Perinelli MG, Abbott M, Balagura G, Riva A, Amadori E, Verrotti A, Demarest S, Striano P. Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol. Syst Rev. 2024 Aug 31;13(1):223. PubMed PMID: 39217383
Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing. Am J Med Genet A. 2024 Oct;194(10):e63725. PubMed PMID: 38775384
Abbott M, Bender KJ, Brunklaus A, Demarest S, Egan S, Haviland I, et al. SCN2A-Related Disorders. George, Jr. AL, ed. Elements in Genetics in Epilepsy. Cambridge University Press; 2025.
Brock DC, Abbott M, Reed L, Kammeyer R, Gibbons M, Angione K, Bernard TJ, Gaskell A, Demarest S. Epilepsy panels in clinical practice: Yield, variants of uncertain significance, and treatment implications. Epilepsy Res. 2023 Jul;193:107167. PubMed PMID: 37230012
Abbott M, Jain M, Pferdehirt R, Chen Y, Tran A, Duz MB, Seven M, Gibbs RA, Muzny D, Lee B, Marom R, Burrage LC. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 Oct;173(10):2789-2794. PubMed PMID: 28815944