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

Serotonergic modulation of excitatory synapse development and plasticity

血清素能调节兴奋性突触的发育和可塑性

Chang, Victoria N; Ogelman, Roberto; Vargas, Raul Satoshi; Oh, Won Chan

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

Accumulation of ibuprofen in endemic amphipods of Lake Baikal

贝加尔湖特有端足类动物体内布洛芬的积累

Telnova, Tamara Yu; Morgunova, Maria M; Shashkina, Sophie S; Dmitrieva, Maria E; Shelkovnikova, Victoria N; Lipatova, Olga E; Malygina, Ekaterina V; Imidoeva, Natalia A; Belyshenko, Alexander Yu; Vavilina, Tatiana N; Matveev, Arcadii N; Misharina, Evgenia A; Axenov-Gribanov, Denis V

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

Regulation of MORC-1 is key to the CSR-1-mediated germline gene licensing mechanism in C. elegans.

MORC-1 的调控是秀丽隐杆线虫中 CSR-1 介导的种系基因许可机制的关键

Kirshner Jessica A, Picard Colette L, Weiser Natasha E, Mehta Nicita, Feng Suhua, Murphy Victoria N, Vakhnovetsky Anna, Alessi Amelia F, Xiao Connie, Inoki Kai, El Mouridi Sonia, Frøkjær-Jensen Christian, Jacobsen Steven E, Kim John K