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Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections.
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, Rieder MJ, Bamshad MJ, Nickerson DA; GenTAC Registry Consortium; National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project; Kim C, Milewicz DM. Guo DC, et al. Among authors: milewicz dm. Am J Hum Genet. 2013 Aug 8;93(2):398-404. doi: 10.1016/j.ajhg.2013.06.019. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910461 Free PMC article.
Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension.
Copeland I, Wonkam-Tingang E, Gupta-Malhotra M, Hashmi SS, Han Y, Jajoo A, Hall NJ, Hernandez PP, Lie N, Liu D, Xu J, Rosenfeld J, Haldipur A, Desire Z, Coban-Akdemir ZH, Scott DA, Li Q, Chao HT, Zaske AM, Lupski JR, Milewicz DM, Shete S, Posey JE, Hanchard NA. Copeland I, et al. Among authors: milewicz dm. JCI Insight. 2024 May 8;9(9):e172152. doi: 10.1172/jci.insight.172152. JCI Insight. 2024. PMID: 38716726 Free article.
Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.
Landstrom AP, Chahal AA, Ackerman MJ, Cresci S, Milewicz DM, Morris AA, Sarquella-Brugada G, Semsarian C, Shah SH, Sturm AC; American Heart Association Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicine and Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Hypertension; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Peripheral Vascular Disease; and Stroke Council. Landstrom AP, et al. Among authors: milewicz dm. Circ Genom Precis Med. 2023 Apr;16(2):e000092. doi: 10.1161/HCG.0000000000000092. Epub 2023 Mar 27. Circ Genom Precis Med. 2023. PMID: 36970980 Free article. Review.
ClinGen--the Clinical Genome Resource.
Rehm HL, Berg JS, Brooks LD, Bustamante CD, Evans JP, Landrum MJ, Ledbetter DH, Maglott DR, Martin CL, Nussbaum RL, Plon SE, Ramos EM, Sherry ST, Watson MS; ClinGen. Rehm HL, et al. N Engl J Med. 2015 Jun 4;372(23):2235-42. doi: 10.1056/NEJMsr1406261. Epub 2015 May 27. N Engl J Med. 2015. PMID: 26014595 Free PMC article.
X-linked genetic associations in sporadic thoracic aortic dissection.
Musfee FI, Jun G, Mitchell LE, Chen H, Guo D, Prakash SK, Adkar SS, Grove ML, Choi RB, Klarin D; Million Veteran Program; Boerwinkle E, Milewicz DM. Musfee FI, et al. Among authors: milewicz dm. Am J Med Genet A. 2024 Apr 30:e63644. doi: 10.1002/ajmg.a.63644. Online ahead of print. Am J Med Genet A. 2024. PMID: 38688863
Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.
Mansoorshahi S, Yetman AT, Bissell MM, Kim YY, Michelena H, Hui DS, Caffarelli A, Andreassi MG, Foffa I, Guo D, Citro R, De Marco M, Tretter JT, Morris SA, Body SC, Chong JX, Bamshad MJ; University of Washington Center for Rare Disease Research; BAVCon Investigators; EBAV Investigators; Milewicz DM, Prakash SK. Mansoorshahi S, et al. Among authors: milewicz dm. medRxiv [Preprint]. 2024 Feb 8:2024.02.07.24302406. doi: 10.1101/2024.02.07.24302406. medRxiv. 2024. PMID: 38370698 Free PMC article. Preprint.
[Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes].
Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra LM, de Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, de Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ. Michelena HI, et al. Among authors: milewicz dm. Arch Cardiol Mex. 2024 Feb 7;94(2):219-239. doi: 10.24875/ACM.24000002. Arch Cardiol Mex. 2024. PMID: 38325117 Free article. Spanish.
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.
Karla AR, Pinard A, Boerio ML, Hemelsoet D, Tavernier SJ, De Pauw M, Vereecke E, Fraser S, Bamshad MJ, Guo D, Callewaert B, Milewicz DM. Karla AR, et al. Among authors: milewicz dm. Am J Med Genet A. 2024 Apr;194(4):e63486. doi: 10.1002/ajmg.a.63486. Epub 2023 Dec 1. Am J Med Genet A. 2024. PMID: 38041217
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve.
Carlisle SG, Albasha H, Michelena H, Sabate-Rotes A, Bianco L, De Backer J, Mosquera LM, Yetman AT, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Guo DC, Citro R, De Marco M, Tretter JT, McBride KL; EBAV Investigators; BAVCon Investigators; Milewicz DM, Body SC, Prakash SK. Carlisle SG, et al. Among authors: milewicz dm. medRxiv [Preprint]. 2023 Oct 24:2023.10.23.23297397. doi: 10.1101/2023.10.23.23297397. medRxiv. 2023. PMID: 37961530 Free PMC article. Preprint.
311 results