EDUCATION

Undergraduate Degree

  • Johns Hopkins University , 1974 , Baltimore , MD

Graduate Degree

PhD, Neuroanatomy
  • Johns Hopkins University , 1982 , Baltimore , MD

Medical School

  • Johns Hopkins University School of Medicine , 1982 , Baltimore , MD

Internship

Pediatrics
  • Massachusetts General Hospital , 1983 , Boston , MA

Residency

Pediatric Neurology
  • Massachusetts General Hospital , 1987 , Boston , MA

Fellowship

  • National Hospital , 1988 , London , England

Fellowship

  • Brigham & Women's Hospital/Boston Children's Hospital , 1991 , Boston , MA

CERTIFICATIONS

  • American Board of Pathology, Anatomic Neuropathology
  • American Board of Psychiatry and Neurology, Child and Adolescent Neurology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder. Am J Med Genet A. 2021 Dec 02. View abstract
  2. Spatiotemporal changes in diffusivity and anisotropy in fetal brain tractography. Hum Brain Mapp. 2021 Dec 01; 42(17):5771-5784. View abstract
  3. Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. Am J Med Genet A. 2021 05; 185(5):1614-1618. View abstract
  4. Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant. Histopathology. 2021 Jan; 78(2):265-275. View abstract
  5. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279. View abstract
  6. A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. Eur J Med Genet. 2020 Apr; 63(4):103826. View abstract
  7. Increasing value of autopsies in patients with brain tumors in the molecular era. J Neurooncol. 2019 Nov; 145(2):349-355. View abstract
  8. White matter mean diffusivity correlates with myelination in tuberous sclerosis complex. Ann Clin Transl Neurol. 2019 07; 6(7):1178-1190. View abstract
  9. Perioperatively Inhaled Hydrogen Gas Diminishes Neurologic Injury Following Experimental Circulatory Arrest in Swine. JACC Basic Transl Sci. 2019 Apr; 4(2):176-187. View abstract
  10. Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Mol Genet Genomic Med. 2019 03; 7(3):e552. View abstract
  11. Histopathologic Correlates of Familial Hemophagocytic Lymphohistiocytosis Isolated to the Central Nervous System. J Neuropathol Exp Neurol. 2018 12 01; 77(12):1079-1084. View abstract
  12. The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. Cell Rep. 2018 07 24; 24(4):973-986.e8. View abstract
  13. PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours. Histopathology. 2018 Sep; 73(3):483-491. View abstract
  14. Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. Ann Neurol. 2018 06; 83(6):1133-1146. View abstract
  15. Mice Expressing Myc in Neural Precursors Develop Choroid Plexus and Ciliary Body Tumors. Am J Pathol. 2018 06; 188(6):1334-1344. View abstract
  16. Multiparametric Analysis of Permeability and ADC Histogram Metrics for Classification of Pediatric Brain Tumors by Tumor Grade. AJNR Am J Neuroradiol. 2018 Mar; 39(3):552-557. View abstract
  17. A novel GIT2-BRAF fusion in pilocytic astrocytoma. Diagn Pathol. 2017 Nov 15; 12(1):82. View abstract
  18. Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. Neuro Oncol. 2017 Jul 01; 19(7):986-996. View abstract
  19. GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. JIMD Rep. 2018; 38:61-65. View abstract
  20. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. View abstract
  21. 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
  22. Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. Sci Rep. 2016 05 20; 6:26202. View abstract
  23. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786. View abstract
  24. Sonic Hedgehog promotes proliferation of Notch-dependent monociliated choroid plexus tumour cells. Nat Cell Biol. 2016 Apr; 18(4):418-30. View abstract
  25. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar; 139(Pt 3):765-81. View abstract
  26. Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. Neurology. 2015 Nov 03; 85(18):1536-45. View abstract
  27. Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. J Exp Med. 2015 Jun 01; 212(6):939-51. View abstract
  28. Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production. J Neurosci. 2015 Mar 25; 35(12):4903-16. View abstract
  29. Rasmussen's encephalitis presenting as focal cortical dysplasia. Epilepsy Behav Case Rep. 2014; 2:86-9. View abstract
  30. Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. Nat Genet. 2014 Feb; 46(2):161-5. View abstract
  31. The lost art of localization: Franc Ingraham's legacy in pediatric neurosurgery. J Neurosurg Pediatr. 2013 Dec; 12(6):642-54. View abstract
  32. Intrasacral meningocele in the pediatric population. J Neurosurg Pediatr. 2013 Jun; 11(6):615-22. View abstract
  33. OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells. Cancer Res. 2012 Nov 15; 72(22):5988-6001. View abstract
  34. Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 2012 May; 13(2):115-24. View abstract
  35. Primary calcified rhabdoid meningioma of the cranio-cervical junction: A case report and review of literature. J Craniovertebr Junction Spine. 2012 Jan; 3(1):32-7. View abstract
  36. Rapid reversal of uremic neuropathy following renal transplantation in an adolescent. Pediatr Transplant. 2012 Nov; 16(7):E296-300. View abstract
  37. Extradural en-plaque spinal meningioma with intraneural invasion. World Neurosurg. 2012 Jan; 77(1):202.e5-13. View abstract
  38. Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. BMC Med Genet. 2011 Jun 28; 12:87. View abstract
  39. Pediatric sciatic neuropathy associated with neoplasms. Muscle Nerve. 2011 Feb; 43(2):183-8. View abstract
  40. Differential neuronal vulnerability varies according to specific cardiopulmonary bypass insult in a porcine survival model. J Thorac Cardiovasc Surg. 2010 Dec; 140(6):1408-15.e1-3. View abstract
  41. Hypothermic circulatory arrest increases permeability of the blood brain barrier in watershed areas. Ann Thorac Surg. 2010 Dec; 90(6):2001-8. View abstract
  42. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Hum Mol Genet. 2010 Oct 15; 19(20):3995-4006. View abstract
  43. Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene. Development. 2010 Aug; 137(16):2643-52. View abstract
  44. Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve. 2010 Jun; 41(6):746-50. View abstract
  45. Optimal dose of aprotinin for neuroprotection and renal function in a piglet survival model. J Thorac Cardiovasc Surg. 2009 Jun; 137(6):1521-9; discussion 1529. View abstract
  46. Aprotinin protects the cerebral microcirculation during cardiopulmonary bypass. Perfusion. 2009 Mar; 24(2):99-105. View abstract
  47. A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. J Child Neurol. 2008 Mar; 23(3):349-52. View abstract
  48. Dystrophin,:the dystrophin associated protein complex, and muscular dystrophy. New Encyclopedia of Neuroscience, ed. Squire L., et..al. 2008. View abstract
  49. Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A. 2007 Oct 23; 104(43):17016-21. View abstract
  50. Extracranial metastases of glioblastoma in a child: case report and review of the literature. J Pediatr Hematol Oncol. 2007 Mar; 29(3):190-4. View abstract
  51. The neuropathology of Vici syndrome. J Neuropathol Exp Neurol. 2007; 60:528. View abstract
  52. Aprotinin improves cerebral protection: evidence from a survival porcine model. J Thorac Cardiovasc Surg. 2006 Oct; 132(4):948-53. View abstract
  53. A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Neurology. 2006 Jul 11; 67(1):167-9. View abstract
  54. Variations in gene expression among different types of human skeletal muscle. Muscle Nerve. 2005 Oct; 32(4):483-91. View abstract
  55. Specific bypass conditions determine safe minimum flow rate. Ann Thorac Surg. 2005 Oct; 80(4):1460-7. View abstract
  56. Tissue oxygenation index is a useful monitor of histologic and neurologic outcome after cardiopulmonary bypass in piglets. J Thorac Cardiovasc Surg. 2005 Aug; 130(2):384-92. View abstract
  57. IKKbeta/NF-kappaB activation causes severe muscle wasting in mice. Cell. 2004 Oct 15; 119(2):285-98. View abstract
  58. Interaction of temperature with hematocrit level and pH determines safe duration of hypothermic circulatory arrest. J Thorac Cardiovasc Surg. 2004 Aug; 128(2):220-32. View abstract
  59. Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency. Hum Mol Genet. 2004 Sep 15; 13(18):1999-2010. View abstract
  60. Higher bypass temperature correlates with increased white cell activation in the cerebral microcirculation. J Thorac Cardiovasc Surg. 2004 Jun; 127(6):1781-8. View abstract
  61. Skeletal muscle diseases. In: Gray F, DeGirolami U, Poirier J (eds.) Escourolle and Poirier Manual of BasicNeuropathology. 2004; 281-314. View abstract
  62. Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. Ann Neurol. 2003 Dec; 54(6):790-5. View abstract
  63. Cerebral amyloid angiopathy associated with primary angiitis of the central nervous system: report of 2 cases and review of the literature. Arthritis Rheum. 2003 Jun 15; 49(3):421-7. View abstract
  64. Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. Proc Natl Acad Sci U S A. 2003 Apr 15; 100(8):4666-71. View abstract
  65. Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. J Clin Invest. 2002 Sep; 110(6):807-14. View abstract
  66. Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. Neuromuscul Disord. 2002 Mar; 12(3):273-80. View abstract
  67. Combination of alpha-stat strategy and hemodilution exacerbates neurologic injury in a survival piglet model with deep hypothermic circulatory arrest. Ann Thorac Surg. 2002 Jan; 73(1):180-9; discussion 189-90. View abstract
  68. Prediction of safe duration of hypothermic circulatory arrest by near-infrared spectroscopy. J Thorac Cardiovasc Surg. 2001 Aug; 122(2):339-50. View abstract
  69. Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin. Proc Natl Acad Sci U S A. 2001 May 22; 98(11):6156-61. View abstract
  70. Granulomatous angiitis with ƒÒ-amyloid angiopathy as a mass lesion. J Neuropathol Exp Neurol. 2001; 60:528. View abstract
  71. Commentary. J Thorac Cardiovasc Surg. 2001; 121:968-970. View abstract
  72. The molecular neuropathology of the muscular dystrophies: a review and update. J Neuropathol Exp Neurol. 2000 Dec; 59(12):1019-30. View abstract
  73. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol. 2000 Jan 10; 148(1):115-26. View abstract
  74. Gangliocytoma masquerading as a prolactinoma. Case report. J Neurosurg. 1999 Sep; 91(3):490-5. View abstract
  75. A novel sialyl Lewis X analog attenuates cerebral injury after deep hypothermic circulatory arrest. J Thorac Cardiovasc Surg. 1999 Jun; 117(6):1204-11. View abstract
  76. Oxygenation strategy and neurologic damage after deep hypothermic circulatory arrest. II. hypoxic versus free radical injury. J Thorac Cardiovasc Surg. 1999 Jun; 117(6):1172-9. View abstract
  77. Molecular organization of sarcoglycan complex in mouse myotubes in culture. J Cell Biol. 1998 Dec 28; 143(7):2033-44. View abstract
  78. Dystrophin and Dp140 in the adult rodent kidney. Lab Invest. 1998 Dec; 78(12):1543-51. View abstract
  79. Postischemic hyperthermia exacerbates neurologic injury after deep hypothermic circulatory arrest. J Thorac Cardiovasc Surg. 1998 Nov; 116(5):780-92. View abstract
  80. Caveolin-3 in muscular dystrophy. Hum Mol Genet. 1998 May; 7(5):871-7. View abstract
  81. Effects of oncotic pressure and hematocrit on outcome after hypothermic circulatory arrest. Ann Thorac Surg. 1998 Jan; 65(1):155-64. View abstract
  82. Immunocytochemistry in Limb-Girdle Dystrophy with identified sarcoglycan mutations. J Neuropathol Exp Neurol. 1998; 57:491. View abstract
  83. Dp140: alternatively spliced isoforms in brain and kidney. Genomics. 1997 Oct 01; 45(1):132-9. View abstract
  84. Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin. Proc Natl Acad Sci U S A. 1997 Mar 18; 94(6):2398-403. View abstract
  85. Higher hematocrit improves cerebral outcome after deep hypothermic circulatory arrest. J Thorac Cardiovasc Surg. 1996 Dec; 112(6):1610-20; discussion 1620-1. View abstract
  86. Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet. 1996 Nov; 5(11):1841-7. View abstract
  87. Intermittent whole-body perfusion with "somatoplegia' versus blood perfusate to extend duration of circulatory arrest. Circulation. 1996 Nov 01; 94(9 Suppl):II56-62. View abstract
  88. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet. 1996 Nov; 59(5):1040-7. View abstract
  89. Dystrophin in the nervous system. Brain Pathol. 1996 Jan; 6(1):63-77. View abstract
  90. The Neuropathology of a swine bypass model. J Neuropathol Exp Neurol. 1996; 55:666. View abstract
  91. University of Wisconsin cerebroplegia in a piglet survival model of circulatory arrest. Ann Thorac Surg. 1995 Dec; 60(6 Suppl):S494-500. View abstract
  92. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 1995 Mar; 4(3):329-35. View abstract
  93. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet. 1993 May; 4(1):77-81. View abstract
  94. The distribution of dystrophin in the murine central nervous system: an immunocytochemical study. Neuroscience. 1993 May; 54(1):167-87. View abstract
  95. The Zellweger-Adrenoleukodystrophy Spectrum: An Intermediate Case. J Neuropathol Exp Neurol. 1993; 52:298. View abstract
  96. An Immunocytochemical study of 427kD dystrophin in the mouse CNS. J.Neurochem. 1993; Suppl 61:S234. View abstract
  97. The distribution of dystrophin in the murine CNS: an immunocytochemical study. Neuropath Appl Neurol. 1993; 19:193-4. View abstract
  98. Dystrophin and Duchenne Muscular Dystrophy. In: Adelman G, Smith B. editors. Encyclopedia of Neuroscience. 1993; 594-9. View abstract
  99. Dystrophin and Duchenne Muscular Dystrophy. In: Adelman G, Smith B. editors. Encyclopedia of Neuroscience. 1993; 1999. View abstract
  100. Dystrophin and Duchenne Muscular Dystrophy. In: Adelman G, Smith B. editors. Neuroscience Year: Supplement. 1993; 45-8. View abstract
  101. Neuroenteric cyst of the optic nerve: case report with immunohistochemical study. J Neurol Neurosurg Psychiatry. 1992 Dec; 55(12):1197-9. View abstract
  102. Cerebral neoplastic angioendotheleosis complicated by hypercalcaemia. Postgrad Med J. 1991 Jun; 67(788):571-3. View abstract
  103. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature. 1990 Dec 20-27; 348(6303):725-8. View abstract
  104. An ependymoma involving the pituitary fossa. J Neurol Neurosurg Psychiatry. 1989 Dec; 52(12):1443-4. View abstract
  105. Progressive medullary failure associated with neurofibrillary degeneration. J Neurol Neurosurg Psychiatry. 1989 May; 52(5):643-7. View abstract
  106. Neuropathology of infants dying after extracorporeal membrane oxygenation (ECMO). J Neuropathol Exp Neurol. 1989; 48:307. View abstract
  107. Antenatal sonographic diagnosis of cebocephaly. J Ultrasound Med. 1988 Jul; 7(7):395-8. View abstract
  108. Lhermitte-Duclos disease (dysplastic gangliocytoma): a case report with CT and MRI. Acta Neurochir (Wien). 1988; 93(3-4):149-53. View abstract
  109. Serotoninergic differentiation of quail neural crest cells in vitro. Dev Biol. 1983 Oct; 99(2):352-9. View abstract
  110. Immunohistochemical study of the development of serotonergic neurons in the rat CNS. Brain Res Bull. 1982 Jul-Dec; 9(1-6):559-604. View abstract
  111. Noradrenergic and serotonergic fibers innervate complementary layers in monkey primary visual cortex: an immunohistochemical study. Proc Natl Acad Sci U S A. 1982 Apr; 79(7):2401-5. View abstract
  112. An immunohistochemical study of serotonin neuron development in the rat: ascending pathways and terminal fields. Brain Res Bull. 1982 Apr; 8(4):389-430. View abstract
  113. The structure of cerebral cortex in the rat following prenatal administration of 6-hydroxydopamine. Brain Res. 1982 Jan; 255(1):81-108. View abstract
  114. Monoamine systems in the cerebral cortex. In: Palay S, Chan-Palay V. editors. Cytochemical Methods in Neuroanatomy. 1982; 255-277. View abstract
  115. The distribution and development of the monoaminergic afferents to immature rodent neocortex[dissertation]. 1981. View abstract
  116. The serotonin innervation of the cerebral cortex in the rat--an immunohistochemical analysis. Neuroscience. 1980; 5(2):207-27. View abstract
  117. Complmentarity of dopaminergic and noradrenergic innervation in anterior cingulate cortex of the rat. Brain Res. 1979 Mar 23; 164:328-33. View abstract
  118. Characterization of the monoaminergic innervation of immature rat neocortex: a histofluorescence analysis. J Comp Neurol. 1978 Oct 01; 181(3):663-79. View abstract
  119. The organization of the catecholamine innervation of somatosensory cortex: the barrel field of the mouse. Brain Res. 1978 Sep 29; 153(3):577-84. View abstract