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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM Jr, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID. Kaur M, et al. Among authors: yamamoto n. Am J Med Genet A. 2023 Aug;191(8):2113-2131. doi: 10.1002/ajmg.a.63247. Epub 2023 Jun 28. Am J Med Genet A. 2023. PMID: 37377026 Free PMC article.
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Yamamoto N, Balciuniene J, Hartman T, Diaz-Miranda MA, Bedoukian E, Devkota B, Lawrence A, Golenberg N, Patel M, Tare A, Chen R, Schindler E, Choi J, Kaur M, Charles S, Chen J, Fanning EA, Dechene E, Cao K, Jill MR, Rajagopalan R, Bayram Y, Dulik MC, Germiller J, Conlin LK, Krantz ID, Luo M. Yamamoto N, et al. J Pediatr. 2023 Nov;262:113620. doi: 10.1016/j.jpeds.2023.113620. Epub 2023 Jul 19. J Pediatr. 2023. PMID: 37473993
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111.
Lo E, Blair J, Yamamoto N, Diaz-Miranda MA, Bedoukian E, Gray C, Lawrence A, Dedhia K, Elden LM, Germiller JA, Kazahaya K, Sobol SE, Luo M, Krantz ID, Hartman TR. Lo E, et al. Among authors: yamamoto n. Am J Med Genet A. 2024 May;194(5):e63530. doi: 10.1002/ajmg.a.63530. Epub 2024 Jan 10. Am J Med Genet A. 2024. PMID: 38197511
Comparison of Implant Placement Accuracy Between Manual, Robot-Assisted, Computer-Navigated, Augmented Reality Navigated, Patient-Specific Instrumentation, and Accelerometer Navigated Total Hip Arthroplasty: A Systematic Review and Network Meta-Analysis.
Miura T, Yamamoto N, Shiroshita A, Tsuge T, Saitsu A, Yoshitani J, Nakao S, Takami K. Miura T, et al. Among authors: yamamoto n. JBJS Rev. 2024 Nov 5;12(11). doi: 10.2106/JBJS.RVW.24.00120. eCollection 2024 Nov 1. JBJS Rev. 2024. PMID: 39499789
Risk of admission requirement among children with respiratory infection in the post-COVID-19 pandemic era.
Mori T, Kitano T, Kitagawa D, Murata M, Onishi M, Hachisuka S, Okubo T, Yamamoto N, Nishikawa H, Onaka M, Suzuki R, Sekine M, Suzuki S, Nakamura F, Yoshida S. Mori T, et al. Among authors: yamamoto n. J Infect Public Health. 2024 Oct 28;17(12):102570. doi: 10.1016/j.jiph.2024.102570. Online ahead of print. J Infect Public Health. 2024. PMID: 39481292 Free article.
Accurate and Safe Tumor Targeting of Orally-administered Salmonella typhimurium A1-R Leads to Regression of an Aggressive Fibrosarcoma in Nude Mice.
Morinaga S, Zhao M, Mizuta K, Kang BM, Sato M, Bouvet M, Yamamoto N, Hayashi K, Kimura H, Miwa S, Igarashi K, Higuchi T, Tsuchiya H, Demura S, Hoffman RM. Morinaga S, et al. Among authors: yamamoto n. In Vivo. 2024 Nov-Dec;38(6):2601-2609. doi: 10.21873/invivo.13736. In Vivo. 2024. PMID: 39477429 Free PMC article.
6,360 results