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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
Gunning AC, Strucinska K, Muñoz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Gunning AC, et al. Among authors: armstrong c. Am J Hum Genet. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30. Am J Hum Genet. 2020. PMID: 32004445 Free PMC article.
Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome.
Kaw A, Kaw K, Hostetler EM, Beleza-Meireles A, Smith-Collins A, Armstrong C, Scurr I, Cotts T, Aatre R, Bamshad MJ, Earl D, Groner A, Agre K, Raveh Y, Kwartler CS, Milewicz DM. Kaw A, et al. Among authors: armstrong c. Am J Med Genet A. 2022 Aug;188(8):2389-2396. doi: 10.1002/ajmg.a.62775. Epub 2022 May 14. Am J Med Genet A. 2022. PMID: 35567597 Free PMC article.
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.
Gibb J, Wall E, Fields E, Seale A, Armstrong C, Bamber A, Daubeney P, Jacobs-Pearson M, Marton T, Stals K, Low K, Kaski JP, Spentzou G. Gibb J, et al. Among authors: armstrong c. J Med Genet. 2024 Mar 21;61(4):405-409. doi: 10.1136/jmg-2023-109493. J Med Genet. 2024. PMID: 38050058
A unique triadin exon deletion causing a null phenotype.
O'Callaghan BM, Hancox JC, Stuart AG, Armstrong C, Williams MM, Hills A, Pearce H, Dent CL, Gable M, Walsh MA. O'Callaghan BM, et al. Among authors: armstrong c. HeartRhythm Case Rep. 2018 Aug 4;4(11):514-518. doi: 10.1016/j.hrcr.2018.07.014. eCollection 2018 Nov. HeartRhythm Case Rep. 2018. PMID: 30479949 Free PMC article. No abstract available.
The global relevance of locally grounded ethnobiology.
Fernández-Llamazares Á, Teixidor-Toneu I, Armstrong CG, Caviedes J, Ibarra JT, Lepofsky D, McAlvay AC, Molnár Z, Moraes RM, Odonne G, Poe MR, Sharifian Bahraman A, Turner NJ. Fernández-Llamazares Á, et al. Among authors: armstrong cg. J Ethnobiol Ethnomed. 2024 May 18;20(1):53. doi: 10.1186/s13002-024-00693-w. J Ethnobiol Ethnomed. 2024. PMID: 38762450 Free PMC article.
1,253 results