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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. Among authors: shimamura a. medRxiv [Preprint]. 2023 Sep 28:2023.09.27.23294269. doi: 10.1101/2023.09.27.23294269. medRxiv. 2023. Update in: HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273 PMID: 37808847 Free PMC article. Updated. Preprint.
Heterozygous loss-of-function SMC3 variants are associated with variable 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, Dortenzio V, Kliesch S, Singer-Berk M, Groopman E, DiTroia S, Ballal S, Srivastava S, Rothfelder K, Biskup S, Rzasa J, Kerkhof J, McConkey H, Sadikovic B, Hilton S, Banka S, Tüttelmann F, Conrad DF, O'Donnell-Luria A, Talkowski ME, FitzPatrick DR, Boone PM. Ansari M, et al. Among authors: shimamura a. HGG Adv. 2024 Apr 11;5(2):100273. doi: 10.1016/j.xhgg.2024.100273. Epub 2024 Jan 30. HGG Adv. 2024. PMID: 38297832 Free PMC article.
Germline predisposition traits in allogeneic hematopoietic stem-cell transplantation for myelodysplastic syndromes: a survey-based study and position paper on behalf of the Chronic Malignancies Working Party of the EBMT.
Gurnari C, Robin M, Godley LA, Drozd-Sokołowska J, Włodarski MW, Raj K, Onida F, Worel N, Ciceri F, Carbacioglu S, Kenyon M, Aljurf M, Bonfim C, Makishima H, Niemeyer C, Fenaux P, Zebisch A, Hamad N, Chalandon Y, Hellström-Lindberg E, Voso MT, Mecucci C, Duarte FB, Sebert M, Sicre de Fontbrune F, Soulier J, Shimamura A, Lindsley RC, Maciejewski JP, Calado RT, Yakoub-Agha I, McLornan DP. Gurnari C, et al. Among authors: shimamura a. Lancet Haematol. 2023 Dec;10(12):e994-e1005. doi: 10.1016/S2352-3026(23)00265-X. Epub 2023 Oct 25. Lancet Haematol. 2023. PMID: 37898151 Review.
Performance comparison in workflow efficiency between a remotely installed 3D workstation and an on-premises image processing workstation for dental cone-beam CT image reconstruction.
Tanaka R, Mouri H, Takahashi N, Izumisawa M, Hoshino M, Sakamoto R, Kanamori T, Shimamura A, Sakai R, Kanno E, Sawano M. Tanaka R, et al. Among authors: shimamura a. Oral Radiol. 2025 Jan 24. doi: 10.1007/s11282-025-00806-5. Online ahead of print. Oral Radiol. 2025. PMID: 39853597
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Stenton SL, Laricchia K, Lake NJ, Chaluvadi S, Ganesh V, DiTroia S, Osei-Owusu I, Pais L, O'Heir E, Austin-Tse C, O'Leary M, Abu Shanap M, Barrows C, Berger S, Bönnemann CG, Bujakowska KM, Campagna DR, Compton AG, Donkervoort S, Fleming MD, Gallacher L, Gleeson JG, Haliloglu G, Pierce EA, Place EM, Sankaran VG, Shimamura A, Stark Z, Tan TY, Thorburn DR, White SM; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Vilain E, Lek M, Rehm HL, O'Donnell-Luria A. Stenton SL, et al. Among authors: shimamura a. medRxiv [Preprint]. 2024 Dec 26:2024.12.22.24319370. doi: 10.1101/2024.12.22.24319370. medRxiv. 2024. PMID: 39763565 Free PMC article. Preprint.
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. French CE, et al. Among authors: shimamura a. NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9. NPJ Genom Med. 2024. PMID: 39622807 Free PMC article.
Association of Japanese cedar pollen sensitization in children with Dermatophagoides pteronyssinus sensitization and maternal sensitization: Insights from the Yamanashi adjunct study within the Japan Environment and Children's Study (JECS).
Shimamura A, Shinohara R, Kushima M, Otawa S, Yui H, Matsuoka T, Watanabe D, Yokomichi H, Miyake K, Kojima R, Yamagata Z, Sakurai D; Yamanashi Adjunct Study of the Japan Environment and Children’s Study (JECS-Y) Group. Shimamura A, et al. Allergol Int. 2024 Nov 30:S1323-8930(24)00125-4. doi: 10.1016/j.alit.2024.11.002. Online ahead of print. Allergol Int. 2024. PMID: 39617679 Free article.
303 results