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

Phenotype-first patient matching with SimPheny identifies diagnostic candidates beyond curated gene associations

利用SimPheny进行表型优先的患者匹配,可以识别出除已筛选基因关联之外的诊断候选基因。

Cooperstein, Isabelle B; Ward, Alistair; Kobren, Shilpa N; Lebleu, Emerson; Moore, Barry; Spillmann, Rebecca C; Shashi, Vandana; Marth, Gabor T

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

针对罕见病诊断的优化变异优先级排序流程:Exomiser 和 Genomiser 的建议

Cooperstein, Isabelle B; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N; Carter, Jennefer N; Wheeler, Matthew T; Marth, Gabor T

Long-read single-cell RNA sequencing enables the study of cancer subclone-specific genotypes and phenotypes in chronic lymphocytic leukemia

长读长单细胞RNA测序技术能够研究慢性淋巴细胞白血病中癌症亚克隆特异性基因型和表型。

Black, Gage S; Huang, Xiaomeng; Qiao, Yi; Moos, Philip; Sampath, Deepa; Stephens, Deborah M; Woyach, Jennifer A; Marth, Gabor T

The Utah NeoSeq Project: a collaborative multidisciplinary program to facilitate genomic diagnostics in the neonatal intensive care unit

犹他州NeoSeq项目:一项旨在促进新生儿重症监护病房基因组诊断的多学科合作项目

Malone Jenkins, Sabrina; Palmquist, Rachel N; Moore, Barry; Boyden, Steven E; Nicholas, Thomas J; Bayrak-Toydemir, Pinar; Mao, Rong; Farrell, J Andrew R; Holt, Carson H; Rynearson, Shawn G; Solorzano, Chelsea M; Ward, Alistair; Best, D Hunter; Al-Sweel, Najla; Bentley, Dawn L; Brunelli, Luca; Chow, Clement Y; Close, Devin W; Cormier, Michael J; Deshotel, Malia J; Durtschi, Jacob; Eide, Erik J; Floyd, Luaiva; Fredrickson, Eric K; Fulmer, Makenzie L; Hernandez, Edgar J; Kapron, Ashley L; Karren, Mary Anne; Lewis, Robert G; Miller, Christine E; Murtaugh, L Charles; Nicholson, Kelsey E; Noble, Katherine; O'Fallon, Brendan D; O'Shea, John M; Pattison, David C; Pedersen, Brent S; Petersen, Brandy J; Peterson, Bennet D; Pizzo, Lucilla; Reynolds, Hayley M; Rindler, Paul; Torr, Carrie B; Wen, Ting; Yost, H Joseph; Zhao, Jian; Yandell, Mark; Marth, Gabor T; Quinlan, Aaron R; Carey, John C; Shayota, Brian J; Tristani-Firouzi, Martin; Bonkowsky, Joshua L

Rationale and design of APOLLO: a personalized rehAbilitation PrOgram in aLLOgeneic bone marrow transplantation

APOLLO 的原理和设计:同种异体骨髓移植中的个性化康复计划

Pituskin, Edith; Foulkes, Stephen; Skow, Rachel J; McMurtry, Thomas; Kruger, Calvin; Bates, Janet E; Lamoureux, Daena; Brandwein, Joseph; Lieuw, Elena; Wu, Cynthia; Zhu, Nancy; Wang, Peng; Sawler, Daniel; Taparia, Minakshi; Hamilton, Marlene; Comfort-Riddle, Tiffany; Meyer, Tara; Gyenes, Gabor T; Paterson, Ian; Prado, Carla M; Haykowsky, Mark J; Greiner, Justin G; McNeely, Margaret L; Tandon, Puneeta; Thompson, Richard B

Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data

利用短读长和长读长数据对超低等位基因频率下的体细胞单核苷酸变异和插入缺失检测进行全面基准测试

Jiny Ha, Yoo-Jin; Maziec, Dominika; Markowski, Julia; Georges, Stephanie J; Parmalee, Nancy L; Berselli, Michele; Coorens, Tim H H; Dong, Shihua; Gardiner, Stephanie; Kalra, Divya; Li, Daofeng; Miao, Benpeng; Musunuri, Rajeeva; Xue, Liying; Yu, Zhi; Walker, Kimberly; Anderson, Lisa; Au, Natalie Y T; Cibulskis, Carrie; Doddapaneni, Harsha; Grochowski, Christopher M; Jensen, Dana M; Lindsay, Tina; Loy, Kelsey; Narayan, Azeet; Narzisi, Giuseppe; Ou, Jeffrey; Pham, Meranda M; Runnels, Alexi M; Stergachis, Andrew B; Sutherlin, Lila M; Wang, Ting; Jin, Hu; Feng, William C; Zhang, Yuwei; Veit, Alexander D; TaeHee Kim, Clara; Chun, Hye-Jung E; Ardlie, Kristin; Fulton, Robert S; Germer, Soren; Gibbs, Richard; Marth, Gabor T; Bennett, James T; Park, Peter J

Single-cell RNA sequencing in Hirschsprung's disease tissues reveals lack of neuronal differentiation in the aganglionic colon segment.

对 Hirschsprung 病组织进行单细胞 RNA 测序发现,无神经节结肠段缺乏神经元分化

Tarapcsak Szabolcs, Huang Xiaomeng, Qiao Yi, Farrell Andrew, Mammen Lija, Lovichik Amy, Khanderao Gayatri D, Musci Teresa, Moos Philip J, Firpo Matthew A, Rollins Michael, Marth Gabor T

Clonal dynamics of aggressive systemic mastocytosis on avapritinib therapy

阿伐普利尼治疗下侵袭性系统性肥大细胞增生症的克隆动力学

Huang, Xiaomeng; Pomicter, Anthony D; Ahmann, Jonathan; Qiao, Yi; Chen, Opal S; George, Tracy I; Cruz-Rodriguez, Nataly; Guru, Sameer Ahmad; Marth, Gabor T; Deininger, Michael W

A Bayesian framework to study tumor subclone-specific expression by combining bulk DNA and single-cell RNA sequencing data

利用贝叶斯框架,结合批量DNA和单细胞RNA测序数据,研究肿瘤亚克隆特异性表达。

Qiao, Yi; Huang, Xiaomeng; Moos, Philip J; Ahmann, Jonathan M; Pomicter, Anthony D; Deininger, Michael W; Byrd, John C; Woyach, Jennifer A; Stephens, Deborah M; Marth, Gabor T

Differences in molecular sampling and data processing explain variation among single-cell and single-nucleus RNA-seq experiments

分子取样和数据处理方面的差异可以解释单细胞和单核RNA测序实验之间的差异。

Chamberlin, John T; Lee, Younghee; Marth, Gabor T; Quinlan, Aaron R