruvolo M, Barrett JC, Woods CG, Walsh CA, Jurka J, Larionov V
  • PLoS Biol. 2004 May;2(5):E126. Epub 2004 Mar
  • [Article PDF] 
G protein-coupled receptor-dependent development of human frontal cortex.
  • Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, Descarie JC, Barkovich AJ, Walsh CA
  • Science. 2004 Mar 26; 303(5666):2033-6
  • [Article PDF] 
The hyh Mutation Uncovers Roles for αSnap in Apical Protein Localization and Control of Neural Cell Fate.
  • Chae TH, Kim S, Marz KE, Hanson PI, Walsh CA
  • Nature Genetics. 2004 Mar;36(3):264-70
  • [Article PDF] 
Development.
  • Dickson B, Walsh CA
  • Curr Opin Neurobiol. 2004 Feb;14(1):1-5. Review
  • [Article PDF] 
Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.
  • Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA
  • Nature Genetics. 2004 36(1):69-76
  • [Article PDF] 
Protein-truncating mutations in ASPM cause variable reduction in brain size.
  • Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG
  • Am J Hum Genet. 2003 Nov;73(6):1170-7
  • [Article PDF] 
Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations.
  • Chang BS, Walsh CA
  • Epilepsy Behav. 2003 4(6):618-25
  • [Article PDF] 
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
  • Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA
  • Neurology. 2003 60:1664-7
  • [Article PDF] 
Characterization of Foxp2 and Fox1 mRNA and protein in the developing and mature brain.
  • Ferland RJ, Cherry TJ, Preware PO, Morrisey EE, Walsh CA
  • J. Comp. Neurol. 2003 460:266-279
  • [Article PDF] 
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
  • Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA
  • Ann. Neurol. 2003 53:596-606
  • [Article PDF] 
Cryptic t(1;12) (q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.
  • Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh CA, Neri G
  • Am. J. Med. Genet. 2003 117A:65-71
  • [Article PDF] 
The DCX-domain tandems of Doublecortin and doublecortin-like kinase.
  • Kim MH, Cierpicki T, Derewenda U, Krowarsch D, Feng Y, Devedjiev Y, Dauter Z, Walsh CA, Otlewski J, Bushweller JH, Derewenda ZS
  • Nature Struct. Biol. 2003 10:324-33
  • [Article PDF] 
Markers of cellular proliferation are expressed in cortical tubers.
  • Lee A, Maldonado M, Baybis M, Walsh CA, Scheithauer B, Yeung R, Parent J, Weiner HL, Crino PB
  • Ann. Neurology. 2003 53:668-73
  • [Article PDF] 
Increased neuronal production, enlarged forebrains, and cytoarchitectural distortions in Beta Catenin transgenic mice.
  • Chenn A, Walsh CA
  • Cerebral Cortex 2003 13: 599-606
  • [Article PDF] 
Reelin is expressed in the olfactory system but is not a guidance cue for universal axons.
  • Teillon S, Yiu G, Walsh CA
  • Dev Brain Res 2003 140: 303-307
  • [Article PDF] 
Periventricular heterotopia associated with chromosome 5p anomalies.
  • Sheen V, Wheless J, Bodell A, Bravermann E, Cotter P, Rauen K, Glenn O, Weisiger K, Packman S, Walsh C, Sherr E
  • Neurology 2003 60: 1033-1036
  • [Article PDF] 
Autosomal recessive form of periventricular heterotopia.
  • Sheen V, Topcu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill R, Ganesh V, Cherry T, Shugart Y, Walsh C
  • Neurology 2003 60: 1108-1112
  • [Article PDF] 
Genetic Disorders of Human Cerebral Cortical Development.
  • Walsh CA
  • Advances in Clinical Neurosciences. 2002; 12: 515-527
  • [Article PDF] 
Smooth, rough and upside down neocortical development.
  • Olson E and Walsh CA
  • Current Opinion in Genetics and Development 2002:12:320-327
  • [Article PDF] 
Filamin A (filamin1) and filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.
  • Sheen V, Feng Y, Graham D, Takafuta T, Shapiro SS & Walsh C
  • Human Molecular Genetics. 2002 11:2845-2854
  • [Article PDF] 
ASPM is a major determinant of cerebral cortical size.
  • Bond J, Roberts E, Mochida GH, Hampshire D, Scott S, Askham JM, Springell K, Mahadevan M, Crow Y, Markham AF, Walsh CA, Woods CG
  • Nature Genetics. 2002 32:316-320
  • [Article PDF] 
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
  • Valero de Bernabe DB, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG
  • Am. J. Human Genetics. 2002 71:1033-43
  • [Article PDF] 
Doublecortin is required in mice for lamination of the hippocampus but not the neocortex.
  • Corbo JC, Deuel TA, Long JM, LaPorte P, Tsai E, Wynshaw-Boris T, Walsh CA
  • J. Neurosci. 2002 22:7548-57
  • [Article PDF] 
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors.
  • Chenn A, and Walsh CA
  • Science. 2002 297:365-369
  • [Article PDF] 
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
  • Kakita A, Hayashi S, Moro F, Guerrini R, Ozawa T, Ono K, Kameyama S, Walsh CA, Takahashi H
  • Acta Neuropathol. 2002 104:649-57
  • [Article PDF] 
Evidence of common progenitors and patterns of dispersion in rat striatum and cerebral cortex.
  • Reid CB, Walsh CA
  • The Journal of Neuroscience. 2002 22:4002-4014
  • [Article PDF] 
An Autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP) maps to chromosome 16 q12.2-21.
  • Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA
  • Am. J. Human Genetics. 2002 70:1028-1033
  • [Article PDF] 
Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7.
  • Chae TH, Allen KM, Davisson MT, Sweet, HO, Walsh CA
  • Mammalian Genome. 2002 13:239-44
  • [Article PDF] 
Genetic malformations of the human cerebral cortex.
  • Sabry M, Mochida G, Walsh CA
  • In Principles and Practice of Medical Genetics. B. Korf, ed. 2002;112:3012-3035
Patterning of the dorsal telencephalon and cerebral cortex by a roofplate-Lhx2 pathway.
  • Monuki ES, Porter FD, and Walsh CA
  • Neuron. 2001 Nov 20;32(4):591-604
  • [Article PDF] 
Mechanisms of cerebral cortical patterning in mice and humans.
  • Monuki ES and Walsh CA
  • Nature Neuroscience. 2001:4:1199-1206
  • [Article PDF] 
Protein-protein interactions, cytoskeletal regulation, and neuronal migration.
  • Feng Y, and Walsh CA
  • Nature Neuroscience Reviews. 2001:408-416
  • [Article PDF] 
Molecular genetics of human microcephaly.
  • Mochida GH, Walsh CA
  • Current Opinion in Neurology. 2001;14:151-156
  • [Article PDF] 
Neuroscience in the post-genome era: an overview.
Human brain malformations and their lessons for neuronal migration. Ann. Rev.
  • Ross, ME and Walsh, CA
  • Neurosci. 2001;24:1041-70
  • [Article PDF] 
Telencephalic Neural precursors appear to be restricted to regional and glial fates before the onset of neurogenesis.
  • McCarthy M, Turnbull DH, Walsh CA, Fishell G
  • Neuroscience. 2001 21: 6772-6781
  • [Article PDF] 
Callosal agenesis with cyst A better understanding and new classification.
  • Barkovich AJ, Simon EM, Walsh CA
  • Neurology. 2001 56:220-227
  • [Article PDF] 
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopias in males as well as in females.
  • Sheen VL, Dixon P, Hong SE, Fox JW, Kinton L, Sisodiya SM, Duncan JS, Seni HM, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole A, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida G, Berkovic SF, Andermann E, Dobyns WB, Wood NW & Walsh CA
  • Human Molecular Genetics. 2001 10: 1775-1783
  • [Article PDF] 
Protein-protein interactions, cytoskeletal regulation, and neuronal migration.
  • Feng Y, and Walsh CA
  • Nature Neuroscience Reviews. 2001:408-416
Human brain malformations and their lessons for neuronal migration.
  • Ross, ME and Walsh, CA
  • Ann. Rev. Neurosci. 2001;24:1041-70
Neuroscience in the post-genome era: an overview.
  • Walsh CA
  • Trends in Neurosciences. 2001:363-364
Molecular genetics of human microcephaly.
  • Mochida GH, Walsh CA
  • Current Opinion in Neurology. 2001;14:151-156
Potential mechanisms of mutations that affect neuronal migration in man and mouse.
  • Walsh CA, Goffinet AM
  • Current Opinion in Genetic Development. 2000 Jun;10(3):270-274
  • [PubMed Link] 
Genetic and neuroradiological heterogeneity of double cortex syndrome.
  • Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA
  • Annals of Neurology 2000 Feb;47(2):265-9
  • [PubMed Link] 
LIS1 Regulates CNS Lamination by Interacting with mNudE, a Central Component of the Centrosome.
  • Feng YF, Olson EC, Flanagan L, Stukenberg T, Kirschner MC, Walsh CA
  • Neuron. 2000 28:665-679
  • [Article PDF] 
A mapping label required for normal scale of body representation in the cortex.
  • Vanderhaeghen P, Lu Q, Prakash N, Frisen J, Walsh CA, Frostig RD, Flanagan JG
  • Nature Neurosci. 2000 3:358-365
  • [PubMed Link] 
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: Neuroimaging findings.
  • Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA
  • Pediatric Radiology. 2000 30: 748-755
  • [Article PDF] 
Somatic and germline mosaic mutations in the doublecortin gene associated with variable phenotypes.
  • Gleeson, JG, Minnerath S, Kuzniecky RI, Dobyns WB, Ross ME, Young IA, Walsh CA
  • American Journal of Human Genetics. 2000 67: 574-581
  • [Article PDF] 
Patient mutations in Doublecortin define a repeated microtubule-binding domain.
  • Taylor KR, Holzer A, Walsh CA, Bazan JF, Gleeson JG
  • Journal of Biological Chemistry. 2000 275: 34442-34450
  • [Article PDF] 
Autosomal recessive lissencephaly with cerebellar hypoplasia (LCH) is associated with human reelin gene mutations.
  • Hong SE, Huang DT, Shugart YY, Al Shahwan S, Grant PE, Hourihane JOB, Martin NDT, Walsh CA
  • Nature Genetics. 2000 26: 93-96
  • [Article PDF] 
Reelin binds a3&Mac254;1 integrin and inhibits neuronal migration.
  • Dulabon L, Olson EC, Gordy M, Eisenhuth S, McGrath B, Walsh CA, Kreidberg JA, Anton ES
  • Neuron. 2000 27: 33-44
  • [Article PDF] 
DCAMKL1 encodes a protein kinase with homology to Doublecortin that regulates microtubule polymerization in a kinase-independent fashion.
  • Lin PT, Glesson JG, Corbo JC, Flanagan L, Walsh CA
  • J. Neurosci. 2000 20: 9152-9161
  • [Article PDF] 
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
  • Bienvenu T, des Portes V, McDonell N, Carrie A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns J P ,Allen K, Walsh C, Boue A, Kahn A, Chelly J, Beldjord, CA
  • Am J Med Gene. 2000 93, 294-8
  • [Article PDF] 
Proto-mapping the areas of cerebral cortex: transcription factors make the grade.
  • Monuki ES and Walsh CA
  • Nature Neuroscience, 2000 640-641
Neuronal migration disorders in men and mouse: from genetic diseases to developmental mechanisms.
  • Gleeson JG and Walsh CA
  • Trends in Neurosciences, 2000
Progress in mapping the genes for epilepsy.
  • Walsh, CA
  • Journal Watch Neurology. 2000 2:30
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia.
  • Illarioshkin SN, Allen KM, Gleeson JG, Tsuji S, Ikeuchi T, Markova ED, Walsh CA, Ivanova-Smolenskaya IA
  • Journal of Neurology. 1999 Dec;246(12):1177-80
  • [PubMed Link] 
Perspectives: neurobiology. Cranking it up a notch.
  • Chenn A, Walsh CA
  • Science. 1999 Oct 22;286(5440):689-90
  • [PubMed Link] 
Coexistence of widespread clones and large radial clonal patterns in early ferret cortex.
  • Ware ML, Tavasoie S, Reid CB, Walsh CA
  • Cerebral Cortex. 1999 Sep;9(6):636-45
  • [PubMed Link] 
Genes that regulate neuronal migration in the cerebral cortex.
  • Allen KM, Walsh CA
  • Epilepsy Research. 1999 Sep;36(2-3):143-54
  • [PubMed Link] 
Differences in gyral pattern distinguish chromosome 17-linked lissencephaly and X-linked lissencephaly.
  • Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, and Barkovich AJ
  • Neurology. 1999 Jul 22;53(2):270-7
  • [PubMed Link] 
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.
  • Fox JW, Walsh CA
  • American Journal of Human Genetics. 1999 Jul;65(1):19-24
  • [PubMed Link] 
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons.
  • Gleeson JG, Lin PT, Flanagan LA, Walsh CA
  • Neuron. 1999 Jun;23(2):257-71
  • [PubMed Link] 
Genetic malformations of the human cerebral cortex.
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
  • Gleeson JG, Minnerath SR, Allen KM, Fox JW, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Leroy R, Andermann E, Wheless JW, Dobyns WB, Ross ME, Walsh CA
  • Annals of Neurology. 1999 Feb;45(2):146-53
  • [PubMed Link] 
Clonal mixing, clonal restriction, and specification of cell types in the developing rat olfactory bulb.
  • Reid CB, Liang I, and Walsh, CA
  • Journal of Comparative Neurology. 1999 Jan 5;403(1):106-18
  • [PubMed Link] 
Cell lineage and cell migration in the developing cerebral cortex.
  • Ware ML and Walsh CA
  • In Cell Fate and Cell Fate Determination. Ed. SA Moody. New York: Academic Press, 1999, 529-547
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
  • Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME
  • Human Molecular Genetics. 1998 Dec;7(13):2029-37
  • [PubMed Link] 
A YAC contig in Xq23, from DXS287 to DXS2088, spanning the critical region for double cortex/X-linked lissencephaly (DC/XLIS).
  • Allen KM, Gleeson JG, Shoup SM, Walsh CA
  • Genomics. 1998 Sep 1;52(2):214-8
  • [PubMed Link] 
LISsen up!
X-linked female band heterotopia-male lissencephaly syndrome.
  • Berg MJ, Schifitto G, Powers JM, Martinez-Capolino C, Fong CT, Myers GJ, Epstein LG, Walsh CA
  • Neurology. 1998 Apr;50(4):1143-6
  • [PubMed Link] 
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
  • Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA
  • Neuron. 1998 21(6): 1315-1325
  • [Article PDF] 
PAK3 mutation in nonsyndromic X-linked mental retardation.
  • Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA
  • Nature Genetics. 1998 20(1): 25-30
  • [PubMed Link] 
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
  • Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA
  • Cell. 1998 92(1): 63-72
  • [Article PDF] 
Early events in the development of the cerebral cortex.
  • Walsh CA
  • In Epilepsy: A Comprehensive Textbook, 2nd edition and CD-ROM edition. Ed. Engel J and Pedley TA. New York: Lippincott-Raven Publishers, 1998
Cell lineage analysis in the central nervous system.
  • Walsh CA
  • In Encyclopedia of Neuroscience. Berlin: Elsevier Press, 1998
Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype.
  • Gonzalez JL, Russo CJ, Goldowitz D, Sweet HO, Davisson MT, Walsh CA
  • Journal of Neuroscience. 1997 Dec 1;17(23):9204-11
  • [PubMed Link] 
Epilepsy Genetics.
  • Walsh CA
  • In On the Brain. Winter 1997
Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse.
  • Ware ML, Fox JW, Gonzalez JL, Davis NM, Lambert de Rouvroit C, Russo CJ, Chua SC Jr, Goffinet AM, Walsh CA
  • Neuron. 1997 Aug;19(2):239-49
  • [PubMed Link] 
Clonal dispersion and evidence for asymmetric cell division in ferret cortex.
  • Reid CB, Tavazoie SF, Walsh CA
  • Development. 1997 Jun;124(12):2441-50
  • [PubMed Link] 
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
  • Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motte J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA
  • Human Molecular Genetics. 1997 Apr;6(4):555-62
  • [PubMed Link] 
New genetic insights into cerebral cortical development.
  • Gleeson JG and Walsh CA
  • In Normal and Abnormal Development of the Cerebral Cortex. Ed. A Galaburda and Y Christen. Berlin: Springer-Verlag, 1997, 145-163
X-linked malformations of neuronal migration.
  • Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL
  • Neurology. 1996 Aug;47(2):331-9
  • [PubMed Link] 
Shaking down new epilepsy genes.
  • Allen KM, Walsh C
  • Nature Medicine. 1996 May;2(5):516-8
  • [PubMed Link] 
Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.
  • Eksioglu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk GM, Parisi J, Huttenlocher PR, Walsh CA
  • Neuron. 1996 Jan;16(1):77-87
  • [Article PDF] 
Early development of the cerebral cortex.
  • Reid CB, Walsh CA
  • Progress in Brain Research. 1996;108:17-30
  • [PubMed Link] 
Neural development: identical twins separated at birth?
Systematic widespread clonal organization in cerebral cortex.
  • Reid CB, Liang I, Walsh CA
  • Neuron. 1995 Aug;15(2):299-310
  • [PubMed Link] 
PCR-based techniques for utilizing retroviruses as cell lineage markers.
  • Walsh CA
  • In Methods in Molecular Genetics, Vol. 4: Molecular Virology. Ed. Adolph KW. Orlando, FL: Academic Press, 1995; 7: 280-295
Neuronal identity, neuronal migration, and epileptic disorders of the cerebral cortex.
  • Walsh CA
  • In Brain Development and Epilepsy. Ed. Schwartzkroin P et al. New York: Oxford University Press, 1995; pp. 122-143
Cell lineage and patterns of migration in the developing cortex.
  • Walsh C, Reid C
  • Ciba Foundation Symposium. 1995;193:21-40; discussion 59-70
  • [PubMed Link] 
Clonal dispersion in proliferative layers of developing cerebral cortex.
  • Walsh C, Cepko CL
  • Nature. 1993 Apr 15;362(6421):632-5
  • [PubMed Link] 
Cell lineage and regional specification in the mammalian neocortex.
  • Walsh CA
  • Perspectives on Developmental Biology. 1993;1(2):75-80
  • [PubMed Link] 
Lineage analysis using retrovirus vectors.
  • Cepko CL, Ryder EF, Austin CP, Walsh C, Fekete DM
  • Methods in Enzymology. 1993;225:933-60
  • [PubMed Link] 
Widespread dispersion of neuronal clones across functional regions of the cerebral cortex.
  • Walsh C, Cepko CL
  • Science. 1992 Jan 24;255(5043):434-40
  • [PubMed Link] 
Multipotent neural cell lines can engraft and participate in development of mouse cerebellum.
  • Snyder EY, Deitcher DL, Walsh C, Arnold-Aldea S, Hartwieg EA, Cepko CL
  • Cell. 1992 Jan 10;68(1):33-51
  • [PubMed Link] 
Cell lineage and cell migration in the developing cerebral cortex.
  • Walsh C, Cepko CL
  • Experientia. 1990 Sep 15;46(9):940-7
  • [PubMed Link] 
Studies of cortical development using retrovirus vectors.
  • Cepko CL, Austin CP, Walsh C, Ryder EF, Halliday A, Fields-Berry S
  • Cold Spring Harbor Symposium on Quantitative Biology. 1990;55:265-78
  • [PubMed Link] 
Clonally related cortical cells show several migration patterns.
  • Walsh C, Cepko CL
  • Science. 1988 Sep 9;241(4871):1342-5
  • [PubMed Link] 
Early uncrossed component of the developing optic nerve with a short extracerebral course: a light and electron microscopic study of fetal ferrets.
  • Guillery RW, Walsh C
  • Journal of Comparative Neurology. 1987 Nov 8;265(2):218-23
  • [PubMed Link] 
Changing glial organization relates to changing fiber order in the developing optic nerve of ferrets.
  • Guillery RW, Walsh C
  • Journal of Comparative Neurology. 1987 Nov 8;265(2):203-17
  • [PubMed Link] 
The optic nerves, optic chiasm, and optic tracts.
  • Walsh CA
  • In Encyclopedia of Neuroscience. Ed. Adelman G. Boston: Birkhauser Boston, 1987: 888-890
Age-related fiber order in the ferret's optic nerve and optic chiasm.
  • Walsh C
  • Journal of Neuroscience. 1986 Jun;6(6):1635-42
  • [PubMed Link] 
Bowl-game pulmonary embolism.
  • Walsh C, Lauer MS, Huang PL, Page RL
  • New England Journal of Medicine. 1986 May 15;314(20):1324
  • [PubMed Link] 
Age-related fiber order in the optic tract of the ferret.
  • Walsh C, Guillery RW
  • Journal of Neuroscience. 1985 Nov;5(11):3061-9
  • [PubMed Link] 
The topography of ganglion cell production in the cat's retina.
  • Walsh C, Polley EH
  • Journal of Neuroscience. 1985 Mar;5(3):741-50
  • [PubMed Link] 
A technique for flat embedding and en face sectioning of the mammalian retina for autoradiography.
  • Polley EH, Walsh C
  • Journal of Neuroscience Methods. 1984 Nov;12(1):57-64
  • [PubMed Link] 
Fibre order in the pathways from the eye to the brain.
  • Walsh C, Guillery RW
  • Trends in Neurosciences. 1984;7:208-211
Generation of cat retinal ganglion cells in relation to central pathways.
  • Walsh C, Polley EH, Hickey TL, Guillery RW
  • Nature. 1983 Apr 14;302(5909):611-4
  • [PubMed Link] 
Relationship of molecular structure to in vivo distribution of carbon-11-labeled compounds. VI. Carbon-11-labeled aliphatic diamines.
  • Winstead MB, Dischino DD, Munder NA, Walsh C, Winchell HS
  • European Journal of Nuclear Medicine. 1980 Apr;5(2):165-9
  • [PubMed Link] 
Testosterone stimulates ultrasound production by male hamsters.
  • Floody OR, Walsh C, Flanagan MT
  • Hormones and Behavior. 1979 Apr;12(2):164-71
  • [PubMed Link] 
 
 
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