Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections D Guo, E Regalado, DE Casteel, RL Santos-Cortez, L Gong, JJ Kim, ... The American Journal of Human Genetics 93 (2), 398-404, 2013 | 233 | 2013 |
RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease AC Cecchi, D Guo, Z Ren, K Flynn, RLP Santos-Cortez, SM Leal, ... Stroke 45 (11), 3200-3207, 2014 | 159 | 2014 |
Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes S Shalhub, JH Black III, AC Cecchi, Z Xu, BF Griswold, HJ Safi, ... Journal of vascular surgery 60 (1), 160-169, 2014 | 126 | 2014 |
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy A Pinard, S Guey, D Guo, AC Cecchi, N Kharas, S Wallace, ES Regalado, ... Genetics in Medicine 22 (2), 427-431, 2020 | 50 | 2020 |
Risk factors for thoracic aortic dissection Z Zhou, AC Cecchi, SK Prakash, DM Milewicz Genes 13 (10), 1814, 2022 | 48 | 2022 |
Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome A Cecchi, N Ogawa, HR Martinez, A Carlson, Y Fan, DJ Penny, D Guo, ... American Journal of Medical Genetics Part A 161 (9), 2305-2310, 2013 | 45 | 2013 |
Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care DM Milewicz, GUO Dongchuan, E Hostetler, I Marin, AC Pinard, ... The Journal of cardiovascular surgery 62 (3), 203, 2021 | 29 | 2021 |
Association of De Novo RNF213 Variants With Childhood Onset Moyamoya Disease and Diffuse Occlusive Vasculopathy A Pinard, MDJ Fiander, AC Cecchi, AL Rideout, M Azouz, SM Fraser, ... Neurology 96 (13), e1783-e1791, 2021 | 28 | 2021 |
Screening for Tay‐Sachs disease carriers by full‐exon sequencing with novel variant interpretation outperforms enzyme testing in a pan‐ethnic cohort AC Cecchi, ES Vengoechea, KE Kaseniit, MW Hardy, LA Kiger, N Mehta, ... Molecular genetics & genomic medicine 7 (8), e836, 2019 | 16 | 2019 |
Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease A Pinard, W Ye, SM Fraser, JA Rosenfeld, P Pichurin, SE Hickey, D Guo, ... Brain 146 (9), 3616-3623, 2023 | 12 | 2023 |
Aortic dissection in pregnancy and the postpartum period M Russo, M Boehler-Tatman, C Albright, C David, AW Roberts, S Shalhub, ... Seminars in Vascular Surgery 35 (1), 60-68, 2022 | 12 | 2022 |
Vascular Ehlers–Danlos Syndrome: Exploring the Role of Inflammation in Arterial Disease DM Milewicz, AJ Reid, AC Cecchi Circulation: Cardiovascular Genetics 7 (1), 5-7, 2014 | 12 | 2014 |
The mental health impact of aortic dissection N Ilonzo, E Taubenfeld, MD Yousif, C Henoud, J Howitt, M Wohlauer, ... Seminars in Vascular Surgery 35 (1), 88-99, 2022 | 10 | 2022 |
Current state and future directions of genomic medicine in aortic dissection: a path to prevention and personalized care AC Cecchi, M Drake, C Campos, J Howitt, J Medina, SM Damrauer, ... Seminars in vascular surgery 35 (1), 51-59, 2022 | 10 | 2022 |
Aortic root dilatation and dilated cardiomyopathy in an adult with Tatton‐Brown‐Rahman syndrome AC Cecchi, A Haidar, I Marin, CS Kwartler, SK Prakash, DM Milewicz American Journal of Medical Genetics Part A 188 (2), 628-634, 2022 | 10 | 2022 |
In-hospital outcomes and long-term survival of women of childbearing age with aortic dissection KL Rommens, HK Sandhu, CC Miller III, AC Cecchi, SK Prakash, ... Journal of Vascular Surgery 74 (4), 1135-1142. e1, 2021 | 10 | 2021 |
Implementation of telemedicine in the care of patients with aortic dissection T Nishath, K Wright, CR Burke, X Teng, N Cotter, AY Jeniann, LM Drudi, ... Seminars in Vascular Surgery 35 (1), 43-50, 2022 | 9 | 2022 |
The Aortic Dissection Collaborative: Methods for building capacity for patient-centered outcomes research in the aortic dissection community JR Lee, SO Lawrence, M Soto, M Case, N Cotter, J Howitt, T Soderlund, ... Seminars in Vascular Surgery 35 (1), 9-15, 2022 | 8 | 2022 |
An assessment of the current medical management of thoracic aortic disease: A patient-centered scoping literature review RCF Pena, MAH Bowman, M Ahmad, J Pham, E Kline-Rogers, MJ Case, ... Seminars in Vascular Surgery 35 (1), 16-34, 2022 | 8 | 2022 |
Lived experiences of people with or at risk for aortic dissection: a qualitative assessment JR Lee, C Segal, J Howitt, M Case, N Cotter, T Soderlund, D Trotter, ... Seminars in Vascular Surgery 35 (1), 78-87, 2022 | 7 | 2022 |