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Page 1
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Dworschak GC, et al. Among authors: o shea sa. Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30. Genet Med. 2021. PMID: 34054129 Free PMC article.
Multimodal deep learning for Alzheimer's disease dementia assessment.
Qiu S, Miller MI, Joshi PS, Lee JC, Xue C, Ni Y, Wang Y, De Anda-Duran I, Hwang PH, Cramer JA, Dwyer BC, Hao H, Kaku MC, Kedar S, Lee PH, Mian AZ, Murman DL, O'Shea S, Paul AB, Saint-Hilaire MH, Alton Sartor E, Saxena AR, Shih LC, Small JE, Smith MJ, Swaminathan A, Takahashi CE, Taraschenko O, You H, Yuan J, Zhou Y, Zhu S, Alosco ML, Mez J, Stein TD, Poston KL, Au R, Kolachalama VB. Qiu S, et al. Nat Commun. 2022 Jun 20;13(1):3404. doi: 10.1038/s41467-022-31037-5. Nat Commun. 2022. PMID: 35725739 Free PMC article.
AI-based differential diagnosis of dementia etiologies on multimodal data.
Xue C, Kowshik SS, Lteif D, Puducheri S, Jasodanand VH, Zhou OT, Walia AS, Guney OB, Zhang JD, Pham ST, Kaliaev A, Andreu-Arasa VC, Dwyer BC, Farris CW, Hao H, Kedar S, Mian AZ, Murman DL, O'Shea SA, Paul AB, Rohatgi S, Saint-Hilaire MH, Sartor EA, Setty BN, Small JE, Swaminathan A, Taraschenko O, Yuan J, Zhou Y, Zhu S, Karjadi C, Alvin Ang TF, Bargal SA, Plummer BA, Poston KL, Ahangaran M, Au R, Kolachalama VB. Xue C, et al. Among authors: o shea sa. Nat Med. 2024 Oct;30(10):2977-2989. doi: 10.1038/s41591-024-03118-z. Epub 2024 Jul 4. Nat Med. 2024. PMID: 38965435 Free PMC article.
16 results