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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Urreizti R, Vissicchio J, Idries M, Cozar M, Rabionet R, Donald T, Bhoj EJ, Nomakuchi TT, Shipley SC, Timms AE, Mirzaa GM, Serrano M, Sobering AK. Urreizti R, et al. Among authors: nomakuchi tt. Am J Med Genet A. 2025 Apr 29:e64095. doi: 10.1002/ajmg.a.64095. Online ahead of print. Am J Med Genet A. 2025. PMID: 40298439
Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Lubin EE, Gonzalez EM, Sangree AK, Durham EL, Klinkhammer H, Li JM, Smith SM, Layo-Carris DE, Clark KJ, Melendez-Perez AJ, Wang XM, Angireddy R, Weiss EE, Barakat TS, Mercier S, Cogné B, Koene S, Hilhorst-Hofstee Y, Rydzanicz M, Ploski R, de Los Ángeles Gómez Cano M, Palomares-Bralo M, Arévalo TB, Tan TY, Gallacher L, MacFarland SP, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJK. Lubin EE, et al. Among authors: nomakuchi tt. HGG Adv. 2025 Apr 15;6(3):100440. doi: 10.1016/j.xhgg.2025.100440. Online ahead of print. HGG Adv. 2025. PMID: 40241305 Free PMC article.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Odia T, Wubbenhorst BS, Faulders E, Schuth EM, Loranger K, Zhang J, Scalise CB, ElNaggar A, Sha Y, Felker SA, Weitzel J, Kallish S, Ritchie MD; Penn Medicine BioBank; Nathanson KL, Drivas TG. Safonov A, et al. Among authors: nomakuchi tt. Nat Commun. 2025 Apr 1;16(1):3121. doi: 10.1038/s41467-025-57077-1. Nat Commun. 2025. PMID: 40169570 Free PMC article.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
Safonov A, Nomakuchi TT, Chao E, Horton C, Dolinsky JS, Yussuf A, Richardson M, Speare V, Li S, Bogus ZC, Bonanni M, Raper A, Kallish S, Ritchie MD; Regeneron Genetics Center; Penn Medicine BioBank; Nathanson KL, Drivas TG. Safonov A, et al. Among authors: nomakuchi tt. medRxiv [Preprint]. 2023 Aug 10:2023.08.08.23293676. doi: 10.1101/2023.08.08.23293676. medRxiv. 2023. Update in: Nat Commun. 2025 Apr 01;16(1):3121. doi: 10.1038/s41467-025-57077-1. PMID: 37609227 Free PMC article. Updated. Preprint.
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC. Nomakuchi TT, et al. Am J Med Genet A. 2023 May;191(5):1418-1424. doi: 10.1002/ajmg.a.63148. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36794641 Free PMC article.
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