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Page 1
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
Generation of a SARS-CoV-2-susceptible mouse model using adenovirus vector expressing human angiotensin-converting enzyme 2 driven by an elongation factor 1α promoter with leftward orientation.
Matsumoto Y, Honda T, Yasui F, Endo A, Sanada T, Toyama S, Takagi A, Munakata T, Kono R, Yamaji K, Yamamoto N, Saeki Y, Kohara M. Matsumoto Y, et al. Among authors: yamamoto n. Front Immunol. 2024 Dec 9;15:1440314. doi: 10.3389/fimmu.2024.1440314. eCollection 2024. Front Immunol. 2024. PMID: 39717778 Free PMC article.
In reply.
Hayashi M, Yamamoto N, Shiroshita A. Hayashi M, et al. Among authors: yamamoto n. Ann Emerg Med. 2025 Jan;85(1):96-97. doi: 10.1016/j.annemergmed.2024.08.001. Ann Emerg Med. 2025. PMID: 39706612 No abstract available.
Multiomics analyses reveal adipose-derived stem cells inhibit the inflammatory response of M1-like macrophages through secreting lactate.
Horie T, Hirata H, Sakamoto T, Kitajima H, Fuku A, Nakamura Y, Sunatani Y, Tanida I, Sunami H, Tachi Y, Ishigaki Y, Yamamoto N, Shimizu Y, Ichiseki T, Kaneuji A, Iwabuchi K, Osawa S, Kawahara N. Horie T, et al. Among authors: yamamoto n. Stem Cell Res Ther. 2024 Dec 18;15(1):485. doi: 10.1186/s13287-024-04072-w. Stem Cell Res Ther. 2024. PMID: 39696485 Free PMC article.
HMGA2 Expression Predicts Subtype, Survival, and Treatment Outcome in Pancreatic Ductal Adenocarcinoma.
Yamamoto N, Dobersch S, Loveless I, Samraj AN, Jang GH, Haraguchi M, Kang LI, Ruzinova MB, Vij KR, Mudd JL, Walsh T, Safyan RA, Chiorean EG, Hingorani SR, Bolton NM, Li L, Fields RC, DeNardo DG, Notta F, Crawford HC, Steele NG, Kugel S. Yamamoto N, et al. Clin Cancer Res. 2024 Dec 16. doi: 10.1158/1078-0432.CCR-24-2200. Online ahead of print. Clin Cancer Res. 2024. PMID: 39680021
6,395 results