Return to list Publications :: 2013



  • Abreu AP, Dauber A, Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P, Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T, Kochi C, Longui CA, Beckers D, de Zegher F, Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, Kaiser UB. Central precocious puberty caused by mutations in the imprinted gene MKRN3. N Engl J Med 2013;368(26):2467-75. PMCID: 3808195.
  • Aden U, Lin A, Carlo W, Leviton A, Murray JC, Hallman M, Lifton RP, Zhang H, Ment LR. Candidate gene analysis: severe intraventricular hemorrhage in inborn preterm neonates. J Pediatr 2013;163(5):1503-6 e1. PMCID: 3812267.
  • Akhondi-Asl A, Warfield SK. Simultaneous truth and performance level estimation through fusion of probabilistic segmentations. IEEE Trans Med Imaging 2013;32(10):1840-52. PMCID: 3788853. Core A.
  • Alexander MS, Kawahara G, Motohashi N, Casar JC, Eisenberg I, Myers JA, Gasperini MJ, Estrella EA, Kho AT, Mitsuhashi S, Shapiro F, Kang PBKunkel LM. MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation. Cell Death Differ 2013;20(9):1194-208. PMCID: 3741500. Core F.
  • Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ. Large duplication in MTM1 associated with myotubular myopathy. Neuromuscul Disord 2013;23(3):214-8. PMCID: 3594803.
  • Appler JM, Lu CC, Druckenbrod NR, Yu WM, Koundakjian EJ, Goodrich LV. Gata3 is a critical regulator of cochlear wiring. J Neurosci 2013;33(8):3679-91. PMCID: 3613247. Core E.
  • Arbab M, Mahony S, Cho H, Chick JM, Rolfe PA, van Hoff JP, Morris VW, Gygi SP, Maas RL, Gifford DK, Sherwood RI. A multi-parametric flow cytometric assay to analyze DNA-protein interactions. Nucleic Acids Res 2013;41(2):e38. PMCID: 3554230.
  • Arrington DK, Danehy AR, Peleggi A, Proctor MR, Irons MB, Ullrich NJ. Calvarial defects and skeletal dysplasia in patients with neurofibromatosis Type 1. J Neurosurg Pediatr 2013;11(4):410-6. PMCID: N/A.
  • Asai M, Ramachandrappa S, Joachim M, Shen Y, Zhang R, Nuthalapati N, Ramanathan V, Strochlic DE, Ferket P, Linhart K, Ho C, Novoselova TV, Garg S, Ridderstrale M, Marcus C, Hirschhorn JN, Keogh JM, O’Rahilly S, Chan LF, Clark AJ, Farooqi IS, Majzoub JA. Loss of function of the melanocortin 2 receptor accessory protein 2 is associated with mammalian obesity. Science 2013;341(6143):275-8. PMCID: 3788688. Core A.
  • Ashrafi G, Schwarz TL. The pathways of mitophagy for quality control and clearance of mitochondria. Cell Death Differ 2013;20(1):31-42. PMCID: 3524633. Core C.
  • Astapova I, Hollenberg AN. The in vivo role of nuclear receptor corepressors in thyroid hormone action. Biochim Biophys Acta 2013;1830(7):3876-81. PMCID: 3529203.
  • Bagneris C, Decaen PG, Hall BA, Naylor CE, Clapham DE, Kay CW, Wallace BA. Role of the C-terminal domain in the structure and function of tetrameric sodium channels. Nat Commun 2013;4:2465. PMCID: 3791462.
  • Bahl S, Chiang C, Beauchamp RL, Neale BM, Daly MJ, Gusella JF, Talkowski ME, Ramesh V. Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder. Mol Autism 2013;4(1):5. PMCID: 3610211. Core E.
  • Baird G, Cook EH, Happe FG, Harris JC, Kaufmann WE, King BH, Lord CE, Piven J, Rogers SJ, Spence SJ, Swedo SE, Volkmar F, Wetherby AM, Wright HH. Neurodevelopmental disorders. In: American Psychiatric Association, editor. Diagnostic and Statistical Manual of Mental Disorders, 5th edition: DSM-5. Washington, DC: American Psychiatric Publishing; 2013. p. 31-86.
  • Baris HN, Chan WM, Andrews C, Behar DM, Donovan DJ, Morton CC, Ranells J, Pal T, Ligon AH, Engle EC. Complex cytogenetic rearrangements at the DURS1 locus in syndromic Duane retraction syndrome. Clin Case Rep 2013;1(1). PMCID: 3885256.
  • Bartholomew J, Martin CR, Allred E, Chen ML, Ehrenkranz RA, Dammann O, Leviton A. Risk factors and correlates of neonatal growth velocity in extremely low gestational age newborns. The ELGAN Study. Neonatology 2013;104(4):298-304. PMCID: 3929951.
  • Bartl-Pokorny KD, Marschik PB, Sigafoos J, Tager-Flusberg H, Kaufmann WE, Grossmann T, Einspieler C. Early socio-communicative forms and functions in typical Rett syndrome. Res Dev Disabil 2013;34(10):3133-8. PMCID: N/A.
  • Bazan JF, Macdonald BT, He X. The TIKI/TraB/PrgY family: a common protease fold for cell signaling from bacteria to metazoa? Dev Cell 2013;25(3):225-7. PMCID: 3794667.
  • Beier KT, Borghuis BG, El-Danaf RN, Huberman AD, Demb JB, Cepko CL. Transsynaptic tracing with vesicular stomatitis virus reveals novel retinal circuitry. J Neurosci 2013;33(1):35-51. PMCID: 3711516. Core A.
  • Beier KT, Saunders AB, Oldenburg IA, Sabatini BL, Cepko CL. Vesicular stomatitis virus with the rabies virus glycoprotein directs retrograde transsynaptic transport among neurons in vivo. Front Neural Circuits 2013;7:11. PMCID: 3566411. Core A.
  • Belfort MB, Rifas-Shiman SL, Kleinman KP, Guthrie LB, Bellinger DC, Taveras EM, Gillman MW, Oken E. Infant feeding and childhood cognition at ages 3 and 7 years: effects of breastfeeding duration and exclusivity. JAMA Pediatr 2013;167(9):836-44. PMCID: 3998659.
  • Bellinger DC. Inorganic arsenic and children’s neurodevelopment: a review of the evidence. Toxics 2013;1(1):2-17. PMCID: N/A. Core A.
  • Bellinger DC. Introducing Toxics. Toxics 2013;1(1):1. PMCID: N/A.
  • Bellinger DC. Prenatal Exposures to Environmental Chemicals and Children’s Neurodevelopment: An Update. Saf Health Work 2013;4(1):1-11. PMCID: 3601292. Core A.
  • Bellinger DC, Burger J, Cade TJ, Cory-Slechta DA, Finkelstein M, Hu H, Kosnett M, Landrigan PJ, Lanphear B, Pokras MA, Redig PT, Rideout BA, Silbergeld E, Wright R, Smith DR. Health risks from lead-based ammunition in the environment. Environ Health Perspect 2013;121(6):A178-9. PMCID: 3672933.
  • Bellinger DCNewburger JW. Late neurodevelopmental outcomes in children with congenital heart disease. In: Baron IS, Rey-Casserly C, editors. Pediatric Neuropsychology: Medical Advances and Lifespan Outcomes New York: Oxford University Press; 2013.
  • Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK, Outcome Measures Working Groups, (with Kaufmann WE). Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr 2013;34(7):508-22. PMCID: 3784007.
  • Bialas AR, Stevens B. TGF-beta signaling regulates neuronal C1q expression and developmental synaptic refinement. Nat Neurosci 2013;16(12):1773-82. PMCID: 3973738.
  • Bianco SD, Kaiser UB. Molecular biology of the kisspeptin receptor: signaling, function, and mutations. Adv Exp Med Biol 2013;784:133-58. PMCID: N/A.
  • Bloodgood BL, Sharma N, Browne HA, Trepman AZ, Greenberg ME. The activity-dependent transcription factor NPAS4 regulates domain-specific inhibition. Nature 2013;503(7474):121-5. PMCID: 4089405.
  • Boeltzig-Brown H, Sashida C, Nagase O, Kiernan WE, Foley SM. The vocational rehabilitation service system in Japan. J Vocat Rehabil 2013;38(3):169-83. PMCID: N/A - non-NIH funding.
  • Bose CL, Laughon MM, Allred EN, O’Shea TM, Van Marter LJ, Ehrenkranz RA, Fichorova RN, Leviton AELGAN Study Investigators. Systemic inflammation associated with mechanical ventilation among extremely preterm infants. Cytokine 2013;61(1):315-22. PMCID: 3518391. Core A.
  • Boyd LA, Msall ME, O’Shea TM, Allred EN, Hounshell G, Leviton A. Social-emotional delays at 2years in extremely low gestational age survivors: Correlates of impaired orientation/engagement and emotional regulation. Early Hum Dev 2013;89(12):925-30. PMCID: PMC Journal - In Process. Core A.
  • Brenneis C, Kistner K, Puopolo M, Segal D, Roberson D, Sisignano M, Labocha S, Ferreiros N, Strominger A, Cobos EJ, Ghasemlou N, Geisslinger G, Reeh PW, Bean BP, Woolf CJ. Phenotyping the function of TRPV1-expressing sensory neurons by targeted axonal silencing. J Neurosci 2013;33(1):315-26. PMCID: 3640269. Core A.
  • Brinkman TM, Ullrich NJ, Zhang N, Green DM, Zeltzer LK, Lommel KM, Brouwers P, Srivastava DK, Jain N, Robison LL, Krull KR. Prevalence and predictors of prescription psychoactive medication use in adult survivors of childhood cancer: a report from the Childhood Cancer Survivor Study. J Cancer Surviv 2013;7(1):104-14. PMCID: 3568188.
  • Brinkman TM, Zhang N, Ullrich NJ, Brouwers P, Green DM, Srivastava DK, Zeltzer LK, Stovall M, Robison LL, Krull KR. Psychoactive medication use and neurocognitive function in adult survivors of childhood cancer: A report from the childhood cancer survivor study. Pediatr Blood Cancer 2013;60(3):486-93. PMCID: 3494805.
  • Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet 2013;56(12):678-82. PMCID: 3902017. Core F.
  • Budtz-Jorgensen E, Bellinger D, Lanphear B, Grandjean P. An international pooled analysis for obtaining a benchmark dose for environmental lead exposure in children. Risk Anal 2013;33(3):450-61. PMCID: N/A.
  • Buehler A, Sitaras N, Favret S, Bucher F, Berger S, Pielen A, Joyal JS, Juan AM, Martin G, Schlunck G, Agostini HT, Klagsbrun MSmith LE, Sapieha P, Stahl A. Semaphorin 3F forms an anti-angiogenic barrier in outer retina. FEBS Lett 2013;587(11):1650-5. PMCID: 4016712. Core A.
  • Burns JC, Herzog L, Fabri O, Tremoulet AH, Rodo X, Uehara R, Burgner D, Bainto E, Pierce D, Tyree M, Cayan D, Kawasaki Disease Global Climate Consortium (with Newburger JW). Seasonality of Kawasaki disease: a global perspective. PLoS One 2013;8(9):e74529. PMCID: 3776809.
  • Cabungcal JH, Steullet P, Morishita H, Kraftsik R, Cuenod M, Hensch TK, Do KQ. Perineuronal nets protect fast-spiking interneurons against oxidative stress. Proc Natl Acad Sci U S A 2013;110(22):9130-5. PMCID: 3670388.
  • Carey AS, Liang L, Edwards J, Brandt T, Mei H, Sharp AJ, Hsu DT, Newburger JW, Ohye RG, Chung WK, Russell MW, Rosenfeld JA, Shaffer LG, Parides MK, Edelmann L, Gelb BD. Effect of copy number variants on outcomes for infants with single ventricle heart defects. Circ Cardiovasc Genet 2013;6(5):444-51. PMCID: 3987966.
  • Carvacho I, Lee HC, Fissore RA, Clapham DE. TRPV3 channels mediate strontium-induced mouse-egg activation. Cell Rep 2013;5(5):1375-86. PMCID: 3918412.
  • Cassedy A, Drotar D, Ittenbach R, Hottinger S, Wray J, Wernovsky G, Newburger JW, Mahony L, Mussatto K, Cohen MI, Marino BS. The impact of socio-economic status on health related quality of life for children and adolescents with heart disease. Health Qual Life Outcomes 2013;11:99. PMCID: 3691729.
  • Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013;81(14):1205-14. PMCID: 3795603. Core F.
  • Chapleau CA, Lane J, Kirwin SM, Schanen C, Vinette KM, Stubbolo D, Macleod P, Percy AK, (with Kaufmann WE). Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in rett syndrome. Am J Med Genet A 2013;161(7):1638-46. PMCID: 3689857.
  • Chaudhuri D, Sancak Y, Mootha VK, Clapham DE. MCU encodes the pore conducting mitochondrial calcium currents. Elife 2013;2:e00704. PMCID: 3673318.
  • Chen H, Ma H, Inuzuka H, Diao J, Lan F, Shi YG, Wei W, Shi Y. DNA damage regulates UHRF1 stability via the SCF(beta-TrCP) E3 ligase. Mol Cell Biol 2013;33(6):1139-48. PMCID: 3592027.
  • Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jr., Jabs EW, Hunter DG, Grant PEEngle EC. A novel syndrome caused by the E410K amino acid substitution in the neuronal beta-tubulin isotype 3. Brain 2013;136(Pt 2):522-35. PMCID: 3572929. Cores B, C, D, E, and F.
  • Chiu IM, Heesters BA, Ghasemlou N, Von Hehn CA, Zhao F, Tran J, Wainger B, Strominger A, Muralidharan S, Horswill AR, Bubeck Wardenburg J, Hwang SW, Carroll MC, Woolf CJ. Bacteria activate sensory neurons that modulate pain and inflammation. Nature 2013;501(7465):52-7. PMCID: 3773968. Cores A, C, G, and Translational Core.
  • Chiu YH, Bellinger DC, Coull BA, Anderson S, Barber R, Wright RO, Wright RJ. Associations between traffic-related black carbon exposure and attention in a prospective birth cohort of urban children. Environ Health Perspect 2013;121(7):859-64. PMCID: 3701996.
  • Choe MS, Ortiz-Mantilla S, Makris N, Gregas M, Bacic J, Haehn D, Kennedy D, Pienaar R, Caviness VS, Jr., Benasich AA, Grant PE. Regional Infant Brain Development: An MRI-Based Morphometric Analysis in 3 to 13 Month Olds. Cereb Cortex 2013;23(9):2100-17. PMCID: 3729199.
  • Chung WS, Clarke LE, Wang GX, Stafford BK, Sher A, Chakraborty C, Joung J, Foo LC, Thompson A, Chen C, Smith SJ, Barres BA. Astrocytes mediate synapse elimination through MEGF10 and MERTK pathways. Nature 2013;504(7480):394-400. PMCID: 3969024.
  • Ciesielski T, Bellinger DC, Schwartz J, Hauser R, Wright RO. Associations between cadmium exposure and neurocognitive test scores in a cross-sectional study of US adults. Environ Health 2013;12:13. PMCID: 3599125.
  • Clouchoux C, du Plessis AJ, Bouyssi-Kobar M, Tworetzky W, McElhinney DB, Brown DW, Gholipour A, Kudelski D, Warfield SK, McCarter RJ, Robertson RL, Jr., Evans AC, Newburger JW, Limperopoulos C. Delayed cortical development in fetuses with complex congenital heart disease. Cereb Cortex 2013;23(12):2932-43. PMCID: N/A.
  • Coma S, Allard-Ratick M, Akino T, van Meeteren LA, Mammoto A, Klagsbrun M. GATA2 and Lmo2 control angiogenesis and lymphangiogenesis via direct transcriptional regulation of neuropilin-2. Angiogenesis 2013;16(4):939-52. PMCID: 3793839.
  • Connolly AM, Florence JM, Cradock MM, Malkus EC, Schierbecker JR, Siener CA, Wulf CO, Anand P, Golumbek PT, Zaidman CM, Philip Miller J, Lowes LP, Alfano LN, Viollet-Callendret L, Flanigan KM, Mendell JR, McDonald CM, Goude E, Johnson L, Nicorici A, Karachunski PI, Day JW, Dalton JC, Farber JM, Buser KK, Darras BTKang PB, Riley SO, Shriber E, Parad R, Bushby K, Eagle M, MDA DMD Clinical Research Network. Motor and cognitive assessment of infants and young boys with Duchenne Muscular Dystrophy: results from the Muscular Dystrophy Association DMD Clinical Research Network. Neuromuscul Disord 2013;23(7):529-39. PMCID: 3743677.
  • Cosker KE, Pazyra-Murphy MF, Fenstermacher SJ, Segal RA. Target-derived neurotrophins coordinate transcription and transport of bclw to prevent axonal degeneration. J Neurosci 2013;33(12):5195-207. PMCID: 3866501.
  • Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, Philippakis A, Hoischen A, Riemer G, Steen U, Steen VM, Mathur J, Cox J, Lebo M, Rehm H, Weiss ST, Wood JN, Maas RL, Sunyaev SR, Patapoutian A. Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis. Proc Natl Acad Sci U S A 2013;110(12):4667-72. PMCID: 3607045.
  • De Robertis A, Valensin S, Rossi M, Tunici P, Verani M, De Rosa A, Giordano C, Varrone M, Nencini A, Pratelli C, Benicchi T, Bakker A, Hill J, Sangthongpitag K, Pendharkar V, Liu B, Ng FM, Then SW, Jing Tai S, Cheong SM, He X, Caricasole A, Salerno M. Identification and characterization of a small-molecule inhibitor of Wnt signaling in glioblastoma cells. Mol Cancer Ther 2013;12(7):1180-9. PMCID: 3707945.
  • de Vries LS, Volpe JJ. Value of sequential MRI in preterm infants. Neurology 2013;81(24):2062-3. PMCID: N/A.
  • de Winter JM, Buck D, Hidalgo C, Jasper JR, Malik FI, Clarke NF, Stienen GJ, Lawlor MW, Beggs AH, Ottenheijm CA, Granzier H. Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations. J Med Genet 2013;50(6):383-92. PMCID: 3865762.
  • DeCaen PG, Delling M, Vien TN, Clapham DE. Direct recording and molecular identification of the calcium channel of primary cilia. Nature 2013;504(7479):315-8. PMCID: 4073646. Core A.
  • Del Rio T, Nishitani AM, Yu WM, Goodrich LV. In vivo analysis of Lrig genes reveals redundant and independent functions in the inner ear. PLoS Genet 2013;9(9):e1003824. PMCID: 3784559. Core A.
  • Delling M, DeCaen PG, Doerner JF, Febvay S, Clapham DE. Primary cilia are specialized calcium signalling organelles. Nature 2013;504(7479):311-4. PMCID: 4112737. Core A.
  • Dimitriadi M, Kye MJ, Kalloo G, Yersak JM, Sahin M, Hart AC. The neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy models. J Neurosci 2013;33(15):6557-62. PMCID: 3652322. Core A.
  • Do MT, Yau KW. Adaptation to steady light by intrinsically photosensitive retinal ganglion cells. Proc Natl Acad Sci U S A 2013;110(18):7470-5. PMCID: 3645585.
  • Duffy FH, Eksioglu YZ, Rotenberg A, Madsen JR, Shankardass A, Als H. The frequency modulated auditory evoked response (FMAER), a technical advance for study of childhood language disorders: cortical source localization and selected case studies. BMC Neurol 2013;13:12. PMCID: 3582442. Core A.
  • Duffy FH, Shankardass A, McAnulty GB, Als H. The relationship of Asperger’s syndrome to autism: a preliminary EEG coherence study. BMC Med 2013;11:175. PMCID: 3729538. Core A.
  • Ebert DH, Gabel HW, Robinson ND, Kastan NR, Hu LS, Cohen S, Navarro AJ, Lyst MJ, Ekiert R, Bird AP, Greenberg ME. Activity-dependent phosphorylation of MeCP2 threonine 308 regulates interaction with NCoR. Nature 2013;499(7458):341-5. PMCID: 3922283. Core A.
  • Eicher JD, Powers NR, Miller LL, Akshoomoff N, Amaral DG, Bloss CS, Libiger O, Schork NJ, Darst BF, Casey BJ, Chang L, Ernst T, Frazier J, Kaufmann WE, Keating B, Kenet T, Kennedy D, Mostofsky S, Murray SS, Sowell ER, Bartsch H, Kuperman JM, Brown TT, Hagler DJ, Jr., Dale AM, Jernigan TL, Pourcain BS, Smith GD, Ring SM, Gruen JR. Genome-wide association study of shared components of reading disability and language impairment. Genes Brain Behav 2013;12(8):792-801. PMCID: 3904347.
  • Eisenberg MA, Andrea J, Meehan W, Mannix R. Time interval between concussions and symptom duration. Pediatrics 2013;132(1):8-17. PMCID: N/A.
  • Emerson MM, Surzenko N, Goetz JJ, Trimarchi J, Cepko CL. Otx2 and Onecut1 promote the fates of cone photoreceptors and horizontal cells and repress rod photoreceptors. Dev Cell 2013;26(1):59-72. PMCID: PMC3819454.
  • Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. Comparative RNA editing in autistic and neurotypical cerebella. Mol Psychiatry 2013;18(9):1041-8. PMCID: 3494744. Core F.
  • Fang R, Chen F, Dong Z, Hu D, Barbera AJ, Clark EA, Fang J, Yang Y, Mei P, Rutenberg M, Li Z, Zhang Y, Xu Y, Yang H, Wang P, Simon MD, Zhou Q, Li J, Marynick MP, Li X, Lu H, Kaiser UB, Kingston RE, Shi YG. LSD2/KDM1B and its cofactor NPAC/GLYR1 endow a structural and molecular model for regulation of H3K4 demethylation. Mol Cell 2013;49(3):558-70. PMCID: 3625064.
  • Farias M, Jenkins K, Lock J, Rathod R, Newburger J, Bates DW, Safran DG, Friedman K, Greenberg J. Standardized Clinical Assessment And Management Plans (SCAMPs) provide a better alternative to clinical practice guidelines. Health Aff (Millwood) 2013;32(5):911-20. PMCID: 3990928.
  • Favazza TL, Tanimoto N, Munro RJ, Beck SC, Garcia Garrido M, Seide C, Sothilingam V, Hansen RM, Fulton AB, Seeliger MW, Akula JD. Alterations of the tunica vasculosa lentis in the rat model of retinopathy of prematurity. Doc Ophthalmol 2013;127(1):3-11. PMCID: 3775643.
  • Fernandez IS, Chapman KE, Peters JMKothare SV, Nordli DR, Jr., Jensen FE, Berg AT, Loddenkemper T. The tower of Babel: Survey on concepts and terminology in electrical status epilepticus in sleep and continuous spikes and waves during sleep in North America. Epilepsia 2013;54(4):741-50. PMCID: PMC Journal - In Process.
  • Ferrero DM, Liberles SD. Animal behavior: shifting neural circuits with sex hormones. Curr Biol 2013;23(14):R621-3. PMCID: N/A.
  • Ferrero DM, Moeller LM, Osakada T, Horio N, Li Q, Roy DS, Cichy A, Spehr M, Touhara K, Liberles SD. A juvenile mouse pheromone inhibits sexual behaviour through the vomeronasal system. Nature 2013;502(7471):368-71. PMCID: 3800207.
  • Fisher MJ, Avery RA, Allen JC, Ardern-Holmes SL, Bilaniuk LT, Ferner RE, Gutmann DH, Listernick R, Martin S, Ullrich NJ, Liu GT. Functional outcome measures for NF1-associated optic pathway glioma clinical trials. Neurology 2013;81(21 Suppl 1):S15-24. PMCID: 3908337.
  • Fogarasi A, Loddenkemper T, Mellado C, Tuxhorn I, Evers G, Sarco D, Burgess RC, Halasz P, Barsis P, Gyorsok Z, Gyimesi C, Kobor J, Siegler Z, Janszky J, Jakus R, Rasonyi G, Ebner A, Woermann FG, Sahin M. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz 2013;66(1-2):53-7. PMCID: N/A.
  • Fox SE, Wagner JB, Shrock CL, Tager-Flusberg H, Nelson CA. Neural processing of facial identity and emotion in infants at high-risk for autism spectrum disorders. Front Hum Neurosci 2013;7:89. PMCID: 3620489.
  • Fozzatti L, Kim DW, Park JW, Willingham MC, Hollenberg AN, Cheng SY. Nuclear receptor corepressor (NCOR1) regulates in vivo actions of a mutated thyroid hormone receptor alpha. Proc Natl Acad Sci U S A 2013;110(19):7850-5. PMCID: 3651436.
  • Freedman BD, Kempna PB, Carlone DL, Shah MS, Guagliardo NA, Barrett PQ, Gomez-Sanchez CE, Majzoub JA, Breault DT. Adrenocortical zonation results from lineage conversion of differentiated zona glomerulosa cells. Dev Cell 2013;26(6):666-73. PMCID: 3791142. Cores A and C.
  • Freiman M, Afacan O, Mulkern RV, Warfield SK. Improved multi B-value diffusion-weighted MRI of the body by simultaneous model estimation and image reconstruction (SMEIR). Med Image Comput Comput Assist Interv 2013;16(Pt 3):1-8. PMCID: 4029838.
  • Freiman M, Perez-Rossello JM, Callahan MJ, Bittman M, Mulkern RV, Bousvaros A, Warfield SK. Characterization of fast and slow diffusion from diffusion-weighted MRI of pediatric Crohn’s disease. J Magn Reson Imaging 2013;37(1):156-63. PMCID: 3527640. Core A.
  • Freiman M, Perez-Rossello JM, Callahan MJ, Voss SD, Ecklund K, Mulkern RV, Warfield SK. Reliable estimation of incoherent motion parametric maps from diffusion-weighted MRI using fusion bootstrap moves. Med Image Anal 2013;17(3):325-36. PMCID: 3606638. Core A.
  • Fulton AB, Hansen RM, Moskowitz A, Mayer DL. Normal and abnormal visual development. In: Hoyt CS, Taylor D, editors. Pediatric Ophthalmology and Strabismus: Expert Consult. 4th ed. Edinburgh: Elsevier/Saunders; 2013. p. 23-30.
  • Fulton AB, Moskowitz A, Hansen RM, Raghuram A. Assessment of retinal function using electrophysiology in infants and children. In: Hartnett ME, Trese M, Capone A, Jr., Keats BJB, Caputo G, editors. Pediatric Retina. 2nd ed. Philadelphia: Wolters Kluwer/Lippincott Williams & Wilkins; 2013.
  • Gaies MG, Langer M, Alexander J, Steil GM, Ware J, Wypij D, Laussen PC, Newburger JW, Goldberg CS, Pigula FA, Shukla AC, Duggan CP, Agus MS. Design and rationale of safe pediatric euglycemia after cardiac surgery: a randomized controlled trial of tight glycemic control after pediatric cardiac surgery. Pediatr Crit Care Med 2013;14(2):148-56. PMCID: 3477238.
  • Galler JR, Bryce CP, Waber DP, Zichlin ML, Fitzmaurice GM, Costa PT, Jr. Maternal depressive symptoms in childhood and openness to experience in adulthood. Imagin Cogn Pers 2013;33(1-2):151-63. PMCID: 4261157. Core A.
  • Galler JR, Bryce CP, Zichlin ML, Waber DP, Exner N, Fitzmaurice GM, Costa PT. Malnutrition in the first year of life and personality at age 40. J Child Psychol Psychiatry 2013;54(8):911-9. PMCID: 3686988. Core A.
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  • Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH. Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet 2013;93(6):1108-17. PMCID: 3852928. Cores A, C, and F.
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  • Kang PB. The new frontier of genetically targeted therapies for muscle disease. Continuum (Minneap Minn) 2013;19(6 Muscle Disease):1698-702. PMCID: N/A.
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  • Kinnaman KA, Mannix RC, Comstock RD, Meehan WP, 3rd. Management strategies and medication use for treating paediatric patients with concussions. Acta Paediatr 2013;102(9):e424-8. PMCID: N/A.
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  • Kobayashi DT, Shi J, Stephen L, Ballard KL, Dewey R, Mapes J, Chung B, McCarthy K, Swoboda KJ, Crawford TO, Li R, Plasterer T, Joyce C, Chung WK, Kaufmann P, Darras BT, Finkel RS, Sproule DM, Martens WB, McDermott MP, De Vivo DC, Walker MG, Chen KS, Pediatric Neuromuscular Clinical Research Network (with Sahin M). SMA-MAP: a plasma protein panel for spinal muscular atrophy. PLoS One 2013;8(4):e60113. PMCID: 3615018.
  • Kobayashi Y, Hensch TK. Germline recombination by conditional gene targeting with Parvalbumin-Cre lines. Front Neural Circuits 2013;7:168. PMCID: 3797395.
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  • Kurimoto T, Yin Y, Habboub G, Gilbert HY, Li Y, Nakao S, Hafezi-Moghadam A, Benowitz LI. Neutrophils express oncomodulin and promote optic nerve regeneration. J Neurosci 2013;33(37):14816-24. PMCID: 3771038. Cores A and C.
  • Landowski M, O’Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JMBeggs AH, Gleizes PE, Gazda HT. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia. Hum Genet 2013;132(11):1265-74. PMCID: PMC3797874. Core F.
  • Lawlor MW, Armstrong D, Viola MG, Widrick JJ, Meng H, Grange RW, Childers MK, Hsu CP, O’Callaghan M, Pierson CR, Buj-Bello A, Beggs AH. Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy. Hum Mol Genet 2013;22(8):1525-38. PMCID: 3605830. Core C.
  • Lee CH, Umemori H. Suppression of epileptogenesis-associated changes in response to seizures in FGF22-deficient mice. Front Cell Neurosci 2013;7:43. PMCID: 3629311.
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  • Lehtinen MK, Bjornsson CS, Dymecki SM, Gilbertson RJ, Holtzman DM, Monuki ES. The choroid plexus and cerebrospinal fluid: emerging roles in development, disease, and therapy. J Neurosci 2013;33(45):17553-9. PMCID: 3818536.
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  • Lewis WW, Sahin M, Scherrer B, Peters JM, Suarez RO, Vogel-Farley VK, Jeste SS, Gregas MC, Prabhu SP, Nelson CA, 3rdWarfield SK. Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. Cereb Cortex 2013;23(7):1526-32. PMCID: 3673171.
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  • Liew WK, Kang PB. Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy. Ther Adv Neurol Disord 2013;6(3):147-60. PMCID: 3625012.
  • Liew WK, Kang PB. Update on juvenile myasthenia gravis. Curr Opin Pediatr 2013;25(6):694-700. PMCID: N/A.
  • Lim HJ, Dimova NV, Tan MK, Sigoillot FD, King RW, Shi Y. The G2/M regulator histone demethylase PHF8 is targeted for degradation by the anaphase-promoting complex containing CDC20. Mol Cell Biol 2013;33(21):4166-80. PMCID: 3811896. Core E.
  • Lin PY, Roche-Labarbe N, Dehaes M, Carp S, Fenoglio A, Barbieri B, Hagan K, Grant PE, Franceschini MA. Non-invasive Optical Measurement of Cerebral Metabolism and Hemodynamics in Infants. J Vis Exp 2013(73):e4379. PMCID: 3639513.
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  • Liszewski MC, Hersman FW, Altes TA, Ohno Y, Ciet P, Warfield SK, Lee EY. Magnetic resonance imaging of pediatric lung parenchyma, airways, vasculature, ventilation, and perfusion: state of the art. Radiol Clin North Am 2013;51(4):555-82. PMCID: N/A.
  • Logan JW, Westra SJ, Allred EN, O’Shea TM, Kuban K, Paneth N, Leviton A. Antecedents of perinatal cerebral white matter damage with and without intraventricular hemorrhage in very preterm newborns. Pediatr Neurol 2013;49(2):88-96. PMCID: PMC Journal - In Process. Core A.
  • Loman MM, Johnson AE, Westerlund A, Pollak SD, Nelson CA, Gunnar MR. The effect of early deprivation on executive attention in middle childhood. J Child Psychol Psychiatry 2013;54(1):37-45. PMCID: 3519940.
  • Lou S, Duan B, Vong L, Lowell BB, Ma Q. Runx1 controls terminal morphology and mechanosensitivity of VGLUT3-expressing C-mechanoreceptors. J Neurosci 2013;33(3):870-82. PMCID: 3652638.
  • Lyst MJ, Ekiert R, Ebert DH, Merusi C, Nowak J, Selfridge J, Guy J, Kastan NR, Robinson ND, de Lima Alves F, Rappsilber J, Greenberg ME, Bird A. Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor. Nat Neurosci 2013;16(7):898-902. PMCID: 3786392. Core A.
  • Macaulay IC, Thon JN, Tijssen MR, Steele BM, MacDonald BT, Meade G, Burns P, Rendon A, Salunkhe V, Murphy RP, Bennett C, Watkins NA, He X, Fitzgerald DJ, Italiano JE, Jr., Maguire PB. Canonical Wnt signaling in megakaryocytes regulates proplatelet formation. Blood 2013;121(1):188-96. PMCID: 3538329.
  • Mackie AS, Alton GY, Dinu IA, Joffe AR, Roth SJ, Newburger JW, Robertson CM. Clinical outcome score predicts the need for neurodevelopmental intervention after infant heart surgery. J Thorac Cardiovasc Surg 2013;145(5):1248-54.e2. PMCID: N/A.
  • Magill JC, Ciccone NA, Kaiser UB. A mathematical model of pulse-coded hormone signal responses in pituitary gonadotroph cells. Math Biosci 2013;246(1):38-46. PMCID: 4096114.
  • Mahle WT, Lu M, Ohye RG, William Gaynor J, Goldberg CS, Sleeper LA, Pemberton VL, Mussatto KA, Williams IA, Sood E, Krawczeski CD, Lewis A, Mirarchi N, Scheurer M, Pasquali SK, Pinto N, Jacobs JP, McCrindle BW, Newburger JW. A predictive model for neurodevelopmental outcome after the Norwood procedure. Pediatr Cardiol 2013;34(2):327-33. PMCID: 3505274.
  • Mannix R, Meehan WP, Mandeville J, Grant PE, Gray T, Berglass J, Zhang J, Bryant J, Rezaie S, Chung JY, Peters NV, Lee C, Tien LW, Kaplan DL, Feany M, Whalen M. Clinical correlates in an experimental model of repetitive mild brain injury. Ann Neurol 2013;74(1):65-75. PMCID: PMC Journal - In Process.
  • Mannix R, O’Brien MJ, Meehan WP, 3rd. The epidemiology of outpatient visits for minor head injury: 2005 to 2009. Neurosurgery 2013;73(1):129-34; discussion 34. PMCID: N/A.
  • Marschik PB, Kaufmann WE, Sigafoos J, Wolin T, Zhang D, Bartl-Pokorny KD, Pini G, Zappella M, Tager-Flusberg H, Einspieler C, Johnston MV. Changing the perspective on early development of Rett syndrome. Res Dev Disabil 2013;34(4):1236-9. PMCID: 3605580.
  • Martin CR, Bellomy M, Allred EN, Fichorova RN, Leviton A. Systemic inflammation associated with severe intestinal injury in extremely low gestational age newborns. Fetal Pediatr Pathol 2013;32(3):222-34. PMCID: 4201234.
  • McAnulty G, Duffy FH, Kosta S, Weisenfeld NI, Warfield SK, Butler SC, Alidoost M, Holmes Bernstein J, Robertson R, Zurakowski D, Als H. School-age effects of the newborn individualized developmental care and assessment program for preterm infants with intrauterine growth restriction: preliminary findings. BMC Pediatr 2013;13(1):25. PMCID: 3600990. Core A.
  • McDermott JM, Troller-Renfree S, Vanderwert R, Nelson CA, Zeanah CH, Fox NA. Psychosocial deprivation, executive functions, and the emergence of socio-emotional behavior problems. Front Hum Neurosci 2013;7:167. PMCID: 3650621.
  • McDonald CM, Manji KP, Kupka R, Bellinger DC, Spiegelman D, Kisenge R, Msamanga G, Fawzi WW, Duggan CP. Stunting and wasting are associated with poorer psychomotor and mental development in HIV-exposed Tanzanian infants. J Nutr 2013;143(2):204-14. PMCID: 3542911.
  • McElrath TF, Allred EN, Van Marter L, Fichorova RN, Leviton A, ELGAN Study Investigators. Perinatal systemic inflammatory responses of growth-restricted preterm newborns. Acta Paediatr 2013;102(10):e439-42. PMCID: 3773878.
  • McMillan HJ, Kang PBJones HRDarras BT. Childhood chronic inflammatory demyelinating polyradiculoneuropathy: Combined analysis of a large cohort and eleven published series. Neuromuscul Disord 2013;23(2):103-11. PMCID: N/A.
  • Medvedovic J, Ebert A, Tagoh H, Tamir IM, Schwickert TA, Novatchkova M, Sun Q, Huis In ‘t Veld PJ, Guo C, Yoon HS, Denizot Y, Holwerda SJ, de Laat W, Cogne M, Shi Y, Alt FW, Busslinger M. Flexible long-range loops in the VH gene region of the Igh locus facilitate the generation of a diverse antibody repertoire. Immunity 2013;39(2):229-44. PMCID: N/A.
  • Meehan WP, 3rd, Lee LK, Fischer CM, Mannix RC. Bicycle helmet laws are associated with a lower fatality rate from bicycle-motor vehicle collisions. J Pediatr 2013;163(3):726-9. PMCID: 3755017.
  • Meehan WP, 3rd, Mannix RC, O’Brien MJ, Collins MW. The prevalence of undiagnosed concussions in athletes. Clin J Sport Med 2013;23(5):339-42. PMCID: 3758800.
  • Meehan WP, 3rd, Mannix RC, Stracciolini A, Elbin RJ, Collins MW. Symptom severity predicts prolonged recovery after sport-related concussion, but age and amnesia do not. J Pediatr 2013;163(3):721-5. PMCID: 3732501.
  • Mesirca P, Marger L, Toyoda F, Rizzetto R, Audoubert M, Dubel S, Torrente AG, Difrancesco ML, Muller JC, Leoni AL, Couette B, Nargeot J, Clapham DE, Wickman K, Mangoni ME. The G-protein-gated K+ channel, IKACh, is required for regulation of pacemaker activity and recovery of resting heart rate after sympathetic stimulation. J Gen Physiol 2013;142(2):113-26. PMCID: 3727310.
  • Miki K, Clapham DE. Rheotaxis guides mammalian sperm. Curr Biol 2013;23(6):443-52. PMCID: 3607503. Cores D and E.
  • Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM. Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Hum Mol Genet 2013;22(3):568-77. PMCID: PMC3606007. Cores C and F.
  • Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LMKang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord 2013;23(12):975-80. PMCID: 3851942. Core F.
  • Mitsuhashi S, Mitsuhashi H, Alexander MS, Sugimoto H, Kang PB. Cysteine mutations cause defective tyrosine phosphorylation in MEGF10 myopathy. FEBS Lett 2013;587(18):2952-7. PMCID: 3791867. Core F.
  • Mizeracka K, DeMaso CR, Cepko CL. Notch1 is required in newly postmitotic cells to inhibit the rod photoreceptor fate. Development 2013;140(15):3188-97. PMCID: PMC3931735.
  • Mizeracka K, Trimarchi JM, Stadler MB, Cepko CL. Analysis of gene expression in wild-type and Notch1 mutant retinal cells by single cell profiling. Dev Dyn 2013;242(10):1147-59. PMCID: PMC3882027.
  • Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH. Selenoprotein N deficiency in mice is associated with abnormal lung development. FASEB J 2013;27(4):1585-99. PMCID: 3606527. Core C.
  • Monje M, Thomason ME, Rigolo L, Wang Y, Waber DP, Sallan SE, Golby AJ. Functional and structural differences in the hippocampus associated with memory deficits in adult survivors of acute lymphoblastic leukemia. Pediatr Blood Cancer 2013;60(2):293-300. PMCID: 3612582.
  • Montaño CM, Irizarry RA, Kaufmann WE, Talbot K, Gur RE, Feinberg AP, Taub MA. Measuring cell-type specific differential methylation in human brain tissue. Genome Biol 2013;14(8):R94. PMCID: 4054676.
  • Mosammaparast N, Kim H, Laurent B, Zhao Y, Lim HJ, Majid MC, Dango S, Luo Y, Hempel K, Sowa ME, Gygi SP, Steen H, Harper JW, Yankner BShi Y. The histone demethylase LSD1/KDM1A promotes the DNA damage response. J Cell Biol 2013;203(3):457-70. PMCID: 3824007.
  • Mostayed A, Garlapati RR, Joldes GR, Wittek A, Roy A, Kikinis R, Warfield SK, Miller K. Biomechanical model as a registration tool for image-guided neurosurgery: evaluation against BSpline registration. Ann Biomed Eng 2013;41(11):2409-25. PMCID: 3939696.
  • Mrakotsky C, Forbes PW, Bernstein JH, Grand RJ, Bousvaros A, Szigethy E, Waber DP. Acute cognitive and behavioral effects of systemic corticosteroids in children treated for inflammatory bowel disease. J Int Neuropsychol Soc 2013;19(1):96-109. PMCID: 3947627.
  • Muniz JC, Dummer K, Gauvreau K, Colan SD, Fulton DR, Newburger JW. Coronary artery dimensions in febrile children without Kawasaki disease. Circ Cardiovasc Imaging 2013;6(2):239-44. PMCID: N/A.
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  • Rivkin MJ, Watson CG, Scoppettuolo LA, Wypij D, Vajapeyam S, Bellinger DC, Demaso DR, Robertson RL, Jr., Newburger JW. Adolescents with d-transposition of the great arteries repaired in early infancy demonstrate reduced white matter microstructure associated with clinical risk factors. J Thorac Cardiovasc Surg 2013;146(3):543-9.e1. PMCID: 3748216.
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  • Robison NJ, Prabhu SP, Sun P, Chi SN, Kieran MW, Manley PE, Cohen LE, Goumnerova L, Smith ER, Scott RM, London WB, Ullrich NJ. Predictors of neoplastic disease in children with isolated pituitary stalk thickening. Pediatr Blood Cancer 2013;60(10):1630-5. PMCID: N/A.
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  • Sagiv SK, Epstein JN, Bellinger DC, Korrick SA. Pre- and postnatal risk factors for ADHD in a nonclinical pediatric population. J Atten Disord 2013;17(1):47-57. PMCID: 3878902.
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  • Sah R, Mesirca P, Van den Boogert M, Rosen J, Mably J, Mangoni ME, Clapham DE. Ion channel-kinase TRPM7 is required for maintaining cardiac automaticity. Proc Natl Acad Sci U S A 2013;110(32):E3037-46. PMCID: 3740880.
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