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Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Sudnawa KK, Garber A, Cohen R, Calamia S, Kanner CH, Montes J, Bain JM, Fee RJ, Chung WK. Sudnawa KK, et al. Among authors: kanner ch. Clin Genet. 2024 May;105(5):523-532. doi: 10.1111/cge.14487. Epub 2024 Jan 21. Clin Genet. 2024. PMID: 38247296 Free PMC article.
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Sudnawa KK, Li W, Calamia S, Kanner CH, Bain JM, Abdelhakim AH, Geltzeiler A, Mebane CM, Provenzano FA, Sands TT, Fee RJ, Montes J, Shen Y, Chung WK. Sudnawa KK, et al. Among authors: kanner ch. Genet Med. 2024 Aug;26(8):101169. doi: 10.1016/j.gim.2024.101169. Epub 2024 May 21. Genet Med. 2024. PMID: 38785164
Development of the SMA EFFORT: A new approach to characterize perceived physical fatigability in spinal muscular atrophy.
Rodriguez-Torres R, Kanner CH, Gay EL, Uher D, Corbeil T, Coratti G, Dunaway Young S, Rohwer A, Muni Lofra R, McDermott MP, De Vivo DC, Wall MM, Glynn NW, Montes J. Rodriguez-Torres R, et al. Among authors: kanner ch. J Neuromuscul Dis. 2025 Jan-Feb;12(1):22143602241313326. doi: 10.1177/22143602241313326. J Neuromuscul Dis. 2025. PMID: 39973458 Free article.