Scientific Articles (pdfs)


Gutmann DH. The Sociobiology of Brain Tumors. Adv Exp Med Biol. 2020;1225:115-125. doi: 10.1007/978-3-030-35727-6_8. PMID: 32030651


Wong WH, Junck L, Druley TE, Gutmann DH. NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events. Neurology. 2019 Dec 10;93(24):1067-1069. doi: 10.1212/WNL.0000000000008623. Epub 2019 Nov 5. No abstract available. PMID: 31690684

Buonfiglioli A, Efe IE, Guneykaya D, Ivanov A, Huang Y, Orlowski E, Krüger C, Deisz RA, Markovic D, Flüh C, Newman AG, Schneider UC, Beule D, Wolf SA, Dzaye O, Gutmann DH, Semtner M, Kettenmann H, Lehnardt S. let-7 MicroRNAs Regulate Microglial Function and Suppress Glioma Growth through Toll-Like Receptor 7. Cell Rep. 2019 Dec 10;29(11):3460-3471.e7. doi: 10.1016/j.celrep.2019.11.029.

Zhang M, Bhat T, Gutmann DH, Johnson KJ. Melanoma in individuals with neurofibromatosis type 1: a retrospective study. Dermatol Online J. 2019 Nov 15;25(11). pii: 13030/qt5ck3f722. PMID: 32045143

Gutmann DH, Kettenmann H. Microglia/Brain Macrophages as Central Drivers of Brain Tumor Pathobiology. Neuron. 2019 Nov 6;104(3):442-449. doi: 10.1016/j.neuron.2019.08.028. Review. PMID: 31697921

Wright-Jin EC, Gutmann DH. Microglia as Dynamic Cellular Mediators of Brain Function. Trends Mol Med. 2019 Oct 6. pii: S1471-4914(19)30236-9. doi: 10.1016/j.molmed.2019.08.013. [Epub ahead of print] Review. PMID: 31597593

Buono FD, Grau LE, Sprong ME, Morford KL, Johnson KJ, Gutmann DH. Pain symptomology, functional impact, and treatment of people with Neurofibromatosis type 1. J Pain Res. 2019 Aug 22;12:2555-2561. doi: 10.2147/JPR.S209540. eCollection 2019. Review. PMID: 31692483

Gaudioso C, Listernick R, Fisher MJ, Campen CJ, Paz A, Gutmann DH. Neurofibromatosis 2 in children presenting during the first decade of life. Neurology. 2019 Jul 30. pii: 10.1212/WNL.0000000000008065. doi: 10.1212/WNL.0000000000008065. [Epub ahead of print] PMID: 31363058 

Widemann BC, Lu Y, Reinke D, Okuno SH, Meyer CF, Cote GM, Chugh R, Milhem MM, Hirbe AC, Kim A, Turpin B, Pressey JG, Dombi E, Jayaprakash N, Helman LJ, Onwudiwe N, Cichowski K, Perentesis JP. Targeting Sporadic and Neurofibromatosis Type 1 (NF1) Related Refractory Malignant Peripheral Nerve Sheath Tumors (MPNST) in a Phase II Study of Everolimus in Combination with Bevacizumab (SARC016). Sarcoma. 2019 Jul 24;2019:7656747. doi: 10.1155/2019/7656747. eCollection 2019. PMID:31427883

Qin W, Godec A, Zhang X, Zhu C, Shao J, Tao Y, Bu X, Hirbe AC. TYK2 promotes malignant peripheral nerve sheath tumor progression through inhibition of cell death. Cancer Med. 2019 Jul 6. doi: 10.1002/cam4.2386. [Epub ahead of print] PMID: 31278855 

Guo X, Pan Y, Gutmann DH. Genetic and genomic alterations differentially dictate low-grade glioma growth through cancer stem cell-specific chemokine recruitment of T cells and microglia. Neuro Oncol. 2019 May 3. pii: noz080. doi: 10.1093/neuonc/noz080. [Epub ahead of print] PMID: 31111915

Anastasaki C, Gao F, Gutmann DH. Commentary: Identification of Mutation Regions on NF1 Responsible for High- and Low-Risk Development of Optic Pathway Glioma in Neurofibromatosis Type I. Front Genet. 2019 Mar 1;10:115. doi: 10.3389/fgene.2019.00115. eCollection 2019. No abstract available. PMID: 30881378

Eby NS, Griffith JL, Gutmann DH, Morris SM. Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging. Dev Med Child Neurol. 2019 Jan 18. doi: 10.1111/dmcn.14144. [Epub ahead of print] PMID: 30659594

Anastasaki C, Rensing N, Johnson KJ, Wong M, Gutmann DH. Neurofibromatosis type 1 (Nf1)-mutant mice exhibit increased sleep fragmentation. J Sleep Res. 2019 Jan 4:e12816. doi: 10.1111/jsr.12816. [Epub ahead of print] PMID: 30609083


Durón C, Pan Y, Gutmann DH, Hardin J, Radunskaya A. Variability of Betweenness Centrality and Its Effect on Identifying Essential Genes. Bull Math Biol. 2018 Oct 22. doi: 10.1007/s11538-018-0526-z. [Epub ahead of print] PMID:30350013

Isakson SH, Rizzardi AE, Coutts AW, Carlson DF, Kirstein MN, Fisher J, Vitte J, Williams KB, Pluhar GE, Dahiya S, Widemann BC, Dombi E, Rizvi T, Ratner N, Messiaen L, Stemmer-Rachamimov AO, Fahrenkrug SC, Gutmann DH, Giovannini M, Moertel CL, Largaespada DA, Watson AL. Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. Commun Biol. 2018 Oct 2;1:158. doi: 10.1038/s42003-018-0163-y. eCollection 2018. PMID: 30302402

Lu HC, Eulo V, Apicelli AJ, Pekmezci M, Tao Y, Luo J, Hirbe AC, Dahiya S. Aberrant ATRX protein expression is associated with poor overall survival in NF1-MPNST. Oncotarget. 2018 May 1;9(33):23018-23028. doi: 10.18632/oncotarget.25195. eCollection 2018 May 1.

Griffith JL, Morris SM, Mahdi J, Goyal MS, Hershey T, Gutmann DH. Increased prevalence of brain tumors classified as T2 hyperintensities in neurofibromatosis 1. Neurol Clin Pract. 2018 Aug;8(4):283-291. doi: 10.1212/CPJ.0000000000000494.

Zessis NR, Gao F, Vadlamudi G, Gutmann DH, Hollander AS. Height Growth Impairment in Children With Neurofibromatosis Type 1 Is Characterized by Decreased Pubertal Growth Velocity in Both Sexes. J Child Neurol. 2018 Oct;33(12):762-766. doi: 10.1177/0883073818786807. Epub 2018 Jul 16. PMID: 30009646

Hirbe AC, Zhang X, Dahiya S, Godec A, Chrisinger J Tao Y, Luo J, Gutmann DH. β-III-spectrin immunohistochemistry as a potential diagnostic tool with high sensitivity for malignant peripheral nerve sheath tumors. Neuro Oncol. 2018 May 18;20(6):858-860. doi: 10.1093/neuonc/noy038.

Cimino PJ, Gutmann DH. Neurofibromatosis type 1. Handb Clin Neurol. 2018;148:799-811. doi: 10.1016/B978-0-444-64076-5.00051-X.

Campen CJ, Gutmann DH. Optic Pathway Gliomas in Neurofibromatosis Type 1. J Child Neurol. 2018 Jan;33(1):73-81. doi: 10.1177/0883073817739509.


Reilly KM, Kim A, Blakely J, Ferner RE, Gutmann DH, Legius E, Miettinen MM, Randall RL, Ratner N, Jumbé NL, Bakker A, Viskochil D, Widemann BC, Stewart DR. Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future. J Natl Cancer Inst. 2017 Aug 1;109(8). doi: 10.1093/jnci/djx124.

Vogel AC, Gutmann DH, Morris SM. Neurodevelopmental disorders in children with neurofibromatosis type 1. Dev Med Child Neurol. 2017 Nov;59(11):1112-1116. doi: 10.1111/dmcn.13526. Epub 2017 Aug 27. Review. PubMed PMID: 28845518.

Mahdi J, Shah AC, Sato A, Morris SM, McKinstry RC, Listernick R, Packer RJ,  Fisher MJ, Gutmann DH. A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1. Neurology. 2017 Apr 18;88(16):1584-1589. doi: 10.1212/WNL.0000000000003881. Epub 2017 Mar 22. PubMed PMID: 28330960; PubMed Central PMCID: PMC5395076.

Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ. Neurofibromatosis type 1. Nat Rev Dis Primers. 2017 Feb 23;3:17004. doi: 10.1038/nrdp.2017.4. Review. PubMed PMID: 28230061.

Monroe CL, Dahiya S, Gutmann DH. Dissecting Clinical Heterogeneity in Neurofibromatosis Type 1. Annu Rev Pathol. 2017 Jan 24;12:53-74. doi: 10.1146/annurev-pathol-052016-100228. Review. PubMed PMID: 28135565.

Toonen JA, Solga AC, Ma Y, Gutmann DH. Estrogen activation of microglia underlies the sexually dimorphic differences in Nf1 optic glioma-induced retinal pathology. J Exp Med. 2017 Jan;214(1):17-25. doi: 10.1084/jem.20160447. Epub 2016 Dec 6.

Hirbe AC, Kaushal M, Sharma MK, Dahiya S, Pekmezci M, Perry A, Gutmann DH. Clinical genomic profiling identifies TYK2 mutation and overexpression in patients with neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. Cancer. 2017 Apr 1;123(7):1194-1201. doi: 10.1002/cncr.30455. Epub 2016 Nov 22. PMID: 27875628


Johnson KJ, Zoellner NL, Gutmann DH. Peri-gestational risk factors for pediatric brain tumors in Neurofibromatosis Type 1. Cancer Epidemiol. 2016 Mar 25;42:53-59. doi: 10.1016/j.canep.2016.03.005. [Epub ahead of print]

Morris, SM, Acosta MR, Garg S, Green J, Huson S, Legius E, North KN, Payne JM, Plasschaert E, Frazier TW, Weiss LA, Zhang Y, Gutmann DH, Constantino JN, and the International NF1-ASD Consortium Team (INFACT). NF1 gene mutations engender the full spectrum of autism. JAMA Psychiatry. Oct. 19, 2016.

Morris SM, Monroe CL, Gutmann DH. Macrocephaly Is Not a Predictor of Optic Pathway Glioma Development or Treatment in Neurofibromatosis Type 1. Journal of Child Neurology. 2016 Aug 31. doi:10.1177/0883073816664659 [Epub ahead of print]

Porcelli B, Zoellner NL, Abadin SS, Gutmann DH, Johnson KJ. Associations between allergic conditions and pediatric brain tumors in Neurofibromatosis type 1. Fam Cancer. 2016 Apr;15(2):301-8. doi: 10.1007/s10689-015-9855-3.

Anderson DM, Van de Plas R, Rose KL, Hill S, Schey KL, Solga AC, Gutmann DH, Caprioli RM. 3-D imaging mass spectrometry of protein distributions in mouse Neurofibromatosis 1 (NF1)-associated optic glioma. J Proteomics. 2016 Feb 12. pii: S1874-3919(16)30027-6. doi: 10.1016/j.jprot.2016.02.004. [Epub ahead of print]

Baker SJ, Ellison DW, Gutmann DH. Pediatric gliomas as neurodevelopmental disorders. Glia. 2016 Jun;64(6):879-95.

Ceccarelli M, Barthel FP, Malta TM, Sabedot TS, Salama SR, Murray BA, Morozova O, Newton Y, Radenbaugh A, Pagnotta SM, Anjum S, Wang J, Manyam G, Zoppoli P, Ling S, Rao AA, Grifford M, Cherniack AD, Zhang H, Poisson L, Carlotti CG Jr, Tirapelli DP, Rao A, Mikkelsen T, Lau CC, Yung WK, Rabadan R, Huse J, Brat DJ, Lehman NL, Barnholtz-Sloan JS, Zheng S, Hess K, Rao G, Meyerson M, Beroukhim R, Cooper L, Akbani R, Wrensch M, Haussler D, Aldape KD, Laird PW, Gutmann DH; TCGA Research Network, Noushmehr H, Iavarone A, Verhaak RG. Molecular Profiling Reveals Biologically Discrete Subsets and Pathways of Progression in Diffuse Glioma. Cell. 164(3):550-63, 2016.

Chen YH, Cimino PJ, Luo J, Dahiya S, Gutmann DH. ABCG1 maintains high-grade glioma survival in vitro and in vivo. Oncotarget. 2016 Mar 10. doi: 10.18632/oncotarget.8030. [Epub ahead of print]

Gutmann DH. Exploring the genetic basis for clinical variation in neurofibromatosis type 1. Expert Rev Neurother. 2016 May 30:1-3. [Epub ahead of print] No abstract available.

Hambardzumyan D, Gutmann DH, Kettenmann H. The role of microglia and macrophages in glioma maintenance and progression. Nat Neurosci. 2016 Jan;19(1):20-7. 

Hirbe AC, Dahiya S, Friedmann-Morvinski D, Verma IM, Clapp DW, Gutmann DH. Spatially- and temporally-controlled postnatal p53 knockdown cooperates with embryonic Schwann cell precursor Nf1 gene loss to promote malignant peripheral nerve sheath tumor formation. Oncotarget. 2016 Feb 7. doi: 10.18632/oncotarget.7232. [Epub ahead of print]

Hirbe AC, Kaushal M, Sharma MK, Dahiya S, Pekmezci M, Perry A, Gutmann DH. Clinical genomic profiling identifies TYK2 mutation and overexpression in patients with neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. Cancer. 2016 Nov 22. doi: 10.1002/cncr.30455. [Epub ahead of print]

Li K, Turner AN, Chen M, Brosius SN, Schoeb TR, Messiaen LM, Bedwell DM, Zinn KR, Anastasaki C, Gutmann DH, Korf BR, Kesterson RA. Mice with missense and nonsense NF1 mutations display divergent phenotypes compared with human neurofibromatosis type I. Dis Model Mech. 2016 Jul 1;9(7):759-67. doi: 10.1242/dmm.025783. Epub 2016 Jun 2.

Schwetye KE, Joseph NM, Al-Kateb H, Rich KM, Schmidt RE, Perry A, Gutmann DH, Dahiya S. Gliosarcomas lack BRAFV600E mutation, but a subset exhibit β-catenin nuclear localization. Neuropathology. 2016 Mar 2. doi: 10.1111/neup.12293. [Epub ahead of print]

Smithson LJ, Anastasaki C, Chen R, Toonen JA, Williams SB, Gutmann DH. Contextual signaling in cancer. Semin Cell Dev Biol. 2016 Jun 3. pii: S1084-9521(16)30164-1. doi: 10.1016/j.semcdb.2016.06.002. [Epub ahead of print] Review.

 Smithson LJ, Gutmann DH. Proteomic analysis reveals GIT1 as a novel mTOR complex component critical for mediating astrocyte survival. Genes Dev. 2016 Jun 15;30(12):1383-8. doi: 10.1101/gad.279661.116.

 Toonen JA, Anastasaki C, Smithson LJ, Gianino SM, Li K, Kesterson RA, Gutmann DH. NF1 Germline Mutation Differentially Dictates Optic Glioma Formation and Growth in Neurofibromatosis-1. Hum Mol Genet. 2016 Feb 16. pii: ddw039. [Epub ahead of print]

Toonen JA, Ma Y, Gutmann DH. Defining the temporal course of murine neurofibromatosis-1 optic gliomagenesis reveals a therapeutic window to attenuate retinal dysfunction. Neuro Oncol. 2016 Dec 29. pii: now267. doi: 10.1093/neuonc/now267. [Epub ahead of print]

Zafar R, Hsiao EY, Botteron KN, McKinstry RC, Gutmann DH. De novo development of gliomas in a child with neurofibromatosis type 1, fragile X and previously normal brain magnetic resonance imaging. Radiol Case Rep. 2016 Feb 2;11(1):33-5.


Abadin SS, Zoellner NL, Schaeffer M, Porcelli B, Gutmann DH, Johnson KJ. Racial/Ethnic Differences in Pediatric Brain Tumor Diagnoses in Patients with Neurofibromatosis Type 1. J Pediatr. 167(3):613-620.e2, 2015

Anderson JL, Gutmann DH. Neurofibromatosis type 1. Handb Clin Neurol. 132:75-86, 2015.

Constantino JN, Zhang Y, Holzhauer K, Sant S, Long K, Vallorani A, Malik L, Gutmann DH. Distribution and Within-Family Specificity of Quantitative Autistic Traits in Patients with Neurofibromatosis Type 1. J Pediatr. 167(3):621-626.e1, 2015.

Liu Q, Zoellner N, Gutmann DH, Johnson KJ. Parental Age and Neurofibromatosis Type 1: a report from the NF1 Patient Registry Initiative. Fam Cancer. 14(2):317-24, 2015.

Madubata CC, Olsen MA, Stwalley DL, Gutmann DH, Johnson KJ. Neurofibromatosis type 1 and chronic neurological conditions in the United States: an administrative claims analysis. Genet Med. 17(1):36-42, 2015.

Porcelli B, Zoellner NL,  Abadin SS, Gutmann DH, Johnson KJ. Associations between allergic conditions and pediatric brain tumors in Neurofibromatosis type 1. Fam Cancer. Epub ahead of print, 2015.

Sharkey EK, Zoellner NL, Abadin S, Gutmann DH, Johnson KJ. Validity of participant-reported diagnoses in an online patient registry: A report from the NF1 Patient Registry Initiative. Contemp Clin Trials. 40:212-7, 2015.

Soucy EA, Wessel LE, Gao F, Albers AC, Gutmann DH, Dunn CM. A pilot study for evaluation of hypotonia in children with neurofibromatosis type 1. J Child Neurol. 30(3):382-5, 2015.

Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher MJ. Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium Phase II Study. Neuro Oncol. 17(4):596-603, 2015.

Ackerman SD, Garcia C, Piao X, Gutmann DH, Monk KR. The adhesion GPCR Gpr56 regulates oligodendrocyte development via interactions with Gα12/13 and RhoA. Nat Commun. 6:6122, 2015.

Anastasaki C, Woo AS, Messiaen LM, Gutmann DH. Elucidating the impact of neurofibromatosis-1 germline mutations on neurofibromin function and dopamine-based learning. Hum Mol Genet. 24(12):3518-28, 2015.

Bender RH, Haigis KM, Gutmann DH. Activated K-Ras, but not H-Ras or N-Ras, regulates brain neural stem cell proliferation in a Raf/Rb-dependent manner. Stem Cells. 33(6):1998-2010, 2015.

Brossier NM, Gutmann DH. Improving outcomes for neurofibromatosis 1-associated brain tumors. Expert Rev Anticancer Ther. 15(4):415-23, 2015.

Chen YH, Gianino SM, Gutmann DH. Neurofibromatosis-1 regulation of neural stem cell proliferation and multilineage differentiation operates through distinct RAS effector pathways. Genes Dev. 29(16):1677-82, 2015.

Chen YH, McGowan LDA, Cimino PJ, Dahiya S, Leonard JR, Lee DY, Gutmann DH. Mouse low-grade gliomas contain cancer stem cells with unique molecular and functional properties. Cell Rep. 29(16):1677-82, 2015.

Epstein JA, Ingram DA Jr, Hirbe AC, Gutmann DH. A multidisciplinary approach in neurofibromatosis 1–author’s reply. Lancet Neurol. 14(1):30-1, 2015.

Gutmann DH. Microglia in the tumor microenvironment: taking their TOLL on glioma biology. Neuro Oncol. 17(2):171-3, 2015.

Hambardzumyan D, Gutmann DH, Kettenmann H. The role of microglia and macrophages in glioma maintenance and progression. Nat Neurosci. 19(1):20-7, 2015.

Hirbe AC, Dahiya S, Miller CA, Li T, Fulton RS, Zhang X, McDonald S, DeSchryver K, Duncavage EJ, Walrath J, Reilly KM, Abel HJ, Pekmezci M, Perry A, Ley TJ, Gutmann DH. Whole Exome Sequencing Reveals the Order of Genetic Changes during Malignant Transformation and Metastasis in a Single Patient with NF1-plexiform Neurofibroma. Clin Cancer Research. 21(18):4201-11, 2015.

Kaul A, Toonen JA, Cimino PJ, Gianino SM, Gutmann DH. Akt- or MEK-mediated mTOR inhibition suppresses Nf1 optic glioma growth. Neuro Oncol. 17(6):843-53, 2015.

Kaul A, Toonen JA, Gianino SM, Gutmann DH. The impact of coexisting genetic mutations on murine optic glioma biology. Neuro Oncol. 17(5):670-7, 2015.

Omrani A, van der Vaart T, Mientjes E, van Woerden GM, Hojjati MR, Li KW, Gutmann DH, Levelt CN, Smit AB, Silva AJ, Kushner SA, Elgersma Y. HCN channels are a novel therapeutic target for cognitive dysfunction in Neurofibromatosis type 1. Mol Psychiatry. 20(11):1311-21, 2015.

Pekmezci M, Reuss DE, Hirbe AC, Dahiya S, Gutmann DH, von Deimling A, Horvai AE, Perry A. Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas. Mod Pathol. 28(2):187-200, 2015.

Rauen KA, Huson SM, Burkitt-Wright E, Evans DG, Farschtschi S, Ferner RE, Gutmann DH, Hanemann CO, Kerr B, Legius E, Parada LF, Patton M, Peltonen J, Ratner N, Riccardi VM, van der Vaart T, Vikkula M, Viskochil DH, Zenker M, Upadhyaya M. Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues. Am J Med Genet A. 167A(1):1-10, 2015.

Solga AC, Pong WW, Kim KY, Cimino PJ, Toonen JA, Walker J, Wylie T, Magrini V, Griffith M, Griffith OL, Ly A, Ellisman MH, Mardis ER, Gutmann DH. RNA Sequencing of Tumor-Associated Microglia Reveals Ccl5 as a Stromal Chemokine Critical for Neurofibromatosis-1 Glioma Growth. Neoplasia. 17(10):776-88, 2015.

Solga AC, Pong WW, Walker J, Wylie T, Magrini V, Apicelli AJ, Griffith M, Griffith OL, Kohsaka S, Wu GF, Brody DL, Mardis ER, Gutmann DH. RNA-sequencing reveals oligodendrocyte and neuronal transcripts in microglia relevant to central nervous system disease. Glia. 63(4):531-48, 2015.

Warrington NM, Sun T, Luo J, McKinstry RC, Parkin PC, Ganzhorn S, Spoljaric D, Albers AC, Merkelson A, Stewart DR, Stevenson DA, Viskochil D, Druley TE, Forys JT, Reilly KM, Fisher MJ, Tabori U, Allen JC, Schiffman JD, Gutmann DH, Rubin JB. The Cyclic AMP Pathway is a Sex-Specific Modifier of Glioma Risk in Type 1 Neurofibromatosis Patients. Cancer Res. 75(1):16-21, 2015.

Weiss B, Widemann BC, Wolters P, Dombi E, Vinks A, Cantor A, Perentesis J, Schorry E, Ullrich N, Gutmann DH, Tonsgard J, Viskochil D, Korf B, Packer RJ, Fisher MJ. Sirolimus for progressive neurofibromatosis type 1-associated plexiform neurofibromas: a Neurofibromatosis Clinical Trials Consortium phase II study. Neuro Oncol. 17(4):596-603, 2015.


Fisher MJ, Loguidice M, Gutmann DH, Listernick R, Ferner RE, Ullrich NJ, Packer RJ, Tabori U, Hoffman RO, Ardern-Holmes SL, Hummel TR, Hargrave DR, Bouffet E, Charrow J, Bilaniuk LT, Balcer LJ, D’Agostino McGowan L, Liu GT. Gender as a disease modifier in neurofibromatosis type 1 optic pathway glioma. Ann Neurol. 75(5):799-800, 2014.

Gutmann DH. Eliminating barriers to personalized medicine: learning from neurofibromatosis type 1. Neurology. 83(5):463-71, 2014.

Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 13(8):834-43, 2014.

Hirbe AC, Pekmezci M, Dahiya S, Apicelli AJ, Van Tine BA, Perry A, Gutmann DH. BRAFV600E mutation in sporadic and neurofibromatosis type 1–related malignant peripheral nerve sheath tumors. Neuro Oncol. 16(3):466-7, 2014.

Johnson KJ, Mueller NL, Williams K, Gutmann DH. Evaluation of participant recruitment methods to a rare disease online registry. Am J Med Genet A. 164(7):1686-94, 2014.

Kumar MG, Emnett RJ, Bayliss SJ, Gutmann DH. Glomus tumors in individuals with neurofibromatosis type 1. J Am Acad Dermatol. 71(1):44-8, 2014.

Schwetye KE, Gutmann DH. Cognitive and behavioral problems in children with neurofibromatosis type 1: challenges and future directions. Expert Rev Neurother. 14(10):1139-52, 2014.

Weiss B, Widemann BC, Wolters P, Dombi E, Vinks AA, Cantor A, Korf B, Perentesis J, Gutmann DH, Schorry E, Packer R, Fisher MJ. Sirolimus for non-progressive NF1-associated plexiform neurofibromas: an NF Clinical Trials Consortium Phase II Study. Pediatr Blood Cancer. 61(6):982-6, 2014.

Anastasaki C, Gutmann DH. Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC activation. Hum Mol Genet. 23(25):6712-21, 2014.

Dahiya S, Emnett RJ, Haydon DH, Leonard JR, Phillips JJ, Perry A, Gutmann DH. BRAF-V600E mutation in pediatric and adult glioblastoma. Neuro Oncol. 16: 318-9, 2014.

Diggs-Andrews KA, Brown JA, Gianino SM, Rubin JB, Wozniak DF, Gutmann DH. Sex is a major determinant of neuronal dysfunction in neurofibromatosis type 1. Ann Neurol. 75(2):309-16, 2014.

Garcia C, Gutmann DH. Nf2/Merlin controls spinal cord neural progenitor function in a Rac1/ErbB2-dependent manner. PLoS One. 9(5):e97320, 2014.

Garcia C, Gutmann DH. Using the neurofibromatosis tumor predisposition syndromes to understand normal nervous system development. Scientifica (Cairo). 2014; doi:10.1155/2014/915725.

Gavilan HS, Kulikauskas RM, Gutmann DH, Fehon RG. In vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila. PLoS One. 9(3):e90853, 2014.

Gutmann DH. NF GEMMs Already! The Power and promise of mouse tumor models. Cancer Cell. 26(5):596-9, 2014.

Gutmann DH. The taxonomy of brain cancer stem cells: what’s in a name? Oncoscience. 1(3):241-7, 2014.

Hirbe AC, Pekmezci M, Dahiya S, Apicelli AJ, Van Tine BA, Perry A Gutmann DH. BRAFV600E mutation in sporadic and neurofibromatosis type 1-related malignant peripheral nerve sheath tumors. Neuro Oncol. 16:466-7, 2014.

Huang YC, Wei KC, Chang CN, Chen PY, Hsu PW, Chen CP, Lu CS, Wang HL, Gutmann DH, Yeh TH. Transglutaminase 2 expression is increased as a function of malignancy grade and negatively regulates cell growth in meningioma. PLoS One. 9(9):e108228, 2014.

Kuchenreuther MJ, Weber JD. The ARF tumor-suppressor controls Drosha translation to prevent Ras-driven transformation. Oncogene. 33: 300-7, 2014.

Pekmezci M, Reuss DE, Hirbe AC, Dahiya S, Gutmann DH, von Deimling A, Horvai AE, Perry A. Morphologic and immunohistochemical features of malignant peripheral nerve sheath tumors and cellular schwannomas. Mod Pathol. 10.1038/modpathol.2014.109, 2014.

Plotkin SR, Albers AC, Babovic-Vuksanovic D, Blakeley JO, Breakefield XO, Dunn CM, Evans DG, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Kalamarides M, McClatchey AI, Messiaen L, Morrison H, Parkinson DB, Stemmer-Rachamimov AO, Van Raamsdonk CD, Riccardi VM, Rosser T, Schindeler A, Smith MJ, Stevenson DA, Ullrich NJ, van der Vaart T, Weiss B, Widemann BC, Zhu Y, Bakker AC, Lloyd AC. Update from the 2013 International Neurofibromatosis Conference. Am J Med Genet A. 164a(12):2969-78, 2014.

Solga AC, Gianino SM, Gutmann DH. NG2 cells are not the cell of origin for murine neurofibromatosis-1 (Nf1) optic glioma. Oncogene. 33: 289-99, 2014.


Fisher MJ, Avery RA, Allen JC, Ardern-Holmes SL, Bilaniuk LT, Ferner RE, Gutmann DH, Listernick R, Martin S, Ullrich NJ, Liu GT, REiNS International Collaboration. Functional outcome measures for NF1-associated optic pathway glioma clinical trials. Neurology. 81(21 Suppl 1):S15-24, 2013.

Isenberg JC, Templer A, Gao F, Titus JB, Gutmann DH. Attention skills in children with neurofibromatosis type 1. J. Child Neurol. 28: 45-9, 2013.

Johnson KJ, Hussain I, Williams K, Santerns R, Mueller NL, Gutmann DH. Development of an international internet-based neurofibromatosis type 1 patient registry. Contemp Clin Trials. 34: 305-11, 2013.

Licis AK, Vallorani A, Gao F, Chen C, Lenox J, Yamada KA, Duntley SP, Gutmann DH. Prevalence of sleep disturbances in children with neurofibromatosis type 1. J. Child Neurol. 28: 1400-5, 2013.

Ostendorf AP, Gutmann DH, Weisenberg JLZ. Epilepsy in individuals with neurofibromatosis type 1. Epilepsia. 54: 1810-4, 2013.

Schwartz GK, Tap WD, Qin LX, Livingston MB, Undevia SD, Chmielowski B, Agulnik M, Schuetze SM, Reed DR, Okuno SH, Ludwig JA, Keedy V, Rietschel P, Kraft AS, Adkins D, Van Tine BA, Brockstein B, Yim V, Bitas C, Abdullah A, Antonescu CR, Condy M, Dickson MA, Vasudeva SD, Ho AL, Doyle LA, Chen HX, Maki RG. Cixutumumab and temsirolimus for patients with bone and soft-tissue sarcoma: A mulitcenter, open-label, phase 2 trial. Lancet Oncol. 14: 371-82, 2013.

Soucy EA, van Oppen D, Nejedly NL, Gao F, Gutmann DH, Hollander AS. Height assessments in children with neurofibromatosis type 1. J. Child Neurol. 28: 303-7, 2013.

Templer AK, Titus JB, Gutmann DH. A neuropsychological perspective on attention problems in neurofibromatosis type 1. J Attention Disorders. 17: 489-96, 2013.

Wessel LE, Albers AC, Gutmann DH, Dunn CM. The association between hypotonia and brain tumors in children with neurofibromatosis type 1. J. Child Neurol. 28: 1664-7, 2013.

Wessel LE, Gao F, Gutmann DH, Dunn CM. Longitudinal analysis of developmental delays in children with neurofibromatosis type 1. J Child Neurol. 28: 1689-93, 2013.

Diggs-Andrews KA, Gutmann, DH. Modeling cognitive dysfunction in neurofibromatosis-1. Trends Neurosci. 36: 237-47, 2013.

Gutmann DH, Blakeley JO, Korf BR, Packer RJ. Optimizing biologically targeted clinical trials for neurofibromatosis. Expert Opin Investig Drugs. 22: 443-62, 2013.

Gutmann DH, McLellan MD, Hussain I, Wallis JW, Fulton LL, Fulton RS, Magrini V, Demeter R, Wylie T, Kandoth C, Leonard JR, Guha A, Miller CA, Ding L, Mardis ER. Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma. Genome Res. 23: 431-9, 2013.

Kaul A, Chen Y-H, Emnett RJ, Gianino SM, Gutmann DH. Conditional KIAA1549:BRAF mice reveal brain region- and cell type-specific effects. Genesis. 51: 708-16, 2013.

Maggi LB Jr, Weber JD. Forget transcription: Translation is where the action is. Mol Cell Biol. 33: 1884-5, 2013.

Pong WW, Walker J, Wylie T, Margrini V, Luo J, Emnett RJ, Choi J, Cooper ML, Griffith M, Griffith OL, Rubin JB, Fuller GN, Piwnica-Worms D, Feng X, Hambardzumyan D, Dipersio JF, Mardis ER, Gutmann DH. F11R is a novel monocyte prognostic biomarker for malignant glioma. PLoS ONE. 8:e77571, 2013.

Schulz A, Baader SL, Niwa-Kawakita M, Jung MJ, Baur R, Garcia C, Zoch A, Schacke S, Hagel C, Mautner VF, Hanemann CO, Dun XP, Parkinson DB, Weis J, Schroder JM, Gutmann DH, Giovanni M, Morrison H. Merlin isoform 2 in neurofibromatosis type 2-associated polyneuropathy. Nat Neurosci. 16: 426-33, 2013.


Blasberg R, Piwnica-Worms D. Imaging: Strategies, controversies, and opportunities. Clin Cancer Res. 18: 631-7, 2012.

Fisher MJ, Logudice M, Gutmann DH, Listernick R, Ferner RE, Ullrich NJ, Packer RJ, Tabori U, Hoffman RO, Ardern-Holmes SL, Hummel TR, Hargrave DR, Bouffet E, Charrow J, Bilaniuk LT, Balcer LJ, Liu GT. Visual outcomes in children with neurofibromatosis type 1-associated optic pathway glioma following chemotherapy: A mulitcenter retrospective analysis. Neuro Oncol. 14: 790-7, 2012.

Johnson KJ, Fisher MJ, Listernick RL, North KN, Schorry EK, Viskochil D, Weinstein M, Rubin JB, Gutmann DH. Parent-of-origin in individuals with familial neurofibromatosis type 1 and optic pathway gliomas. Fam Cancer. 4: 653-6, 2012.

Soucy EA, Gao F, Gutmann DH, Dunn CM: Developmental delays in children with neurofibromatosis type 1. J Child Neurol. 27: 641-4, 2012.

Acosta MT, Bearden CE, Castellanos FX, Cutting L, Elgersma Y, Gioia G, Gutmann DH, Lee YS, Legius E, Muenke M, North K, Parada LF, Ratner N, Hunter-Schaedle K, Silva AJ. The learning disabilits network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research. Med Genet A. 158A: 2225-32, 2012.

Brown JA, Diggs-Andrews KA, Gianino SM, Gutmann DH. Neurofibromatosis-1 heterozygosity impairs CNS neuronal morphology in a cAMP/PKA/ROCK-dependent manner.  Molecular and Cellular Neuroscience. 49:13-22, 2012.

Diggs-Andrews KA, Tokuda K, Izumi Y, Zorumski CF, Wozniak DF, Gutmann DH. Dopamine deficiency underlies learning deficits in neurofibromatosis-1 mice. Ann Neurol. (in press)

Gutmann DH, Parada LF, Silva AJ, Ratner N. Neurofibromatosis type 1: Modeling CNS dysfunction. J Neurosci. 32: 14087-93, 2012.

Lee DY, Gianino SM, Gutmann DH. Innate neural stem cell heterogeneity determines the patterning of glioma formation in children. Cancer Cell. 22: 131-8, 2012.

Miceli AP, Saporita AJ, Weber JD. Hypergrowth mTORC1 signals translationally activate the ARF tumor suppressor checkpoint. Mol Cell Biol. 32: 348-64, 2012.

Piwnica-Worms D. On in vivo imaging in cancer. Perspect Biol. 4, 2012.

Pong WW, Higer SB, Gianino SM, Emnett RJ, Gutmann DH. Reduced microglial CX3CR1 expression delays neurofibromatosis-1 glioma formation. Ann Neurol. 73: 303-8, 2012

Rao S, Sengupta R, Choe EJ, Woerner BM, Jackson E, Sun T, Leonard J, Piwnica-Worms D, Rubin JB. CXCL12 mediates trophic interactions between endothelial and tumor cells in glioblastoma. PLoS One. 7(3):e33005, 2012.

Sun T, Warrington NM, Rubin JB: Why does Jack, and not Jill, break his crown? Sex disparity in brain tumors. Biol Sex Differ. 25;3:3, 2012.

Weber JD, Gutmann DH. Deconvoluting mTOR biology. Cell Cycle. 11: 236-48, 2012.

Woerner BM, Luo J, Brown KR, Jackson E, Dahiya SM, Mischel P, Benovic JL, Piwnica-Worms D, Rubin JB. Suppression of G-protein-coupled receptor kinase 3 expression is a feature of classical GBM that is required for maximal growth. Mol Cancer Res. 10(1):156-66, 2012.

Xu Z, Joshi N, Agarwal A, Dahiya S, Bittner P, Smith E, Taylor S, Piwnica-Worms D, Weber J, Leonard JR. Knocking down nucleolin expression in gliomas inhibits tumor growth and induces cell cycle arrest. J Neurooncol. 108(1):59-67, 2012.


Dorward IG, Luo J, Perry A, Gutmann DH, Mansur DB, Rubin JB, Leonard JR. Postoperative imaging surveillance in pediatric pilocytic strocytomas. J Neurosurg Pediatr, 6: 346-52, 2011.

Gutmann DH, Listernick R, Ferner RE: Screening for symptomatic optic pathway glioma in children with neurofibromatosis type 1. (letter) Eye. 25:818, 2011.

Banerjee S, Crouse NR, Emnett RJ, Gianino SM, Gutmann DH: Neurofibromatosis-1 regulates mTOR-mediated astrocyte growth and glioma formation in a TSC/Rheb-independent manner. Proc Natl Acad Sci USA 108:15996-6001, 2011.

Banerjee S, Gianino SM, Gao F, Christians U, Gutmann DH: Interpreting mammalian target of rapamycin and cell growth inhibition in a genetically-engineered mouse model of Nf1-deficient astrocytes. Mol Cancer Ther 10:279-91, 2011.

Brown JA, Xu J, Diggs-Andrews KA, Wozniak DF, Mach RH, Gutmann DH. PET imaging for attention deficit preclinical drug testing in neurofibromatosis-1 mice. Exp Neurol 232:333-8, 2011.

Crouse NR, Dahiya S, Gutmann DH. Rethinking Pediatric Gliomas as Developmental Brain Abnormalities. Current Topics in Developmental Biology 94:283-308, 2011.

Dahiya S, Lee DY, Gutmann DH. Comparative characterization of the human and mouse third ventricle germinal zones. J Neuropathol Exp Neurol. 70:622-33, 2011.

Deshmukh H, Yu J, Shaik J, MacDonald TJ, Perry A, Payton JE, Gutmann DH, Watson MA, Nagarajan R. Identification of transcriptional regulatory networks specific to pilocytic astrocytoma. BMC Genomics 4:57-64, 2011.

Kalamarides M, Stemmer-Rachamimov AO, Niwa-Kawakati M, Chareyre F, Clermont E, Han Z-Y, Martinelli C, Lusis EA, Hegedus B, Gutmann DH, Giovannini M. Identification of a progenitor cell or origin capable of generating diverse meningioma histologic subtypes.  Oncogene 30:2333-44, 2011.

Payton JE, Schmidt J, Yu J, Lusis EA, Watson MA, Gutmann DH. Genome-wide polymorphism analysis demonstrates a monoclonal origin of pilocytic astrocytoma. Neuropathology and Applied Neurobiology 37:321-5, 2011.

Pong WW, Gutmann DH. The ecology of brain tumors: Lessons learned from neurofibromatosis-1. Oncogene 30:1135-46, 2011.

Simmons GW, Pong WW, Emnett RJ, White CR, Gianino SM, Rodriguez FJ, Gutmann DH. Neurofibromatosis-1 heterozygosity increases microglia in a spatially- and temporally-restricted pattern relevant to mouse optic glioma formation and growth.  J Neuropathol Exp Neurol.  70:51-62, 2011.

Stuart JE, Lusis EA, Scheck AC, Coons SW, Lal A, Perry A, Gutmann DH. Identification of gene markers associated with aggressive meningioma by filtering across multiple sets of gene expression arrays. J Neuropathol Exp Neurol.  70:1-12, 2011.

Yu J, Deshmukh H, Payton JE, Dunham C, Scheithauer BW, Tihan T, Prayson RA, Guha A, Bridge JA, Ferner RE, Linberg GM, Gutmann RJ, Emnett RJ, Salavaggione L, Gutmann DH, Nagarajan R, Watson MA, Perry A. Array-based comparative genomic hybridization identifies CDK4 and FOXM1 alterations as independent predictors of survival in malignant peripheral nerve sheath tumor. Clin Cancer Res 17:1924-34, 2011.

Zhan Y, Modi N, Stewart AM, Hieronimus RL, Liu J, Gutmann DH, Chadee DN. Regulation of Mixed Lineage Kinase 3 is Required for Neurofibromatosis-2-Mediated Growth Suppression in Human Cancer. Oncogene 30:781-9, 2011.


Banerjee S, Byrd JN, Gianino SM, Harpstrite SE, Rodriguez FJ, Tuskan RG, Reilly KM, Piwnica-Worms DR, Gutmann DH. Neurofibromin controls cell growth by regulating STAT3 activity in vitro and in vivo. Cancer Res. 70:1356-66, 2010.

Bhola P, Banerjee S, Mukherjee J, Balasubramanium A, Arun V, Karim Z, Burrell K, Croul S, Gutmann DH, Guha A. Preclinical in vivo evaluation of rapamycin in human malignant peripheral nerve sheath tumor explant xenografts. Int J Cancer. 126:563-71, 2010.

Brown JA, Emnett RJ, White C, Yuede C, Conyers S, O’Malley K, Wozniak DF, Gutmann DH. Reduced striatal dopamine underlies the attention system dysfunction in neurofibromatosis-1 mutant mice.  Human Mol Genet. 19:4515-28, 2010.

Brown JA, Gianino SM, Gutmann DH. Defective cyclic AMP generation underlies the sensitivity of central nervous system neurons to neurofibromatosis-1 heterozygosity. J Neurosci. 30:5579-89, 2010.

Claus EB, Abdel-Wahab M, Burger PC, Engelhard HH, Ellison DW, Gaiano N, Gutmann DH, Heck D, Holland EC, Jallo GI, Kruchko C, Kun LE, Maria BL, Rumbolt Z, Spinella GM, Stophel L, Wechsler-Reya R, Wrensch M, Gilbertson RJ. Defining Future Directions in Spinal Cord Tumor Research: National Institutes of Health Workshop Report. J Neurosurg Spine. 12:117-121, 2010.

Dorward IG, Luo J, Perry A, Gutmann DH, Mansur DB, Rubin JB, Leonard JR. Post-operative imaging surveillance in pediatric pilocytic astrocytomas.  J Neurosurg. Ped. 6:346-52, 2010.

Kim KY, Ju WK, Hegedus B, Gutmann DH, Ellisman ME: Ultrastructural Characterization of the Optic Pathway in a Mouse Model of Neurofibromatosis-1 Optic Glioma. Neuroscience. 170: 178-88, 2010.

Lee DY, Yeh T-H, Emnett RJ, White CR, Gutmann DH. Neurofibromatosis-1 regulates neuroglial progenitor proliferation and glial differentiation in a brain region-specific manner.  Genes & Development 24:2317-29, 2010.

Rauen KA, Schoyer L, McCormick F, Lin AE, Allanson JE, Stevenson DA, Gripp KW, Neri G, Carey JC, Legius E, Tartaglia M, Schubbert S, Robert AE, Gelb BD, Shannon K, Gutmann DH, McMahon M, Guerra MC, Fagin JA, Yu B, Aoki Y, Neel BG, Balmain A, Drake DR, Nolan GP, Zenker M, Bollag G, Sebolt-Leopold J, Gibbs JB, Silva AJ, Patton EE, Viskochil DH, Kieran MW, Korf BR, Hagerman RJ, Packer RJ, Melese T: Proceedings from Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back 2009. Am J Med Genet A 152A:4-24, 2010.

Schiffman JD, Hodgson JG, Vandenberg SR, Flaherty P, Polley M-YC, Yu M, Fisher PG, Rowitch DH, Ford JM, Berger MS, Ji H, Gutmann DH, James CD: Combined oncogenic BRAF mutation and CDKN2A inactivation is characteristic of a subset of pediatric malignant astrocytomas. Cancer Res 70:512-519, 2010.

Sun T, Gianino SM, Jackson E, Piwnica-Worms D, Gutmann DH, Rubin JB. CXCL12 alone is insufficient for gliomagenesis in Nf1 mutant mice. J. Neuroimmunol. 224: 108-31, 2010.

Warrington NM, Gianino SM, Jackson E, Goldhoff P, Garbow JR, Piwnica-Worms D, Gutmann DH, Rubin JB. Cyclic AMP suppression is sufficient to induce gliomagenesis in a mouse model of neurofibromatosis-1. Cancer Res. 70: 5717-27, 2010.