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

Exploring the feasibility of using long-term stored newborn dried blood spots to identify metabolic features for congenital heart disease screening

探索利用长期保存的新生儿干血斑识别代谢特征以进行先天性心脏病筛查的可行性

Ceresnak, Scott R; Zhang, Yaqi; Ling, Xuefeng B; Su, Kuo Jung; Tang, Qiming; Jin, Bo; Schilling, James; Chou, C James; Han, Zhi; Floyd, Brendan J; Whitin, John C; Hwa, Kuo Yuan; Sylvester, Karl G; Chubb, Henry; Luo, Ruben Y; Tian, Lu; Cohen, Harvey J; McElhinney, Doff B

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

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

Cardiologists' Perceptions of Cardiogenetic Testing and Management

心脏病专家对心脏遗传检测和管理的看法

Tang, W H Wilson; Bui, Quan M; Cirino, Allison L; Dellefave-Castillo, Lisa; Floyd, Brendan J; Guerchicoff, Alejandra; Guerchicoff, Marianna; V Khera, Amit; Knowles, Joshua W; Lafayette, Kristen; P Landstrom, Andrew; Ma, Daria W; Morales, Ana; Orland, Kate M; Pineda-Alvarez, Daniel E; Prakash, Siddharth K; Theriot, Paul; Dempsey, Melissa

Multiparametric Assessment of TNNI3 Variant Phenotypes in Human iPSC-Cardiomyocytes Correlates with Disease Severity in Patients.

人类 iPSC-心肌细胞中 TNNI3 变异表型的多参数评估与患者疾病严重程度相关。

Staudt David W, Tran Peter Pq, Floyd Brendan J, Dunn Kyla, Han Dongju, Carhuamaca Xiomara, Serrano Ricardo, Hnatiuk Anna P, Bang Seyun, Parikh Victoria N, Ashley Euan A, Mercola Mark

Multisite Validation of a Functional Assay to Adjudicate SCN5A Brugada Syndrome-Associated Variants

多中心验证功能性检测方法以判定与SCN5A布鲁加达综合征相关的变异

Ma, Joanne G; O'Neill, Matthew J; Richardson, Ebony; Thomson, Kate L; Ingles, Jodie; Muhammad, Ayesha; Solus, Joseph F; Davogustto, Giovanni; Anderson, Katherine C; Shoemaker, M Benjamin; Stergachis, Andrew B; Floyd, Brendan J; Dunn, Kyla; Parikh, Victoria N; Chubb, Henry; Perrin, Mark J; Roden, Dan M; Vandenberg, Jamie I; Ng, Chai-Ann; Glazer, Andrew M

Correction: Exploring the feasibility of using long-term stored newborn dried blood spots to identify metabolic features for congenital heart disease screening

更正:探索利用长期储存的新生儿干血斑识别代谢特征以进行先天性心脏病筛查的可行性

Ceresnak, Scott R; Zhang, Yaqi; Ling, Xuefeng B; Su, Kuo Jung; Tang, Qiming; Jin, Bo; Schilling, James; Chou, C James; Han, Zhi; Floyd, Brendan J; Whitin, John C; Hwa, Kuo Yuan; Sylvester, Karl G; Chubb, Henry; Luo, Ruben Y; Tian, Lu; Cohen, Harvey J; McElhinney, Doff B

Proactive Variant Effect Mapping Aids Diagnosis in Pediatric Cardiac Arrest

主动变异效应映射有助于诊断儿童心脏骤停

Floyd, Brendan J; Weile, Jochen; Kannankeril, Prince J; Glazer, Andrew M; Reuter, Chloe M; MacRae, Calum A; Ashley, Euan A; Roden, Dan M; Roth, Frederick P; Parikh, Victoria N

Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants

多中心验证功能性检测方法以判定与SCN5A布鲁加达综合征相关的变异

Ma, Joanne G; O'Neill, Matthew J; Richardson, Ebony; Thomson, Kate L; Ingles, Jodie; Muhammad, Ayesha; Solus, Joseph F; Davogustto, Giovanni; Anderson, Katherine C; Benjamin Shoemaker, M; Stergachis, Andrew B; Floyd, Brendan J; Dunn, Kyla; Parikh, Victoria N; Chubb, Henry; Perrin, Mark J; Roden, Dan M; Vandenberg, Jamie I; Ng, Chai-Ann; Glazer, Andrew M