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Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
Koleske ML, McInnes G, Brown JEH, Thomas N, Hutchinson K, Chin MY, Koehl A, Arkin MR, Schlessinger A, Gallagher RC, Song YS, Altman RB, Giacomini KM. Koleske ML, et al. Among authors: hutchinson k. Proc Natl Acad Sci U S A. 2022 Nov 16;119(46):e2210247119. doi: 10.1073/pnas.2210247119. Epub 2022 Nov 7. Proc Natl Acad Sci U S A. 2022. PMID: 36343260 Free PMC article.
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Silva DB, Trinidad M, Ljungdahl A, Revalde JL, Berguig GY, Wallace W, Patrick CS, Bomba L, Arkin M, Dong S, Estrada K, Hutchinson K, LeBowitz JH, Schlessinger A, Johannesen KM, Møller RS, Giacomini KM, Froelich S, Sanders SJ, Wuster A. Silva DB, et al. Among authors: hutchinson k. Am J Hum Genet. 2024 Jun 6;111(6):1222-1238. doi: 10.1016/j.ajhg.2024.04.021. Epub 2024 May 22. Am J Hum Genet. 2024. PMID: 38781976 Free PMC article.
Thermal stabilities of globular proteins.
Dill KA, Alonso DO, Hutchinson K. Dill KA, et al. Among authors: hutchinson k. Biochemistry. 1989 Jun 27;28(13):5439-49. doi: 10.1021/bi00439a019. Biochemistry. 1989. PMID: 2775715
Inavolisib-Based Therapy in PIK3CA-Mutated Advanced Breast Cancer.
Turner NC, Im SA, Saura C, Juric D, Loibl S, Kalinsky K, Schmid P, Loi S, Sunpaweravong P, Musolino A, Li H, Zhang Q, Nowecki Z, Leung R, Thanopoulou E, Shankar N, Lei G, Stout TJ, Hutchinson KE, Schutzman JL, Song C, Jhaveri KL. Turner NC, et al. Among authors: hutchinson ke. N Engl J Med. 2024 Oct 31;391(17):1584-1596. doi: 10.1056/NEJMoa2404625. N Engl J Med. 2024. PMID: 39476340 Clinical Trial.
Conditional Knockout of Striatal Gnal Produces Dystonia-like Motor Phenotypes.
Chambers NE, Hall D, Barsoum S, Miller E, Curry T, Kaplan M, Garan S, Gallardo I, Staab R, Nabert D, Hutchinson K, Millett M, Moehle MS. Chambers NE, et al. Among authors: hutchinson k. bioRxiv [Preprint]. 2024 Aug 28:2024.08.26.609754. doi: 10.1101/2024.08.26.609754. bioRxiv. 2024. PMID: 39253490 Free PMC article. Preprint.
323 results