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NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disorders.
Clark KJ, Lubin EE, Gonzalez EM, Sangree AK, Layo-Carris DE, Durham EL, Ahrens-Nicklas RC, Nomakuchi TT, Bhoj EJ. Clark KJ, et al. Among authors: nomakuchi tt. bioRxiv [Preprint]. 2024 Feb 4:2024.02.01.578438. doi: 10.1101/2024.02.01.578438. bioRxiv. 2024. PMID: 38352329 Free PMC article. Preprint.
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. PMID: 37609227 Free PMC article. 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.