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Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections.
Guo DC, Grove ML, Prakash SK, Eriksson P, Hostetler EM, LeMaire SA, Body SC, Shalhub S, Estrera AL, Safi HJ, Regalado ES, Zhou W, Mathis MR; GenTAC Investigators; BAVCon Investigators; Eagle KA, Yang B, Willer CJ, Boerwinkle E, Milewicz DM. Guo DC, et al. Among authors: hostetler em. Am J Hum Genet. 2016 Sep 1;99(3):762-769. doi: 10.1016/j.ajhg.2016.06.034. Epub 2016 Aug 25. Am J Hum Genet. 2016. PMID: 27569546 Free PMC article.
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.
Guo DC, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ; University of Washington Center for Mendelian Genomics; Leal SM, Bamshad MJ, Shendure J, Nickerson DA, Jondeau G, Boileau C, Milewicz DM. Guo DC, et al. Among authors: hostetler em. Circ Res. 2016 Mar 18;118(6):928-34. doi: 10.1161/CIRCRESAHA.115.307130. Epub 2016 Jan 12. Circ Res. 2016. PMID: 26838787 Free PMC article.
LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.
Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK; University of Washington Center for Mendelian Genomics; Leal SM, Bamshad MJ, Nickerson DA, Natowicz M, Rifkin DB, Milewicz DM. Guo DC, et al. Among authors: hostetler em. Am J Hum Genet. 2018 Apr 5;102(4):706-712. doi: 10.1016/j.ajhg.2018.03.002. Am J Hum Genet. 2018. PMID: 29625025 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. 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
Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.
Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Milewicz DM. Regalado ES, et al. Clin Genet. 2016 Jun;89(6):719-23. doi: 10.1111/cge.12702. Epub 2016 Jan 20. Clin Genet. 2016. PMID: 26621581 Free PMC article.
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.
Wallace SE, Regalado ES, Gong L, Janda AL, Guo DC, Russo CF, Kulmacz RJ, Hanna N, Jondeau G, Boileau C, Arnaud P, Lee K, Leal SM, Hannuksela M, Carlberg B, Johnston T, Antolik C, Hostetler EM, Colombo R, Milewicz DM. Wallace SE, et al. Among authors: hostetler em. Genet Med. 2019 Jan;21(1):144-151. doi: 10.1038/s41436-018-0038-0. Epub 2018 Jun 20. Genet Med. 2019. PMID: 29925964 Free PMC article.
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.
Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, Smith ER, Tournier-Lasserve E, Milewicz DM. Pinard A, et al. Among authors: hostetler em. Genet Med. 2020 Feb;22(2):427-431. doi: 10.1038/s41436-019-0639-2. Epub 2019 Sep 2. Genet Med. 2020. PMID: 31474762 Free PMC article.
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Musfee FI, Guo D, Pinard AC, Hostetler EM, Blue EE, Nickerson DA; University of Washington Center for Mendelian Genomics (UW-CMG); Bamshad MJ, Milewicz DM, Prakash SK. Musfee FI, et al. Among authors: hostetler em. Mol Genet Genomic Med. 2020 Oct;8(10):e1406. doi: 10.1002/mgg3.1406. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32748548 Free PMC article.
13 results