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

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

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion

亨廷顿病 LIG1 修饰基因变体可提高连接酶的保真度并抑制体细胞 CAG 重复序列扩增。

Lee, Eunhye; Kim, Wonju; Beier, David H; Lee, Yejin; Kovalenko, Marina; Saif, Faaiza; Oliver, Esaria; Srinageshwar, Bhairavi; Murtha, Ryan; Andrew, Marissa A; Jiang, Andrew; Gillis, Tammy; Demelo, Brigitte; Ruliera, Jayla; Lucente, Diane; Kwak, Seung; Lee, Ramee; Pinto, Ricardo Mouro; MacDonald, Marcy E; Gusella, James F; O'Brien, Patrick J; Wheeler, Vanessa C; Seong, Ihn Sik

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

Cardiovascular genetic counseling is associated with improved patient-reported outcomes across clinical indications and settings

心血管遗传咨询与各种临床适应症和环境下患者报告结局的改善相关。

Murray, Brittney; Gordon, Catherine; Christian, Susan; Dzwiniel, Tara; Tichnell, Crystal; Brown, Emily; MacCarrick, Gretchen; McClellan, Rebecca; Reuter, Chloe; Ison, Hannah; Carter, Jennefer; Moscarello, Tia; Murtha, Ryan; Pariani, Mitchel; Platt, Julia; Rigelsky, Christina; Clements, Diane; Crawford, Paul; Liu, Joseph; Jordan, Elizabeth; Hylind, Robyn J; Wong, Eugene K; Wang, Sarah; Lindsay-Mills, Zoe; Betts, Megan; Tricou, Eric; Sturm, Amy C; Buchanan, Adam H; Fitzgerald-Butt, Sara; Helm, Benjamin M; Yeates, Laura; Gen Couns, Grad Dip; Caleshu, Colleen; Ingles, Jodie; Gen Couns, Grad Dip; Yanek, Lisa; James, Cynthia A

Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

亨廷顿病 LIG1 修饰变体可提高连接酶的保真度并抑制体细胞 CAG 重复扩增

Lee Eunhye, Kim Wonju, Beier David H, Lee Yejin, Kovalenko Marina, Saif Faaiza, Oliver Esaria, Murtha Ryan, Andrew Marissa A, Gillis Tammy, Demelo Brigitte, Srinageshwar Bhairavi, Ruliera Jayla, Lucente Diane, Kwak Seung, Lee Ramee, Pinto Ricardo Mouro, MacDonald Marcy E, Gusella James F, O'Brien Patrick J, Wheeler Vanessa C, Seong Ihn Sik

Dissecting the Genomics of Spontaneous Coronary Artery Dissection

剖析自发性冠状动脉夹层的基因组学

Weldy, Chad S; Murtha, Ryan; Kim, Juyong Brian

Promotion of somatic CAG repeat expansion by Fan1 knock-out in Huntington's disease knock-in mice is blocked by Mlh1 knock-out

在亨廷顿病敲入小鼠中,Fan1 敲除促进体细胞 CAG 重复序列扩增的现象可被 Mlh1 敲除阻断。

Loupe, Jacob M; Pinto, Ricardo Mouro; Kim, Kyung-Hee; Gillis, Tammy; Mysore, Jayalakshmi S; Andrew, Marissa A; Kovalenko, Marina; Murtha, Ryan; Seong, IhnSik; Gusella, James F; Kwak, Seung; Howland, David; Lee, Ramee; Lee, Jong-Min; Wheeler, Vanessa C; MacDonald, Marcy E

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

全外显子组测序揭示的新生突变与自闭症密切相关

Sanders, Stephan J; Murtha, Michael T; Gupta, Abha R; Murdoch, John D; Raubeson, Melanie J; Willsey, A Jeremy; Ercan-Sencicek, A Gulhan; DiLullo, Nicholas M; Parikshak, Neelroop N; Stein, Jason L; Walker, Michael F; Ober, Gordon T; Teran, Nicole A; Song, Youeun; El-Fishawy, Paul; Murtha, Ryan C; Choi, Murim; Overton, John D; Bjornson, Robert D; Carriero, Nicholas J; Meyer, Kyle A; Bilguvar, Kaya; Mane, Shrikant M; Sestan, Nenad; Lifton, Richard P; Günel, Murat; Roeder, Kathryn; Geschwind, Daniel H; Devlin, Bernie; State, Matthew W