Information

Related Research Units

Intellectual and Developmental Disabilities Research Center Research
The Manton Center for Orphan Disease Research
Yu Laboratory Research

Research Overview

  1. Autism and neurodevelopmental genetics: The Yu lab conducts genome-wide and world-wide searches to find the genes that are responsible for autism spectrum disorders (ASDs) and other neurodevelopmental conditions. We have had a particular emphasis on biallelic/recessive mutations (i.e., impacting both copies of a gene) in ASD, and have uncovered a striking enrichment of biallelic gene disruptions in affected individuals, especially in girls. 
  2. Rare diseases and translational genomic medicine: We are passionate about finding ways to bring genomic tools to the bedside to help care for patients with genetic disorders. These projects range from the deployment of genome sequencing in the neonatal intensive care unit to the design and delivery of genome-guided therapeutics for sick children.

Research Background

Dr. Yu completed his undergraduate degree in biochemistry and molecular biology at Harvard College, his M.D. and Ph.D. degree (in Neuroscience) from the University of California at San Francisco, clinical neurology training at Massachusetts General Hospital and Brigham and Women’s Hospital, and a fellowship in neurodevelopmental genetics at MGH and Boston Children’s Hospital. He joined the faculty in the Division of Genetics and Genomics as Instructor in 2010 and Assistant Professor in 2013.

Selected Publications

  1. Jamuar SS, Schmitz-Abe K, D'Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Feb 27; PubMed PMID: 28250456.

  2. Berg JS, Agrawal PB, Bailey DB Jr, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb;139(2)PubMed PMID: 28096516; PubMed Central PMCID: PMC5260149.

  3. Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA. Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 2016 Nov 23;92(4):813-828. PubMed PMID: 27974163; PubMed Central PMCID: PMC5199216.

  4. 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. PubMed PMID: 25140959; PubMed Central PMCID: PMC4274952.

  5. 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. PubMed PMID: 25363760; PubMed Central PMCID: PMC4402723.

  6. Yu TW, Berry-Kravis E. Autism and fragile X syndrome. Semin Neurol. 2014 Jul;34(3):258-65. PubMed PMID: 25192504.

  7. 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. PubMed PMID: 23352163; PubMed Central PMCID: PMC3694430.

  8. 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. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012;8(4):e1002635.

  9. 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):1015-2

  10. Chang C, Yu TW, Bargmann CI, Tessier-Lavigne M. Inhibition of netrin-mediated axon attraction by a receptor protein tyrosine phosphatase. Science. 2004 Jul 2;305(5680):103-6. PubMed PMID: 15232111.

  11. Gitai Z, Yu TW, Lundquist EA, Tessier-Lavigne M, Bargmann CI. The netrin receptor UNC-40/DCC stimulates axon attraction and outgrowth through enabled and, in parallel, Rac and UNC-115/AbLIM. Neuron. 2003 Jan 9;37(1):53-65. PubMed PMID:  12526772.

  12. Yu TW, Hao JC, Lim W, Tessier-Lavigne M, Bargmann CI. Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function. Nat Neurosci. 2002 Nov;5(11):1147-54. PubMed PMID: 12379860.

  13. Hao JC, Yu TW, Fujisawa K, Culotti JG, Gengyo-Ando K, Mitani S, Moulder G, Barstead R, Tessier-Lavigne M, Bargmann CI. C. elegans slit acts in midline, dorsal-ventral, and anterior-posterior guidance via the SAX-3/Robo receptor. Neuron. 2001 Oct 11;32(1):25-38. PubMed PMID: 11604136.

  14. Parent JM, Yu TW, Leibowitz RT, Geschwind DH, Sloviter RS, Lowenstein DH. Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus. J Neurosci. 1997 May 15;17(10):3727-38. PubMed PMID: 9133393.

Education

Undergraduate School

Harvard College
1994 Boston MA

Graduate School

University of California, San Francisco
San Francisco CA

Medical School

University of California, San Francisco
San Francisco CA

Internship

Massachusetts General Hospital
Boston MA

Residency

Massachusetts General Hospital & Brigham and Women's Hospital
Boston MA

Fellowship

Massachusetts General Hospital & Boston Children's Hospital
Boston MA

Publications

  1. Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review. Pediatr Res. 2025 Jan 16. View Abstract
  2. A framework for N-of-1 trials of individualized gene-targeted therapies for genetic diseases. Nat Commun. 2024 Nov 12; 15(1):9802. View Abstract
  3. The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap. Nat Rev Drug Discov. 2025 01; 24(1):40-56. View Abstract
  4. Gene therapy for targeting a prenatally enriched potassium channel associated with severe childhood epilepsy and premature death. bioRxiv. 2024 Oct 24. View Abstract
  5. Epigenomic and phenotypic characterization of DEGCAGS syndrome. Eur J Hum Genet. 2024 Dec; 32(12):1574-1582. View Abstract
  6. N-of-1 Studies in an Era of Precision Medicine. JAMA. 2024 Sep 25. View Abstract
  7. RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront. Genet Med. 2024 Dec; 26(12):101266. View Abstract
  8. Deletions in the CDKL5 5' untranslated region lead to CDKL5 deficiency disorder. Am J Med Genet A. 2025 Jan; 197(1):e63843. View Abstract
  9. Response to Horta et al. Genet Med. 2024 Nov; 26(11):101215. View Abstract
  10. How to pay for individualized genetic medicines. Nat Med. 2024 Jul; 30(7):1816-1818. View Abstract
  11. "It's hard to wait": Provider perspectives on current genomic care in safety-net NICUs. Genet Med. 2024 Sep; 26(9):101177. View Abstract
  12. Implementation of rapid genomic sequencing in safety-net neonatal intensive care units: protocol for the VIrtual GenOme CenteR (VIGOR) proof-of-concept study. BMJ Open. 2024 02 06; 14(2):e080529. View Abstract
  13. ATM-deficiency-induced microglial activation promotes neurodegeneration in ataxia-telangiectasia. Cell Rep. 2024 01 23; 43(1):113622. View Abstract
  14. Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia. Am J Hum Genet. 2023 11 02; 110(11):1976-1982. View Abstract
  15. A Multistakeholder Perspective on Advancing Individualized Therapeutics. Clin Pharmacol Ther. 2023 11; 114(5):994-1001. View Abstract
  16. A framework for individualized splice-switching oligonucleotide therapy. Nature. 2023 Jul; 619(7971):828-836. View Abstract
  17. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. Am J Hum Genet. 2023 07 06; 110(7):1034-1045. View Abstract
  18. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023 06; 25(6):100831. View Abstract
  19. Moving away from one disease at a time: Screening, trial design, and regulatory implications of novel platform technologies. Am J Med Genet C Semin Med Genet. 2023 03; 193(1):30-43. View Abstract
  20. Are we prepared to deliver gene-targeted therapies for rare diseases? Am J Med Genet C Semin Med Genet. 2023 03; 193(1):7-12. View Abstract
  21. Data sharing to advance gene-targeted therapies in rare diseases. Am J Med Genet C Semin Med Genet. 2023 03; 193(1):87-98. View Abstract
  22. Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides. Nucleic Acid Ther. 2023 01; 33(1):17-25. View Abstract
  23. Whole-genome sequencing holds the key to the success of gene-targeted therapies. Am J Med Genet C Semin Med Genet. 2023 03; 193(1):19-29. View Abstract
  24. CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry. iScience. 2022 Oct 21; 25(10):105082. View Abstract
  25. Integrating rapid exome sequencing into NICU clinical care after a pilot research study. NPJ Genom Med. 2022 Sep 05; 7(1):51. View Abstract
  26. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2. Genet Med. 2022 11; 24(11):2240-2248. View Abstract
  27. Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models. Mol Ther Nucleic Acids. 2022 Sep 13; 29:189-203. View Abstract
  28. Oligonucleotides and N?=?1 Therapeutics: From the Patient Perspective to Chemistry, Manufacturing, and Control. Nucleic Acid Ther. 2022 04; 32(2):81-82. View Abstract
  29. Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders. Front Neurol. 2022; 13:664710. View Abstract
  30. A solid start for gene therapy in Tay-Sachs disease. Nat Med. 2022 02; 28(2):236-237. View Abstract
  31. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809. View Abstract
  32. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 11; 23(11):2029-2037. View Abstract
  33. Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project. Genet Med. 2021 07; 23(7):1372-1375. View Abstract
  34. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. Genet Med. 2021 06; 23(6):1028-1040. View Abstract
  35. Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder. Sci Rep. 2020 08 20; 10(1):14045. View Abstract
  36. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020 Jul 06; 5(1):29. View Abstract
  37. Children's rare disease cohorts: an integrative research and clinical genomics initiative. NPJ Genom Med. 2020; 5:29. View Abstract
  38. A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. Am J Med Genet A. 2020 04; 182(4):780-784. View Abstract
  39. Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield. Genet Med. 2020 04; 22(4):736-744. View Abstract
  40. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. View Abstract
  41. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674. View Abstract
  42. Infant mortality: the contribution of genetic disorders. J Perinatol. 2019 12; 39(12):1611-1619. View Abstract
  43. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424. View Abstract
  44. Recessive gene disruptions in autism spectrum disorder. Nat Genet. 2019 07; 51(7):1092-1098. View Abstract
  45. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Abstract
  46. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. Am J Hum Genet. 2019 01 03; 104(1):76-93. View Abstract
  47. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. View Abstract
  48. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 08; 4(4). View Abstract
  49. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. View Abstract
  50. DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome. Hum Mutat. 2018 01; 39(1):23-39. View Abstract
  51. Rare variant association test in family-based sequencing studies. Brief Bioinform. 2017 Nov 01; 18(6):954-961. View Abstract
  52. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. Genome Res. 2017 08; 27(8):1323-1335. View Abstract
  53. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 08; 32(9):840-845. View Abstract
  54. Biallelic mutations in human DCC cause developmental split-brain syndrome. Nat Genet. 2017 Apr; 49(4):606-612. View Abstract
  55. From Sequence Data to Returnable Results: Ethical Issues in Variant Calling and Interpretation. Genet Test Mol Biomarkers. 2017 Mar; 21(3):178-183. View Abstract
  56. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). View Abstract
  57. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. View Abstract
  58. Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate. Neuron. 2016 Nov 23; 92(4):813-828. View Abstract
  59. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252. View Abstract
  60. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008. View Abstract
  61. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. View Abstract
  62. Orthogonal NGS for High Throughput Clinical Diagnostics. Sci Rep. 2016 Apr 19; 6:24650. View Abstract
  63. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A. 2016 May; 170A(5):1165-73. View Abstract
  64. Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci. Neuron. 2015 Sep 23; 87(6):1215-1233. View Abstract
  65. Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication. Elife. 2015 Aug 22; 4. View Abstract
  66. Katanin p80 regulates human cortical development by limiting centriole and cilia number. Neuron. 2014 Dec 17; 84(6):1240-57. View Abstract
  67. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014 Nov 13; 515(7526):209-15. View Abstract
  68. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Biol Psychiatry. 2015 May 01; 77(9):775-84. View Abstract
  69. Autism and fragile X syndrome. Semin Neurol. 2014 Jul; 34(3):258-65. View Abstract
  70. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View Abstract
  71. POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 01; 23(21):5781-92. View Abstract
  72. Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2. Autism Res. 2014 Jun; 7(3):355-62. View Abstract
  73. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25; 15(3):R53. View Abstract
  74. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014 Apr 03; 94(4):547-58. View Abstract
  75. METTL23, a transcriptional partner of GABPA, is essential for human cognition. Hum Mol Genet. 2014 Jul 01; 23(13):3456-66. View Abstract
  76. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 05; 93(6):1108-17. View Abstract
  77. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec; 56(12):678-82. View Abstract
  78. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013 Dec; 23(12):975-80. View Abstract
  79. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet. 2013 Sep; 45(9):984-94. View Abstract
  80. Cardiac expression of human type 2 iodothyronine deiodinase increases glucose metabolism and protects against doxorubicin-induced cardiac dysfunction in male mice. Endocrinology. 2013 Oct; 154(10):3937-46. View Abstract
  81. Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry. 2013 Oct 15; 74(8):576-84. View Abstract
  82. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77(2):259-73. View Abstract
  83. Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism. 2012 Oct 15; 3(1):9. View Abstract
  84. Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. Am J Hum Genet. 2012 Sep 07; 91(3):541-7. View Abstract
  85. Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. PLoS Genet. 2012; 8(4):e1002635. View Abstract
  86. FLNA genomic rearrangements cause periventricular nodular heterotopia. Neurology. 2012 Jan 24; 78(4):269-78. View Abstract
  87. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 2011 Jun 09; 70(5):863-85. View Abstract
  88. Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet. 2010 Nov; 42(11):1015-20. View Abstract
  89. Education research: A program perspective on learning how to teach. Neurology. 2008 May 06; 70(19):e75-7. View Abstract
  90. Thrombotic intracranial aneurysms: classification scheme and management strategies in 68 patients. Neurosurgery. 2005 Mar; 56(3):441-54; discussion 441-54. View Abstract
  91. Inhibition of netrin-mediated axon attraction by a receptor protein tyrosine phosphatase. Science. 2004 Jul 02; 305(5680):103-6. View Abstract
  92. The netrin receptor UNC-40/DCC stimulates axon attraction and outgrowth through enabled and, in parallel, Rac and UNC-115/AbLIM. Neuron. 2003 Jan 09; 37(1):53-65. View Abstract
  93. Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function. Nat Neurosci. 2002 Nov; 5(11):1147-54. View Abstract
  94. Dynamic regulation of axon guidance. Nat Neurosci. 2001 Nov; 4 Suppl:1169-76. View Abstract
  95. C. elegans slit acts in midline, dorsal-ventral, and anterior-posterior guidance via the SAX-3/Robo receptor. Neuron. 2001 Oct 11; 32(1):25-38. View Abstract
  96. Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus. J Neurosci. 1997 May 15; 17(10):3727-38. View Abstract

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