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POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.
Smallwood K, Watt KEN, Ide S, Baltrunaite K, Brunswick C, Inskeep K, Capannari C, Adam MP, Begtrup A, Bertola DR, Demmer L, Demo E, Devinsky O, Gallagher ER, Guillen Sacoto MJ, Jech R, Keren B, Kussmann J, Ladda R, Lansdon LA, Lunke S, Mardy A, McWalters K, Person R, Raiti L, Saitoh N, Saunders CJ, Schnur R, Skorvanek M, Sell SL, Slavotinek A, Sullivan BR, Stark Z, Symonds JD, Wenger T, Weber S, Whalen S, White SM, Winkelmann J, Zech M, Zeidler S, Maeshima K, Stottmann RW, Trainor PA, Weaver KN. Smallwood K, et al. Among authors: demo e. Am J Hum Genet. 2023 May 4;110(5):809-825. doi: 10.1016/j.ajhg.2023.03.014. Epub 2023 Apr 18. Am J Hum Genet. 2023. PMID: 37075751 Free PMC article.
Do HCN4 Variants Predispose to Thoracic Aortic Aneurysms and Dissections?
Hanania HL, Regalado ES, Guo DC, Xu L, Demo E, Sallee D, Milewicz DM. Hanania HL, et al. Among authors: demo e. Circ Genom Precis Med. 2019 Dec;12(12):e002626. doi: 10.1161/CIRCGEN.119.002626. Epub 2019 Nov 15. Circ Genom Precis Med. 2019. PMID: 31731876 No abstract available.
Genetics and Precision Medicine: Heritable Thoracic Aortic Disease.
Demo E, Rigelsky C, Rideout AL, Graf M, Pariani M, Regalado E, MacCarrick G. Demo E, et al. Med Clin North Am. 2019 Nov;103(6):1005-1019. doi: 10.1016/j.mcna.2019.08.001. Epub 2019 Aug 31. Med Clin North Am. 2019. PMID: 31582001 Review.
Exploring the Discussion of Risk of Sudden Cardiac Death.
Wiley KA, Demo EM, Walker P, Shuler CO. Wiley KA, et al. Among authors: demo em. Pediatr Cardiol. 2016 Feb;37(2):262-70. doi: 10.1007/s00246-015-1272-8. Epub 2015 Oct 3. Pediatr Cardiol. 2016. PMID: 26433939