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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: fee rj. Genet Med. 2024 Aug;26(8):101169. doi: 10.1016/j.gim.2024.101169. Epub 2024 May 21. Genet Med. 2024. PMID: 38785164
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: fee rj. Clin Genet. 2024 May;105(5):523-532. doi: 10.1111/cge.14487. Epub 2024 Jan 21. Clin Genet. 2024. PMID: 38247296
Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.
Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L, Nichols C, Hartnett E, Averion GM, Collins JC, Kim ES, Kokkinis A, Schindler A, Zukosky K, Fee R, Hinton V, Mohassel P, Bharucha-Goebel D, Vuillerot C, McGraw P, Barton M, Fontana J, Rutkowski A, Foley AR, Bönnemann CG. Jain MS, et al. Among authors: fee r. Neurology. 2019 Nov 19;93(21):e1932-e1943. doi: 10.1212/WNL.0000000000008517. Epub 2019 Oct 25. Neurology. 2019. PMID: 31653707 Free PMC article.
32 results