257 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2024 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, ... ... Milewicz DM, et al. Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications. Medrxiv : the Preprint Server For Health Sciences. PMID 38370698 DOI: 10.1101/2024.02.07.24302406  0.419
2024 Buja LM, Zhao B, Sadaf H, McDonald M, Segura AM, Li L, Cecchi A, Prakash SK, Afifi RO, Miller CC, Estrera AL, Milewicz DM. Insights From the Histopathologic Analysis of Acquired and Genetic Thoracic Aortic Aneurysms and Dissections. Texas Heart Institute Journal. 51. PMID 38345902 DOI: 10.14503/THIJ-23-8253  0.423
2023 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, ... ... Milewicz DM, et al. Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve. Medrxiv : the Preprint Server For Health Sciences. PMID 37961530 DOI: 10.1101/2023.10.23.23297397  0.443
2023 Prakash SK, Michelena HI, Milewicz DM. Bicuspid Aortic Valve and Thoracic Aortic Disease: Further Evidence of Clinically Silent but Deadly Risk to Family Members of Affected Individuals. Circulation. 148: 648-650. PMID 37603605 DOI: 10.1161/CIRCULATIONAHA.123.065406  0.426
2023 Isselbacher EM, Preventza O, Hamilton Black J, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A, Fanola CL, Girardi LN, Hicks CW, ... ... Milewicz DM, et al. 2022 ACC/AHA guideline for the diagnosis and management of aortic disease: A report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. The Journal of Thoracic and Cardiovascular Surgery. PMID 37389507 DOI: 10.1016/j.jtcvs.2023.04.023  0.339
2023 Klarin D, Devineni P, Sendamarai AK, Angueira AR, Graham SE, Shen YH, Levin MG, Pirruccello JP, Surakka I, Karnam PR, Roychowdhury T, Li Y, Wang M, Aragam KG, Paruchuri K, ... ... Milewicz DM, et al. Genome-wide association study of thoracic aortic aneurysm and dissection in the Million Veteran Program. Nature Genetics. PMID 37308786 DOI: 10.1038/s41588-023-01420-z  0.373
2023 Ouzounian M, LeMaire SA, Milewicz DM. Heritable aortic root aneurysms. Annals of Cardiothoracic Surgery. 12: 265-267. PMID 37304701 DOI: 10.21037/acs-2023-avs1-16  0.42
2023 Ojha KR, Kim H, Padgham S, Hopkins L, Zamen RJ, Chattopadhyay A, Han G, Milewicz DM, Massett MP, Trache A. Smooth Muscle-Alpha Actin R149C Pathogenic Variant Downregulates Integrin Recruitment at Cell-Matrix Adhesions and Decreases Cellular Contractility. International Journal of Molecular Sciences. 24. PMID 37298565 DOI: 10.3390/ijms24119616  0.311
2023 Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO, Bamshad MJ, ... ... Milewicz DM, et al. Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease. Brain : a Journal of Neurology. PMID 37253099 DOI: 10.1093/brain/awad172  0.316
2023 Momenzadeh A, Kreimer S, Guo D, Ayres M, Berman D, Chyu KY, Shah PK, Milewicz D, Azizzadeh A, Meyer JG, Parker S. Machine Learning Identifies Plasma Proteomic Signatures of Descending Thoracic Aortic Disease. Biorxiv : the Preprint Server For Biology. PMID 37162892 DOI: 10.1101/2023.04.26.538468  0.306
2023 Guo DC, Duan X, Mimnagh K, Cecchi AC, Marin IC, Yu Y, Velasco WV, Lee K, Zhu X, Murdock DR, Leal SM, Wheeler MM, Smith J, Bamshad MJ, Milewicz DM. An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family. Clinical Genetics. PMID 36861389 DOI: 10.1111/cge.14322  0.398
2022 Boerio ML, Engelhardt N, Cuddapah S, Gold JI, Marin IC, Pinard A, Guo D, Prakash SK, Milewicz DM. Further Evidence That Rare Variants Predispose to Thoracic Aortic Disease. Circulation. Genomic and Precision Medicine. e003707. PMID 36350761 DOI: 10.1161/CIRCGEN.122.003707  0.392
2022 Isselbacher EM, Preventza O, Hamilton Black J, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A, Fanola CL, Girardi LN, Hicks CW, ... ... Milewicz DM, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Journal of the American College of Cardiology. PMID 36334952 DOI: 10.1016/j.jacc.2022.08.004  0.339
2022 Isselbacher EM, Preventza O, Hamilton Black J, Augoustides JG, Beck AW, Bolen MA, Braverman AC, Bray BE, Brown-Zimmerman MM, Chen EP, Collins TJ, DeAnda A, Fanola CL, Girardi LN, Hicks CW, ... ... Milewicz DM, et al. 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation. PMID 36322642 DOI: 10.1161/CIR.0000000000001106  0.339
2022 Zhou Z, Cecchi AC, Prakash SK, Milewicz DM. Risk Factors for Thoracic Aortic Dissection. Genes. 13. PMID 36292699 DOI: 10.3390/genes13101814  0.439
2022 Regalado ES, Morris SA, Braverman AC, Hostetler EM, De Backer J, Li R, Pyeritz RE, Yetman AT, Cervi E, Shalhub S, Jeremy R, LeMaire S, Ouzounian M, Evangelista A, Boileau C, ... ... Milewicz DM, et al. Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease. Journal of the American College of Cardiology. 80: 857-869. PMID 36007983 DOI: 10.1016/j.jacc.2022.05.054  0.407
2022 Holmes KW, Markwardt S, Eagle KA, Devereux RB, Weinsaft JW, Asch FM, LeMaire SA, Maslen CL, Song HK, Milewicz DM, Prakash SK, Guo D, Morris SA, Pyeritz RE, Milewski RC, et al. Cardiovascular Outcomes in Aortopathy: GenTAC Registry of Genetically Triggered Aortic Aneurysms and Related Conditions. Journal of the American College of Cardiology. 79: 2069-2081. PMID 35618343 DOI: 10.1016/j.jacc.2022.03.367  0.403
2022 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, et al. Expanding ACTA2 genotypes with corresponding phenotypes overlapping with smooth muscle dysfunction syndrome. American Journal of Medical Genetics. Part A. PMID 35567597 DOI: 10.1002/ajmg.a.62775  0.319
2022 Cecchi AC, Drake M, Campos C, Howitt J, Medina J, Damrauer SM, Shalhub S, Milewicz DM. Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care. Seminars in Vascular Surgery. 35: 51-59. PMID 35501041 DOI: 10.1053/j.semvascsurg.2022.02.003  0.303
2022 van Walree ES, Dombrowsky G, Jansen IE, Umićević Mirkov M, Zwart R, Ilgun A, Guo D, Clur SB, Amin AS, Savage JE, van der Wal AC, Waisfisz Q, Maugeri A, Wilsdon A, Bu'Lock FA, ... ... Milewicz DM, et al. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 24: 965. PMID 35394427 DOI: 10.1016/j.gim.2022.01.018  0.352
2022 Saddic L, Orosco A, Guo D, Milewicz DM, Troxlair D, Heide RV, Herrington D, Wang Y, Azizzadeh A, Parker SJ. Proteomic analysis of descending thoracic aorta identifies unique and universal signatures of aneurysm and dissection. Jvs-Vascular Science. 3: 85-181. PMID 35280433 DOI: 10.1016/j.jvssci.2022.01.001  0.406
2022 Landis BJ, Lai D, Guo DC, Corvera JS, Idrees MT, Stadler HW, Cuevas C, Needler GU, Vujakovich CE, Milewicz DM, Hinton RB, Ware SM. Identification of a common polymorphism in acting as a modifier of thoracic aortic aneurysm severity. Hgg Advances. 3. PMID 34917985 DOI: 10.1016/j.xhgg.2021.100057  0.388
2021 Bhave SA, Guo DC, Angelov S, Bamshad MJ, Nickerson DA, Milewicz D, Wallingford MC. Human Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease. Cardiogenetics. 11: 132-138. PMID 36158166 DOI: 10.3390/cardiogenetics11030015  0.431
2021 Cecchi AC, Haidar A, Marin I, Kwartler CS, Prakash SK, Milewicz DM. Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton-Brown-Rahman syndrome. American Journal of Medical Genetics. Part A. PMID 34644003 DOI: 10.1002/ajmg.a.62541  0.37
2021 Coselli JS, Volguina IV, LeMaire SA, Connolly HM, Sundt TM, Milewicz DM, Dietz HC, Amarasekara HS, Green SY, Zhang Q, Schaff HV, Miller DC. Midterm outcomes of aortic root surgery in patients with Marfan syndrome: A prospective, multicenter, comparative study. The Journal of Thoracic and Cardiovascular Surgery. PMID 34629178 DOI: 10.1016/j.jtcvs.2021.08.064  0.356
2021 Chen J, Kaw K, Lu H, Fagnant PM, Chattopadhyay A, Duan XY, Zhou Z, Ma S, Liu Z, Huang J, Kamm K, Stull JT, Kwartler CS, Trybus KM, Milewicz DM. Resistance of Acta2 Mice to Aortic Disease is Associated with Defective Release of Mutant Smooth Muscle α-actin from the Chaperonin-containing TCP1 folding complex. The Journal of Biological Chemistry. 101228. PMID 34600884 DOI: 10.1016/j.jbc.2021.101228  0.311
2021 Michelena HI, Corte AD, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, ... ... Milewicz DM, et al. International Consensus Statement on Nomenclature and Classification of the Congenital Bicuspid Aortic Valve and Its Aortopathy, for Clinical, Surgical, Interventional and Research Purposes. Radiology. Cardiothoracic Imaging. 3: e200496. PMID 34505060 DOI: 10.1148/ryct.2021200496  0.326
2021 Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE. Marfan syndrome. Nature Reviews. Disease Primers. 7: 64. PMID 34475413 DOI: 10.1038/s41572-021-00298-7  0.474
2021 Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, ... ... Milewicz DM, et al. International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes. The Journal of Thoracic and Cardiovascular Surgery. PMID 34304896 DOI: 10.1016/j.jtcvs.2021.06.019  0.326
2021 Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, ... ... Milewicz DM, et al. Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional, and research purposes. The Journal of Thoracic and Cardiovascular Surgery. PMID 34304894 DOI: 10.1016/j.jtcvs.2021.05.008  0.363
2021 Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, ... ... Milewicz DM, et al. Summary: International Consensus Statement on Nomenclature and Classification of the Congenital Bicuspid Aortic Valve and Its Aortopathy, for Clinical, Surgical, Interventional and Research Purposes. The Annals of Thoracic Surgery. PMID 34304861 DOI: 10.1016/j.athoracsur.2021.05.001  0.363
2021 Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, ... ... Milewicz DM, et al. International Consensus Statement on Nomenclature and Classification of the Congenital Bicuspid Aortic Valve and Its Aortopathy, for Clinical, Surgical, Interventional and Research Purposes. The Annals of Thoracic Surgery. PMID 34304860 DOI: 10.1016/j.athoracsur.2020.08.119  0.326
2021 Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, ... ... Milewicz DM, et al. International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes. European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association For Cardio-Thoracic Surgery. PMID 34293102 DOI: 10.1093/ejcts/ezab038  0.326
2021 Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, ... ... Milewicz DM, et al. Summary: international consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes. European Journal of Cardio-Thoracic Surgery : Official Journal of the European Association For Cardio-Thoracic Surgery. PMID 34292332 DOI: 10.1093/ejcts/ezab039  0.363
2021 Roychowdhury T, Lu H, Hornsby WE, Crone B, Wang GT, Guo DC, Sendamarai AK, Devineni P, Lin M, Zhou W, Graham SE, Wolford BN, Surakka I, Wang Z, Chang L, ... ... Milewicz DM, et al. Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm. American Journal of Human Genetics. PMID 34265237 DOI: 10.1016/j.ajhg.2021.06.016  0.384
2020 Elbitar S, Renard M, Arnaud P, Hanna N, Jacob MP, Guo DC, Tsutsui K, Gross MS, Kessler K, Tosolini L, Dattilo V, Dupont S, Jonquet J, Langeois M, Benarroch L, ... ... Milewicz D, et al. Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32855533 DOI: 10.1038/S41436-020-00947-4  0.557
2020 van Walree ES, Dombrowsky G, Jansen IE, Mirkov MU, Zwart R, Ilgun A, Guo D, Clur SB, Amin AS, Savage JE, van der Wal AC, Waisfisz Q, Maugeri A, Wilsdon A, Bu'Lock FA, ... ... Milewicz DM, et al. Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32820247 DOI: 10.1038/S41436-020-00939-4  0.434
2020 Musfee FI, Guo D, Pinard AC, Hostetler EM, Blue EE, Nickerson DA, Bamshad MJ, Milewicz DM, Prakash SK. 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. Molecular Genetics & Genomic Medicine. e1406. PMID 32748548 DOI: 10.1002/Mgg3.1406  0.558
2020 Bravo-Jaimes K, Marah NB, Raghunathan D, Napierkowski S, Ekeruo IA, Kitkungvan D, Milewicz DM, Smalling RW, Prakash SK. TGFBR1 Rare Variant Associated With Thoracic Aortic Aneurysm, Double Chamber Left Ventricle, Coronary Anomaly, and Inducible Ventricular Tachycardia. Circulation. Cardiovascular Imaging. 13: e010084. PMID 32482137 DOI: 10.1161/Circimaging.119.010084  0.452
2020 Gong J, Zhou D, Jiang L, Qiu P, Milewicz DM, Eugene Chen Y, Yang B. In Vitro Lineage-Specific Differentiation of Vascular Smooth Muscle Cells in Response to SMAD3 Deficiency: Implications for SMAD3-Related Thoracic Aortic Aneurysm. Arteriosclerosis, Thrombosis, and Vascular Biology. ATVBAHA120313033. PMID 32404006 DOI: 10.1161/Atvbaha.120.313033  0.378
2020 Ren P, Wu D, Appel R, Zhang L, Zhang C, Luo W, Robertson AAB, Cooper MA, Coselli JS, Milewicz DM, Shen YH, LeMaire SA. Targeting the NLRP3 Inflammasome With Inhibitor MCC950 Prevents Aortic Aneurysms and Dissections in Mice. Journal of the American Heart Association. 9: e014044. PMID 32223388 DOI: 10.1161/Jaha.119.014044  0.491
2020 Luo W, Wang Y, Zhang L, Ren P, Zhang C, Li Y, Azares AR, Zhang M, Guo J, Ghaghada KB, Starosolski ZA, Rajapakshe K, Coarfa C, Li Y, Chen R, ... ... Milewicz DM, et al. Critical Role of Cytosolic DNA and Its Sensing Adaptor STING in Aortic Degeneration, Dissection, and Rupture. Circulation. 141: 42-66. PMID 31887080 DOI: 10.1161/Circulationaha.119.041460  0.5
2020 Parker SJ, Orosco A, Guo D, Milewicz DM, Azizzadeh A. Proteomic Analysis of Descending Thoracic Aortic Aneurysms and Dissections to Identify Biomarkers for Surgical Management Journal of Vascular Surgery. 72. DOI: 10.1016/J.Jvs.2020.04.438  0.461
2019 Hanania HL, Regalado ES, Guo DC, Xu L, Demo E, Sallee D, Milewicz DM. Do Variants Predispose to Thoracic Aortic Aneurysms and Dissections? Circulation. Genomic and Precision Medicine. PMID 31731876 DOI: 10.1161/CIRCGEN.119.002626  0.51
2019 Ciuffetelli Alamo IV, Kwartler CS, Regalado ER, Afifi RO, Parkash S, Rideout A, Guo DC, Milewicz DM. Grange syndrome due to homozygous YY1AP1 missense rare variants. American Journal of Medical Genetics. Part A. PMID 31633303 DOI: 10.1002/Ajmg.A.61379  0.377
2019 Frankel WC, Song HK, Milewski RK, Shalhub S, Pugh NL, Eagle KA, Roman MJ, Pyeritz RE, Maslen CL, Ravekes WJ, Milewicz DM, Coselli JS, LeMaire SA. Open Thoracoabdominal Aortic Repair in Patients with Heritable Aortic Disease in the GenTAC Registry. The Annals of Thoracic Surgery. PMID 31568749 DOI: 10.1016/J.Athoracsur.2019.08.047  0.513
2019 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, ... ... Milewicz DM, et al. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31474762 DOI: 10.1038/S41436-019-0639-2  0.351
2019 Schwaerzer GK, Kalyanaraman H, Casteel DE, Dalton ND, Gu Y, Lee S, Zhuang S, Wahwah N, Schilling JM, Patel HH, Zhang Q, Makino A, Milewicz DM, Peterson KL, Boss GR, et al. Aortic pathology from protein kinase G activation is prevented by an antioxidant vitamin B analog. Nature Communications. 10: 3533. PMID 31387997 DOI: 10.1038/S41467-019-11389-1  0.48
2019 Shalhub S, Roman MJ, Eagle KA, LeMaire SA, Zhang Q, Evangelista A, Milewicz DM. Type B aortic dissection in young individuals with confirmed and presumed Heritable Thoracic Aortic Disease. The Annals of Thoracic Surgery. PMID 31376376 DOI: 10.1016/J.Athoracsur.2019.07.004  0.568
2019 Shalhub S, Byers PH, Hicks KL, Coleman DM, Davis FM, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, Nishikawa C, Charlton-Ouw K, Behrendt CA, ... ... Milewicz DM, et al. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis. Journal of Vascular Surgery. PMID 31353273 DOI: 10.1016/J.Jvs.2019.04.487  0.434
2019 Wolford BN, Hornsby WE, Guo D, Zhou W, Lin M, Farhat L, McNamara J, Driscoll A, Wu X, Schmidt EM, Norton EL, Mathis MR, Ganesh SK, Douville NJ, Brummett CM, ... ... Milewicz DM, et al. Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection. Circulation. Genomic and Precision Medicine. 12: e002476. PMID 31211624 DOI: 10.1161/CIRCGEN.118.002476  0.461
2019 Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, Davis FM, Regalado ES, De Caridi G, Weaver KN, Miller EM, Schermerhorn ML, Shean K, Oderich G, Ribeiro M, ... ... Milewicz DM, et al. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. Journal of Vascular Surgery. PMID 31126764 DOI: 10.1016/J.Jvs.2019.01.069  0.457
2019 Hofmann Bowman MA, Eagle KA, Milewicz DM. Update on Clinical Trials of Losartan With and Without β-Blockers to Block Aneurysm Growth in Patients With Marfan Syndrome: A Review. Jama Cardiology. PMID 31066871 DOI: 10.1001/Jamacardio.2019.1176  0.493
2019 Shalhub S, Regalado ES, Guo DC, Milewicz DM. The natural history of type B aortic dissection in patients with PRKG1 mutation c.530G>A (p.Arg177Gln). Journal of Vascular Surgery. PMID 30871887 DOI: 10.1016/J.Jvs.2018.12.032  0.525
2019 Duan XY, Guo DC, Regalado ES, Shen H, Coselli JS, Estrera AL, Safi HJ, Bamshad MJ, Nickerson DA, LeMaire SA, De Backer J, Milewicz DM. SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections. European Journal of Human Genetics : Ejhg. PMID 30809044 DOI: 10.1038/S41431-019-0357-X  0.562
2019 Shalhub S, Neptune E, Sanchez DE, Dua A, Arellano N, McDonnell NB, Milewicz DM. Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. American Journal of Medical Genetics. Part A. PMID 30793832 DOI: 10.1002/Ajmg.A.61094  0.363
2019 Pinard A, Jones GT, Milewicz DM. Genetics of Thoracic and Abdominal Aortic Diseases. Circulation Research. 124: 588-606. PMID 30763214 DOI: 10.1161/Circresaha.118.312436  0.552
2019 Renard M, Milewicz DM, De Backer J. Reply: More Genes for Thoracic Aortic Aneurysms and Dissections. Journal of the American College of Cardiology. 73: 529-530. PMID 30704587 DOI: 10.1016/J.Jacc.2018.11.027  0.523
2019 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, ... ... Milewicz DM, et al. pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium. Journal of Medical Genetics. PMID 30661052 DOI: 10.1136/Jmedgenet-2018-105583  0.543
2019 Milewicz DM, Ramirez F. Therapies for Thoracic Aortic Aneurysms and Acute Aortic Dissections. Arteriosclerosis, Thrombosis, and Vascular Biology. ATVBAHA118310956. PMID 30651002 DOI: 10.1161/Atvbaha.118.310956  0.549
2019 Zhou Z, Peters AM, Wang S, Janda A, Chen J, Zhou P, Arthur E, Kwartler CS, Milewicz DM. Reversal of Aortic Enlargement Because of Increased Biomechanical Forces Requires AT1R (Angiotensin II Type 1 Receptor) Inhibition in Conjunction With AT2R (Angiotensin II Type 2 Receptor) Activation. Arteriosclerosis, Thrombosis, and Vascular Biology. ATVBAHA118312158. PMID 30602301 DOI: 10.1161/Atvbaha.118.312158  0.443
2019 Rommens KL, Sandhu HK, Miller CC, Prakash SK, Milewicz DM, Estrera AL, Safi HJ, Afifi RO. RS20. Outcomes of Women in Childbearing Age With Aortic Dissection: Results From a Single-Center Database Journal of Vascular Surgery. 69: e203. DOI: 10.1016/J.Jvs.2019.04.293  0.326
2018 Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, ... ... Milewicz DM, et al. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. Journal of the American College of Cardiology. 72: 605-615. PMID 30071989 DOI: 10.1016/J.Jacc.2018.04.089  0.559
2018 Kwartler CS, Gong L, Chen J, Wang S, Kulmacz R, Duan XY, Janda A, Huang J, Kamm KE, Stull JT, Guo D, Milewicz DM. Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants". American Journal of Human Genetics. PMID 29961567 DOI: 10.1016/J.Ajhg.2018.05.012  0.551
2018 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, ... ... Milewicz DM, et al. MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29925964 DOI: 10.1038/S41436-018-0038-0  0.438
2018 Gupta-Malhotra M, Hashmi SS, Barratt MS, Milewicz DM, Shete S. Familial aggregation of first degree relatives of children with essential hypertension. Blood Pressure. 1-8. PMID 29699426 DOI: 10.1080/08037051.2018.1463818  0.319
2018 Tan KL, Haelterman NA, Kwartler CS, Regalado ES, Lee PT, Nagarkar-Jaiswal S, Guo DC, Duraine L, Wangler MF, Bamshad MJ, Nickerson DA, Lin G, Milewicz DM, Bellen HJ. Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Developmental Cell. 45: 226-244.e8. PMID 29689197 DOI: 10.1016/J.Devcel.2018.03.020  0.468
2018 Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK, Leal SM, Bamshad MJ, Nickerson DA, ... ... Milewicz DM, et al. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. American Journal of Human Genetics. 102: 706-712. PMID 29625025 DOI: 10.1016/J.Ajhg.2018.03.002  0.595
2018 Shalhub S, Eagle KA, Asch FM, LeMaire SA, Milewicz DM. Endovascular thoracic aortic repair in confirmed or suspected genetically triggered thoracic aortic dissection. Journal of Vascular Surgery. PMID 29567025 DOI: 10.1016/J.Jvs.2017.11.095  0.534
2018 Shalata A, Mahroom M, Milewicz DM, Limin G, Kassum F, Badarna K, Tarabeih N, Assy N, Fell R, Cohen H, Nashashibi M, Livoff A, Azab M, Habib G, Geiger D, et al. Fatal thoracic aortic aneurysm and dissection in a large family with a novel MYLK gene mutation: delineation of the clinical phenotype. Orphanet Journal of Rare Diseases. 13: 41. PMID 29544503 DOI: 10.1186/S13023-018-0769-7  0.609
2018 Helgadottir A, Thorleifsson G, Gretarsdottir S, Stefansson OA, Tragante V, Thorolfsdottir RB, Jonsdottir I, Bjornsson T, Steinthorsdottir V, Verweij N, Nielsen JB, Zhou W, Folkersen L, Martinsson A, Heydarpour M, ... ... Milewicz D, et al. Genome-wide analysis yields new loci associating with aortic valve stenosis. Nature Communications. 9: 987. PMID 29511194 DOI: 10.1038/S41467-018-03252-6  0.411
2018 Huang J, Gao N, Wang S, Milewicz DM, Kamm KE, Stull JT. Genetic approaches to identify pathological limitations in aortic smooth muscle contraction. Plos One. 13: e0193769. PMID 29494672 DOI: 10.1371/Journal.Pone.0193769  0.431
2018 Michel JB, Jondeau G, Milewicz DM. From genetics to response to injury: vascular smooth muscle cells in aneurysms and dissections of the ascending aorta. Cardiovascular Research. PMID 29360940 DOI: 10.1093/Cvr/Cvy006  0.51
2018 Robinet P, Milewicz DM, Cassis LA, Leeper NJ, Lu HS, Smith JD. Consideration of Sex Differences in Design and Reporting of Experimental Arterial Pathology Studies-Statement From ATVB Council. Arteriosclerosis, Thrombosis, and Vascular Biology. PMID 29301789 DOI: 10.1161/Atvbaha.117.309524  0.343
2018 Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC, Ades L, Benedict S, Bradley TJ, Brickner ME, Chatfield KC, Child A, Feist C, Holmes KW, Iannucci G, Lorenz B, Mark P, ... ... Milewicz DM, et al. Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29300374 DOI: 10.1038/Gim.2017.245  0.458
2018 Prakash SK, Milewicz DM. X Marks the Spot: The Profound Impact of Sex on Aortic Disease. Arteriosclerosis, Thrombosis, and Vascular Biology. 38: 9-11. PMID 29282246 DOI: 10.1161/Atvbaha.117.310433  0.511
2018 Zhou Z, Peters AM, Wang S, Chen J, Arthur E, Milewicz DM. Abstract 115: AT2 Receptor Regulates Ascending Aortic Dilation during AT1 Receptor Blockade in Transverse Aortic Constriction Mouse Model Arteriosclerosis, Thrombosis, and Vascular Biology. 38. DOI: 10.1161/Atvb.38.Suppl_1.115  0.413
2018 Morris S, Dodd NA, Spurzem GN, Milewicz D, D'Alessandro LC. ARTERIAL TORTUOSITY AND CARDIOVASCULAR OUTCOMES IN WILLIAMS SYNDROME AND NON-WILLIAMS SUPRAVALVAR AORTIC STENOSIS Journal of the American College of Cardiology. 71: A584. DOI: 10.1016/S0735-1097(18)31125-2  0.421
2017 Guo DC, Hostetler EM, Fan Y, Kulmacz RJ, Zhang D, Nickerson DA, Leal SM, LeMaire SA, Regalado ES, Milewicz DM. Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection. Journal of the American College of Cardiology. 70: 2728-2730. PMID 29169482 DOI: 10.1016/J.Jacc.2017.09.1094  0.532
2017 Ren P, Hughes M, Krishnamoorthy S, Zou S, Zhang L, Wu D, Zhang C, Curci JA, Coselli JS, Milewicz DM, LeMaire SA, Shen YH. Critical Role of ADAMTS-4 in the Development of Sporadic Aortic Aneurysm and Dissection in Mice. Scientific Reports. 7: 12351. PMID 28955046 DOI: 10.1038/S41598-017-12248-Z  0.5
2017 Ijaz T, Sun H, Pinchuk IV, Milewicz DM, Tilton RG, Brasier AR. Deletion of NF-κB/RelA in Angiotensin II-Sensitive Mesenchymal Cells Blocks Aortic Vascular Inflammation and Abdominal Aortic Aneurysm Formation. Arteriosclerosis, Thrombosis, and Vascular Biology. PMID 28818856 DOI: 10.1161/Atvbaha.117.309863  0.442
2017 Krepp JM, Roman MJ, Devereux RB, Bruce A, Prakash SK, Morris SA, Milewicz DM, Holmes KW, Ravekes W, Shohet RV, Pyeritz RE, Maslen CL, Kroner BL, Eagle KA, Preiss L, et al. Bicuspid and unicuspid aortic valves: Different phenotypes of the same disease? Insight from the GenTAC Registry. Congenital Heart Disease. PMID 28805011 DOI: 10.1111/chd.12520  0.418
2017 Liu Z, Chang AN, Grinnell F, Trybus KM, Milewicz DM, Stull JT, Kamm KE. Vascular disease-causing mutation, smooth muscle α-actin R258C, dominantly suppresses functions of α-actin in human patient fibroblasts. Proceedings of the National Academy of Sciences of the United States of America. PMID 28652363 DOI: 10.1073/Pnas.1703506114  0.402
2017 Roman MJ, Devereux RB, Preiss LR, Asch FM, Eagle KA, Holmes KW, LeMaire SA, Maslen CL, Milewicz DM, Morris SA, Prakash SK, Pyeritz RE, Ravekes WJ, Shohet RV, Song HK, et al. Associations of Age and Sex With Marfan Phenotype: The National Heart, Lung, and Blood Institute GenTAC (Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions) Registry. Circulation. Cardiovascular Genetics. 10. PMID 28600386 DOI: 10.1161/Circgenetics.116.001647  0.42
2017 Humphrey JD, Milewicz DM. Aging, Smooth Muscle Vitality, and Aortic Integrity. Circulation Research. 120: 1849-1851. PMID 28596165 DOI: 10.1161/Circresaha.117.311075  0.431
2017 Yang B, Zhou W, Jiao J, Nielsen JB, Mathis MR, Heydarpour M, Lettre G, Folkersen L, Prakash S, Schurmann C, Fritsche L, Farnum GA, Lin M, Othman M, Hornsby W, ... ... Milewicz DM, et al. Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. Nature Communications. 8: 15481. PMID 28541271 DOI: 10.1038/Ncomms15481  0.428
2017 Bellini C, Bersi MR, Caulk AW, Ferruzzi J, Milewicz DM, Ramirez F, Rifkin DB, Tellides G, Yanagisawa H, Humphrey JD. Comparison of 10 murine models reveals a distinct biomechanical phenotype in thoracic aortic aneurysms. Journal of the Royal Society, Interface. 14. PMID 28490606 DOI: 10.1098/Rsif.2016.1036  0.524
2017 Chen J, Peters AM, Papke CL, Villamizar C, Ringuette LJ, Cao JM, Wang S, Ma S, Gong L, Byanova K, Xiong J, Zhu MX, Madonna R, Kee P, Geng YJ, ... ... Milewicz DM, et al. Loss of Smooth Muscle α-actin Leads to NF-κB-Dependent Increased Sensitivity to Angiontensin II in Smooth Muscle Cells and Aortic Enlargement. Circulation Research. PMID 28461455 DOI: 10.1161/Circresaha.117.310563  0.427
2017 Wu D, Ren P, Zheng Y, Zhang L, Xu G, Xie W, Lloyd EE, Zhang S, Zhang Q, Curci JA, Coselli JS, Milewicz DM, Shen YH, LeMaire SA. NLRP3 (Nucleotide Oligomerization Domain-Like Receptor Family, Pyrin Domain Containing 3)-Caspase-1 Inflammasome Degrades Contractile Proteins: Implications for Aortic Biomechanical Dysfunction and Aneurysm and Dissection Formation. Arteriosclerosis, Thrombosis, and Vascular Biology. PMID 28153878 DOI: 10.1161/Atvbaha.116.307648  0.468
2017 Milewicz DM, Prakash SK, Ramirez F. Therapeutics Targeting Drivers of Thoracic Aortic Aneurysms and Acute Aortic Dissections: Insights from Predisposing Genes and Mouse Models. Annual Review of Medicine. 68: 51-67. PMID 28099082 DOI: 10.1146/Annurev-Med-100415-022956  0.539
2017 Oller J, Méndez-Barbero N, Ruiz EJ, Villahoz S, Renard M, Canelas LI, Briones AM, Alberca R, Lozano-Vidal N, Hurlé MA, Milewicz D, Evangelista A, Salaices M, Nistal JF, Jiménez-Borreguero LJ, et al. Nitric oxide mediates aortic disease in mice deficient in the metalloprotease Adamts1 and in a mouse model of Marfan syndrome. Nature Medicine. 23: 200-212. PMID 28067899 DOI: 10.1038/Nm.4266  0.44
2016 Siddiqi HK, Luminais SN, Montgomery D, Bossone E, Dietz H, Evangelista A, Isselbacher E, LeMaire S, Manfredini R, Milewicz D, Nienaber CA, Roman M, Sechtem U, Silberbach M, Eagle KA, et al. Chronobiology of Acute Aortic Dissection in the Marfan Syndrome (from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions and the International Registry of Acute Aortic Dissection). The American Journal of Cardiology. PMID 28065489 DOI: 10.1016/J.Amjcard.2016.11.021  0.478
2016 Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BB, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML, Bamshad MJ, ... ... Milewicz DM, et al. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. American Journal of Human Genetics. PMID 27939641 DOI: 10.1016/J.Ajhg.2016.11.008  0.425
2016 Santiago-Sim T, Fang X, Hennessy ML, Nalbach SV, DePalma SR, Lee MS, Greenway SC, McDonough B, Hergenroeder GW, Patek KJ, Colosimo SM, Qualmann KJ, Hagan JP, Milewicz DM, MacRae CA, et al. THSD1 (Thrombospondin Type 1 Domain Containing Protein 1) Mutation in the Pathogenesis of Intracranial Aneurysm and Subarachnoid Hemorrhage. Stroke. 47: 3005-3013. PMID 27895300 DOI: 10.1161/Strokeaha.116.014161  0.527
2016 Jondeau G, Ropers J, Regalado E, Braverman A, Evangelista A, Teixido G, De Backer J, Muiño-Mosquera L, Naudion S, Zordan C, Morisaki T, Morisaki H, Von Kodolitsch Y, Dupuis-Girod S, Morris SA, ... ... Milewicz DM, et al. International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium. Circulation. Cardiovascular Genetics. PMID 27879313 DOI: 10.1161/Circgenetics.116.001485  0.553
2016 Milewicz DM, Trybus KM, Guo D, Sweeney HL, Regalado E, Kamm K, Stull JT. Altered Smooth Muscle Cell Force Generation as a Driver of Thoracic Aortic Aneurysms and Dissections. Arteriosclerosis, Thrombosis, and Vascular Biology. PMID 27879251 DOI: 10.1161/Atvbaha.116.303229  0.51
2016 Prakash SK, Bondy CA, Maslen CL, Silberbach M, Lin AE, Perrone L, Limongelli G, Michelena HI, Bossone E, Citro R, Lemaire SA, Body SC, Milewicz DM. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry. American Journal of Medical Genetics. Part A. PMID 27604636 DOI: 10.1002/ajmg.a.37953  0.33
2016 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, ... ... Milewicz DM, et al. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. American Journal of Human Genetics. PMID 27569546 DOI: 10.1016/J.Ajhg.2016.06.034  0.488
2016 Roman MJ, Pugh NL, Hendershot TP, Devereux RB, Dietz H, Holmes K, Eagle KA, LeMaire SA, Milewicz DM, Morris SA, Pyeritz RE, Ravekes WJ, Shohet RV, Silberbach M. Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). Journal of the American Heart Association. 5. PMID 27515814 DOI: 10.1161/Jaha.116.004052  0.477
2016 van 't Hof FN, Ruigrok YM, Lee CH, Ripke S, Anderson G, de Andrade M, Baas AF, Blankensteijn JD, Böttinger EP, Bown MJ, Broderick J, Bijlenga P, Carrell DS, Crawford DC, Crosslin DR, ... ... Milewicz DM, et al. Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. Journal of the American Heart Association. 5. PMID 27418160 DOI: 10.1161/Jaha.115.002603  0.542
2016 Jiao J, Xiong W, Wang L, Yang J, Qiu P, Hirai H, Shao L, Milewicz D, Chen YE, Yang B. Differentiation defect in neural crest-derived smooth muscle cells in patients with aortopathy associated with bicuspid aortic valves. Ebiomedicine. PMID 27394642 DOI: 10.1016/J.Ebiom.2016.06.045  0.454
2016 Weinsaft JW, Devereux RB, Preiss LR, Feher A, Roman MJ, Basson CT, Geevarghese A, Ravekes W, Dietz HC, Holmes K, Habashi J, Pyeritz RE, Bavaria J, Milewski K, LeMaire SA, ... ... Milewicz DM, et al. Aortic Dissection in Patients With Genetically Mediated Aneurysms: Incidence and Predictors in the GenTAC Registry. Journal of the American College of Cardiology. 67: 2744-54. PMID 27282895 DOI: 10.1016/J.Jacc.2016.03.570  0.522
2016 Prakash S, Kuang SQ, Regalado E, Guo D, Milewicz D. Recurrent Rare Genomic Copy Number Variants and Bicuspid Aortic Valve Are Enriched in Early Onset Thoracic Aortic Aneurysms and Dissections. Plos One. 11: e0153543. PMID 27092555 DOI: 10.1371/Journal.Pone.0153543  0.56
2016 Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, ... ... Milewicz DM, et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. The Journal of Clinical Investigation. PMID 26854927 DOI: 10.1172/Jci83778  0.595
2016 Guo D, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera AL, Safi HJ, Leal SM, Bamshad MJ, ... ... Milewicz DM, et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circulation Research. PMID 26838787 DOI: 10.1161/Circresaha.115.307130  0.589
2016 Milewicz DM, Hostetler E, Wallace S, Mellor-Crummey L, Gong L, Pannu H, Guo DC, Regalado E. Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene. The Journal of Cardiovascular Surgery. PMID 26837258  0.469
2016 Wallace S, Guo DC, Regalado E, Mellor-Crummey L, Banshad M, Nickerson DA, Dauser R, Hanchard N, Marom R, Martin E, Berka V, Sharina I, Ganesan V, Saunders D, Morris S, ... Milewicz DM, et al. Disrupted Nitric Oxide Signaling due to GUCY1A3 Mutations Increases Risk for Moyamoya Disease, Achalasia and Hypertension. Clinical Genetics. PMID 26777256 DOI: 10.1111/Cge.12739  0.404
2016 Karimi A, Milewicz DM. Structure of the Elastin-Contractile Units in the Thoracic Aorta and How Genes That Cause Thoracic Aortic Aneurysms and Dissections Disrupt This Structure. The Canadian Journal of Cardiology. 32: 26-34. PMID 26724508 DOI: 10.1016/J.Cjca.2015.11.004  0.462
2016 Gupta-Malhotra M, Hashmi SS, Barratt MS, Milewicz DM, Shete S. Childhood-Onset Essential Hypertension and the Family Structure. Journal of Clinical Hypertension (Greenwich, Conn.). 18: 431-8. PMID 26435293 DOI: 10.1111/Jch.12701  0.322
2016 Guo Dc, Regalado ES, Gong L, Duan X, Santos-Cortez RLP, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera A, Safi HJ, Leal SM, Bamshad MJ, ... ... Milewicz DM, et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections Circulation Research. DOI: 10.1161/CIRCRESAHA.115.307130  0.481
2016 Shalhub S, LeMaire SA, Eagle KA, Pugh N, Milewicz DM. PC006. Fate of the Descending Thoracic Aorta After DeBakey Type I Aortic Dissection in Patients With Genetically Triggered Thoracic Aortic Disease Journal of Vascular Surgery. 63: 154S. DOI: 10.1016/J.Jvs.2016.03.263  0.529
2015 Georgescu MM, Pinho Mda C, Richardson TE, Torrealba J, Buja LM, Milewicz DM, Raisanen JM, Burns DK. The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease. Acta Neuropathologica Communications. 3: 81. PMID 26637293 DOI: 10.1186/S40478-015-0262-7  0.401
2015 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, ... Milewicz DM, et al. Pathogenic FBN1 Variants in Familial Thoracic Aortic Aneurysms and Dissections. Clinical Genetics. PMID 26621581 DOI: 10.1111/Cge.12702  0.567
2015 Michelena HI, Corte AD, Prakash SK, Milewicz DM, Evangelista A, Enriquez-Sarano M. Bicuspid aortic valve aortopathy in adults: Incidence, etiology, and clinical significance. International Journal of Cardiology. 201: 400-407. PMID 26310986 DOI: 10.1016/J.Ijcard.2015.08.106  0.493
2015 Micha D, Guo DC, Hilhorst-Hofstee Y, van Kooten F, Atmaja D, Overwater E, Cayami FK, Regalado ES, van Uffelen R, Venselaar H, Faradz SM, Vriend G, Weiss MM, Sistermans EA, Maugeri A, ... Milewicz DM, et al. SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections. Human Mutation. PMID 26247899 DOI: 10.1002/Humu.22854  0.494
2015 Starosolski Z, Villamizar CA, Rendon D, Paldino MJ, Milewicz DM, Ghaghada KB, Annapragada AV. Ultra High-Resolution In vivo Computed Tomography Imaging of Mouse Cerebrovasculature Using a Long Circulating Blood Pool Contrast Agent. Scientific Reports. 5: 10178. PMID 25985192 DOI: 10.1038/Srep10178  0.311
2015 Martín-Alonso M, García-Redondo AB, Guo D, Camafeita E, Martínez F, Alfranca A, Méndez-Barbero N, Pollán Á, Sánchez-Camacho C, Denhardt DT, Seiki M, Vázquez J, Salaices M, Redondo JM, Milewicz D, et al. Deficiency of MMP17/MT4-MMP proteolytic activity predisposes to aortic aneurysm in mice. Circulation Research. 117: e13-26. PMID 25963716 DOI: 10.1161/Circresaha.117.305108  0.495
2015 Humphrey JD, Schwartz MA, Tellides G, Milewicz DM. Role of mechanotransduction in vascular biology: focus on thoracic aortic aneurysms and dissections. Circulation Research. 116: 1448-61. PMID 25858068 DOI: 10.1161/Circresaha.114.304936  0.511
2015 Frischhertz BP, Shamszad P, Pedroza C, Milewicz DM, Morris SA. Thoracic aortic dissection and rupture in conotruncal cardiac defects: A population-based study. International Journal of Cardiology. 184: 521-7. PMID 25767008 DOI: 10.1016/J.Ijcard.2015.03.061  0.447
2015 Regalado ES, Guo DC, Prakash S, Bensend TA, Flynn K, Estrera A, Safi H, Liang D, Hyland J, Child A, Arno G, Boileau C, Jondeau G, Braverman A, Moran R, ... ... Milewicz DM, et al. Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. Circulation. Cardiovascular Genetics. 8: 457-64. PMID 25759435 DOI: 10.1161/Circgenetics.114.000943  0.575
2015 Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, ... ... Milewicz DM, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. American Journal of Human Genetics. 96: 170-7. PMID 25557781 DOI: 10.1016/J.Ajhg.2014.11.015  0.581
2015 Bellini C, Wang S, Milewicz DM, Humphrey JD. Myh11(R247C/R247C) mutations increase thoracic aorta vulnerability to intramural damage despite a general biomechanical adaptivity. Journal of Biomechanics. 48: 113-21. PMID 25433566 DOI: 10.1016/J.Jbiomech.2014.10.031  0.575
2015 Milewicz DM, Regalado ES. Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there? The Journal of Thoracic and Cardiovascular Surgery. 149: S3-5. PMID 25218541 DOI: 10.1016/J.Jtcvs.2014.07.070  0.542
2015 Morris SA, Payne WA, Sami S, Wang Y, LeMaire SA, Tyson JE, Krishnamurthy R, Milewicz DM. Arterial tortuosity and change with age in young patients with aortopathy Journal of Cardiovascular Magnetic Resonance. 1-2. DOI: 10.1186/1532-429X-17-S1-P403  0.435
2014 Barbier M, Gross MS, Aubart M, Hanna N, Kessler K, Guo DC, Tosolini L, Ho-Tin-Noe B, Regalado E, Varret M, Abifadel M, Milleron O, Odent S, Dupuis-Girod S, Faivre L, ... ... Milewicz DM, et al. MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. American Journal of Human Genetics. 95: 736-43. PMID 25434006 DOI: 10.1016/J.Ajhg.2014.10.018  0.53
2014 Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ, Grotta JC, Nickerson DA, Pannu H, ... Milewicz DM, et al. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke; a Journal of Cerebral Circulation. 45: 3200-7. PMID 25278557 DOI: 10.1161/Strokeaha.114.006244  0.318
2014 Prakash SK, Bossé Y, Muehlschlegel JD, Michelena HI, Limongelli G, Della Corte A, Pluchinotta FR, Russo MG, Evangelista A, Benson DW, Body SC, Milewicz DM. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). Journal of the American College of Cardiology. 64: 832-9. PMID 25145529 DOI: 10.1016/J.Jacc.2014.04.073  0.498
2014 Lin AE, Prakash S, Milewicz DM. Aortic dilatation with bicuspid aortic valve. The New England Journal of Medicine. 371: 683. PMID 25119620 DOI: 10.1056/Nejmc1407391  0.501
2014 Pyeritz R, Jondeau G, Moran R, De Backer J, Arbustini E, De Paepe A, Milewicz D. Loeys-Dietz syndrome is a specific phenotype and not a concomitant of any mutation in a gene involved in TGF-β signaling Genetics in Medicine. 16: 641-642. PMID 25093568 DOI: 10.1038/Gim.2014.63  0.374
2014 Michelena HI, Prakash SK, Della Corte A, Bissell MM, Anavekar N, Mathieu P, Bossé Y, Limongelli G, Bossone E, Benson DW, Lancellotti P, Isselbacher EM, Enriquez-Sarano M, Sundt TM, Pibarot P, ... ... Milewicz DM, et al. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation. 129: 2691-704. PMID 24958752 DOI: 10.1161/Circulationaha.113.007851  0.49
2014 Humphrey JD, Milewicz DM, Tellides G, Schwartz MA. Cell biology. Dysfunctional mechanosensing in aneurysms. Science (New York, N.Y.). 344: 477-9. PMID 24786066 DOI: 10.1126/Science.1253026  0.399
2014 Ganesh SK, Morissette R, Xu Z, Schoenhoff F, Griswold BF, Yang J, Tong L, Yang ML, Hunker K, Sloper L, Kuo S, Raza R, Milewicz DM, Francomano CA, Dietz HC, et al. Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-β expression and connective tissue features Faseb Journal. 28: 3313-3324. PMID 24732132 DOI: 10.1096/Fj.14-251207  0.331
2014 Kwartler CS, Chen J, Thakur D, Li S, Baskin K, Wang S, Wang ZV, Walker L, Hill JA, Epstein HF, Taegtmeyer H, Milewicz DM. Overexpression of smooth muscle myosin heavy chain leads to activation of the unfolded protein response and autophagic turnover of thick filament-associated proteins in vascular smooth muscle cells. The Journal of Biological Chemistry. 289: 14075-88. PMID 24711452 DOI: 10.1074/Jbc.M113.499277  0.351
2014 Coselli JS, Volguina IV, LeMaire SA, Sundt TM, Connolly HM, Stephens EH, Schaff HV, Milewicz DM, Vricella LA, Dietz HC, Minard CG, Miller DC. Early and 1-year outcomes of aortic root surgery in patients with Marfan syndrome: a prospective, multicenter, comparative study. The Journal of Thoracic and Cardiovascular Surgery. 147: 1758-66, 1767.e1-4. PMID 24655904 DOI: 10.1016/J.Jtcvs.2014.02.021  0.474
2014 Shalhub S, Black JH, Cecchi AC, Xu Z, Griswold BF, Safi HJ, Milewicz DM, McDonnell NB. Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. Journal of Vascular Surgery. 60: 160-9. PMID 24650746 DOI: 10.1016/J.Jvs.2014.01.070  0.47
2014 Milewicz DM, Reid AJ, Cecchi AC. Vascular Ehlers-Danlos syndrome: exploring the role of inflammation in arterial disease. Circulation. Cardiovascular Genetics. 7: 5-7. PMID 24550430 DOI: 10.1161/Circgenetics.114.000507  0.406
2014 Albini PT, Segura AM, Liu G, Minard CG, Coselli JS, Milewicz DM, Shen YH, LeMaire SA. Advanced atherosclerosis is associated with increased medial degeneration in sporadic ascending aortic aneurysms. Atherosclerosis. 232: 361-8. PMID 24468149 DOI: 10.1016/J.Atherosclerosis.2013.10.035  0.551
2014 Ju X, Ijaz T, Sun H, Lejeune W, Vargas G, Shilagard T, Recinos A, Milewicz DM, Brasier AR, Tilton RG. IL-6 regulates extracellular matrix remodeling associated with aortic dilation in a fibrillin-1 hypomorphic mgR/mgR mouse model of severe Marfan syndrome. Journal of the American Heart Association. 3: e000476. PMID 24449804 DOI: 10.1161/Jaha.113.000476  0.368
2014 Regalado ES, Guo DC, Estrera AL, Buja LM, Milewicz DM. Acute aortic dissections with pregnancy in women with ACTA2 mutations. American Journal of Medical Genetics. Part A. 164: 106-12. PMID 24243736 DOI: 10.1002/Ajmg.A.36208  0.448
2014 Milewicz DM, Regalado ES, Shendure J, Nickerson DA, Guo DC. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends in Cardiovascular Medicine. 24: 53-60. PMID 23953976 DOI: 10.1016/J.Tcm.2013.06.004  0.604
2014 Morris SA, Payne WA, Lacro RV, Maskatia SA, Masand P, Noel CV, Milewicz DM, Krishnamurthy R. Vertebral artery tortuosity in Turner syndrome: is tortuosity a component of the aortopathy phenotype? Journal of Cardiovascular Magnetic Resonance. 16. DOI: 10.1186/1532-429X-16-S1-P115  0.505
2014 Asch FM, Devereux R, Roman M, Islam F, Silberbach M, Song H, Pyeritz R, Bavaria J, Ravekes W, Holmes K, Milewicz D, Prakash S, LeMaire SA, McDonnell NB, Eagle K, et al. INCIDENCE AND STRUCTURAL PREDICTORS OF AORTIC DISSECTION AMONG PATIENTS WITH GENETICALLY MEDIATED AORTIC ANEURYSMS: MULTICENTER FOLLOW-UP RESULTS FROM THE GENTAC (NATIONAL REGISTRY OF GENETICALLY TRIGGERED THORACIC AORTIC ANEURYSMS AND CARDIOVASCULAR CONDITIONS) REGISTRY Journal of the American College of Cardiology. 63: A2031. DOI: 10.1016/S0735-1097(14)62034-9  0.451
2013 Vincent LM, Tran S, Livaja R, Bensend TA, Milewicz DM, Dahlbäck B. Coagulation factor V(A2440G) causes east Texas bleeding disorder via TFPIα. The Journal of Clinical Investigation. 123: 3777-87. PMID 23979162 DOI: 10.1172/Jci69091  0.712
2013 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, ... ... Milewicz DM, et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. American Journal of Human Genetics. 93: 398-404. PMID 23910461 DOI: 10.1016/J.Ajhg.2013.06.019  0.593
2013 Cecchi A, Ogawa N, Martinez HR, Carlson A, Fan Y, Penny DJ, Guo DC, Eisenberg S, Safi H, Estrera A, Lewis RA, Meyers D, Milewicz DM. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. American Journal of Medical Genetics. Part A. 161: 2305-10. PMID 23897642 DOI: 10.1002/Ajmg.A.36044  0.508
2013 Kuang SQ, Geng L, Prakash SK, Cao JM, Guo S, Villamizar C, Kwartler CS, Peters AM, Brasier AR, Milewicz DM. Aortic remodeling after transverse aortic constriction in mice is attenuated with AT1 receptor blockade. Arteriosclerosis, Thrombosis, and Vascular Biology. 33: 2172-9. PMID 23868934 DOI: 10.1161/Atvbaha.113.301624  0.511
2013 Ju X, Ijaz T, Sun H, Ray S, Lejeune W, Lee C, Recinos A, Guo DC, Milewicz DM, Tilton RG, Brasier AR. Interleukin-6-signal transducer and activator of transcription-3 signaling mediates aortic dissections induced by angiotensin II via the T-helper lymphocyte 17-interleukin 17 axis in C57BL/6 mice. Arteriosclerosis, Thrombosis, and Vascular Biology. 33: 1612-21. PMID 23685554 DOI: 10.1161/Atvbaha.112.301049  0.319
2013 Papke CL, Cao J, Kwartler CS, Villamizar C, Byanova KL, Lim SM, Sreenivasappa H, Fischer G, Pham J, Rees M, Wang M, Chaponnier C, Gabbiani G, Khakoo AY, Chandra J, ... ... Milewicz DM, et al. Smooth muscle hyperplasia due to loss of smooth muscle α-actin is driven by activation of focal adhesion kinase, altered p53 localization and increased levels of platelet-derived growth factor receptor-β. Human Molecular Genetics. 22: 3123-37. PMID 23591991 DOI: 10.1093/Hmg/Ddt167  0.38
2013 Holmes KW, Maslen CL, Kindem M, Kroner BL, Song HK, Ravekes W, Dietz HC, Weinsaft JW, Roman MJ, Devereux RB, Pyeritz RE, Bavaria J, Milewski K, Milewicz D, LeMaire SA, et al. GenTAC registry report: gender differences among individuals with genetically triggered thoracic aortic aneurysm and dissection. American Journal of Medical Genetics. Part A. 161: 779-86. PMID 23444191 DOI: 10.1002/Ajmg.A.35836  0.522
2013 Teekakirikul P, Milewicz DM, Miller DT, Lacro RV, Regalado ES, Rosales AM, Ryan DP, Toler TL, Lin AE. Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. American Journal of Medical Genetics. Part A. 161: 185-91. PMID 23239472 DOI: 10.1002/Ajmg.A.35659  0.605
2013 Shalhub S, McDonnel N, Cecchi AC, Azizzadeh A, Charlton-Ouw KM, Black J, Pyeritz R, Estrera AL, Safi H, Milewicz D. COL3A1 Gene Mutation Predicts Arterial Involvement and Prognosis in Vascular Ehlers Danlos Syndrome Journal of Vascular Surgery. 57: 25S-26S. DOI: 10.1016/J.Jvs.2013.02.251  0.394
2013 Prakash SK, Lemaire SA, Guo D, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW. Erratum: Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections (The American Journal of Human Genetics (2010) 87 (743-756)) American Journal of Human Genetics. 92. DOI: 10.1016/J.Ajhg.2013.05.013  0.497
2012 Prakash SK, Pedroza C, Khalil YA, Milewicz DM. Diabetes and reduced risk for thoracic aortic aneurysms and dissections: a nationwide case-control study. Journal of the American Heart Association. 1. PMID 23130125 DOI: 10.1161/Jaha.111.000323  0.31
2012 Munot P, Saunders DE, Milewicz DM, Regalado ES, Ostergaard JR, Braun KP, Kerr T, Lichtenbelt KD, Philip S, Rittey C, Jacques TS, Cox TC, Ganesan V. A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. Brain : a Journal of Neurology. 135: 2506-14. PMID 22831780 DOI: 10.1093/Brain/Aws172  0.451
2012 Moller HU, Fledelius HC, Milewicz DM, Regalado ES, Ostergaard JR. Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome. The British Journal of Ophthalmology. 96: 1227-31. PMID 22790431 DOI: 10.1136/Bjophthalmol-2011-301462  0.341
2012 Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, ... ... Milewicz DM, et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nature Genetics. 44: 916-21. PMID 22772371 DOI: 10.1038/Ng.2348  0.598
2012 Kuang SQ, Kwartler CS, Byanova KL, Pham J, Gong L, Prakash SK, Huang J, Kamm KE, Stull JT, Sweeney HL, Milewicz DM. Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells. Circulation Research. 110: 1411-22. PMID 22511748 DOI: 10.1161/Circresaha.111.261743  0.51
2012 Richer J, Milewicz DM, Gow R, de Nanassy J, Maharajh G, Miller E, Oppenheimer L, Weiler G, O'Connor M. R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. American Journal of Medical Genetics. Part A. 664-8. PMID 22302747 DOI: 10.1002/Ajmg.A.35206  0.444
2012 Milewicz DM. MicroRNAs, fibrotic remodeling, and aortic aneurysms. The Journal of Clinical Investigation. 122: 490-3. PMID 22269322 DOI: 10.1172/Jci62204  0.48
2012 Song HK, Kindem M, Bavaria JE, Dietz HC, Milewicz DM, Devereux RB, Eagle KA, Maslen CL, Kroner BL, Pyeritz RE, Holmes KW, Weinsaft JW, Menashe V, Ravekes W, LeMaire SA, et al. Long-term implications of emergency versus elective proximal aortic surgery in patients with Marfan syndrome in the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions Consortium Registry. The Journal of Thoracic and Cardiovascular Surgery. 143: 282-6. PMID 22104675 DOI: 10.1016/J.Jtcvs.2011.10.024  0.515
2012 Albini P, Wu D, Segura A, Liu G, Song J, Zhang L, Coselli J, Milewicz D, Shen Y, LeMaire S. Atherosclerosis in Sporadic Ascending Aortic Aneurysms Journal of Surgical Research. 172: 201. DOI: 10.1016/J.Jss.2011.11.258  0.53
2012 Milewicz DM, Kwartler CS. Genetic Variants in Smooth Muscle Contraction and Adhesion Genes Cause Thoracic Aortic Aneurysms and Dissections and Other Vascular Diseases Musclefundamental Biology and Mechanisms of Disease. 1291-1300. DOI: 10.1016/B978-0-12-381510-1.00097-1  0.521
2011 Milewicz DM. Stopping a killer: improving the diagnosis, treatment, and prevention of acute ascending aortic dissections. Circulation. 124: 1902-4. PMID 22042924 DOI: 10.1161/Circulationaha.111.059337  0.526
2011 Kroner BL, Tolunay HE, Basson CT, Pyeritz RE, Holmes KW, Maslen CL, Milewicz DM, LeMaire SA, Hendershot T, Desvigne-Nickens P, Devereux RB, Dietz HC, Song HK, Ringer D, Mitchell M, et al. The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. American Heart Journal. 162: 627-632.e1. PMID 21982653 DOI: 10.1016/J.Ahj.2011.07.002  0.443
2011 Lemaire SA, McDonald ML, Guo DC, Russell L, Miller CC, Johnson RJ, Bekheirnia MR, Franco LM, Nguyen M, Pyeritz RE, Bavaria JE, Devereux R, Maslen C, Holmes KW, Eagle K, ... ... Milewicz DM, et al. Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nature Genetics. 43: 996-1000. PMID 21909107 DOI: 10.1038/Ng.934  0.503
2011 Prakash SK, Haden-Pinneri K, Milewicz DM. Susceptibility to acute thoracic aortic dissections in patients dying outside the hospital: an autopsy study. American Heart Journal. 162: 474-9. PMID 21884863 DOI: 10.1016/J.Ahj.2011.06.020  0.439
2011 Regalado E, Medrek S, Tran-Fadulu V, Guo DC, Pannu H, Golabbakhsh H, Smart S, Chen JH, Shete S, Kim DH, Stern R, Braverman AC, Milewicz DM. Autosomal dominant inheritance of a predisposition to thoracic aortic aneurysms and dissections and intracranial saccular aneurysms. American Journal of Medical Genetics. Part A. 155: 2125-30. PMID 21815248 DOI: 10.1002/Ajmg.A.34050  0.566
2011 Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA, Milewicz DM. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms Circulation Research. 109: 680-686. PMID 21778426 DOI: 10.1161/Circresaha.111.248161  0.595
2011 Mendoza DD, Kochar M, Devereux RB, Basson CT, Min JK, Holmes K, Dietz HC, Milewicz DM, LeMaire SA, Pyeritz RE, Bavaria JE, Maslen CL, Song H, Kroner BL, Eagle KA, et al. Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. The Annals of Thoracic Surgery. 92: 904-12. PMID 21723533 DOI: 10.1016/J.Athoracsur.2011.03.130  0.456
2011 Kuang SQ, Guo DC, Prakash SK, McDonald ML, Johnson RJ, Wang M, Regalado ES, Russell L, Cao JM, Kwartler C, Fraivillig K, Coselli JS, Safi HJ, Estrera AL, Leal SM, ... ... Milewicz DM, et al. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. Plos Genetics. 7: e1002118. PMID 21698135 DOI: 10.1371/Journal.Pgen.1002118  0.401
2011 Tomson SN, Avidan N, Lee K, Sarma AK, Tushe R, Milewicz DM, Bray M, Leal SM, Eagleman DM. The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition. Behavioural Brain Research. 223: 48-52. PMID 21504763 DOI: 10.1016/J.Bbr.2011.03.071  0.308
2011 Guo DC, Regalado ES, Minn C, Tran-Fadulu V, Coney J, Cao J, Wang M, Yu RK, Estrera AL, Safi HJ, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: identification of a novel locus for stable aneurysms with a low risk for progression to aortic dissection. Circulation. Cardiovascular Genetics. 4: 36-42. PMID 21163914 DOI: 10.1161/Circgenetics.110.958066  0.573
2011 Wang L, Guo D, Cao J, Gong L, Kamm K, Regalado E, Li L, Shete S, He W, Zhu M, Offermanns S, Gilchrist D, Elefteriades J, Stull J, Milewicz D. Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections The American Journal of Human Genetics. 88: 516. DOI: 10.1016/J.Ajhg.2011.03.007  0.475
2010 Prakash SK, LeMaire SA, Guo DC, Russell L, Regalado ES, Golabbakhsh H, Johnson RJ, Safi HJ, Estrera AL, Coselli JS, Bray MS, Leal SM, Milewicz DM, Belmont JW. Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. American Journal of Human Genetics. 87: 743-56. PMID 21092924 DOI: 10.1016/J.Ajhg.2010.09.015  0.485
2010 Milewicz DM, Regalado ES, Guo DC. Treatment guidelines for thoracic aortic aneurysms and dissections based on the underlying causative gene. The Journal of Thoracic and Cardiovascular Surgery. 140: S2-4; discussion S45. PMID 21092790 DOI: 10.1016/J.Jtcvs.2010.07.027  0.534
2010 Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM. Mutations in myosin light chain kinase cause familial aortic dissections. American Journal of Human Genetics. 87: 701-7. PMID 21055718 DOI: 10.1016/J.Ajhg.2010.10.006  0.523
2010 Reid AJ, Bhattacharjee MB, Regalado ES, Milewicz AL, El-Hakam LM, Dauser RC, Milewicz DM. Diffuse and uncontrolled vascular smooth muscle cell proliferation in rapidly progressing pediatric moyamoya disease. Journal of Neurosurgery. Pediatrics. 6: 244-9. PMID 20809708 DOI: 10.3171/2010.5.Peds09505  0.35
2010 Milewicz DM, Østergaard JR, Ala-Kokko LM, Khan N, Grange DK, Mendoza-Londono R, Bradley TJ, Olney AH, Adès L, Maher JF, Guo D, Buja LM, Kim D, Hyland JC, Regalado ES. De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. American Journal of Medical Genetics. Part A. 152: 2437-43. PMID 20734336 DOI: 10.1002/Ajmg.A.33657  0.43
2010 Prakash S, LeMaire SA, Bray M, Milewicz DM, Belmont JW. Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. American Journal of Medical Genetics. Part A. 152: 2399-405. PMID 20683997 DOI: 10.1002/Ajmg.A.33571  0.447
2010 Inamoto S, Kwartler CS, Lafont AL, Liang YY, Fadulu VT, Duraisamy S, Willing M, Estrera A, Safi H, Hannibal MC, Carey J, Wiktorowicz J, Tan FK, Feng XH, Pannu H, ... Milewicz DM, et al. TGFBR2 mutations alter smooth muscle cell phenotype and predispose to thoracic aortic aneurysms and dissections. Cardiovascular Research. 88: 520-9. PMID 20628007 DOI: 10.1093/Cvr/Cvq230  0.803
2010 Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM. The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics. 47: 476-85. PMID 20591885 DOI: 10.1136/Jmg.2009.072785  0.369
2010 Milewicz DM, Carlson AA, Regalado ES. Genetic testing in aortic aneurysm disease: PRO. Cardiology Clinics. 28: 191-7. PMID 20452526 DOI: 10.1016/J.Ccl.2010.01.017  0.546
2010 Cao J, Gong L, Guo DC, Mietzsch U, Kuang SQ, Kwartler CS, Safi H, Estrera A, Gambello MJ, Milewicz DM. Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice. Human Molecular Genetics. 19: 1908-20. PMID 20159776 DOI: 10.1093/Hmg/Ddq066  0.473
2010 Milewicz DM, Kwartler CS, Papke CL, Regalado ES, Cao J, Reid AJ. Genetic variants promoting smooth muscle cell proliferation can result in diffuse and diverse vascular diseases: evidence for a hyperplastic vasculomyopathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 12: 196-203. PMID 20130469 DOI: 10.1097/Gim.0B013E3181Cdd687  0.397
2010 LeMaire SA, Lu X, Hou X, Russell L, Milewicz DM, Belmont JW, Adams GJ, Shen YH, Coselli JS. Matrix Metalloproteinase Levels Are Elevated in Patients with Marfan Syndrome and Chronic Descending Thoracic Aortic Dissection Journal of Surgical Research. 158: 171. PMID 20105706 DOI: 10.1016/J.Jss.2009.11.014  0.427
2010 Brautbar A, LeMaire SA, Franco LM, Coselli JS, Milewicz DM, Belmont JW. FBN1 mutations in patients with descending thoracic aortic dissections. American Journal of Medical Genetics. Part A. 152: 413-6. PMID 20082464 DOI: 10.1002/Ajmg.A.32856  0.608
2010 Villamizar C, Regalado ES, Fadulu VT, Hasham SN, Gupta P, Willing MC, Kuang SQ, Guo D, Muilenburg A, Yee RW, Fan Y, Towbin J, Coselli JS, LeMaire SA, Milewicz DM. Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. European Journal of Medical Genetics. 53: 80-4. PMID 19941982 DOI: 10.1016/J.Ejmg.2009.11.001  0.805
2010 Weinsaft JW, Daoko J, Fong JC, Sethi S, Mendoza DD, Devereux RB, Basson CT, Holmes K, Tung PP, Milewicz DM, Pyeritz R, Maslen C, Kroner B, Brambilla D, Tolunay H, et al. IMPACT OF IMAGING METHODOLOGY ON MEASUREMENTS OF AORTIC SIZE IN PATIENTS WITH THORACIC AORTIC ANEURYSMS - RESULTS FROM THE GENTAC IMAGING DATABASE Journal of the American College of Cardiology. 55: A162.E1517. DOI: 10.1016/S0735-1097(10)61518-5  0.432
2010 Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE, Eagle KA, Hermann LK, Isselbacher EM, Kazerooni EA, Kouchoukos NT, Lytle BW, Milewicz DM, Reich DL, Sen S, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease: Executive Summary Journal of the American College of Cardiology. 55: 1509-1544. DOI: 10.1016/J.Jacc.2010.02.010  0.305
2009 Tieu BC, Lee C, Sun H, Lejeune W, Recinos A, Ju X, Spratt H, Guo DC, Milewicz D, Tilton RG, Brasier AR. An adventitial IL-6/MCP1 amplification loop accelerates macrophage-mediated vascular inflammation leading to aortic dissection in mice. The Journal of Clinical Investigation. 119: 3637-51. PMID 19920349 DOI: 10.1172/Jci38308  0.382
2009 Song HK, Bavaria JE, Kindem MW, Holmes KW, Milewicz DM, Maslen CL, Pyeritz RE, Basson CT, Eagle K, Tolunay HE, Kroner BL, Dietz H, Menashe V, Devereux RB, Desvigne-Nickens P, et al. Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions. The Annals of Thoracic Surgery. 88: 781-7; discussion 78. PMID 19699898 DOI: 10.1016/J.Athoracsur.2009.04.034  0.477
2009 Tran-Fadulu V, Pannu H, Kim DH, Vick GW, Lonsford CM, Lafont AL, Boccalandro C, Smart S, Peterson KL, Hain JZ, Willing MC, Coselli JS, LeMaire SA, Ahn C, Byers PH, ... Milewicz DM, et al. Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. Journal of Medical Genetics. 46: 607-13. PMID 19542084 DOI: 10.1136/Jmg.2008.062844  0.835
2009 Guo DC, Papke CL, Tran-Fadulu V, Regalado ES, Avidan N, Johnson RJ, Kim DH, Pannu H, Willing MC, Sparks E, Pyeritz RE, Singh MN, Dalman RL, Grotta JC, Marian AJ, ... ... Milewicz DM, et al. Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. American Journal of Human Genetics. 84: 617-27. PMID 19409525 DOI: 10.1016/J.Ajhg.2009.04.007  0.477
2009 Volguina IV, Miller DC, LeMaire SA, Palmero LC, Wang XL, Connolly HM, Sundt TM, Bavaria JE, Dietz HC, Milewicz DM, Coselli JS. Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: Analysis of early outcome. The Journal of Thoracic and Cardiovascular Surgery. 137: 1124-32. PMID 19379977 DOI: 10.1016/J.Jtcvs.2009.03.023  0.439
2009 Santiago-Sim T, Mathew-Joseph S, Pannu H, Milewicz DM, Seidman CE, Seidman JG, Kim DH. Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. Stroke; a Journal of Cerebral Circulation. 40: 1604-11. PMID 19299629 DOI: 10.1161/Strokeaha.108.540245  0.528
2009 Volguina IV, Miller DC, Lemaire SA, Palmero LC, Wang XL, Connolly HM, Sundt TM, Bavaria JE, Dietz HC, Milewicz DM, Coselli JS. Valve-sparing and valve-replacing techniques for aortic root replacement in patients with Marfan syndrome: analysis of early outcome. The Journal of Thoracic and Cardiovascular Surgery. 137: 641-9. PMID 19258081 DOI: 10.1016/j.jtcvs.2008.11.030  0.339
2009 Frédéric MY, Monino C, Marschall C, Hamroun D, Faivre L, Jondeau G, Klein HG, Neumann L, Gautier E, Binquet C, Maslen C, Godfrey M, Gupta P, Milewicz D, Boileau C, et al. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Human Mutation. 30: 181-90. PMID 18767143 DOI: 10.1002/Humu.20794  0.404
2008 He R, Guo DC, Sun W, Papke CL, Duraisamy S, Estrera AL, Safi HJ, Ahn C, Buja LM, Arnett FC, Zhang J, Geng YJ, Milewicz DM. Characterization of the inflammatory cells in ascending thoracic aortic aneurysms in patients with Marfan syndrome, familial thoracic aortic aneurysms, and sporadic aneurysms. The Journal of Thoracic and Cardiovascular Surgery. 136: 922-9, 929.e1. PMID 18954631 DOI: 10.1016/J.Jtcvs.2007.12.063  0.566
2008 Guo DC, Gupta P, Tran-Fadulu V, Guidry TV, Leduc MS, Schaefer FV, Milewicz DM. An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease. Journal of Human Genetics. 53: 1007-11. PMID 18795226 DOI: 10.1007/S10038-008-0334-7  0.389
2008 Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels A, Van Eyk J, Dietz HC. Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation. 118: 785-91. PMID 18695204 DOI: 10.1161/Circulationaha.108.783753  0.567
2008 Milewicz DM, Guo DC, Tran-Fadulu V, Lafont AL, Papke CL, Inamoto S, Kwartler CS, Pannu H. Genetic basis of thoracic aortic aneurysms and dissections: focus on smooth muscle cell contractile dysfunction. Annual Review of Genomics and Human Genetics. 9: 283-302. PMID 18544034 DOI: 10.1146/Annurev.Genom.8.080706.092303  0.834
2008 Pannu H, Tran-Fadulu V, Papke CL, Scherer S, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, Wesley GV, Marian AJ, Raman CS, Maximilian LB, Milewicz DM. Erratum: MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor1 and angiotensin II (Human Molecular Genetics (2007) vol. 16 (20) (2453-2462) 10.1093/hmg/ddm201) Human Molecular Genetics. 17. DOI: 10.1093/Hmg/Ddm313  0.35
2008 Guo D, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, ... ... Milewicz DM, et al. Erratum: Corrigendum: Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections Nature Genetics. 40: 255-255. DOI: 10.1038/Ng0208-255C  0.51
2008 Yoon JS, Zhang L, Shen YH, Criddell M, LeMaire SA, Milewicz DM, Coselli JS, Wang XL. QS239. Adventitial Fibroblasts in Thoracic Aortic Aneurysm and Dissection (TAAD) Journal of Surgical Research. 144: 362. DOI: 10.1016/J.Jss.2007.12.486  0.527
2007 Guo DC, Pannu H, Tran-Fadulu V, Papke CL, Yu RK, Avidan N, Bourgeois S, Estrera AL, Safi HJ, Sparks E, Amor D, Ades L, McConnell V, Willoughby CE, Abuelo D, ... ... Milewicz DM, et al. Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nature Genetics. 39: 1488-93. PMID 17994018 DOI: 10.1038/Ng.2007.6  0.521
2007 Yao Z, Jaeger JC, Ruzzo WL, Morale CZ, Emond M, Francke U, Milewicz DM, Schwartz SM, Mulvihill ER. A Marfan syndrome gene expression phenotype in cultured skin fibroblasts. Bmc Genomics. 8: 319. PMID 17850668 DOI: 10.1186/1471-2164-8-319  0.555
2007 Pannu H, Tran-Fadulu V, Papke CL, Scherer S, Liu Y, Presley C, Guo D, Estrera AL, Safi HJ, Brasier AR, Vick GW, Marian AJ, Raman CS, Buja LM, Milewicz DM. MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II. Human Molecular Genetics. 16: 2453-62. PMID 17666408 DOI: 10.1093/Hmg/Ddm201  0.556
2007 LeMaire SA, Pannu H, Tran-Fadulu V, Carter SA, Coselli JS, Milewicz DM. Severe aortic and arterial aneurysms associated with a TGFBR2 mutation Nature Clinical Practice Cardiovascular Medicine. 4: 167-171. PMID 17330129 DOI: 10.1038/ncpcardio0797  0.455
2006 Guo DC, Papke CL, He R, Milewicz DM. Pathogenesis of thoracic and abdominal aortic aneurysms. Annals of the New York Academy of Sciences. 1085: 339-52. PMID 17182954 DOI: 10.1196/Annals.1383.013  0.538
2006 Pannu H, Avidan N, Tran-Fadulu V, Milewicz DM. Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms. Annals of the New York Academy of Sciences. 1085: 242-55. PMID 17182941 DOI: 10.1196/Annals.1383.024  0.588
2006 Pannu H, Kim DH, Guo D, King TM, Van Ginhoven G, Chin T, Chang K, Qi Y, Shete S, Milewicz DM. The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms. Journal of Neurosurgery. 105: 418-23. PMID 16961137 DOI: 10.3171/Jns.2006.105.3.418  0.317
2006 Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. The New England Journal of Medicine. 355: 788-98. PMID 16928994 DOI: 10.1056/Nejmoa055695  0.538
2006 LeMaire SA, Carter SA, Volguina IV, Laux AT, Milewicz DM, Borsato GW, Cheung CK, Bozinovski J, Markesino JM, Vaughn WK, Coselli JS. Spectrum of Aortic Operations in 300 Patients With Confirmed or Suspected Marfan Syndrome Annals of Thoracic Surgery. 81: 2063-2078. PMID 16731131 DOI: 10.1016/J.Athoracsur.2006.01.070  0.421
2006 Tran-Fadulu V, Chen JH, Lemuth D, Neichoy BT, Yuan J, Gomes N, Sparks E, Kramer LA, Guo D, Pannu H, Braverman AC, Shete S, Milewicz DM. Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women. American Journal of Medical Genetics. Part A. 140: 1196-202. PMID 16646045 DOI: 10.1002/Ajmg.A.31236  0.591
2006 Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, Dietz HC, Guo G, Handford PA, Judge DP, Kielty CM, Loeys B, Milewicz DM, Ney A, Ramirez F, et al. The molecular genetics of Marfan syndrome and related disorders. Journal of Medical Genetics. 43: 769-87. PMID 16571647 DOI: 10.1136/Jmg.2005.039669  0.423
2006 Snape KM, Fahey MC, McGillivray G, Gupta P, Milewicz DM, Delatycki MB. Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability. Clinical Dysmorphology. 15: 95-9. PMID 16531736 DOI: 10.1097/01.Mcd.0000203633.86190.2D  0.362
2006 He R, Guo DC, Estrera AL, Safi HJ, Huynh TT, Yin Z, Cao SN, Lin J, Kurian T, Buja LM, Geng YJ, Milewicz DM. Characterization of the inflammatory and apoptotic cells in the aortas of patients with ascending thoracic aortic aneurysms and dissections. The Journal of Thoracic and Cardiovascular Surgery. 131: 671-8. PMID 16515922 DOI: 10.1016/J.Jtcvs.2005.09.018  0.446
2006 Tran-Fadulu V, Chen JH, Lemuth D, Neichoy BT, Yuan J, Gomes N, Sparks E, Kramer LA, Guo D, Pannu H, Braverman AC, Shete S, Milewicz DM. Erratum: Familial thoracic aortic aneurysms and dissections: Three families with early-onset ascending and descending aortic dissections in women (American Journal of Medical Genetics DOI: 10.1002/ajmg.a.31236) American Journal of Medical Genetics Part A. 140: 1796-1796. DOI: 10.1002/Ajmg.A.31356  0.53
2005 Pannu H, Tran-Fadulu V, Milewicz DM. Genetic basis of thoracic aortic aneurysms and aortic dissections. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 139: 10-6. PMID 16273536 DOI: 10.1002/Ajmg.C.30069  0.586
2005 Pannu H, Kim DH, Seaman CR, Van Ginhoven G, Shete S, Milewicz DM. Lack of an association between the angiotensin-converting enzyme insertion/deletion polymorphism and intracranial aneurysms in a Caucasian population in the United States. Journal of Neurosurgery. 103: 92-6. PMID 16121979 DOI: 10.3171/Jns.2005.103.1.0092  0.372
2005 Pannu H, Fadulu VT, Chang J, Lafont A, Hasham SN, Sparks E, Giampietro PF, Zaleski C, Estrera AL, Safi HJ, Shete S, Willing MC, Raman CS, Milewicz DM. Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. Circulation. 112: 513-20. PMID 16027248 DOI: 10.1161/Circulationaha.105.537340  0.792
2005 Kim DH, Van Ginhoven G, Milewicz DM. Familial aggregation of both aortic and cerebral aneurysms: evidence for a common genetic basis in a subset of families. Neurosurgery. 56: 655-61; discussion 6. PMID 15792503 DOI: 10.1227/01.Neu.0000156787.55281.53  0.56
2005 Milewicz DM, Dietz HC, Miller DC. Treatment of aortic disease in patients with Marfan syndrome. Circulation. 111: e150-7. PMID 15781745 DOI: 10.1161/01.Cir.0000155243.70456.F4  0.554
2005 Zhou X, Tan FK, Guo X, Wallis D, Milewicz DM, Xue S, Arnett FC. Small interfering RNA inhibition of SPARC attenuates the profibrotic effect of transforming growth factor beta1 in cultured normal human fibroblasts. Arthritis and Rheumatism. 52: 257-61. PMID 15641096 DOI: 10.1002/Art.20785  0.3
2004 Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly Journal of Medical Genetics. 41. PMID 15121784 DOI: 10.1136/Jmg.2003.012880  0.512
2004 Boccalandro C, De Mattia F, Guo DC, Xue L, Orlander P, King TM, Gupta P, Deen PM, Lavis VR, Milewicz DM. Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin. Journal of the American Society of Nephrology : Jasn. 15: 1223-31. PMID 15100362 DOI: 10.1097/01.Asn.0000125248.85135.43  0.399
2004 Hasham SN, Lewin MR, Tran VT, Pannu H, Muilenburg A, Willing M, Milewicz DM. Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families. Annals of Emergency Medicine. 43: 79-82. PMID 14707946 DOI: 10.1016/S0196-0644(03)00818-7  0.843
2003 Kim DH, Van Ginhoven G, Milewicz DM. Incidence of familial intracranial aneurysms in 200 patients: comparison among Caucasian, African-American, and Hispanic populations. Neurosurgery. 53: 302-8. PMID 12925244 DOI: 10.1227/01.Neu.0000073418.34609.35  0.499
2003 Hasham SN, Willing MC, Guo DC, Muilenburg A, He R, Tran VT, Scherer SE, Shete SS, Milewicz DM. Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. Circulation. 107: 3184-90. PMID 12821554 DOI: 10.1161/01.Cir.0000078634.33124.95  0.822
2003 Frazier-Bowers SA, Pham KY, Le EV, Cavender AC, Kapadia H, King TM, Milewicz DM, D'Souza RN. A unique form of hypodontia seen in Vietnamese patients: clinical and molecular analysis. Journal of Medical Genetics. 40: e79. PMID 12807978 DOI: 10.1136/Jmg.40.6.E79  0.43
2002 Hasham SN, Guo DC, Milewicz DM. Genetic basis of thoracic aortic aneurysms and dissections. Current Opinion in Cardiology. 17: 677-83. PMID 12466712 DOI: 10.1097/00001573-200211000-00015  0.84
2002 Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Adès LC, Milewicz DM. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Human Mutation. 19: 39-48. PMID 11754102 DOI: 10.1002/Humu.10017  0.427
2002 Frazier-Bowers S, Guo D, Cavender A, Xue L, Evans B, King T, Milewicz D, D'Souza R. A Novel Mutation in HumanPAX9Causes Molar Oligodontia Journal of Dental Research. 81: 129-133. DOI: 10.1177/0810129  0.355
2001 Guo D, Tan FK, Cantu A, Plon SE, Milewicz DM. FBN1 exon 2 splicing error in a patient with Marfan syndrome American Journal of Medical Genetics. 101: 130-134. PMID 11391655 DOI: 10.1002/1096-8628(20010615)101:2<130::Aid-Ajmg1333>3.0.Co;2-V  0.398
2001 Vaughan CJ, Casey M, He J, Veugelers M, Henderson K, Guo D, Campagna R, Roman MJ, Milewicz DM, Devereux RB, Basson CT. Identification of a chromosome 11q23.2-q24 locus for familial aortic aneurysm disease, a genetically heterogeneous disorder. Circulation. 103: 2469-75. PMID 11369687 DOI: 10.1161/01.Cir.103.20.2469  0.534
2001 Guo D, Hasham S, Kuang SQ, Vaughan CJ, Boerwinkle E, Chen H, Abuelo D, Dietz HC, Basson CT, Shete SS, Milewicz DM. Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. Circulation. 103: 2461-8. PMID 11369686 DOI: 10.1161/01.Cir.103.20.2461  0.85
2001 Kuang SQ, Hasham S, Phillips MD, Wolf D, Wan Y, Thiagarajan P, Milewicz DM. Characterization of a novel autosomal dominant bleeding disorder in a large kindred from east Texas. Blood. 97: 1549-54. PMID 11238089 DOI: 10.1182/Blood.V97.6.1549  0.801
2001 Milewicz DM, Urbán Z, Boyd C. Genetic disorders of the elastic fiber system. Matrix Biology : Journal of the International Society For Matrix Biology. 19: 471-80. PMID 11068201 DOI: 10.1016/S0945-053X(00)00099-8  0.4
2000 Milewicz DM, Seidman CE. Genetics of cardiovascular disease. Circulation. 102: IV103-11. PMID 11080139 DOI: 10.1161/01.Cir.102.Suppl_4.Iv-103  0.376
2000 Abuelo DN, Guo D, Cantu A, Carmical S, Milewicz D. Familial aortic aneurysms Genetics in Medicine. 2: 75-75. DOI: 10.1097/00125817-200001000-00083  0.625
1998 Tan FK, Stivers DN, Foster MW, Chakraborty R, Howard RF, Milewicz DM, Arnett FC. Association of microsatellite markers near the fibrillin 1 gene on human chromosome 15q with scleroderma in a native American population Arthritis and Rheumatism. 41: 1729-1737. PMID 9778214 DOI: 10.1002/1529-0131(199810)41:10<1729::Aid-Art5>3.0.Co;2-8  0.326
1998 Milewicz DM, Chen H, Park ES, Petty EM, Zaghi H, Shashidhar G, Willing M, Patel V. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. The American Journal of Cardiology. 82: 474-9. PMID 9723636 DOI: 10.1016/S0002-9149(98)00364-6  0.609
1998 Park ES, Putnam EA, Chitayat D, Child A, Milewicz DM. Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. American Journal of Medical Genetics. 78: 350-5. PMID 9714438 DOI: 10.1002/(Sici)1096-8628(19980724)78:4<350::Aid-Ajmg9>3.0.Co;2-P  0.39
1998 Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL, Judisch GF, Hanson JW. Shprintzen-Goldberg syndrome: a clinical analysis. American Journal of Medical Genetics. 76: 202-12. PMID 9508238 DOI: 10.1002/(Sici)1096-8628(19980319)76:3<202::Aid-Ajmg2>3.0.Co;2-S  0.32
1998 Prahlow JA, Barnard JJ, Milewicz DM. Familial Thoracic Aortic Aneurysms and Dissections Journal of Forensic Sciences. 43: 14395J. DOI: 10.1520/Jfs14395J  0.583
1997 Leung KL, Milewicz DM, Phillips MD, Barasch E. Nonbacterial thrombotic endocarditis in three members of a family. The New England Journal of Medicine. 336: 1677-8. PMID 9173278 DOI: 10.1056/Nejm199706053362314  0.312
1997 Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial thoracic aortic dilatations and dissections: a case control study. Journal of Vascular Surgery. 25: 506-11. PMID 9081132 DOI: 10.1016/S0741-5214(97)70261-1  0.569
1997 Collod-Béroud G, Béroud C, Adès L, Black C, Boxer M, Brock DJ, Godfrey M, Hayward C, Karttunen L, Milewicz D, Peltonen L, Richards RI, Wang M, Junien C, Boileau C. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Research. 25: 147-50. PMID 9016526 DOI: 10.1093/Nar/25.1.147  0.391
1996 Adès LC, Knight WB, Byard RW, Bateman JF, Esquivel JA, Mee RB, Haan EA, Milewicz DM. Clinicopathologic findings in congenital aneurysms of the great vessels. American Journal of Medical Genetics. 66: 289-99. PMID 8985490 DOI: 10.1002/(Sici)1096-8628(19961218)66:3<289::Aid-Ajmg11>3.0.Co;2-I  0.426
1996 Milewicz DM, Michael K, Fisher N, Coselli JS, Markello T, Biddinger A. Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. Circulation. 94: 2708-11. PMID 8941093 DOI: 10.1161/01.Cir.94.11.2708  0.579
1996 Putnam EA, Cho M, Zinn AB, Towbin JA, Byers PH, Milewicz DM. Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. American Journal of Medical Genetics. 62: 233-42. PMID 8882780 DOI: 10.1002/(Sici)1096-8628(19960329)62:3<233::Aid-Ajmg7>3.0.Co;2-U  0.422
1996 Putnam EA, Zhang H, Ramirez F, Milewicz DM. Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nature Genetics. 11: 456-8. PMID 7493032 DOI: 10.1038/Ng1295-456  0.316
1995 Milewicz DM. Ultrasonic characterization of the aortic architecture in Marfan patients. Circulation. 91: 1272-4. PMID 7850971 DOI: 10.1161/01.Cir.91.4.1272  0.335
1995 Finkbohner R, Johnston D, Crawford ES, Coselli J, Milewicz DM. Marfan syndrome. Long-term survival and complications after aortic aneurysm repair. Circulation. 91: 728-33. PMID 7828300 DOI: 10.1161/01.Cir.91.3.728  0.504
1995 Milewicz DM, Grossfield J, Cao SN, Kielty C, Covitz W, Jewett T. A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. The Journal of Clinical Investigation. 95: 2373-8. PMID 7738200 DOI: 10.1172/Jci117930  0.415
1995 Adès LC, Morris LL, Power RG, Wilson M, Haan EA, Bateman JF, Milewicz DM, Sillence DO. Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome. American Journal of Medical Genetics. 57: 565-72. PMID 7573130 DOI: 10.1002/Ajmg.1320570410  0.31
1994 Cohen PR, Milewicz DM. Dolichonychia in a patient with the Marfan syndrome. The Journal of Dermatology. 20: 779-82. PMID 8120241 DOI: 10.1111/J.1346-8138.1993.Tb01383.X  0.301
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