Pesquisa | BVS Educação Profissional em Saúde

1.

Molecular Choreography of Acute Exercise.

Contrepois, Kévin; Wu, Si; Moneghetti, Kegan J; Hornburg, Daniel; Ahadi, Sara; Tsai, Ming-Shian; Metwally, Ahmed A; Wei, Eric; Lee-McMullen, Brittany; Quijada, Jeniffer V; Chen, Songjie; Christle, Jeffrey W; Ellenberger, Mathew; Balliu, Brunilda; Taylor, Shalina; Durrant, Matthew G; Knowles, David A; Choudhry, Hani; Ashland, Melanie; Bahmani, Amir; Enslen, Brooke; Amsallem, Myriam; Kobayashi, Yukari; Avina, Monika; Perelman, Dalia; Schüssler-Fiorenza Rose, Sophia Miryam; Zhou, Wenyu; Ashley, Euan A; Montgomery, Stephen B; Chaib, Hassan; Haddad, Francois; Snyder, Michael P.

Cell ; 181(5): 1112-1130.e16, 2020 05 28.

Artigo em Inglês | MEDLINE | ID: mdl-32470399

2.

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa, Ryan S; Burren, Oliver S; Sun, Benjamin B; Prins, Bram P; Matelska, Dorota; Wheeler, Eleanor; Mitchell, Jonathan; Oerton, Erin; Hristova, Ventzislava A; Smith, Katherine R; Carss, Keren; Wasilewski, Sebastian; Harper, Andrew R; Paul, Dirk S; Fabre, Margarete A; Runz, Heiko; Viollet, Coralie; Challis, Benjamin; Platt, Adam; Vitsios, Dimitrios; Ashley, Euan A; Whelan, Christopher D; Pangalos, Menelas N; Wang, Quanli; Petrovski, Slavé.

Nature ; 622(7982): 339-347, 2023 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-37794183

3.

The genetics of human performance.

Kim, Daniel Seung; Wheeler, Matthew T; Ashley, Euan A.

Nat Rev Genet ; 23(1): 40-54, 2022 01.

Artigo em Inglês | MEDLINE | ID: mdl-34522035

4.

Personal omics profiling reveals dynamic molecular and medical phenotypes.

Chen, Rui; Mias, George I; Li-Pook-Than, Jennifer; Jiang, Lihua; Lam, Hugo Y K; Chen, Rong; Miriami, Elana; Karczewski, Konrad J; Hariharan, Manoj; Dewey, Frederick E; Cheng, Yong; Clark, Michael J; Im, Hogune; Habegger, Lukas; Balasubramanian, Suganthi; O'Huallachain, Maeve; Dudley, Joel T; Hillenmeyer, Sara; Haraksingh, Rajini; Sharon, Donald; Euskirchen, Ghia; Lacroute, Phil; Bettinger, Keith; Boyle, Alan P; Kasowski, Maya; Grubert, Fabian; Seki, Scott; Garcia, Marco; Whirl-Carrillo, Michelle; Gallardo, Mercedes; Blasco, Maria A; Greenberg, Peter L; Snyder, Phyllis; Klein, Teri E; Altman, Russ B; Butte, Atul J; Ashley, Euan A; Gerstein, Mark; Nadeau, Kari C; Tang, Hua; Snyder, Michael.

Cell ; 148(6): 1293-307, 2012 Mar 16.

Artigo em Inglês | MEDLINE | ID: mdl-22424236

5.

Video-based AI for beat-to-beat assessment of cardiac function.

Ouyang, David; He, Bryan; Ghorbani, Amirata; Yuan, Neal; Ebinger, Joseph; Langlotz, Curtis P; Heidenreich, Paul A; Harrington, Robert A; Liang, David H; Ashley, Euan A; Zou, James Y.

Nature ; 580(7802): 252-256, 2020 04.

Artigo em Inglês | MEDLINE | ID: mdl-32269341

6.

Improved Cardiac Performance and Decreased Arrhythmia in Hypertrophic Cardiomyopathy With Non-ß-Blocking R-Enantiomer Carvedilol.

Seo, Kinya; Yamamoto, Yuta; Kirillova, Anna; Kawana, Masataka; Yadav, Sunil; Huang, Yong; Wang, Qianru; Lane, Kerry V; Pruitt, Beth L; Perez, Marco V; Bernstein, Daniel; Wu, Joseph C; Wheeler, Matthew T; Parikh, Victoria N; Ashley, Euan A.

Circulation ; 148(21): 1691-1704, 2023 11 21.

Artigo em Inglês | MEDLINE | ID: mdl-37850394

7.

Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe Registry.

Abou Alaiwi, Sarah; Roston, Thomas M; Marstrand, Peter; Claggett, Brian Lee; Parikh, Victoria N; Helms, Adam S; Ingles, Jodie; Lampert, Rachel; Lakdawala, Neal K; Michels, Michelle; Owens, Anjali T; Rossano, Joseph W; Saberi, Sara; Abrams, Dominic J; Ashley, Euan A; Semsarian, Christopher; Stendahl, John C; Ware, James S; Miller, Erin; Ryan, Thomas D; Russell, Mark W; Day, Sharlene M; Olivotto, Iacopo; Vissing, Christoffer R; Ho, Carolyn Y.

Circulation ; 148(5): 394-404, 2023 08.

Artigo em Inglês | MEDLINE | ID: mdl-37226762

8.

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Kohler, Jennefer N; Legro, Nicole R; Baldridge, Dustin; Shin, Jimann; Bowman, Angela; Ugur, Berrak; Jackstadt, Madelyn M; Shriver, Leah P; Patti, Gary J; Zhang, Bo; Feng, Wenjia; McAdow, Anthony R; Goddard, Pagé; Ungar, Rachel A; Jensen, Tanner; Smith, Kevin S; Fresard, Laure; Alvarez, Raquel; Bonner, Devon; Reuter, Chloe M; McCormack, Colleen; Kravets, Elijah; Marwaha, Shruti; Holt, James M; Worthey, Elizabeth; Ashley, Euan A; Montgomery, Stephen B; Fisher, Paul; Postlethwait, John; De Camilli, Pietro; Solnica-Krezel, Lila; Bernstein, Jonathan A; Wheeler, Matthew T.

Genet Med ; : 101166, 2024 May 16.

Artigo em Inglês | MEDLINE | ID: mdl-38767059

9.

Polygenic risk scores for the prediction of cardiometabolic disease.

O'Sullivan, Jack W; Ashley, Euan A; Elliott, Perry M.

Eur Heart J ; 44(2): 89-99, 2023 01 07.

Artigo em Inglês | MEDLINE | ID: mdl-36478054

10.

Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.

Cannie, Douglas E; Syrris, Petros; Protonotarios, Alexandros; Bakalakos, Athanasios; Pruny, Jean-François; Ditaranto, Raffaello; Martinez-Veira, Cristina; Larrañaga-Moreira, Jose M; Medo, Kristen; Bermúdez-Jiménez, Francisco José; Ben Yaou, Rabah; Leturcq, France; Mezcua, Ainhoa Robles; Marini-Bettolo, Chiara; Cabrera, Eva; Reuter, Chloe; Limeres Freire, Javier; Rodríguez-Palomares, José F; Mestroni, Luisa; Taylor, Matthew R G; Parikh, Victoria N; Ashley, Euan A; Barriales-Villa, Roberto; Jiménez-Jáimez, Juan; Garcia-Pavia, Pablo; Charron, Philippe; Biagini, Elena; García Pinilla, José M; Bourke, John; Savvatis, Konstantinos; Wahbi, Karim; Elliott, Perry M.

Eur Heart J ; 44(48): 5064-5073, 2023 Dec 21.

Artigo em Inglês | MEDLINE | ID: mdl-37639473

11.

Two epilepsy-associated variants in KCNA2 (K_V 1.2) at position H310 oppositely affect channel functional expression.

Mínguez-Viñas, Teresa; Prakash, Varsha; Wang, Kaiqian; Lindström, Sarah H; Pozzi, Serena; Scott, Stuart A; Spiteri, Elizabeth; Stevenson, David A; Ashley, Euan A; Gunnarsson, Cecilia; Pantazis, Antonios.

J Physiol ; 601(23): 5367-5389, 2023 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-37883018

12.

Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association.

O'Sullivan, Jack W; Raghavan, Sridharan; Marquez-Luna, Carla; Luzum, Jasmine A; Damrauer, Scott M; Ashley, Euan A; O'Donnell, Christopher J; Willer, Cristen J; Natarajan, Pradeep.

Circulation ; 146(8): e93-e118, 2022 08 23.

Artigo em Inglês | MEDLINE | ID: mdl-35862132

13.

Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.

Halley, Meghan C; Young, Jennifer L; Tang, Charis; Mintz, Kevin T; Lucas-Griffin, Sawyer; Maghiro, AudreyStephannie; Ashley, Euan A; Tabor, Holly K.

J Pediatr ; 261: 113537, 2023 10.

Artigo em Inglês | MEDLINE | ID: mdl-37271495

14.

Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.

Gigli, Marta; Stolfo, Davide; Graw, Sharon L; Merlo, Marco; Gregorio, Caterina; Nee Chen, Suet; Dal Ferro, Matteo; PaldinoMD, Alessia; De Angelis, Giulia; Brun, Francesca; Jirikowic, Jean; Salcedo, Ernesto E; Turja, Sylvia; Fatkin, Diane; Johnson, Renee; van Tintelen, J Peter; Te Riele, Anneline S J M; Wilde, Arthur A M; Lakdawala, Neal K; Picard, Kermshlise; Miani, Daniela; Muser, Daniele; Maria Severini, Giovanni; Calkins, Hugh; James, Cynthia A; Murray, Brittney; Tichnell, Crystal; Parikh, Victoria N; Ashley, Euan A; Reuter, Chloe; Song, Jiangping; Judge, Daniel P; McKenna, William J; Taylor, Matthew R G; Sinagra, Gianfranco; Mestroni, Luisa.

Circulation ; 144(20): 1600-1611, 2021 11 16.

Artigo em Inglês | MEDLINE | ID: mdl-34587765

15.

Towards precision medicine.

Ashley, Euan A.

Nat Rev Genet ; 17(9): 507-22, 2016 08 16.

Artigo em Inglês | MEDLINE | ID: mdl-27528417

16.

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston, Nicholas A; Han, Larry; Olivotto, Iacopo; Day, Sharlene M; Ashley, Euan A; Michels, Michelle; Pereira, Alexandre C; Ingles, Jodie; Semsarian, Christopher; Jacoby, Daniel; Colan, Steven D; Rossano, Joseph W; Wittekind, Samuel G; Ware, James S; Saberi, Sara; Helms, Adam S; Ho, Carolyn Y.

Eur Heart J ; 42(20): 1988-1996, 2021 05 21.

Artigo em Inglês | MEDLINE | ID: mdl-33769460

17.

Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.

Nauffal, Victor; Marstrand, Peter; Han, Larry; Parikh, Victoria N; Helms, Adam S; Ingles, Jodie; Jacoby, Daniel; Lakdawala, Neal K; Kapur, Sunil; Michels, Michelle; Owens, Anjali T; Ashley, Euan A; Pereira, Alexandre C; Rossano, Joseph W; Saberi, Sara; Semsarian, Christopher; Ware, James S; Wittekind, Samuel G; Day, Sharlene; Olivotto, Iacopo; Ho, Carolyn Y.

Eur Heart J ; 42(38): 3932-3944, 2021 10 07.

Artigo em Inglês | MEDLINE | ID: mdl-34491319

18.

Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.

Chen, Yin-Huai; Zastrow, Diane B; Metcalfe, Riley D; Gartner, Lisa; Krause, Freia; Morton, Craig J; Marwaha, Shruti; Fresard, Laure; Huang, Yong; Zhao, Chunli; McCormack, Colleen; Bick, David; Worthey, Elizabeth A; Eng, Christine M; Gold, Jessica; Montgomery, Stephen B; Fisher, Paul G; Ashley, Euan A; Wheeler, Matthew T; Parker, Michael W; Shanmugasundaram, Veerabahu; Putoczki, Tracy L; Schmidt-Arras, Dirk; Laurence, Arian; Bernstein, Jonathan A; Griffin, Michael D W; Uhlig, Holm H.

J Allergy Clin Immunol ; 148(2): 585-598, 2021 08.

Artigo em Inglês | MEDLINE | ID: mdl-33771552

19.

Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.

Krishnan, Vandhana; Utiramerur, Sowmithri; Ng, Zena; Datta, Somalee; Snyder, Michael P; Ashley, Euan A.

BMC Bioinformatics ; 22(1): 85, 2021 Feb 24.

Artigo em Inglês | MEDLINE | ID: mdl-33627090

20.

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.

Marstrand, Peter; Han, Larry; Day, Sharlene M; Olivotto, Iacopo; Ashley, Euan A; Michels, Michelle; Pereira, Alexandre C; Wittekind, Samuel G; Helms, Adam; Saberi, Sara; Jacoby, Daniel; Ware, James S; Colan, Steven D; Semsarian, Christopher; Ingles, Jodie; Lakdawala, Neal K; Ho, Carolyn Y.

Circulation ; 141(17): 1371-1383, 2020 04 28.

Artigo em Inglês | MEDLINE | ID: mdl-32228044

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