Publications
See a complete PubMed list of publications by Tyler Mark Pierson, MD, PhD.
Selected Key Publications
- Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Pierson TM et al. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 May;22(5):878-888.
- Pierson TM, Otero MG, Grand K, Choi A, Mackay J, Young JI, Graham Jr JM, Mackay J. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet. 2019 Dec;181(4):548-556.
- Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Pierson TM, et al. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biol Psychiatry. 2020 Jan 15;87(2):100-112.
- Chen W, Shieh C, Graham JM, Tagliati M, Au M, Tankovic A, Wilcox W, Traynelis S, Yuan H, Pierson TM. GRIN1 mutation associated with developmental delay and movement disorder as a result of decreased NMDA receptor activity. J Hum Genet. 2017 Jun;62(6):589-597.
- Hjelm B, Grunseich C, Gowing G, Avalos P, Shelley B, Mooney MA, Narwani K, Shi Y, Svendsen CN, Wolfe JH, Fischbeck KH, Pierson TM. Mifepristone-inducible transgene expression in neural progenitor cells in vitro and in vivo. Gene Ther. 2016 May;23(5):424-437.
- Shieh C, Moser F, Graham JM, Watiker V, Pierson TM. Mutation in the sixth immunoglobulin domain of L1CAM is associated with migrational anomalies. Neurol Genet. 2015 Nov 16;1(4):e34.
- Pizzino A *, Pierson TM *, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JLP, Padiath Q, Xie Y, et al. TUBB4A de novo mutations cause isolated hypomyelination. Neurology. 2014 Sep 2;83(10):898-902.
- Renvoisé B, Chang J, Singh R, Yonekawa S, FitzGibbon EJ, Schindler A, Toro C, Gahl WA, Mahuran D, Blackstone C, TM Pierson. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11. Ann Clin Transl Neurol. 2014 Jun 1;1(6):379-389.
- Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Markello TC, Adams DA, Golas G, Schreiber JM, Lehky TJ, Simeonov DR, et al. GRIN2A mutation and epileptic encephalopathy: therapy with memantine. Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198.
- Pierson TM, Adams D, Bonn F, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin JC, Blakesley RW, Golas G, et al. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a novel spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011 Oct;7(10):e1002325.