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Page 1
ALPK3 heterozygous truncating variants cause late-onset hypertrophic cardiomyopathy with frequent apical involvement and apical aneurysm.
Busse L, Huth EA, Abraham MR, Abraham T, Padmanabhan A, Wojciak J, Wright G, Aatre R, Campagna R, Jackson E, Kreykes S, Lane K, Sawyer L, Stevens C, Thomas M, VanDyke R, Vedantham V, Higgs EJ. Busse L, et al. Among authors: aatre r. medRxiv [Preprint]. 2024 Nov 15:2024.11.14.24317359. doi: 10.1101/2024.11.14.24317359. medRxiv. 2024. PMID: 39606411 Free PMC article. Preprint.
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: aatre r. 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.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
Hostetler EM, Regalado ES, Guo DC, Hanna N, Arnaud P, Muiño-Mosquera L, Callewaert BL, Lee K, Leal SM, Wallace SE, Rideout AL, Dyack S, Aatre RD, Boileau C, De Backer J, Jondeau G, Milewicz DM. Hostetler EM, et al. Among authors: aatre rd. J Med Genet. 2019 Apr;56(4):252-260. doi: 10.1136/jmedgenet-2018-105583. Epub 2019 Jan 19. J Med Genet. 2019. PMID: 30661052
Prenatal diagnosis of a de novo ring chromosome 11.
Mohamed AN, Ebrahim SA, Aatre R, Qureshi F, Jacques SM, Evans MI. Mohamed AN, et al. Among authors: aatre r. Am J Med Genet. 2001 Sep 1;102(4):368-71. doi: 10.1002/ajmg.1492. Am J Med Genet. 2001. PMID: 11503165