Bernstein Kara A相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

Genetic and physical interactions reveal overlapping and distinct contributions to meiotic double-strand break formation in C. elegans

遗传和物理相互作用揭示了秀丽隐杆线虫减数分裂双链断裂形成过程中重叠和不同的贡献

影响因子:6.4

doi:10.7554/eLife.96458

Raices, Marilina; Balmir, Fabiola; Silva, Nicola; Li, Wei; Grundy, McKenzie K; Hoffman, Dane K; Altendorfer, Elisabeth; Camacho, Carlos J; Bernstein, Kara A; Colaiacovo, Monica P; Yanowitz, Judith L

发表日期：2026

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High-throughput mapping of 6,888 RAD51D variants identifies distinct biochemical functions needed for homologous recombination and olaparib response

对 6,888 个 RAD51D 变体进行高通量测序，鉴定出同源重组和奥拉帕尼反应所需的不同生化功能。

doi:10.64898/2026.01.11.698865

Darrah, Kristie E; Hemker, Shelby L; Rawal, Yashpal; Goff, Noah J; Parker, Phoebe; Ganesan, Gayatri; Stratton, Caleb M; Oppenheimer, Katherine; Roberts, Ella; Glick, Elena; Banks, Nicole; Kumar, Arjun; Casadei, Silvia; Snyder, Matthew W; Nathanson, Katherine; Domchek, Susan M; Starita, Lea M; Olsen, Shaun K; Sung, Patrick; Kitzman, Jacob O; Bernstein, Kara A

发表日期：2026

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Comprehensive RAD51C ovarian cancer variant analysis uncouples homologous recombination and replicative functions

全面的 RAD51C 卵巢癌变异分析揭示了同源重组和复制功能之间的关联

期刊:Nature Communications

影响因子:15.7

doi:10.1038/s41467-025-61283-2

Rein, Hayley L; Rawal, Yashpal; Palovcak-Lightbourn, Anna L; Ganesan, Gayatri S; Parker, Phoebe S; Russell, Reagan; Darrah, Kristie E; Afsar, Mohammad; Sullivan, Meghan R; Hengel, Sarah R; Radke, Marc R; Opresko, Patricia L; Yanowitz, Judith L; Greene, Eric C; Lee, Jung-Min; Domchek, Susan M; Swisher, Elizabeth M; Olsen, Shaun K; Sung, Patrick; Bernstein, Kara A

发表日期：2025

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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

ACMG/AMP变异注释指南中关于种系PALB2序列变异分析的规范

期刊:American Journal of Human Genetics

影响因子:8.1

doi:10.1016/j.ajhg.2025.08.020

Richardson, Marcy E; Bishop, Megan F H; Holdren, Megan A; de la Hoya, Miguel; Spurdle, Amanda B; Tavtigian, Sean V; Brannan, Terra; Young, Colin C; Zec, Lauren; Hiraki, Susan; Turnbull, Clare; Tischkowitz, Marc; Bernstein, Kara A; Masson, Jean-Yves; McNulty, Shannon M; Pesaran, Tina; Monteiro, Alvaro N; Walker, Logan C; Foulkes, William D; Couch, Fergus J

发表日期：2025

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Genetic and physical interactions reveal overlapping and distinct contributions to meiotic double-strand break formation in C. elegans

遗传和物理相互作用揭示了秀丽隐杆线虫减数分裂双链断裂形成过程中重叠和不同的贡献

doi:10.1101/2024.02.23.581796

Raices, Marilina; Balmir, Fabiola; Silva, Nicola; Li, Wei; Grundy, McKenzie K; Hoffman, Dane K; Altendorfer, Elisabeth; Camacho, Carlos Jaime; Bernstein, Kara A; Colaiácovo, Monica P; Yanowitz, Judith L

发表日期：2025

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Variants in the first methionine of RAD51C are homologous recombination proficient due to an alternative start site

RAD51C第一个甲硫氨酸的变异体由于具有不同的起始位点而具有同源重组能力。

期刊:DNA Repair

影响因子:2.7

doi:10.1016/j.dnarep.2024.103644

Rein, Hayley L; Bernstein, Kara A

发表日期：2024

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RAD51 Paralogs and RAD51 Paralog Complexes BCDX2 and CX3 Interact with BRCA2

RAD51旁系同源基因和RAD51旁系同源基因复合物BCDX2和CX3与BRCA2相互作用

doi:10.1101/2024.10.10.617680

Thrasher, Jacob G; Fagunloye, Adeola Augustus G; Justiniano, Fabricio S; Bernstein, Kara A; Jensen, Ryan B

发表日期：2024

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Finding significance: New perspectives in variant classification of the RAD51 regulators, BRCA2 and beyond

发现意义：RAD51调控因子、BRCA2及其他基因变异分类的新视角

期刊:DNA Repair

影响因子:2.7

doi:10.1016/j.dnarep.2023.103563

Rein, Hayley L; Bernstein, Kara A

发表日期：2023

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Homologous recombination-deficient mutation cluster in tumor suppressor RAD51C identified by comprehensive analysis of cancer variants

通过对癌症变异体的全面分析，鉴定出抑癌基因RAD51C中同源重组缺陷突变簇

期刊:Proceedings of the National Academy of Sciences of the United States of America

影响因子:9.1

doi:10.1073/pnas.2202727119

Prakash, Rohit; Rawal, Yashpal; Sullivan, Meghan R; Grundy, McKenzie K; Bret, Hélène; Mihalevic, Michael J; Rein, Hayley L; Baird, Jared M; Darrah, Kristie; Zhang, Fang; Wang, Raymond; Traina, Tiffany A; Radke, Marc R; Kaufmann, Scott H; Swisher, Elizabeth M; Guérois, Raphaël; Modesti, Mauro; Sung, Patrick; Jasin, Maria; Bernstein, Kara A

发表日期：2022

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Role and Regulation of the RECQL4 Family during Genomic Integrity Maintenance

RECQL4家族在基因组完整性维持中的作用和调控

影响因子:2.8

doi:10.3390/genes12121919

Luong, Thong T; Bernstein, Kara A

发表日期：2021

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