Clinical Research

Ullrich NJ, Prabhu SP, Reddy AT, Fisher MJ, Packer R, Goldman S, Robison NJ, Gutmann DH, Viskochil DH, Allen JC, Korf B, Cantor A, Cutter G, Thomas C, Perentesis JP, Mizuno T, Vinks AA, Manley PE, Chi SN, Kieran MW. A phase II study of continuous oral mTOR inhibitor everolimus for recurrent, radiographic-progressive neurofibromatosis type 1-associated pediatric low-grade glioma: a Neurofibromatosis Clinical Trials Consortium study. Neuro Oncol. 2020 Oct 14;22(10):1527-1535. doi: 10.1093/neuonc/noaa071. PMID: 32236425; PMCID: PMC7566451.

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 61:972-978, 2019. PMID: 30659594

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. PMID: 30881378; PMCID: PMC6405421.

Ramirez E, Morris SM, Turner TN, Gutmann DH. Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation. Neurol Genet. 2021 Mar 26;7(3):e582. doi: 10.1212/NXG.0000000000000582. PMID: 33884301; PMCID: PMC8054955.

Packer RJ, Iavarone A, Jones DTW, Blakeley JO, Bouffet E, Fisher MJ, Hwang E, Hawkins C, Kilburn L, MacDonald T, Pfister SM, Rood B, Rodriguez FJ, Tabori U, Ramaswamy V, Zhu Y, Fangusaro J, Johnston SA, Gutmann DH. Implications of new understandings of gliomas in children and adults with NF1: report of a consensus conference. Neuro Oncol. 2020 Jun 9;22(6):773-784. doi: 10.1093/neuonc/noaa036. PMID: 32055852; PMCID: PMC7283027.

Fisher MJ, Jones DTW, Li Y, Guo X, Sonawane PS, Waanders AJ, Phillips JJ, Weiss WA, Resnick AC, Gosline S, Banerjee J, Guinney J, Gnekow A, Kandels D, Foreman NK, Korshunov A, Ryzhova M, Massimi L, Gururangan S, Kieran MW, Wang Z, Fouladi M, Sato M, Øra I, Holm S, Markham SJ, Beck P, Jäger N, Wittmann A, Sommerkamp AC, Sahm F, Pfister SM, Gutmann DH. Integrated molecular and clinical analysis of low-grade gliomas in children with neurofibromatosis type 1 (NF1). Acta Neuropathol. 2021 Apr;141(4):605-617. doi: 10.1007/s00401-021-02276-5. Epub 2021 Feb 14. PMID: 33585982.

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):13030/qt5ck3f722. PMID: 32045143.

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 Sep 3;93(10):e964-e967. doi: 10.1212/WNL.0000000000008065. Epub 2019 Jul 30. PMID: 31363058.

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. PMID: 31690684.

Mahdi J, Goyal MS, Griffith J, Morris SM, Gutmann DH. Nonoptic pathway tumors in children with neurofibromatosis type 1. Neurology. 2020 Aug 25;95(8):e1052-e1059. doi: 10.1212/WNL.0000000000009458. Epub 2020 Apr 16. PMID: 32300062; PMCID: PMC7668552.

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. PMID: 31692483; PMCID: PMC6710538.

Rosen KL, Cobb O, Gavney D, Morris SM, Gutmann DH. Predictors of Patient Return to a Tertiary Neurofibromatosis Subspecialty Clinic. J Pediatr. 2022 May 11:S0022-3476(22)00413-9. doi: 10.1016/j.jpeds.2022.05.007. Epub ahead of print. PMID: 35561805.

Payne JM, Hearps SJC, Walsh KS, Paltin I, Barton B, Ullrich NJ, Haebich KM, Coghill D, Gioia GA, Cantor A, Cutter G, Tonsgard JH, Viskochil D, Rey-Casserly C, Schorry EK, Ackerson JD, Klesse L, Fisher MJ, Gutmann DH, Rosser T, Packer RJ, Korf B, Acosta MT, North KN; NF Clinical Trials Consortium. Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1. Ann Clin Transl Neurol. 2019 Dec;6(12):2555-2565. doi: 10.1002/acn3.50952. Epub 2019 Dec 3. PMID: 31797581; PMCID: PMC6917317.

Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Huson SM, Wolkenstein P, Evans DG. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022 Jun 8:S1098-3600(22)00773-0. doi: 10.1016/j.gim.2022.05.007. Epub ahead of print. PMID: 35674741.

Godec A, Jayasinghe R, Chrisinger JSA, Prudner B, Ball T, Wang Y, Srihari D, Kaushal M, Dietz H, Zhang X, Pekmezci M, Dahiya S, Tao Y, Luo J, Van Tine BA, Ding L, Gutmann DH, Hirbe AC. Whole exome sequencing reveals the maintained polyclonal nature from primary to metastatic malignant peripheral nerve sheath tumor in two patients with NF1. Neurooncol Adv. 2019 Sep 10;2(Suppl 1):i75-i84. doi: 10.1093/noajnl/vdz026. PMID: 32642734; PMCID: PMC7317063.