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2019 1
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2023 5
2024 0

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Page 1
Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.
Ansari M, Faour KNW, Shimamura A, Grimes G, Kao EM, Denhoff ER, Blatnik A, Ben-Isvy D, Wang L, Helm BM, Firth H, Breman AM, Bijlsma EK, Iwata-Otsubo A, de Ravel TJL, Fusaro V, Fryer A, Nykamp K, Stühn LG, Haack TB, Korenke GC, Constantinou P, Bujakowska KM, Low KJ, Place E, Humberson J, Napier MP, Hoffman J, Juusola J, Deardorff MA, Shao W, Rockowitz S, Krantz I, Kaur M, Raible S, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, O'Donnell-Luria A, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad D, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. PMID: 37808847 Free PMC article. Updated. Preprint.
Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.
Lareau CA, Dubois SM, Buquicchio FA, Hsieh YH, Garg K, Kautz P, Nitsch L, Praktiknjo SD, Maschmeyer P, Verboon JM, Gutierrez JC, Yin Y, Fiskin E, Luo W, Mimitou EP, Muus C, Malhotra R, Parikh S, Fleming MD, Oevermann L, Schulte J, Eckert C, Kundaje A, Smibert P, Vardhana SA, Satpathy AT, Regev A, Sankaran VG, Agarwal S, Ludwig LS. Lareau CA, et al. Nat Genet. 2023 Jul;55(7):1198-1209. doi: 10.1038/s41588-023-01433-8. Epub 2023 Jun 29. Nat Genet. 2023. PMID: 37386249 Free PMC article.
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.
Khan AW, Kennedy A, Furutani E, Myers K, Frattini A, Acquati F, Roccia P, Micheloni G, Minelli A, Porta G, Cipolli M, Cesaro S, Danesino C, Pasquali F, Shimamura A, Valli R. Khan AW, et al. Mol Cytogenet. 2021 Nov 24;14(1):54. doi: 10.1186/s13039-021-00575-w. Mol Cytogenet. 2021. PMID: 34819134 Free PMC article.
Translational research for bone marrow failure patients.
Malouf C, Loughran SJ, Wilkinson AC, Shimamura A, Río P. Malouf C, et al. Exp Hematol. 2022 Jan;105:18-21. doi: 10.1016/j.exphem.2021.11.004. Epub 2021 Nov 18. Exp Hematol. 2022. PMID: 34801643 Free PMC article. Review.
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E, Liu S, Galvin A, Steltz S, Malsch MM, Loveless SK, Mount L, Larson JH, Queenan K, Bertuch AA, Fleming MD, Gansner JM, Geddis AE, Hanna R, Keel SB, Lau BW, Lipton JM, Lorsbach R, Nakano TA, Vlachos A, Wang WC, Davies SM, Weller E, Myers KC, Shimamura A. Furutani E, et al. Blood Adv. 2022 Jan 11;6(1):297-306. doi: 10.1182/bloodadvances.2021005539. Blood Adv. 2022. PMID: 34758064 Free PMC article.
18 results