Murthy H, Hoang N, Stark JC, Cui S, Pannia E, Tsoi CT, Harris S, Ceolin C, Verhaeghe L, Scholten S, Baribeau D, Summers J, Costain G, Selvanayagam T, Howe JL, Lewis MES, Brunet T, Rieger S, Rosenfeld JA, Craigen WJ, Burrage LC, Christie MR, Baldwin D, Wentzensen IM, Keren B, Cogne B, Isidor B, Afenjar A, Elshafie RM, Bastaki L, Alkanderi S, Myers KA, Demarest S, Angione K, Abbott M, Campeau PM, Dowling JJ, Mendoza-Londono R, Scherer SW, Deshwar AR, Vorstman J. Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia. Brain. 2025 Jul 28. [Epub ahead of print] PubMed PMID: 40717498
Garris J, Abbott M, Axeen E, Tochen L, Schreiber JM. Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies. Epilepsy Curr. 2025 Dec;25(6):378-388. PubMed PMID: 40534755
Abbott M, Angione K, Stringfellow M, Malik K, Saenz M, McCourt E, Silveira L, Miele A, Benke TA, Demarest S. Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes. J Child Neurol. 2025 Aug 6;:8830738251361698. [Epub ahead of print] PubMed PMID: 40767165
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.
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
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
Abbott M, Angione K, et.al. Survey of Epilepsy Presentations in 8p-Related Disorders. Epilepsy Research. 2025. Accepted, In Press.