日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

家族性高胆固醇血症基因 LDLR 编码变异的功能图谱。

Tabet Daniel R, Coté Atina G, Lancaster Megan C, Weile Jochen, Rayhan Ashyad, Fotiadou Iosifina, Kishore Nishka, Li Roujia, Kuang Da, Knapp Jennifer J, Carrero Carmela S, Taverniti Olivia, Axakova Anna, Castelli Jack M P, Islam Mohammad M, Sowlati-Hashjin Shahin, Gandhi Aanshi, Maaieh Ranim, Garton Michael, Matreyek Kenneth, Fowler Douglas M, Bourbon Mafalda, Pfisterer Simon G, Glazer Andrew M, Kroncke Brett M, Parikh Victoria N, Ashley Euan A, Knowles Joshua W, Claussnitzer Melina, Cirulli Elizabeth T, Hegele Robert A, Roden Dan M, MacRae Calum A, Roth Frederick P

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

建立变异效应图谱,以解决意义未明的变异,并指导心血管医学研究。

Glazer, Andrew M; Tabet, Daniel R; Parikh, Victoria N; Kroncke, Brett M; Cote, Atina G; Yamamoto, Yuta; Wang, Qianru; Muhammad, Ayesha; Lancaster, Megan C; O'Neill, Matthew J; Weile, Jochen; Yang, Tao; Macrae, Calum A; Ashley, Euan A; Roth, Frederick P; Roden, Dan M

RBM20 Truncating Variants and Human Cardiomyopathy

RBM20截断变异体与人类心肌病

Floyd, Brendan J; Njoroge, Joyce N; Krysov, Vikki A; Gomes, Bruna; Murtha, Ryan; Aribeana, Chiaka; Cannie, Douglas; Smith, Eric; Paldino, Alessia; Brown, Emily E; Barth, Andreas; Ilhan, Erkan; Johnson, Renee; Wojciak, Julianne; Alkhayat, Mohamad; Graw, Sharon; Medo, Kristen; Haas, Jan; Chahal, C Anwar A; Fenzl, Kai; Steinmetz, Lars; Gollob, Michael; Ashley, Euan; Day, Sharlene; Judge, Daniel; Roberts, Jason D; Vedantham, Vasanth; Mao, Chad Y; Fatkin, Diane; Lakdawala, Neal K; Taylor, Matthew R G; Mestroni, Luisa; Saguner, Ardan M; Tayal, Upasana; Cadrin-Tourigny, Julia; Krahn, Andrew D; James, Cynthia; Dal Ferro, Matteo; Sinagra, Gianfranco; Merlo, Marco; Owens, Anjali; Reza, Nosheen; Saberi, Sara; Helms, Adam; Elliott, Perry; Meder, Benjamin; Lancaster, Megan; Parikh, Victoria N

Social Determinants of Health and Clinical Outcomes in Hypertrophic Cardiomyopathy

肥厚型心肌病患者的健康社会决定因素和临床结局

Hafeez, Neha; Claggett, Brian L; Owens, Anjali T; Helms, Adam S; Saberi, Sara; Lampert, Rachel; Stendahl, John C; Ashley, Euan A; Parikh, Victoria N; Lakdawala, Neal K; Ingles, Jodie; Olivotto, Iacopo; Ho, Carolyn Y; Taylor, Matthew R; Khan, Sadiya S; Day, Sharlene M

Truncating Variants in TTN are Associated With Primary Atrial Myopathy

TTN 截断变异与原发性心房肌病相关

de Castro, Daniel; Fatkin, Diane; Rodriguez-Rubio, Enrique; Haddad, Francois; Hernández-Terciado, Fernando; Purohit, Anisha; Bagherzadeh, Shadi P; Nair, Priyanka; Rad, Aria; Krysov, Vikki A; Parikh, Victoria N; García-Pavia, Pablo; Lakdawala, Neal K

Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy

低外显率肌节变异体增加肥厚型心肌病风险

Meisner, Joshua K; Renberg, Aaron; Smith, Eric D; Tsan, Yao-Chang; Elder, Brynn; Bullard, Abbey; Merritt, Owen L; Zheng, Sean L; Lakdawala, Neal K; Owens, Anjali T; Ryan, Thomas D; Miller, Erin M; Rossano, Joseph W; Lin, Kimberly Y; Claggett, Brian L; Ashley, Euan A; Michels, Michelle; Lampert, Rachel; Stendahl, John C; Abrams, Dominic; Semsarian, Christopher; Parikh, Victoria N; Wheeler, Matthew T; Ingles, Jodie; Olivotto, Iacopo; Day, Sharlene M; Saberi, Sara; Russell, Mark W; Previs, Michael; Ho, Carolyn Y; Ware, James S; Helms, Adam S

Clinical features and outcomes in carriers of pathogenic desmoplakin variants

致病性桥粒蛋白变异携带者的临床特征和预后

Gasperetti, Alessio; Carrick, Richard T; Protonotarios, Alexandros; Murray, Brittney; Laredo, Mikael; van der Schaaf, Iris; Lekanne, Ronald H; Syrris, Petros; Cannie, Douglas; Tichnell, Crystal; Cappelletto, Chiara; Gigli, Marta; Medo, Kristen; Saguner, Ardan M; Duru, Firat; Gilotra, Nisha A; Zimmerman, Stefan; Hylind, Robyn; Abrams, Dominic J; Lakdawala, Neal K; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Casella, Michela; Tondo, Claudio; Yazdani, Momina; Ware, James S; Prasad, Sanjay K; Calò, Leonardo; Smith, Eric D; Helms, Adam S; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Peretto, Giovanni; Peters, Stacey; Horton, Ari; Yao, Jess; Dittmann, Sven; Schulze-Bahr, Eric; Qureshi, Maria; Young, Katelyn; Carruth, Eric D; Haggerty, Chris; Parikh, Victoria N; Taylor, Matthew; Mestroni, Luisa; Wilde, Arthur; Sinagra, Gianfranco; Merlo, Marco; Gandjbakhch, Estelle; van Tintelen, J Peter; Te Riele, Anneline S J M; Elliott, Perry M; Calkins, Hugh; James, Cynthia A

Epistasis regulates genetic control of cardiac hypertrophy

上位性调节心脏肥大的遗传控制

Wang, Qianru; Tang, Tiffany M; Youlton, Michelle; Weldy, Chad S; Kenney, Ana M; Ronen, Omer; Hughes, J Weston; Chin, Elizabeth T; Sutton, Shirley C; Agarwal, Abhineet; Li, Xiao; Behr, Merle; Kumbier, Karl; Moravec, Christine S; Tang, W H Wilson; Margulies, Kenneth B; Cappola, Thomas P; Butte, Atul J; Arnaout, Rima; Brown, James B; Priest, James R; Parikh, Victoria N; Yu, Bin; Ashley, Euan A

The contribution of RBM20 truncating variants to human cardiomyopathy

RBM20截断变异对人类心肌病的影响

Floyd, Brendan J; Njoroge, Joyce N; Krysov, Vikki A; Gomes, Bruna; Murtha, Ryan; Aribeana, Chiaka; Cannie, Douglas; Smith, Eric; Paldino, Alessia; Brown, Emily E; Barth, Andreas; Ilhan, Erkan; Johnson, Renee; Wojciak, Julianne; Alkhayat, Mohamad; Graw, Sharon; Medo, Kristen; Haas, Jan; Chahal, C Anwar A; Fenzl, Kai; Steinmetz, Lars; Gollob, Michael; Ashley, Euan; Day, Sharlene; Judge, Daniel; Roberts, Jason; Vedantham, Vasanth; Mao, Chad Y; Fatkin, Diane; Lakdawala, Neal K; Taylor, Matthew R G; Mestroni, Luisa; Saguner, Ardan M; Tayal, Upasana; Cadrin-Tourigny, Julia; Krahn, Andrew D; James, Cynthia; Dal Ferro, Matteo; Sinagra, Gianfranco; Merlo, Marco; Owens, Anjali; Reza, Nosheen; Saberi, Sara; Helms, Adam; Elliott, Perry; Meder, Benjamin; Parikh, Victoria N

Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy

通过对变异效应进行多维分析,可以识别肥厚型心肌病中的序列-功能关系。

Yamamoto, Yuta; Chua, Kaiser; Ferrasse, Alexis; Kirilova, Anna; De Jong, Hannah N; Floyd, Brendan J; Cadisch, Christian; Wiel, Laurens; Wang, Qianru; O'Neill, Matthew J; Tabet, Daniel; Staudt, David; Goryznski, John E; Huang, Yong; Wilson, Rachel H; Sharma, Arman; Tapales, Althea; Agrawal, Rani; Wheeler, Matthew T; MacRae, Calum; Roden, Dan M; Roth, Frederick P; Glazer, Andrew M; Ashley, Euan A; Parikh, Victoria N