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

Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions

扩展携带者筛查的临床有效性:评估200多种疾病的基因-疾病关系

Balzotti, Marie; Meng, Linyan; Muzzey, Dale; Johansen Taber, Katherine; Beauchamp, Kyle; Curation Team, Myriad Genetics; Curation Team, Baylor Genetics; Mar-Heyming, Rebecca; Buckley, Bethany; Moyer, Krista

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

ClinGen听力损失专家组对GJB2基因中p.Met34Thr和p.Val37Ile变异的共识性解读

Shen, Jun; Oza, Andrea M; Del Castillo, Ignacio; Duzkale, Hatice; Matsunaga, Tatsuo; Pandya, Arti; Kang, Hyunseok P; Mar-Heyming, Rebecca; Guha, Saurav; Moyer, Krista; Lo, Christine; Kenna, Margaret; Alexander, John J; Zhang, Yan; Hirsch, Yoel; Luo, Minjie; Cao, Ye; Wai Choy, Kwong; Cheng, Yen-Fu; Avraham, Karen B; Hu, Xinhua; Garrido, Gema; Moreno-Pelayo, Miguel A; Greinwald, John; Zhang, Kejian; Zeng, Yukun; Brownstein, Zippora; Basel-Salmon, Lina; Davidov, Bella; Frydman, Moshe; Weiden, Tzvi; Nagan, Narasimhan; Willis, Alecia; Hemphill, Sarah E; Grant, Andrew R; Siegert, Rebecca K; DiStefano, Marina T; Amr, Sami S; Rehm, Heidi L; Abou Tayoun, Ahmad N

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening

实验室间变异分类的一致性证实了扩展携带者筛查的临床有效性

Kaseniit, Kristjan E; Collins, Elizabeth; Lo, Christine; Moyer, Krista; Mar-Heyming, Rebecca; Kang, Hyunseok P; Muzzey, Dale

Systematic design and comparison of expanded carrier screening panels

系统地设计和比较扩展型携带者筛查方案

Beauchamp, Kyle A; Muzzey, Dale; Wong, Kenny K; Hogan, Gregory J; Karimi, Kambiz; Candille, Sophie I; Mehta, Nikita; Mar-Heyming, Rebecca; Kaseniit, K Eerik; Kang, H Peter; Evans, Eric A; Goldberg, James D; Lazarin, Gabriel A; Haque, Imran S

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

通过异常值方法,对 41 个临床实验室在 ClinVar 数据库中变异分类差异的分辨率进行缩放。

Harrison, Steven M; Dolinksy, Jill S; Chen, Wenjie; Collins, Christin D; Das, Soma; Deignan, Joshua L; Garber, Kathryn B; Garcia, John; Jarinova, Olga; Knight Johnson, Amy E; Koskenvuo, Juha W; Lee, Hane; Mao, Rong; Mar-Heyming, Rebecca; McFaddin, Andrew S; Moyer, Krista; Nagan, Narasimhan; Rentas, Stefan; Santani, Avni B; Seppälä, Eija H; Shirts, Brian H; Tidwell, Timothy; Topper, Scott; Vincent, Lisa M; Vinette, Kathy; Rehm, Heidi L

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing

设计和验证用于遗传性BRCA1和BRCA2突变检测的下一代测序方法

Kang, Hyunseok P; Maguire, Jared R; Chu, Clement S; Haque, Imran S; Lai, Henry; Mar-Heyming, Rebecca; Ready, Kaylene; Vysotskaia, Valentina S; Evans, Eric A

Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice

上游转录因子1影响小鼠血浆脂质和代谢特征

Wu, Sulin; Mar-Heyming, Rebecca; Dugum, Eric Z; Kolaitis, Nicholas A; Qi, Hongxiu; Pajukanta, Päivi; Castellani, Lawrence W; Lusis, Aldons J; Drake, Thomas A

Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia

硬脂酰辅酶A去饱和酶1活性与家族性混合型高脂血症的相关性

Mar-Heyming, Rebecca; Miyazaki, Makoto; Weissglas-Volkov, Daphna; Kolaitis, Nicholas A; Sadaat, Narimaan; Plaisier, Christopher; Pajukanta, Päivi; Cantor, Rita M; de Bruin, Tjerk W A; Ntambi, James M; Lusis, Aldons J