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

An ANGPTL4 inhibitory antibody safely improves lipid profiles in non-human primates.

ANGPTL4抑制抗体可安全改善非人灵长类动物的血脂谱

Cummings Beryl B, Bouchard Page R, Milton Mark N, Moesta Peter F, Ramanan Vyas, Trauger John W, Maratos-Flier Eleftheria, Voznesensky Andrei, Splawski Igor, Nimonkar Amitabh V, DiPetrillo Keith, LaSala Daniel, Pan Meihui, Flaherty Meghan M, Huet Francois, Sahambi Sukhdeep K, Dong Jijun, Knee Deborah, Cebe Regis, Huber Thomas, Lehrer-Graiwer Joshua, Juliano Rebecca A, Weiss Ethan J

Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

对由复发性变异 COL6A1 c.930+189C>T 引起的严重 COL6 相关营养不良症进行表征

A Reghan Foley,Véronique Bolduc,Fady Guirguis,Sandra Donkervoort,Ying Hu,Rotem Orbach,Riley M McCarty,Apurva Sarathy,Gina Norato,Beryl B Cummings,Monkol Lek,Anna Sarkozy,Russell J Butterfield,Janbernd Kirschner,Andrés Nascimento,Daniel Natera-de Benito,Susana Quijano-Roy,Tanya Stojkovic,Luciano Merlini,Giacomo Comi,Monique Ryan,Denise McDonald,Pinki Munot,Grace Yoon,Edward Leung,Erika Finanger,Meganne E Leach,Yoram Nevo,Ichizo Nishino,Cecilia Jimenez-Mallebrera,Shireen R Lamandé,Valérie Allamand,Francesca Gualandi,Alessandra Ferlini,Daniel G MacArthur,Steve D Wilton,Raimund Wagener,Enrico Bertini,Francesco Muntoni,Carsten G Bönnemann

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

涉及肌肉特异性蛋白激酶和巨型肌联蛋白的双基因遗传导致骨骼肌肌病

Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Ha

Relationship of Fat Mass Ratio, a Biomarker for Lipodystrophy, With Cardiometabolic Traits

脂肪质量比(一种脂肪营养不良的生物标志物)与心血管代谢特征的关系

Agrawal, Saaket; Luan, Jian'an; Cummings, Beryl B; Weiss, Ethan J; Wareham, Nick J; Khera, Amit V

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

复发性深内含子假外显子诱导变异 COL6A1 c.930+189C>T 导致 COL6 相关营养不良症的持续严重表型:朝着剪接调节疗法的临床试验准备迈进

Foley A Reghan, Bolduc Véronique, Guirguis Fady, Donkervoort Sandra, Hu Ying, Orbach Rotem, McCarty Riley M, Sarathy Apurva, Norato Gina, Cummings Beryl B, Lek Monkol, Sarkozy Anna, Butterfield Russell J, Kirschner Janbernd, Nascimento Andrés, Benito Daniel Natera-de, Quijano-Roy Susana, Stojkovic Tanya, Merlini Luciano, Comi Giacomo, Ryan Monique, McDonald Denise, Munot Pinki, Yoon Grace, Leung Edward, Finanger Erika, Leach Meganne E, Collins James, Tian Cuixia, Mohassel Payam, Neuhaus Sarah B, Saade Dimah, Cocanougher Benjamin T, Chu Mary-Lynn, Scavina Mena, Grosmann Carla, Richardson Randal, Kossak Brian D, Gospe Sidney M Jr, Bhise Vikram, Taurina Gita, Lace Baiba, Troncoso Monica, Shohat Mordechai, Shalata Adel, Chan Sophelia H S, Jokela Manu, Palmio Johanna, Haliloğlu Göknur, Jou Cristina, Gartioux Corine, Solomon-Degefa Herimela, Freiburg Carolin D, Schiavinato Alvise, Zhou Haiyan, Aguti Sara, Nevo Yoram, Nishino Ichizo, Jimenez-Mallebrera Cecilia, Lamandé Shireen R, Allamand Valérie, Gualandi Francesca, Ferlini Alessandra, MacArthur Daniel G, Wilton Steve D, Wagener Raimund, Bertini Enrico, Muntoni Francesco, Bönnemann Carsten G

TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A

TDP-43 抑制 FTD-ALS 基因 UNC13A 中的隐秘外显子包含

X Rosa Ma #, Mercedes Prudencio #, Yuka Koike #, Sarat C Vatsavayai, Garam Kim, Fred Harbinski, Adam Briner, Caitlin M Rodriguez, Caiwei Guo, Tetsuya Akiyama, H Broder Schmidt, Beryl B Cummings, David W Wyatt, Katherine Kurylo, Georgiana Miller, Shila Mekhoubad, Nathan Sallee, Gemechu Mekonnen, Laur

Transcriptome variation in human tissues revealed by long-read sequencing

长读长测序揭示人类组织转录组变异

Glinos, Dafni A; Garborcauskas, Garrett; Hoffman, Paul; Ehsan, Nava; Jiang, Lihua; Gokden, Alper; Dai, Xiaoguang; Aguet, François; Brown, Kathleen L; Garimella, Kiran; Bowers, Tera; Costello, Maura; Ardlie, Kristin; Jian, Ruiqi; Tucker, Nathan R; Ellinor, Patrick T; Harrington, Eoghan D; Tang, Hua; Snyder, Michael; Juul, Sissel; Mohammadi, Pejman; MacArthur, Daniel G; Lappalainen, Tuuli; Cummings, Beryl B

Author Correction: The effect of LRRK2 loss-of-function variants in humans

作者更正:LRRK2功能缺失变异对人类的影响

Whiffin, Nicola; Armean, Irina M; Kleinman, Aaron; Marshall, Jamie L; Minikel, Eric V; Goodrich, Julia K; Quaife, Nicholas M; Cole, Joanne B; Wang, Qingbo; Karczewski, Konrad J; Cummings, Beryl B; Francioli, Laurent; Laricchia, Kristen; Guan, Anna; Alipanahi, Babak; Morrison, Peter; Baptista, Marco A S; Merchant, Kalpana M; Ware, James S; Havulinna, Aki S; Iliadou, Bozenna; Lee, Jung-Jin; Nadkarni, Girish N; Whiteman, Cole; Daly, Mark; Esko, Tõnu; Hultman, Christina; Loos, Ruth J F; Milani, Lili; Palotie, Aarno; Pato, Carlos; Pato, Michele; Saleheen, Danish; Sullivan, Patrick F; Alföldi, Jessica; Cannon, Paul; MacArthur, Daniel G

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

作者更正:突变约束谱是基于141,456名人类的变异量化的。

Karczewski, Konrad J; Francioli, Laurent C; Tiao, Grace; Cummings, Beryl B; Alföldi, Jessica; Wang, Qingbo; Collins, Ryan L; Laricchia, Kristen M; Ganna, Andrea; Birnbaum, Daniel P; Gauthier, Laura D; Brand, Harrison; Solomonson, Matthew; Watts, Nicholas A; Rhodes, Daniel; Singer-Berk, Moriel; England, Eleina M; Seaby, Eleanor G; Kosmicki, Jack A; Walters, Raymond K; Tashman, Katherine; Farjoun, Yossi; Banks, Eric; Poterba, Timothy; Wang, Arcturus; Seed, Cotton; Whiffin, Nicola; Chong, Jessica X; Samocha, Kaitlin E; Pierce-Hoffman, Emma; Zappala, Zachary; O'Donnell-Luria, Anne H; Minikel, Eric Vallabh; Weisburd, Ben; Lek, Monkol; Ware, James S; Vittal, Christopher; Armean, Irina M; Bergelson, Louis; Cibulskis, Kristian; Connolly, Kristen M; Covarrubias, Miguel; Donnelly, Stacey; Ferriera, Steven; Gabriel, Stacey; Gentry, Jeff; Gupta, Namrata; Jeandet, Thibault; Kaplan, Diane; Llanwarne, Christopher; Munshi, Ruchi; Novod, Sam; Petrillo, Nikelle; Roazen, David; Ruano-Rubio, Valentin; Saltzman, Andrea; Schleicher, Molly; Soto, Jose; Tibbetts, Kathleen; Tolonen, Charlotte; Wade, Gordon; Talkowski, Michael E; Neale, Benjamin M; Daly, Mark J; MacArthur, Daniel G

Author Correction: Transcript expression-aware annotation improves rare variant interpretation

作者更正:转录本表达感知注释可改善罕见变异的解读

Cummings, Beryl B; Karczewski, Konrad J; Kosmicki, Jack A; Seaby, Eleanor G; Watts, Nicholas A; Singer-Berk, Moriel; Mudge, Jonathan M; Karjalainen, Juha; Satterstrom, F Kyle; O'Donnell-Luria, Anne H; Poterba, Timothy; Seed, Cotton; Solomonson, Matthew; Alföldi, Jessica; Daly, Mark J; MacArthur, Daniel G