Christopher A.  Walsh

Christopher Walsh, MD, PhD

Chief, Division of Genetics

  • Contact: 617-355-6401

Medical Services

Departments

  • Genetics and Genomics
  • Medicine

Languages

  • English

Programs

  • Brain Development and Genetics Clinic
  • Genetics Program
To schedule an appointment:

Experience and Education

Education

Undergraduate, Chemistry

Bucknell University, 1978

Lewisburg, PA

Graduate School, Neurobiology

The University of Chicago, 1983

Chicago, IL

Medical School, Neurology

Pritzker School of Medicine, The University of Chicago, 1985

Chicago, IL

Internship, Medicine

Massachusetts General Hospital, 1985

Boston, MA

Residency, Neurology

Massachusetts General Hospital, 1986

Boston, MA

Fellowship, Neurology and Genetics

Massachusetts General Hospital, 1989

Boston, MA

Certifications

  • Neurology

Research

Walsh Lab Web site

The goal of our research, teaching and clinical role is to identify and ultimately to test new targets for neurological therapy by studying the genetic causes of epileptic neurological disease. This work involves an ongoing interaction with patients, other physicians, and the research laboratory. My research laboratory consists of 16 postdoctoral fellows and visiting scientists, two full-time clinical genetic counselors, 3 graduate students, 3 technicians, and 2 undergraduate students. We have in the last few years used positional cloning methods to identify about a dozen genes that cause human neurological illnesses such as mental retardation and epilepsy, when they are mutated. Most recently we have turned our attention to autism and analyzed the genetics of that condition. We are presently trying to define the role that these genes play in the brain, by going back to study the patients, as well as to create animal models of disease. I also see patients in clinic to provide diagnostic and prognostic information, and have a full-time genetic counselor to provide genetic advice. We have an ongoing effort to identify genes for other human disorders including autism, dyslexia, and other forms of mental retardation and epilepsy.

Publications

Publications powered by Harvard Catalyst
  1. Evrony GD, Lee E, Park PJ, Walsh CA. Resolving rates of mutation in the brain using single-neuron genomics. Elife. 2016; 5.
  2. D'Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AT, Sestan N, Walsh CA. Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 Dec 2; 88(5):910-7.
  3. Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures. Am J Med Genet A. 2016 Feb; 170(2):435-40.
  4. 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. Somatic mutation in single human neurons tracks developmental and transcriptional history. Science. 2015 Oct 2; 350(6256):94-8.
  5. 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, 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, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-33.
  6. 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. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. 2015; 4.
  7. Imitola J, Khurana DS, Teplyuk NM, Zucker M, Jethva R, Legido A, Krichevsky AM, Frangieh M, Walsh CA, Carvalho KS. 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; 167(11):2808-16.
  8. 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. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015 Apr 28; 84(17):1745-50.
  9. Jamuar SS, Walsh CA. Genomic variants and variations in malformations of cortical development. Pediatr Clin North Am. 2015 Jun; 62(3):571-85.
  10. Johnson MB, Wang PP, Atabay KD, Murphy EA, Doan RN, Hecht JL, Walsh CA. Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex. Nat Neurosci. 2015 May; 18(5):637-46.
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  12. Murn J, Zarnack K, Yang YJ, Durak O, Murphy EA, Cheloufi S, Gonzalez DM, Teplova M, Curk T, Zuber J, Patel DJ, Ule J, Luscombe NM, Tsai LH, Walsh CA, Shi Y. Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt. Genes Dev. 2015 Mar 1; 29(5):501-12.
  13. 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. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann Neurol. 2015 Apr; 77(4):720-5.
  14. Bae BI, Jayaraman D, Walsh CA. Genetic changes shaping the human brain. Dev Cell. 2015 Feb 23; 32(4):423-34.
  15. Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2015 Feb 3; 10(4):645.
  16. Evrony GD, Lee E, Mehta BK, Benjamini Y, Johnson RM, Cai X, Yang L, Haseley P, Lehmann HS, Park PJ, Walsh CA. Cell lineage analysis in human brain using endogenous retroelements. Neuron. 2015 Jan 7; 85(1):49-59.
  17. 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. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57.
  18. De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15.
  19. Chaste P, Klei L, Sanders SJ, Hus V, Murtha MT, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, Lese Martin C, Beaudet AL, Lord C, State MW, Cook EH, Devlin B. 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 1; 77(9):775-84.
  20. 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. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43.
  21. Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA. Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep. 2014 Sep 11; 8(5):1280-9.
  22. Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA. CC2D1A regulates human intellectual and social function as well as NF-?B signaling homeostasis. Cell Rep. 2014 Aug 7; 8(3):647-55.
  23. Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 1; 23(21):5781-92.
  24. Chaste P, Sanders SJ, Mohan KN, Klei L, Song Y, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Martin CL, Devlin B, Beaudet AL, Cook EH, Kim SJ. 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.
  25. Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 3; 94(4):547-58.
  26. Bae BI, Tietjen I, Atabay KD, Evrony GD, Johnson MB, Asare E, Wang PP, Murayama AY, Im K, Lisgo SN, Overman L, Šestan N, Chang BS, Barkovich AJ, Grant PE, Topçu M, Politsky J, Okano H, Piao X, Walsh CA. Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning. Science. 2014 Feb 14; 343(6172):764-8.
  27. 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. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 1; 23(13):3456-66.
  28. Hu WF, Chahrour MH, Walsh CA. The diverse genetic landscape of neurodevelopmental disorders. Annu Rev Genomics Hum Genet. 2014; 15:195-213.
  29. Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA. SLC25A22 is a novel gene for migrating partial seizures in infancy. Ann Neurol. 2013 Dec; 74(6):873-82.
  30. Adachi Y, Mochida G, Walsh C, Barkovich J. Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients. Neuropediatrics. 2014 Apr; 45(2):93-101.
  31. Bae BI, Walsh CA. Neuroscience. What are mini-brains? Science. 2013 Oct 11; 342(6155):200-1.
  32. Walsh CA. Peter Huttenlocher (1931-2013). Nature. 2013 Oct 10; 502(7470):172.
  33. Wu MP, Doyle JR, Barry B, Beauvais A, Rozkalne A, Piao X, Lawlor MW, Kopin AS, Walsh CA, Gussoni E. 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.
  34. Picker JD, Walsh CA. New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep; 74(3):382-90.
  35. Poduri A, Evrony GD, Cai X, Walsh CA. Somatic mutation, genomic variation, and neurological disease. Science. 2013 Jul 5; 341(6141):1237758.
  36. Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH, Kim SJ. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry. 2013 Oct 15; 74(8):576-84.
  37. Zappaterra MW, LaMantia AS, Walsh CA, Lehtinen MK. Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants. J Vis Exp. 2013; (73):e50333.
  38. Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L. 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.
  39. 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, Stemple D, Lin YY, Muntoni F. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of a-dystroglycan. Am J Hum Genet. 2013 Mar 7; 92(3):354-65.
  40. 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. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73.
  41. Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA. Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care. J Child Neurol. 2013 Feb; 28(2):198-203.
  42. 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. Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell. 2012 Nov 21; 151(5):1097-112.
  43. Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA. Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain. Cell. 2012 Oct 26; 151(3):483-96.
  44. Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Martin CL, Martin DM, Morrow EM, Walsh CA, Melhem NM, Chaste P, Sutcliffe JS, State MW, Cook EH, Roeder K, Devlin B. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012; 3(1):9.
  45. Gilmore EC, Walsh CA. Genetic causes of microcephaly and lessons for neuronal development. Wiley Interdiscip Rev Dev Biol. 2013 Jul; 2(4):461-78.
  46. 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. CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. Nat Genet. 2012 Nov; 44(11):1260-4.
  47. 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. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 7; 91(3):541-7.
  48. Liu JS, Schubert CR, Fu X, Fourniol FJ, Jaiswal JK, Houdusse A, Stultz CM, Moores CA, Walsh CA. Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins. Mol Cell. 2012 Sep 14; 47(5):707-21.
  49. Sauls K, de Vlaming A, Harris BS, Williams K, Wessels A, Levine RA, Slaugenhaupt SA, Goodwin RL, Pavone LM, Merot J, Schott JJ, Le Tourneau T, Dix T, Jesinkey S, Feng Y, Walsh C, Zhou B, Baldwin S, Markwald RR, Norris RA. Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012 Oct 1; 96(1):109-19.
  50. Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50.
  51. Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW. 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.
  52. Chahrour MH, Yu TW, Lim ET, Ataman B, Coulter ME, Hill RS, Stevens CR, Schubert CR, Greenberg ME, Gabriel SB, Walsh CA. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012; 8(4):e1002635.
  53. 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. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron. 2012 Apr 12; 74(1):41-8.
  54. Marangi G, Orteschi D, Vigevano F, Felie J, Walsh CA, Manzini MC, Neri G. 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.
  55. Di Blasi C, Bellafiore E, Salih MA, Manzini MC, Moore SA, Seidahmed MZ, Mukhtar MM, Karrar ZA, Walsh CA, Campbell KP, Mantegazza R, Morandi L, Mora M. Variable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T &gt C mutation of LAMA2. BMC Res Notes. 2011; 4:534.
  56. Ben-Omran T, Ali R, Almureikhi M, Alameer S, Al-Saffar M, Walsh CA, Felie JM, Teebi A. 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.
  57. Lehtinen MK, Walsh CA. Neurogenesis at the brain-cerebrospinal fluid interface. Annu Rev Cell Dev Biol. 2011; 27:653-79.
  58. Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, Davis L, Wright NR, Dhodapkar RM, DiCola M, DiLullo NM, Fernandez TV, Fielding-Singh V, Fishman DO, Frahm S, Garagaloyan R, Goh GS, Kammela S, Klei L, Lowe JK, Lund SC, McGrew AD, Meyer KA, Moffat WJ, Murdoch JD, O'Roak BJ, Ober GT, Pottenger RS, Raubeson MJ, Song Y, Wang Q, Yaspan BL, Yu TW, Yurkiewicz IR, Beaudet AL, Cantor RM, Curland M, Grice DE, Günel M, Lifton RP, Mane SM, Martin DM, Shaw CA, Sheldon M, Tischfield JA, Walsh CA, Morrow EM, Ledbetter DH, Fombonne E, Lord C, Martin CL, Brooks AI, Sutcliffe JS, Cook EH, Geschwind D, Roeder K, Devlin B, State MW. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 Jun 9; 70(5):863-85.
  59. Labelle-Dumais C, Dilworth DJ, Harrington EP, de Leau M, Lyons D, Kabaeva Z, Manzini MC, Dobyns WB, Walsh CA, Michele DE, Gould DB. 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.
  60. 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. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011 May 13; 88(5):536-47.
  61. Lehtinen MK, Zappaterra MW, Chen X, Yang YJ, Hill AD, Lun M, Maynard T, Gonzalez D, Kim S, Ye P, D'Ercole AJ, Wong ET, LaMantia AS, Walsh CA. The cerebrospinal fluid provides a proliferative niche for neural progenitor cells. Neuron. 2011 Mar 10; 69(5):893-905.
  62. Manzini MC, Walsh CA. 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.
  63. Dwyer ND, Manning DK, Moran JL, Mudbhary R, Fleming MS, Favero CB, Vock VM, O'Leary DD, Walsh CA, Beier DR. A forward genetic screen with a thalamocortical axon reporter mouse yields novel neurodevelopment mutants and a distinct emx2 mutant phenotype. Neural Dev. 2011; 6:3.
  64. 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. 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.
  65. Sheen VL, Torres AR, Du X, Barry B, Walsh CA, Kimonis VE. Mutation in PQBP1 is associated with periventricular heterotopia. Am J Med Genet A. 2010 Nov; 152A(11):2888-90.
  66. Mellado C, Poduri A, Gleason D, Elhosary PC, Barry BJ, Partlow JN, Chang BS, Shaw GM, Barkovich AJ, Walsh CA. Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort. Am J Med Genet A. 2010 Nov; 152A(11):2736-42.
  67. Mahlstedt S, Fielding EN, Moore BS, Walsh CT. 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.
  68. Walsh CA, Engle EC. Allelic diversity in human developmental neurogenetics: insights into biology and disease. Neuron. 2010 Oct 21; 68(2):245-53.
  69. Yu TW, Mochida GH, Tischfield DJ, Sgaier SK, Flores-Sarnat L, Sergi CM, Topçu M, McDonald MT, Barry BJ, Felie JM, Sunu C, Dobyns WB, Folkerth RD, Barkovich AJ, Walsh CA. 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.
  70. 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. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5; 153B(4):937-47.
  71. Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, Mudbhary R, Barker JE, Walsh CA, Fleming MD. Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 2010 Jun; 137(11):1907-17.
  72. Cubelos B, Sebastián-Serrano A, Beccari L, Calcagnotto ME, Cisneros E, Kim S, Dopazo A, Alvarez-Dolado M, Redondo JM, Bovolenta P, Walsh CA, Nieto M. 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.
  73. Kim S, Lehtinen MK, Sessa A, Zappaterra MW, Cho SH, Gonzalez D, Boggan B, Austin CA, Wijnholds J, Gambello MJ, Malicki J, LaMantia AS, Broccoli V, Walsh CA. The apical complex couples cell fate and cell survival to cerebral cortical development. Neuron. 2010 Apr 15; 66(1):69-84.
  74. Silver DL, Watkins-Chow DE, Schreck KC, Pierfelice TJ, Larson DM, Burnetti AJ, Liaw HJ, Myung K, Walsh CA, Gaiano N, Pavan WJ. The exon junction complex component Magoh controls brain size by regulating neural stem cell division. Nat Neurosci. 2010 May; 13(5):551-8.
  75. Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA. Developmental and degenerative features in a complicated spastic paraplegia. Ann Neurol. 2010 Apr; 67(4):516-25.
  76. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35.
  77. Amrom D, Walsh CA. Genetic malformations of the human frontal lobe. Epilepsia. 2010 Feb; 51 Suppl 1:13-6.
  78. Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet. 2010 Mar; 42(3):245-9.
  79. Powers SE, Taniguchi K, Yen W, Melhuish TA, Shen J, Walsh CA, Sutherland AE, Wotton D. Tgif1 and Tgif2 regulate Nodal signaling and are required for gastrulation. Development. 2010 Jan; 137(2):249-59.
  80. Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA. 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.
  81. Poduri A, Wang Y, Gordon D, Barral-Rodriguez S, Barker-Cummings C, Ulgen A, Chitsazzadeh V, Hill RS, Risch N, Hauser WA, Pedley TA, Walsh CA, Ottman R. Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. Neurology. 2009 Oct 20; 73(16):1264-72.
  82. Yu F, Keinan A, Chen H, Ferland RJ, Hill RS, Mignault AA, Walsh CA, Reich D. Detecting natural selection by empirical comparison to random regions of the genome. Hum Mol Genet. 2009 Dec 15; 18(24):4853-67.
  83. Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5.
  84. Huang Z, Kawase-Koga Y, Zhang S, Visvader J, Toth M, Walsh CA, Sun T. Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control. Dev Biol. 2009 Mar 1; 327(1):132-42.
  85. Alazami AM, Al-Saif A, Al-Semari A, Bohlega S, Zlitni S, Alzahrani F, Bavi P, Kaya N, Colak D, Khalak H, Baltus A, Peterlin B, Danda S, Bhatia KP, Schneider SA, Sakati N, Walsh CA, Al-Mohanna F, Meyer B, Alkuraya FS. 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.
  86. Ferland RJ, Batiz LF, Neal J, Lian G, Bundock E, Lu J, Hsiao YC, Diamond R, Mei D, Banham AH, Brown PJ, Vanderburg CR, Joseph J, Hecht JL, Folkerth R, Guerrini R, Walsh CA, Rodriguez EM, Sheen VL. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet. 2009 Feb 1; 18(3):497-516.
  87. Manzini MC, Gleason D, Chang BS, Hill RS, Barry BJ, Partlow JN, Poduri A, Currier S, Galvin-Parton P, Shapiro LR, Schmidt K, Davis JG, Basel-Vanagaite L, Seidahmed MZ, Salih MA, Dobyns WB, Walsh CA. 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.
  88. Walsh CA, Morrow EM, Rubenstein JL. Autism and brain development. Cell. 2008 Oct 31; 135(3):396-400.
  89. Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia. 2009 Jun; 50(6):1344-53.
  90. Morrow EM, Kane A, Goff DC, Walsh CA. Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment. Schizophr Res. 2008 Dec; 106(2-3):265-7.
  91. Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. 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.
  92. Morrow EM, Yoo SY, Flavell SW, Kim TK, Lin Y, Hill RS, Mukaddes NM, Balkhy S, Gascon G, Hashmi A, Al-Saad S, Ware J, Joseph RM, Greenblatt R, Gleason D, Ertelt JA, Apse KA, Bodell A, Partlow JN, Barry B, Yao H, Markianos K, Ferland RJ, Greenberg ME, Walsh CA. Identifying autism loci and genes by tracing recent shared ancestry. Science. 2008 Jul 11; 321(5886):218-23.
  93. Sepp KJ, Hong P, Lizarraga SB, Liu JS, Mejia LA, Walsh CA, Perrimon N. Identification of neural outgrowth genes using genome-wide RNAi. PLoS Genet. 2008 Jul; 4(7):e1000111.
  94. Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. 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 1; 146A(13):1637-54.
  95. Cubelos B, Sebastián-Serrano A, Kim S, Redondo JM, Walsh C, Nieto M. Cux-1 and Cux-2 control the development of Reelin expressing cortical interneurons. Dev Neurobiol. 2008 Jun; 68(7):917-25.
  96. Li S, Jin Z, Koirala S, Bu L, Xu L, Hynes RO, Walsh CA, Corfas G, Piao X. GPR56 regulates pial basement membrane integrity and cortical lamination. J Neurosci. 2008 May 28; 28(22):5817-26.
  97. Pawlisz AS, Mutch C, Wynshaw-Boris A, Chenn A, Walsh CA, Feng Y. Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination. Hum Mol Genet. 2008 Aug 15; 17(16):2441-55.
  98. Fischbach MA, Walsh CT, Clardy J. 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.
  99. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D, Chakravarti A, Tanzi RE, Stefansson K, Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75.
  100. Chang BS, Katzir T, Liu T, Corriveau K, Barzillai M, Apse KA, Bodell A, Hackney D, Alsop D, Wong ST, Wong S, Walsh CA. A structural basis for reading fluency: white matter defects in a genetic brain malformation. Neurology. 2007 Dec 4; 69(23):2146-54.
  101. Rajab A, Manzini MC, Mochida GH, Walsh CA, Ross ME. A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. Am J Med Genet A. 2007 Dec 1; 143A(23):2761-7.
  102. Cubelos B, Sebastián-Serrano A, Kim S, Moreno-Ortiz C, Redondo JM, Walsh CA, Nieto M. Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone. Cereb Cortex. 2008 Aug; 18(8):1758-70.
  103. Fujimori DG, Hrvatin S, Neumann CS, Strieker M, Marahiel MA, Walsh CT. Cloning and characterization of the biosynthetic gene cluster for kutznerides. Proc Natl Acad Sci U S A. 2007 Oct 16; 104(42):16498-503.
  104. Shen Y, Irons M, Miller DT, Cheung SW, Lip V, Sheng X, Tomaszewicz K, Shao H, Fang H, Tang HS, Irons M, Walsh CA, Platt O, Gusella JF, Wu BL. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9.
  105. Zhang Y, Ryan JA, Di Cesare PE, Liu J, Walsh CA, You Z. Doublecortin is expressed in articular chondrocytes. Biochem Biophys Res Commun. 2007 Nov 23; 363(3):694-700.
  106. Teber S, Sezer T, Kafali M, Manzini MC, Konuk Yüksel B, Tekin M, Fitöz S, Walsh CA, Deda G. 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.
  107. Zappaterra MD, Lisgo SN, Lindsay S, Gygi SP, Walsh CA, Ballif BA. A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid. J Proteome Res. 2007 Sep; 6(9):3537-48.
  108. Hill AD, Chang BS, Hill RS, Garraway LA, Bodell A, Sellers WR, Walsh CA. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Am J Med Genet A. 2007 Aug 1; 143A(15):1692-8.
  109. Kantarci S, Al-Gazali L, Hill RS, Donnai D, Black GC, Bieth E, Chassaing N, Lacombe D, Devriendt K, Teebi A, Loscertales M, Robson C, Liu T, MacLaughlin DT, Noonan KM, Russell MK, Walsh CA, Donahoe PK, Pober BR. 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.
  110. Zhou Z, Lai JR, Walsh CT. Directed evolution of aryl carrier proteins in the enterobactin synthetase. Proc Natl Acad Sci U S A. 2007 Jul 10; 104(28):11621-6.
  111. Kim S, Walsh CA. Numb, neurogenesis and epithelial polarity. Nat Neurosci. 2007 Jul; 10(7):812-3.
  112. Jin Z, Tietjen I, Bu L, Liu-Yesucevitz L, Gaur SK, Walsh CA, Piao X. Disease-associated mutations affect GPR56 protein trafficking and cell surface expression. Hum Mol Genet. 2007 Aug 15; 16(16):1972-85.
  113. Tietjen I, Bodell A, Apse K, Mendonza AM, Chang BS, Shaw GM, Barkovich AJ, Lammer EJ, Walsh CA. Comprehensive EMX2 genotyping of a large schizencephaly case series. Am J Med Genet A. 2007 Jun 15; 143A(12):1313-6.
  114. Lu W, Quintero-Rivera F, Fan Y, Alkuraya FS, Donovan DJ, Xi Q, Turbe-Doan A, Li QG, Campbell CG, Shanske AL, Sherr EH, Ahmad A, Peters R, Rilliet B, Parvex P, Bassuk AG, Harris DJ, Ferguson H, Kelly C, Walsh CA, Gronostajski RM, Devriendt K, Higgins A, Ligon AH, Quade BJ, Morton CC, Gusella JF, Maas RL. NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. PLoS Genet. 2007 May 25; 3(5):e80.
  115. Lu J, Lian G, Lenkinski R, De Grand A, Vaid RR, Bryce T, Stasenko M, Boskey A, Walsh C, Sheen V. Filamin B mutations cause chondrocyte defects in skeletal development. Hum Mol Genet. 2007 Jul 15; 16(14):1661-75.
  116. Yu F, Hill RS, Schaffner SF, Sabeti PC, Wang ET, Mignault AA, Ferland RJ, Moyzis RK, Walsh CA, Reich D. Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science. 2007 Apr 20; 316(5823):370.
  117. Friocourt G, Liu JS, Antypa M, Rakic S, Walsh CA, Parnavelas JG. Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration. J Neurosci. 2007 Apr 4; 27(14):3875-83.
  118. Chang BS, Duzcan F, Kim S, Cinbis M, Aggarwal A, Apse KA, Ozdel O, Atmaca M, Zencir S, Bagci H, Walsh CA. The role of RELN in lissencephaly and neuropsychiatric disease. Am J Med Genet B Neuropsychiatr Genet. 2007 Jan 5; 144B(1):58-63.
  119. Neal J, Takahashi M, Silva M, Tiao G, Walsh CA, Sheen VL. Insights into the gyrification of developing ferret brain by magnetic resonance imaging. J Anat. 2007 Jan; 210(1):66-77.
  120. Chae TH, Walsh CA. Genes that control the size of the cerebral cortex. Novartis Found Symp. 2007; 288:79-90; discussion 91-8.
  121. Feng Y, Chen MH, Moskowitz IP, Mendonza AM, Vidali L, Nakamura F, Kwiatkowski DJ, Walsh CA. 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.
  122. Amadio JP, Walsh CA. Brain evolution and uniqueness in the human genome. Cell. 2006 Sep 22; 126(6):1033-5.
  123. Neal J, Raju GP, Bodell A, Apse K, Walsh CA, Sheen VL. Periventricular heterotopia with complete agenesis of the corpus callosum : a case report. J Neurol. 2006 Oct; 253(10):1358-9.
  124. Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M. Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol. 2006 Aug; 60(2):214-22.
  125. Neal J, Apse K, Sahin M, Walsh CA, Sheen VL. Deletion of chromosome 1p36 is associated with periventricular nodular heterotopia. Am J Med Genet A. 2006 Aug 1; 140(15):1692-5.
  126. Sun T, Walsh CA. Molecular approaches to brain asymmetry and handedness. Nat Rev Neurosci. 2006 Aug; 7(8):655-62.
  127. Rajab A, Yoo SY, Abdulgalil A, Kathiri S, Ahmed R, Mochida GH, Bodell A, Barkovich AJ, Walsh CA. An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation. Am J Med Genet A. 2006 Jul 15; 140(14):1504-10.
  128. Sheen VL, Ferland RJ, Harney M, Hill RS, Neal J, Banham AH, Brown P, Chenn A, Corbo J, Hecht J, Folkerth R, Walsh CA. Impaired proliferation and migration in human Miller-Dieker neural precursors. Ann Neurol. 2006 Jul; 60(1):137-44.
  129. Sun T, Collura RV, Ruvolo M, Walsh CA. 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.
  130. Ferland RJ, Gaitanis JN, Apse K, Tantravahi U, Walsh CA, Sheen VL. Periventricular nodular heterotopia and Williams syndrome. Am J Med Genet A. 2006 Jun 15; 140(12):1305-11.
  131. Gérard-Blanluet M, Sheen V, Machinis K, Neal J, Apse K, Danan C, Sinico M, Brugières P, Mage K, Ratsimbazafy L, Elbez A, Janaud JC, Amselem S, Walsh C, Encha-Razavi F. Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. Am J Med Genet A. 2006 May 15; 140(10):1041-6.
  132. Parrini E, Ramazzotti A, Dobyns WB, Mei D, Moro F, Veggiotti P, Marini C, Brilstra EH, Dalla Bernardina B, Goodwin L, Bodell A, Jones MC, Nangeroni M, Palmeri S, Said E, Sander JW, Striano P, Takahashi Y, Van Maldergem L, Leonardi G, Wright M, Walsh CA, Guerrini R. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. Brain. 2006 Jul; 129(Pt 7):1892-906.
  133. Tsao JW, Neal J, Apse K, Stephan MJ, Dobyns WB, Hill RS, Walsh CA, Sheen VL. Cerebellar ataxia with progressive improvement. Arch Neurol. 2006 Apr; 63(4):594-7.
  134. Olson EC, Kim S, Walsh CA. Impaired neuronal positioning and dendritogenesis in the neocortex after cell-autonomous Dab1 suppression. J Neurosci. 2006 Feb 8; 26(6):1767-75.
  135. Sheen VL, Ferland RJ, Neal J, Harney M, Hill RS, Banham A, Brown P, Chenn A, Corbo J, Hecht J, Folkerth R, Walsh CA. Neocortical neuronal arrangement in Miller Dieker syndrome. Acta Neuropathol. 2006 May; 111(5):489-96.
  136. Lu J, Tiao G, Folkerth R, Hecht J, Walsh C, Sheen V. 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.
  137. Chang BS, Apse KA, Caraballo R, Cross JH, Mclellan A, Jacobson RD, Valente KD, Barkovich AJ, Walsh CA. A familial syndrome of unilateral polymicrogyria affecting the right hemisphere. Neurology. 2006 Jan 10; 66(1):133-5.
  138. Deuel TA, Liu JS, Corbo JC, Yoo SY, Rorke-Adams LB, Walsh CA. Genetic interactions between doublecortin and doublecortin-like kinase in neuronal migration and axon outgrowth. Neuron. 2006 Jan 5; 49(1):41-53.
  139. Masruha MR, Caboclo LO, Carrete H, Cendes IL, Rodrigues MG, Garzon E, Yacubian EM, Sakamoto AC, Sheen V, Harney M, Neal J, Hill RS, Bodell A, Walsh C, Vilanova LC. Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males. Epilepsia. 2006 Jan; 47(1):211-4.
  140. Sheen VL, Walsh CA. Periventricular heterotopia: new insights into Ehlers-Danlos syndrome. Clin Med Res. 2005 Nov; 3(4):229-33.
  141. Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol. 2005 Nov; 58(5):680-7.
  142. Hill RS, Walsh CA. Molecular insights into human brain evolution. Nature. 2005 Sep 1; 437(7055):64-7.
  143. Shen J, Eyaid W, Mochida GH, Al-Moayyad F, Bodell A, Woods CG, Walsh CA. ASPM mutations identified in patients with primary microcephaly and seizures. J Med Genet. 2005 Sep; 42(9):725-9.
  144. Ferland RJ, Li X, Buhlmann JE, Bu X, Walsh CA, Lim B. 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.
  145. Basel-Vanagaite L, Attia R, Yahav M, Ferland RJ, Anteki L, Walsh CA, Olender T, Straussberg R, Magal N, Taub E, Drasinover V, Alkelai A, Bercovich D, Rechavi G, Simon AJ, Shohat M. 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.
  146. Kouprina N, Pavlicek A, Collins NK, Nakano M, Noskov VN, Ohzeki J, Mochida GH, Risinger JI, Goldsmith P, Gunsior M, Solomon G, Gersch W, Kim JH, Barrett JC, Walsh CA, Jurka J, Masumoto H, Larionov V. The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein. Hum Mol Genet. 2005 Aug 1; 14(15):2155-65.
  147. Soukoulis V, Reddy S, Pooley RD, Feng Y, Walsh CA, Bader DM. 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.
  148. Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, Lee CK, Walsh CA. EMX2-independent familial schizencephaly: clinical and genetic analyses. Am J Med Genet A. 2005 Jun 1; 135(2):166-70.
  149. van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. J Med Genet. 2005 Dec; 42(12):907-12.
  150. Sun T, Patoine C, Abu-Khalil A, Visvader J, Sum E, Cherry TJ, Orkin SH, Geschwind DH, Walsh CA. Early asymmetry of gene transcription in embryonic human left and right cerebral cortex. Science. 2005 Jun 17; 308(5729):1794-8.
  151. Shen J, Walsh CA. 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.
  152. Bond J, Roberts E, Springell K, Lizarraga SB, Lizarraga S, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005 Apr; 37(4):353-5.
  153. Chang BS, Ly J, Appignani B, Bodell A, Apse KA, Ravenscroft RS, Sheen VL, Doherty MJ, Hackney DB, O'Connor M, Galaburda AM, Walsh CA. Reading impairment in the neuronal migration disorder of periventricular nodular heterotopia. Neurology. 2005 Mar 8; 64(5):799-803.
  154. Yeh E, Garneau S, Walsh CT. 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.
  155. Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15; 133A(1):53-7.
  156. Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62.
  157. Imitola J, Raddassi K, Park KI, Mueller FJ, Nieto M, Teng YD, Frenkel D, Li J, Sidman RL, Walsh CA, Snyder EY, Khoury SJ. 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.
  158. Nieto M, Monuki ES, Tang H, Imitola J, Haubst N, Khoury SJ, Cunningham J, Gotz M, Walsh CA. 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 8; 479(2):168-80.
  159. Feng Y, Walsh CA. The many faces of filamin: a versatile molecular scaffold for cell motility and signalling. Nat Cell Biol. 2004 Nov; 6(11):1034-8.
  160. Feng Y, Walsh CA. Mitotic spindle regulation by Nde1 controls cerebral cortical size. Neuron. 2004 Oct 14; 44(2):279-93.
  161. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet. 2004 Sep; 36(9):1008-13.
  162. 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. Etiological heterogeneity of familial periventricular heterotopia and hydrocephalus. Brain Dev. 2004 Aug; 26(5):326-34.
  163. Piao X, Walsh CA. A novel signaling mechanism in brain development. Pediatr Res. 2004 Sep; 56(3):309-10.
  164. Schuurmans C, Armant O, Nieto M, Stenman JM, Britz O, Klenin N, Brown C, Langevin LM, Seibt J, Tang H, Cunningham JM, Dyck R, Walsh C, Campbell K, Polleux F, Guillemot F. Sequential phases of cortical specification involve Neurogenin-dependent and -independent pathways. EMBO J. 2004 Jul 21; 23(14):2892-902.
  165. 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. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet. 2004 Jun; 41(6):e87.
  166. 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. Bilateral generalized polymicrogyria (BGP): a distinct syndrome of cortical malformation. Neurology. 2004 May 25; 62(10):1722-8.
  167. Mochida GH, Walsh CA. Genetic basis of developmental malformations of the cerebral cortex. Arch Neurol. 2004 May; 61(5):637-40.
  168. Gaitanis JN, Walsh CA. Genetics of disorders of cortical development. Neuroimaging Clin N Am. 2004 May; 14(2):219-29, viii.
  169. 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, Déscarie JC, Barkovich AJ, Walsh CA. G protein-coupled receptor-dependent development of human frontal cortex. Science. 2004 Mar 26; 303(5666):2033-6.
  170. 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. Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion. PLoS Biol. 2004 May; 2(5):E126.
  171. Dickson B, Walsh CA. Development. Curr Opin Neurobiol. 2004 Feb; 14(1):1-5.
  172. Chae TH, Kim S, Marz KE, Hanson PI, Walsh CA. 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.
  173. Basel-Vanagaite L, Straussberg R, Ovadia H, Kaplan A, Magal N, Shorer Z, Shalev H, Walsh C, Shohat M. Infantile bilateral striatal necrosis maps to chromosome 19q. Neurology. 2004 Jan 13; 62(1):87-90.
  174. Chang BS, Walsh CA. 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.
  175. Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. 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.
  176. 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. Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet. 2003 Nov; 73(5):1170-7.
  177. Sheen VL, Walsh CA. Developmental genetic malformations of the cerebral cortex. Curr Neurol Neurosci Rep. 2003 Sep; 3(5):433-41.
  178. Chenn A, Walsh CA. Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice. Cereb Cortex. 2003 Jun; 13(6):599-606.
  179. Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. Neurology. 2003 May 27; 60(10):1664-7.
  180. Ferland RJ, Cherry TJ, Preware PO, Morrisey EE, Walsh CA. Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain. J Comp Neurol. 2003 May 26; 460(2):266-79.
  181. Lee A, Maldonado M, Baybis M, Walsh CA, Scheithauer B, Yeung R, Parent J, Weiner HL, Crino PB. Markers of cellular proliferation are expressed in cortical tubers. Ann Neurol. 2003 May; 53(5):668-73.
  182. 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. Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16. Ann Neurol. 2003 May; 53(5):596-606.
  183. Kim MH, Cierpicki T, Derewenda U, Krowarsch D, Feng Y, Devedjiev Y, Dauter Z, Walsh CA, Otlewski J, Bushweller JH, Derewenda ZS. The DCX-domain tandems of doublecortin and doublecortin-like kinase. Nat Struct Biol. 2003 May; 10(5):324-33.
  184. Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA. Autosomal recessive form of periventricular heterotopia. Neurology. 2003 Apr 8; 60(7):1108-12.
  185. Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Periventricular heterotopia associated with chromosome 5p anomalies. Neurology. 2003 Mar 25; 60(6):1033-6.
  186. Teillon SM, Yiu G, Walsh CA. 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.
  187. Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh CA, Neri G. Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait. Am J Med Genet A. 2003 Feb 15; 117A(1):65-71.
  188. Sheen VL, Feng Y, Graham D, Takafuta T, Shapiro SS, Walsh CA. Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact. Hum Mol Genet. 2002 Nov 1; 11(23):2845-54.
  189. Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. 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.
  190. Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG. ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct; 32(2):316-20.
  191. Corbo JC, Deuel TA, Long JM, LaPorte P, Tsai E, Wynshaw-Boris A, Walsh CA. Doublecortin is required in mice for lamination of the hippocampus but not the neocortex. J Neurosci. 2002 Sep 1; 22(17):7548-57.
  192. Kakita A, Hayashi S, Moro F, Guerrini R, Ozawa T, Ono K, Kameyama S, Walsh CA, Takahashi H. 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.
  193. Chenn A, Walsh CA. Regulation of cerebral cortical size by control of cell cycle exit in neural precursors. Science. 2002 Jul 19; 297(5580):365-9.
  194. Olson EC, Walsh CA. Smooth, rough and upside-down neocortical development. Curr Opin Genet Dev. 2002 Jun; 12(3):320-7.
  195. Reid CB, Walsh CA. Evidence of common progenitors and patterns of dispersion in rat striatum and cerebral cortex. J Neurosci. 2002 May 15; 22(10):4002-14.
  196. Chae TH, Allen KM, Davisson MT, Sweet HO, Walsh CA. Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7. Mamm Genome. 2002 May; 13(5):239-44.
  197. Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA. An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21. Am J Hum Genet. 2002 Apr; 70(4):1028-33.
  198. Monuki ES, Porter FD, Walsh CA. Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway. Neuron. 2001 Nov 20; 32(4):591-604.
  199. Monuki ES, Walsh CA. Mechanisms of cerebral cortical patterning in mice and humans. Nat Neurosci. 2001 Nov; 4 Suppl:1199-206.
  200. McCarthy M, Turnbull DH, Walsh CA, Fishell G. Telencephalic neural progenitors appear to be restricted to regional and glial fates before the onset of neurogenesis. J Neurosci. 2001 Sep 1; 21(17):6772-81.
  201. Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA. 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.
  202. Walsh CA. Neuroscience in the post-genome era: an overview. Trends Neurosci. 2001 Jul; 24(7):363-4.
  203. Feng Y, Walsh CA. Protein-protein interactions, cytoskeletal regulation and neuronal migration. Nat Rev Neurosci. 2001 Jun; 2(6):408-16.
  204. Mochida GH, Walsh CA. Molecular genetics of human microcephaly. Curr Opin Neurol. 2001 Apr; 14(2):151-6.
  205. Barkovich AJ, Simon EM, Walsh CA. Callosal agenesis with cyst: a better understanding and new classification. Neurology. 2001 Jan 23; 56(2):220-7.
  206. Ross ME, Walsh CA. Human brain malformations and their lessons for neuronal migration. Annu Rev Neurosci. 2001; 24:1041-70.
  207. Lin PT, Gleeson JG, Corbo JC, Flanagan L, Walsh CA. DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization. J Neurosci. 2000 Dec 15; 20(24):9152-61.
  208. Feng Y, Olson EC, Stukenberg PT, Flanagan LA, Kirschner MW, Walsh CA. LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome. Neuron. 2000 Dec; 28(3):665-79.
  209. Taylor KR, Holzer AK, Bazan JF, Walsh CA, Gleeson JG. Patient mutations in doublecortin define a repeated tubulin-binding domain. J Biol Chem. 2000 Nov 3; 275(44):34442-50.
  210. Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA. Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings. Pediatr Radiol. 2000 Nov; 30(11):748-55.
  211. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat Genet. 2000 Sep; 26(1):93-6.
  212. Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C. Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation. Am J Med Genet. 2000 Aug 14; 93(4):294-8.
  213. Gleeson JG, Walsh CA. Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends Neurosci. 2000 Aug; 23(8):352-9.
  214. Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA. Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes. Am J Hum Genet. 2000 Sep; 67(3):574-81.
  215. Monuki ES, Walsh CA. Proto-mapping the areas of cerebral cortex: transcription factors make the grade. Nat Neurosci. 2000 Jul; 3(7):640-1.
  216. Dulabon L, Olson EC, Taglienti MG, Eisenhuth S, McGrath B, Walsh CA, Kreidberg JA, Anton ES. Reelin binds alpha3beta1 integrin and inhibits neuronal migration. Neuron. 2000 Jul; 27(1):33-44.
  217. Walsh CA, Goffinet AM. Potential mechanisms of mutations that affect neuronal migration in man and mouse. Curr Opin Genet Dev. 2000 Jun; 10(3):270-4.
  218. Vanderhaeghen P, Lu Q, Prakash N, Frisén J, Walsh CA, Frostig RD, Flanagan JG. A mapping label required for normal scale of body representation in the cortex. Nat Neurosci. 2000 Apr; 3(4):358-65.
  219. 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. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann Neurol. 2000 Feb; 47(2):265-9.
  220. Walsh CA. Genetics of neuronal migration in the cerebral cortex. Ment Retard Dev Disabil Res Rev. 2000; 6(1):34-40.
  221. Schwartzkroin PA, Walsh CA. Cortical malformations and epilepsy. Ment Retard Dev Disabil Res Rev. 2000; 6(4):268-80.
  222. Illarioshkin SN, Allen KM, Gleeson JG, Tsuji S, Ikeuchi T, Markova ED, Walsh CA, Ivanova-Smolenskaya IA. Studies of the candidate genes in X-linked congenital cerebellar hypoplasia. J Neurol. 1999 Dec; 246(12):1177-80.
  223. Chenn A, Walsh CA. Perspectives: neurobiology. Cranking it up a notch. Science. 1999 Oct 22; 286(5440):689-90.
  224. Ware ML, Tavazoie SF, Reid CB, Walsh CA. Coexistence of widespread clones and large radial clones in early embryonic ferret cortex. Cereb Cortex. 1999 Sep; 9(6):636-45.
  225. Allen KM, Walsh CA. Genes that regulate neuronal migration in the cerebral cortex. Epilepsy Res. 1999 Sep; 36(2-3):143-54.
  226. Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ. Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly. Neurology. 1999 Jul 22; 53(2):270-7.
  227. Fox JW, Walsh CA. Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex. Am J Hum Genet. 1999 Jul; 65(1):19-24.
  228. Gleeson JG, Lin PT, Flanagan LA, Walsh CA. Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons. Neuron. 1999 Jun; 23(2):257-71.
  229. Walsh CA. Genetic malformations of the human cerebral cortex. Neuron. 1999 May; 23(1):19-29.
  230. Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al. Characterization of mutations in the gene doublecortin in patients with double cortex syndrome. Ann Neurol. 1999 Feb; 45(2):146-53.
  231. Reid CB, Liang I, Walsh CA. Clonal mixing, clonal restriction, and specification of cell types in the developing rat olfactory bulb. J Comp Neurol. 1999 Jan 5; 403(1):106-18.
  232. 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. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron. 1998 Dec; 21(6):1315-25.
  233. Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME. LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet. 1998 Dec; 7(13):2029-37.
  234. Allen KM, Gleeson JG, Shoup SM, Walsh CA. A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3. Genomics. 1998 Sep 1; 52(2):214-8.
  235. Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet. 1998 Sep; 20(1):25-30.
  236. Walsh CA. LISsen up! Nat Genet. 1998 Aug; 19(4):307-8.
  237. Berg MJ, Schifitto G, Powers JM, Martinez-Capolino C, Fong CT, Myers GJ, Epstein LG, Walsh CA. X-linked female band heterotopia-male lissencephaly syndrome. Neurology. 1998 Apr; 50(4):1143-6.
  238. Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA. Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein. Cell. 1998 Jan 9; 92(1):63-72.
  239. González JL, Russo CJ, Goldowitz D, Sweet HO, Davisson MT, Walsh CA. Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype. J Neurosci. 1997 Dec 1; 17(23):9204-11.
  240. Walsh CA, Bowler WB, Bilbe G, Fraser WD, Gallagher JA. 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 9; 239(1):155-9.
  241. Ware ML, Fox JW, González JL, Davis NM, Lambert de Rouvroit C, Russo CJ, Chua SC, Goffinet AM, Walsh CA. Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse. Neuron. 1997 Aug; 19(2):239-49.
  242. Reid CB, Tavazoie SF, Walsh CA. Clonal dispersion and evidence for asymmetric cell division in ferret cortex. Development. 1997 Jun; 124(12):2441-50.
  243. 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, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA. 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.
  244. 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. X-linked malformations of neuronal migration. Neurology. 1996 Aug; 47(2):331-9.
  245. Allen KM, Walsh C. Shaking down new epilepsy genes. Nat Med. 1996 May; 2(5):516-8.
  246. Walsh CA. Neural development: identical twins separated at birth? Curr Biol. 1996 Jan 1; 6(1):26-8.
  247. 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. Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development. Neuron. 1996 Jan; 16(1):77-87.
  248. Reid CB, Walsh CA. Early development of the cerebral cortex. Prog Brain Res. 1996; 108:17-30.
  249. Reid CB, Liang I, Walsh C. Systematic widespread clonal organization in cerebral cortex. Neuron. 1995 Aug; 15(2):299-310.
  250. Walsh CA, Birch MA, Fraser WD, Lawton R, Dorgan J, Walsh S, Sansom D, Beresford JN, Gallagher JA. 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.
  251. Walsh C, Reid C. Cell lineage and patterns of migration in the developing cortex. Ciba Found Symp. 1995; 193:21-40; discussion 59-70.
  252. Cepko C, Ryder EF, Austin CP, Walsh C, Fekete DM. Lineage analysis using retrovirus vectors. Methods Enzymol. 1995; 254:387-419.
  253. Walsh C, Cepko CL. Clonal dispersion in proliferative layers of developing cerebral cortex. Nature. 1993 Apr 15; 362(6421):632-5.
  254. Walsh C. Cell lineage and regional specification in the mammalian neocortex. Perspect Dev Neurobiol. 1993; 1(2):75-80.
  255. Cepko CL, Ryder EF, Austin CP, Walsh C, Fekete DM. Lineage analysis using retrovirus vectors. Methods Enzymol. 1993; 225:933-60.
  256. Walsh C, Cepko CL. Widespread dispersion of neuronal clones across functional regions of the cerebral cortex. Science. 1992 Jan 24; 255(5043):434-40.
  257. Snyder EY, Deitcher DL, Walsh C, Arnold-Aldea S, Hartwieg EA, Cepko CL. Multipotent neural cell lines can engraft and participate in development of mouse cerebellum. Cell. 1992 Jan 10; 68(1):33-51.
  258. Walsh C, Cepko CL. Cell lineage and cell migration in the developing cerebral cortex. Experientia. 1990 Sep 15; 46(9):940-7.
  259. Cepko CL, Austin CP, Walsh C, Ryder EF, Halliday A, Fields-Berry S. Studies of cortical development using retrovirus vectors. Cold Spring Harb Symp Quant Biol. 1990; 55:265-78.
  260. Walsh C, Cepko CL. Clonally related cortical cells show several migration patterns. Science. 1988 Sep 9; 241(4871):1342-5.
  261. Guillery RW, Walsh C. 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 8; 265(2):218-23.
  262. Guillery RW, Walsh C. Changing glial organization relates to changing fiber order in the developing optic nerve of ferrets. J Comp Neurol. 1987 Nov 8; 265(2):203-17.
  263. Walsh C. Age-related fiber order in the ferret's optic nerve and optic chiasm. J Neurosci. 1986 Jun; 6(6):1635-42.
  264. Walsh C, Guillery RW. Age-related fiber order in the optic tract of the ferret. J Neurosci. 1985 Nov; 5(11):3061-9.
  265. Walsh C, Polley EH. The topography of ganglion cell production in the cat's retina. J Neurosci. 1985 Mar; 5(3):741-50.
  266. Polley EH, Walsh C. A technique for flat embedding and en face sectioning of the mammalian retina for autoradiography. J Neurosci Methods. 1984 Nov; 12(1):57-64.
  267. Walsh C, Polley EH, Hickey TL, Guillery RW. Generation of cat retinal ganglion cells in relation to central pathways. Nature. 1983 Apr 14; 302(5909):611-4.
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