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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.
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.
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Subdural Hemorrhage as an Early Presentation in a Case of Sotos Syndrome.
Nomakuchi TT, Alves CAP, Beslow LA, Zarnow D, Goyal N, Zackai EH, Reynoso Santos FJ.
Nomakuchi TT, et al.
Neuropediatrics. 2024 Feb;55(1):71-74. doi: 10.1055/a-2052-8750. Epub 2023 Mar 13.
Neuropediatrics. 2024.
PMID: 36914163
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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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Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
Wild KT, Nomakuchi TT, Sheppard SE, Leavens KF, De León DD, Zackai EH.
Wild KT, et al. Among authors: nomakuchi tt.
Am J Med Genet A. 2021 Apr;185(4):1251-1255. doi: 10.1002/ajmg.a.62085. Epub 2021 Jan 14.
Am J Med Genet A. 2021.
PMID: 33442921
Free PMC article.
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Mechanism of Nonsense-Mediated mRNA Decay Stimulation by Splicing Factor SRSF1.
Aznarez I, Nomakuchi TT, Tetenbaum-Novatt J, Rahman MA, Fregoso O, Rees H, Krainer AR.
Aznarez I, et al. Among authors: nomakuchi tt.
Cell Rep. 2018 May 15;23(7):2186-2198. doi: 10.1016/j.celrep.2018.04.039.
Cell Rep. 2018.
PMID: 29768215
Free PMC article.
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Antisense oligonucleotide-directed inhibition of nonsense-mediated mRNA decay.
Nomakuchi TT, Rigo F, Aznarez I, Krainer AR.
Nomakuchi TT, et al.
Nat Biotechnol. 2016 Feb;34(2):164-6. doi: 10.1038/nbt.3427. Epub 2015 Dec 14.
Nat Biotechnol. 2016.
PMID: 26655495
Free PMC article.
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