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The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants.
Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, Hüffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, Møller RS, Gomez-Puertas P, Chung WK, Gardella E, Tümer Z. Furia F, et al. Among authors: dean sj. Clin Genet. 2024 Nov;106(5):574-584. doi: 10.1111/cge.14587. Epub 2024 Jul 11. Clin Genet. 2024. PMID: 38988293
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M, Kianmahd J, Singh M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM Jr, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers MK, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Yabumoto M, et al. Among authors: dean sj. Mol Genet Genomic Med. 2021 Oct;9(10):e1809. doi: 10.1002/mgg3.1809. Epub 2021 Sep 14. Mol Genet Genomic Med. 2021. PMID: 34519438 Free PMC article.
Pediatric cancer genetics.
Dean SJ, Farmer M. Dean SJ, et al. Curr Opin Pediatr. 2017 Dec;29(6):629-633. doi: 10.1097/MOP.0000000000000543. Curr Opin Pediatr. 2017. PMID: 28984800 Review.
Repeatedly in Rhabdomyolysis.
Gooch C, Dean SJ, Marzullo L. Gooch C, et al. Among authors: dean sj. Pediatr Emerg Care. 2021 Dec 1;37(12):e1759-e1760. doi: 10.1097/PEC.0000000000002079. Pediatr Emerg Care. 2021. PMID: 32205805
An Early Case of Complete Androgen Insensitivity Syndrome.
Matalka L, Dean SJ, Beauchamp G, Sunil B. Matalka L, et al. Among authors: dean sj. J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096231157918. doi: 10.1177/23247096231157918. J Investig Med High Impact Case Rep. 2023. PMID: 36852701 Free PMC article.
Managing Corneal Infections: Out with the old, in with the new?
Marasini S, Craig JP, Dean SJ, Leanse LG. Marasini S, et al. Among authors: dean sj. Antibiotics (Basel). 2023 Aug 18;12(8):1334. doi: 10.3390/antibiotics12081334. Antibiotics (Basel). 2023. PMID: 37627753 Free PMC article. Review.
Blinking and upper eyelid morphology.
Shew W, Muntz A, Dean SJ, Pult H, Wang MTM, Craig JP. Shew W, et al. Among authors: dean sj. Cont Lens Anterior Eye. 2022 Dec;45(6):101702. doi: 10.1016/j.clae.2022.101702. Epub 2022 May 20. Cont Lens Anterior Eye. 2022. PMID: 35599140
44 results