Publications

Peer-Reviewed Manuscripts

  1. Akins RD*, Gratton K, Quiezada E, Rutter H, Tsuda T*, Soteropoulos P: Gene expression profile of bioreactor-cultured cardiac cells: Activation of morphogenetic pathways for tissue engineering. DNA Cell Biol 26;425-434, 2007.
  2. Al-Rahawan MM, Chute DJ, Sol-Church K*, Gripp KW, Stabley DL, McDaniel NL, Wilson WG, Haldron G: Hepatoblastoma and Heart Transplantation in a Patient with Cardio-Facio-Cutaneous Syndrome. Am J Med Genet A. Jul ;143(13):1481-8 [Jun 13, 2007 Epub ahead of print].
  3. Axelrad ME, Nicholason L, Stabley DL, Sol-Church K*, Gripp KW: Longitudinal assessment of cognitive characteristics in Costello syndrome. Am J. Med Genet A. 2007 Dec 15;143A(24):3185-93. 2007.
  4. Babu PB, Chidekel A*, Shaffer TH*: Association of interleukin-8 with inflammatory and innate immune components in bronchoalveolar lavage of children with chronic respiratory diseases. Clin Chim Acta. Dec;350(1-2):195-200, 2004.
  5. Babu PB, Chidekel A*, Shaffer TH*: Hyperoxia-induced changes in human airway epithelial cells: the protective effect of perflubron. Pediatr Crit Care Med. Mar;6(2):188-94, 2005.
  6. Barthold JS*, Manson J, Regan V, Si X, Hassink SG, Coughlin MT and Lee PA: Reproductive hormone levels in cryptorchid infants during postnatal activation of the pituitary-testicular axis. J Urol, 172:1736-41, 2004.
  7. Barthold JS*, Si X*, Stabley D, Sol-Church K*, McCahan SM*: Failure of shortening and inversion of the perinatal gubernaculums in the cryptorchid LE/orl rat. J Urol, 176:1612-1617, 2006.
  8. Barthold JS*, McCahan SM*, Singh AV, Knudsen TB, Si X, Campion L*, Akins RE*: Altered expression of muscle and cytoskeleton-related genes in a rat strain with inherited cryptorchidism. J Androl May-Jun;29(3):352-66. Epub Jan 24 2008.
  9. Bolognani F, Merhege MA, Twiss JL*, Perrone-Bizazozerl NI: Differential localization of the RNA-binding protein HuD in hippocampal neurons: Association with polysomes and upregulation during contextual learning. Neurosci Letters 371:152-157, 2006.
  10. Brunelli L, Hamilton E, Davis JM, Koo HC, Joseph A, Kazzaz JA, Wolfson MR*, Shaffer TH*: Perfluorochemical liquids enhance delivery of superoxide dismutase to the lungs of Juvenile rabbits. Pediatr Res. 60(1):65-70, 2006.
  11. Bunnell HT*, Lilley J. Analysis Methods for Assessing TTS Intelligibility. Proceedings of the 6th ISCA Workshop on Speech Synthesis. Bonn, Germany, August 2007.
  12. Chang JH, Vuppalanchi D, van Niekerk E, Trepel JB, Schanen NC*, and Twiss JL*. (2006). PC12 cells regulate ICER expression to differentially control CRE-dependent transcription in response to NGF and cAMP. J. Neurochem. 99:1517-1530, 2006.
  13. Constantino ML, Shaffer TH*, Wauer RR, Rudiger M: The 5th European Symposium on Perfluorocarbon (PFC) Application. ASAIO J. 52(4):483-484, 2006.
  14. Cullen AB, Cooke, PH, Driska SP, Wolfson MR*, Shaffer TH*: Correlation of tracheal smooth muscle function with structure and protein expression during early development. Pediatr Pulmonol. 42(5):421-432, 2007.
  15. Fainzilber M and Twiss JL*. Tracking in the Wilds - the hunting of the SIRT and the luring of the Draper. Neuron 50:819-21, 2005.
  16. Gaido KW, Hensley J, Liu D, Wallace DG, Borghoff B, Johnson KJ*, Boekelheide K: Fetal mouse phthalate exposure shows that gonocyte multinucleation is not associated with decreased testicular steroidogenesis. Toxicol. Sci. 97:491-50, 2007.
  17. Gomez-Curet I*, Robinson KG*, Funange VL*, Crawford TO, Scavina M*, Wang W*: Robust quantification of the SMN gene copy number by real-time TaqMan PCR. Neurogenetics. Nov;8(4):271-8, 2007.
  18. Goodman OB Jr, Barwe SP, Ritter B, McPherson PS, Vasko AJ, Keen JH, Nanus DM, Bander NH, Rajasekaran AK*: Interaction of prostate specific membrane antigen with clathrin and the adaptor protein complex-2. Int J Oncol. 31(5):1199-1203, Nov 2007.
  19. Gorman MP, Golomb MR, Walsh LE, Hobson GM*, Garbern JY, Kinkel BT, Darras BY, Urion DK, Eksioglu YZ: Steroid-responsive neurologic relapses in a child with a proteolipid protein-1 mutation. Neurology 68:1305-1307, 2007.
  20. Greenspan JS*, Miller TL*, Shaffer TH*: The neonatal respiratory pump: a developmental challenge with physiologic limitations. Neonatal Netw. 2005 Sept-Oct;24(5):15-22, 2005.
  21. Gripp KW, Lin AE, Stabley DL, Nicholson L, Scott CI, , Doyle D, Aoki Y, Matsubara Y, Zackai EH, Lapunzina P, Gonzalez-Meneses A, Holbrook J, Agresta CA, Gonzalez IL, Sol-Church K*: HRAS Mutation Analysis in Constello Syndrome: Genotype and Phenotype Correlation. Am J. Med Genetics 9999:1-6, 2005.
  22. Gripp KW, Innes AM Axelrad ME, Gillan TL, Parboosingh JS, Davies C, Leonard NJ, LaPointe M, Doyle D, Catalano S, Nicholson L, Stabley DL, Sol-Church K*: Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype? Am J Med Genet A. Mar 15;146(A):683-690, 2008.
  23. Gripp KW, Lin AE, Nicholson L, Allen W, Cramer A, Jones K, Kutz W, Peck D, Wheeler PG, Wilson W, Al-Rahawan MM, Stabley DL, Sol-Church K*: Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate Cardio-Facio-Cutaneous Syndrome from Costello Syndrome. Am J Med Genet A. July 1;143(13):1472-80 [June 5, 2007 Epub ahead of print).
  24. Ham Al, Kumar A, Deeter R, Schanen NC*: Does Genotype Predict Phenotype in Rett Syndrome? J Child Neurol 20:001-011, 2005.
  25. Haritunians T, Chow T, De Lane RPJ, Nichols JT, Ghavimi D, Dorrani N, St. Clair DM, Weinmaster G, Schanen C*: Functional analysis of a recurrent missense mutation in Notch3 in CADASIL. J Neuro Neurosurg Psychiatry, 000:108, 2005.
  26. Holbrook JF, Stabley D, Sol-Church K*: Exploring Whole Genome Amplification as a DNA Recovery Tool for Molecular Genetic Studies. J Biomolecular Tech. 16:125-133. 2005.
  27. Hogart A, Wu D, LaSalle JM, Schanen NC*: The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13. Neurobiol Dis, September 2008 [Epub ahead of print].
  28. Inge LJ, Rajasekaran SA*, Yoshimoto K, Mischel PS, McBride W, Landaw E, Rajasekaran AK*: Evidence for a potential tumor suppressor role for the Na, K-ATPase beta 1-subunit. Histol Histopathol 23(4):459-467, April 2008.
  29. Jeng MJ, Yang SS, Hwang B, Wolfson MR*, Shaffer TH*: Effects of perfluorochemical evaporative properties on oxygenation during partial liquid ventilation. Pediatri Int. 48(6):608-615, 2006.
  30. Johnson KJ*, Hensley JB, Kelso MD, Wallace DG, Gaudi KW: Mapping gene expression changes in the fetal rat testis following acute dibutyl phthalate exposure defines a complex temporal cascade of responding cell types. Biol. Reprod 77:978-89, 2007.
  31. Kirkby S, Greenspan JS*, Kornhauser M, Schneiderman R: Clinical outcomes and cost of the moderately preterm infant. Adv Neonatal Care, Apr;7(2):80-7, 2007.
  32. Kobayashi N, Kostka G, Garbe JHO, Keen DR, Bachinger, Hanisch F-G, Markova D, Tsuda T*, Timpll R, Chu M-L, Sasaki T: A comparative analysis of the fibulin protein family: Biochemical characterization, binding interactions and tissue localization. J. Biol Chem 282;11805-11816, 2007.
  33. Kraft WK, Gibson E, Dysart K*, Damle VS, Larusso JL, Greenspan JS*, Moody DE, Kaltenbach K, Ehrlich ME: Sublingual buprenorphine for treatment of neonatal abstinence syndrome: a randomized trial. Pediatrics Sep;122(3):e601-7. [Epub ahead of print].
  34. Kruttgen A and Twiss JL*, SYMPOSIUM: Neurotrophins and Brain Pathology. Brain Pathol. 16:287, 2006.
  35. Kumar A, Kamboj S, Malone BM, Kudo S, Twiss JL*, Czymmek KJ, La Salle JM, Schanen NC*: Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. J Cell Science, 121:1128-1137, 2008.
  36. Lee ES, Moon HK, Park YH, Garbern J, Hobson GM*: A case of complicated spastic paraplegia 2 due to a point mutation in the proteolipid protein 1 gene. J. Neurol Sci, 224:83-87, 2004.
  37. Miller TL*, Touch SM, Shaffer TH*: Matrix metalloproteinase and tissue inhibitor of matrix metalloproteinase expression profiles in tracheal aspirates do not adequately reflect tracheal or lung tissue profiles in neonatal respiratory distress: Observations from an animal mode. Pediatr Crit Care Med. Jan:7(1):63-69, 2006.
  38. Miller TL*, Touch SM, Singhaus CJ, Ramesh Babu PB, Chidekel A*, Shaffer TH*: Expression of Matrix Metalloproteinases 2, 7 and 9 and Their Tissue Inhibitors 1 and 2 in Developing Rabbit Tracheae. Biol Neonate. Nov 24;89(4):236-243 (Epub ahead of print), 2005.
  39. Miller TL*, Shashikant BN, Melby JM, Pilon AL, Shaffer TH*, Wolfson MR*: Recombinant human Clara cell secretory protein in acute lung injury of the rabbit: effect of route of administration. Pediatr Crit Care Med. Nov; 6(6):698-706, 2005.
  40. Miller TL*, Shashikant BN, Pilon AL, Pierce RA, Shaffer TH*, Wolfson MR*: Effects of an Intratracheally Delivered Anti-Inflammatory Protein (rhCC10) on Physiological and Lung Structural Indices in a Juvenile Model of Acute Lung Injury. Biol Neonate, Oct 6;89(3):159-170 (Epub ahead of print), 2005.
  41. Miller TL*, Shaffer TH*, Wolfson MR*: Neonatal chest wall suspension splint: a novel and noninvasive method for support of lung volume. Pediatr Pulmonol. Jun;39(6):512-20, 2005.
  42. Miller TL*, Shashikant BN, Pilon AL, Pierce RA, Shaffer TH*, Wolfson MR*: Effects of recombinant clara cell secretory protein (rhCC10) on inflammatory-related Matrix metalloproteinase activity in a preterm lamb model of neonatal respiratory distress. Pediatr Crit Care Med. 8(1):40-46, 2007.
  43. Miller TL*, Zhu Y*, Altman AR, Dysart K*, Shaffer TH*: Sequential alterations of Tracheal Mechanical properties in the neonatal lamb: Effect of mechanical ventilation. Pediatr Pulmonol 42(2): 141-9, 2007
  44. Miller TL*, Altman AR, Tsuda T*, Shaffer TH*: An ultrasound imaging method for In vivo tracheal bulk and Youngs moduli of elasticity. J Biomech 40(7):1615-1621, 2007.
  45. Miller TL*, Cox T, Blackson T, Paul D, Weiss K, Shaffer TH*: Pulmonary function assessment in an infant with Barnes Syndrome: Proactive evaluation for surgical intervention. Pediatrics. 118(4):e1264-7, 2006.
  46. Miller TL*, Zhu Y*, Markwardt S, Singhaus C, Chidekel AS*, Shaffer TH*: Dissociation between the effects of oxygen and pressure on matrix metalloproteinase -2, -7 and -9 expression in human airway epithelial cells. Am Perinatol, Aug 21, 2008 [Epub ahead of print)
  47. Mizuno J, Akune T, Tsuda T*, Fukui Y, Otsuji M, Kin N, Saito Y, Orii R, Hayashida M, Arita J, Hanaoka K: Time course of systolic and diastolic blood pressure decreases during the preintubation period of anesthesia induction: Modeling with a logistic function. J. Clin Anesthesia 19:497-550, 2007.
  48. Mizuno J, Tsuda T*, Otsuji M, Arita H, Nanaoka K: Assessment by logistic model of hemodynamic changes during teneral anesthetic. Masui 57:341-351, 2008.
  49. Nawab US, Touch SM, Irwin-Sherman T, Blackson TJ, Greenspan JS*, Zhu G, Shaffer TH*, Wolfson MR*: Heliox attenuates lung inflammation and structural alterations in acute lung injury. Pediatr Pulmonol. Dec;40(6):524-32, 2005.
  50. Nishimura Y, Martin CL, Lopez AV, Spence SJ, Alvarez-Retuerto AI, Sigman M, Steindler C, Pellegrini S. Schanen NC*, Warren ST, Geschwind DH: Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways. Human Molecular Genetics, 16(14): 1682-1608, 2007.
  51. Oliver RE, Rozycki HJ, Greenspan JS, Wolfson MR*, Shaffer TH*: Tracheal gas insufflation as a lung-protective strategy: physiologic, histologic, and biochemical markers. Pediatr Crit Care Med. Jan;6(1):64-9, 2005.
  52. Olson WC, Heston WD, Rajasekaran AK*: Clinical trials of cancer therapies targeting prostate-specific membrane antigen: Rev Recent Clin Trials 2(3):182-190, Sept. 2007.
  53. Parokonny AS, Wang NJ, Driscol J, Cuccaro M, Wolport C, Malone BM, Schanen NC*: Atypical breakpoints generating mosaic interstitial duplication and triplication of chromosome 15q11-q13. Am J Medical Genetics, Part A 142A:2473-2477. October 15, 2007.
  54. Rajasekaran SA*, Beyenbach KS, Rajasekaran AK*: Interactions of tight junctions with membrane channels and transporters. Biochim Biophys Acta. 1778(30:757-69, March 2008.
  55. Seligson DB, Rajasekaran SA*, Yu H, Liu X, Eeva M, Tze S, Ball W Jr, Horvath S, deKernion JB, Rajasekaran AK*: Na, K-adenosine triphosphatase alpha 1-subunit predicts survival of renal clear cell carcinoma. J Urol 179(1):338-345, Jan 2008.
  56. Shashikant BN, Miller TL*, Welch RW, Pilon AL, Shaffer TH*, Wolfson MR*: Dose response to rhCC10-augmented surfactant therapy in a lamb model of infant respiratory distress syndrome: physiologica, inflammatory and kinetic profiles. J Appl Physiol. Dec;99(6):2204-11, 2005. Epub 2005 Aug 4, 2005.
  57. Shashikant BN, Miller TL*, Jeng MJ, Davis J*, Shaffer TH*, Wolfson MR*: Differential impace of perfluorochemical physical properties on the physiologic, histologic and inflammatory profile in acute lung injury. Crit Care Med. May;33(5):1095-103, 2005.
  58. Sherman TI, Greenspan JS*, St Clair N, Touch SM, Shaffer TH*: Optimizing the Neonatal thermal environment. Neonatal Network. 25(4):251-60, 2006.
  59. Shaffer TH*: History of liquid ventilation. ASAIO J. 52(4):485, 2006.
  60. Sicot F-X, Tsuda T*, Markova D, Klemment JF, Birk D, Chu M-L: Fibulin-2 is a dispensable for mouse development and elastic fiber formation. Mol Cell Biology 28; 1061-1067, 2008.
  61. Singhaus CJ, Touch SM, Greenspan JS*, Wolfson MR*, Shaffer TH*: A prototype Infant incubator for heliox therapy. Biomed Instrum. Technol. (40)2:150-163, 2006.
  62. Singhaus CJ, Utidjian LH, Akins RE*, Touch SM, Shaffer TH*: Growth and Development in a Heliox (Hx) Incubator Environment: A Long-Term Safety Study. Neonatology 921:28-25, 2007.
  63. Sol-Church K*: HRAS Mutation Analysis in Constello Syndrome: Genotype and Phenotype Correlation. Am J. Med Genetics 9999:1-6, 2005.
  64. Sturtz WJ, Touch SM, Locke RG, Greenspan JS*, Shaffer TH*: Assessment of neonatal ventilation during high-frequency oscillatory ventilation. Pediatr Crit Care Med, Jan:9(1):1001-1004, 2008.
  65. Theroux MC*, Olivant A, Lim D, Bernardi JP, Costarino AT, Shaffer TH*, Miller TL*: Low-dose methylprednisolone prophylaxis to reduce inflammation during one-lung ventilation. Paediatr Anaesth, 8(9):857-864, Sept 2008.
  66. Twiss JL*, Chang JH, and Schanen NC*:. Pathophysiological mechanisms for actions of the neurotrophins. Brain Pathol 16:320-32, 2006.
  67. vanNiekerk E, Chang JH, Willis DE, ReumannK, Heise T, Twiss JL*: Sumoylation in axons triggers retrograde transport of the RNA binding protein La. Proc Natl. Acad., Sci USA 104:12913-12918, July 2007.
  68. Wang E, Huang Z., Hobson GM*, Dimova N, Sperle K*, McCullough A, Cambi F*: PLP1 alternative splicing in differentiating oligodendrocytes: Characterization of an exonic splicing enhancer. J Cell Biochem 97:999-1016, 2006.
  69. Wang NJ, Song H-R, Schanen NC*, Litman NL, Frasier SD: Frasier Syndrome Comes Full Circle: Genetic Studies Performed in an Original Patient. J Pediatr June (2);029; 843-845, 2006.
  70. Wang NJ, Parokonny AS, Thatcher KN, Driscoll J, Malone BM, Dorrani N, Sigman M, LaSalle JM, Schanen NC*: Multiple forms of atypical rearrangements generating supernumerary derivative chromosome 15. BMC Genetics 9(2): Jan 4, 2008.
  71. Wang W*, DiMatteo D*, Funanage VL*, Scavina ML*: Increased susceptibility of Spinal muscular atrophy fibroblasts to camptothecin-induced cell death. Molecular Genetics and Metabolism 85:38-45, 2005.
  72. Wang W*, vanNiekerk E, Willis DE, Twiss JL*: RNA transport and localized protein synthesis in neurological disorders and neural repair. Developmental Neurobiology, 67:1166-1182, 2007.
  73. Wang Y, Barthold J*, Kanetsky P, Casalunovo T, Pearson E, Manson J*: Allelic variants in HOX genes in cryptorchidism. Birth Defects Res A Clin Mol Teratol. 79:269-275, 2007.
  74. Wang Y, Barthold J*, Figueroa E, Gonzalez R, Noh PH, Wang M, Manson J*: Analysis of five single nucleotide polymorphisms in the ESR 1 gene in cryptorchidism. Birth Defects Res A Clin Mol Teratol. May 1, 2008. Epub ahead of print.
  75. Willis DE, Li K-W, Zheng JQ, Smit A, Kelly TK, Merianda T, Sylvester J, van Minnen J, Twiss JL*. Differential transport and local translation of cytoskeletal injury-response, and neurodegeneration protein mRNAs in axons. J Neurosci. 25:778-791, 2004.
  76. Willis DE and Twiss JL*: The evolving roles of axonally synthesized proteins in regeneration. Neurobiology 16(1):108, 2005.
  77. Willis DE, vanNiekerk E, Sasaki Y, Merianda TT, Williams GG, Kendall M, Bassell GJ, Twiss JL*: Extracellular stimuli specifically regulate localization of individual neuronal mRNAs. J Cell Biology 178:965-80. Sept 2007.
  78. Wolf NI, Sistermans EA, Cundall M, Hobson GM*, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endzinience M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward K: Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease. Brain. 128:743-751, 2005.
  79. Wolfson MR and Shaffer TH: Pulmonary applications of perfluorochemical liquids: ventilation and beyond. Pediatr Respir Rev. June;6(2):117-27, 2005.
  80. Wolfson MR*, Hirschl RB, Jackson JC, Gauvin F, Foley DS, Lamm WJ, Gaughan J, Shaffer TH*: Multicenter comparative study of conventional mechanical gas ventilation to tidal liquid ventilation in oleic acid injured sheep. ASAIO J., 54(3):256-69, May-June 2007.
  81. Wolfson MR*, Funanage VL*, Kirwin SM, Pilon AL, Shashikant BN, Miller TL*, Shaffer TH*: Recombinant human clara cell secretory protein treatment increases lung mRNA expression of surfactant proteins and vascular ehdothelial growth factor in a premature lamb model of respiratory distress syndrome. Am J Perinatol. [Epub ahead of print]. Oct 7 2008.
  82. Wolfson MR*, Malone DJ, WU J, Hoffman J, Rozenberg A, Shaffer TH*, Barbut D: Intranasal perfluorochemical spray for preferential brain cooling in sheet. Neuro Crit Care, 8(3):437-47, 2008.
  83. Yang SS, Jeng ML, McShane R, Chen CY, Wolfson MR*, Shaffer TH*: Cold perfluorochemical-induced hypothermia protects lung integrity in normal rabbits. Biol Neonate. 87(1):60-5, 2005. Epub 2004 Sep 30, 2005.
  84. Zhu Y*, Miller TL*, Chidekel A*, Shaffer TH*: KL4-surfactant (Lucinactant) protects human airway epithelium from hyperoxia. Pediatr Res. March 26, 2008 [Epub ahead of print].
  85. Zhu Y*, Miller TL*, Singhaus CJ, Shaffer TH*, Chidekel A*: Effects of oxygen concentration and exposure time on cultured human airway epithelial cells. Pediatr Crit Care Med, Mar; 9(2):224-229, 2008.

Book Chapters

  1. Shaffer TH*, Wolfson MR*. Liquid Ventilation. In Fetal and Neonatal Physiology (ed): Polin RA, Fox WW, and Abman SH. W.B. Saunders, 3rd edition, 985-1001, 2004
  2. Wolfson MR*, Shaffer TH*: Respiratory Physiology: Structure, Function and Integrative Responses to Intervention with Special Emphasis on the Ventilatory Pump. In: Cardiopulmonary Physical Therapy, Edited by S Irwin, J. Tecklin, C.V. Mosby Co., St. Louis, 4th edition. 2004.
  3. Barthold JS*: Basic Science of the Testis: In: Clinical Pediatric Urology, 5th Edition. SG Docimo, DA Canning, AE Khoury. London. Informa. Chapter 72, 2007.
  4. MacDonald MF, Barthold JS*, Kass EJ: Abnormalities of the Penis and Scrotum. In: Clinical Pediatric Urology, 5th Edition. SG Docimo, DA Canning, AE Khoury. London: Informa, Chapter 66, 2007.
  5. Miller TL*, Ellwanger DL, Weber-Hardy LA, Shaffer TH* Greenspan JS*: Neonatal Pulmonary Disorders. Perinatal and Pediatric Respiratory Care (3rd Edition). Eds: M. Czervinske and B. Walsh. Elsevier, St. Louis, MO, 2008.
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