Smith K, Wicklund M. Genetic Diagnosis and Counseling in Muscular Dystrophies. Principles and Practice of Muscular Dystrophies.
Fridman V, Sillau S, Bockhorst J, Smith K, et al. Disease Progression in CMT related to MPZ Mutations: A Longitudinal Study using Rasch Weighted CMT Examination Scores. Brain.
Smith K, Wicklund M. Genetic Diagnosis and Counseling in Muscular Dystrophies. Principles and Practice of Muscular Dystrophies - Current Clinical Neurology.
Forbes E, Smith K, Petluru M, Nystrom J, Fridman V. Adult-onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report. J Peripher Nerv Syst. 2022 Dec;27(4):320-324. PubMed PMID: 36057781
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME. Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Ann Neurol. 2022 Oct 6. [Epub ahead of print] PubMed PMID: 36203352
Mabry M, Scarbro S, Smith K, Solomon Sanders J. A New Adult Neurodevelopmental Disabilities Clinic: Description of Population and Yield of Genetic Testing in the First Year. Poster presented at American Academy of Neurology Annual Meeting. Seattle, WA. April 2022.
Smith K, Fridman F. RASopathy Presenting with Peripheral Neuropathy. Inherited Neuropathy Consortium (INC) Virtual Grand Rounds, 2022.
Fridman V, Sillau S, Bockhorst J, Smith K, Moroni I, Pagliano E, Pisciotta C, Piscosquito G, Laurá M, Muntoni F, Bacon C, Feely S, Grider T, Gutmann L, Shy R, Wilcox J, Herrmann DN, Li J, Ramchandren S, Sumner CJ, Lloyd TE, Day J, Siskind CE, Yum SW, Sadjadi R, Finkel RS, Scherer SS, Pareyson D, Reilly MM, Shy ME. Disease Progression in Charcot-Marie-Tooth Disease Related to MPZ Mutations: A Longitudinal Study. Ann Neurol. 2023 Mar;93(3):563-576. PubMed PMID: 36203352
Heiser H, Smith K, Duis J, Forbes E. Generalized Dystonia Due to KMT2B Mutation in a Patient with a Previous Diagnosis of Russell Silver Syndrome. Mov Disord Clin Pract. 2023 Aug;10(Suppl 3):S51-S53. PubMed PMID: 37636227