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

Leveraging Human Pangenome for Improved Somatic Variant Detection

利用人类泛基因组改进体细胞变异检测

Fu, Qichen; Xin, Zilan; Miao, Benpeng; Zhang, Wenjin; Kong, Nahyun; Tang, Zitian; Ruttenberg, Andrew; Albracht, Derek; Belter, Edward A; Garza, John E; Tomlinson, Chad; Mehinovic, Elvisa; Shen, Jiawei; Zhuo, Xiaoyu; Dong, Shihua; Johnson, Benjamin K; Majewski, Mary F; Palmer, Theron; Jang, H Josh; Cheng, Yuchen; Li, Zefan; Lawson, Heather A; Lindsay, Tina; Li, Daofeng; Fulton, Robert; Shen, Hui; Jin, Sheng Chih; Macias-Velasco, Juan F; Wang, Ting

Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer

对神经发育障碍和癌症中差异性错义变异聚类的蛋白质组学评估

Ng, Jeffrey K; Chen, Yilin; Akinwe, Titilope M; Heins, Hillary B; Mehinovic, Elvisa; Chang, Yoonhoo; Gutmann, David H; Gurnett, Christina A; Payne, Zachary L; Manuel, Juana G; Karchin, Rachel; Turner, Tychele N

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

释放多组学的力量:揭示周围神经病变的分子图谱

Choi, Julie; Tang, Zitian; Dong, Wendy; Ulibarri, Jenna; Mehinovic, Elvisa; Thomas, Simone; Höke, Ahmet; Jin, Sheng Chih

Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy

杂合子和纯合子 RFC1 AAGGG 重复序列扩增在特发性周围神经病中很常见

Tang, Zitian; Ovunc, Sinem S; Mehinovic, Elle; Thomas, Simone; Ulibarri, Jenna; Li, Zefan; Baldridge, Dustin; Cruchaga, Carlos; Johnson, Matt; Milbrandt, Jeffrey; Callaghan, Brian; Höke, Ahmet; Todd, Peter K; Jin, Sheng Chih

A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures

一种用于在HapMap混合物中建立体细胞变异检测资源的泛基因组方法

Kong, Nahyun; Tang, Zitian; Ruttenberg, Andrew; Macias-Velasco, Juan F; Li, Zefan; Zhang, Wenjin; Miao, Benpeng; Xin, Zilan; Fu, Qichen; Park, Haeorum; Zhuo, Xiaoyu; Mehinovic, Elvisa; Belter, Edward; Tomlinson, Chad; Garza, John E; Dong, Shihua; Casey, Emma; Johnson, Ben; Majewski, Mary F; Palmer, Theron; Cheng, Yuchen; Lindsay, Tina; Schedl, Tim; Li, Daofeng; Shen, Hui; Fulton, Robert; Wang, Ting; Jin, Sheng Chih

Proteome-Wide Assessment of Clustering of Missense Variants in Neurodevelopmental Disorders Versus Cancer

神经发育障碍与癌症中错义变异聚类的蛋白质组学评估

Ng, Jeffrey K; Chen, Yilin; Akinwe, Titilope M; Heins, Hillary B; Mehinovic, Elvisa; Chang, Yoonhoo; Payne, Zachary L; Manuel, Juana G; Karchin, Rachel; Turner, Tychele N

Quantitative determination of SLC2A1 variant functional effects in GLUT1 deficiency syndrome

定量测定SLC2A1变异体在GLUT1缺乏综合征中的功能效应

Tayebi, Naeimeh; Leon-Ricardo, Brian; McCall, Kevin; Mehinovic, Elvisa; Engelstad, Kristin; Huynh, Vincent; Turner, Tychele N; Weisenberg, Judy; Thio, Liu L; Hruz, Paul; Williams, Robin S B; De Vivo, Darryl C; Petit, Vincent; Haller, Gabe; Gurnett, Christina A

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

EBF3基因的编码和非编码变异与HADDS和单纯型自闭症有关。

Padhi, Evin M; Hayeck, Tristan J; Cheng, Zhang; Chatterjee, Sumantra; Mannion, Brandon J; Byrska-Bishop, Marta; Willems, Marjolaine; Pinson, Lucile; Redon, Sylvia; Benech, Caroline; Uguen, Kevin; Audebert-Bellanger, Séverine; Le Marechal, Cédric; Férec, Claude; Efthymiou, Stephanie; Rahman, Fatima; Maqbool, Shazia; Maroofian, Reza; Houlden, Henry; Musunuri, Rajeeva; Narzisi, Giuseppe; Abhyankar, Avinash; Hunter, Riana D; Akiyama, Jennifer; Fries, Lauren E; Ng, Jeffrey K; Mehinovic, Elvisa; Stong, Nick; Allen, Andrew S; Dickel, Diane E; Bernier, Raphael A; Gorkin, David U; Pennacchio, Len A; Zody, Michael C; Turner, Tychele N

Combined use of cytogenetic and molecular methods in prenatal diagnostics of chromosomal abnormalities

细胞遗传学和分子生物学方法在染色体异常产前诊断中的联合应用

Stomornjak-Vukadin, Meliha; Kurtovic-Basic, Ilvana; Mehinovic, Lejla; Konjhodzic, Rijad

Variations in diameters of vertebro-basilar tree in patients with or with no aneurysm

椎基底动脉树直径在有无动脉瘤患者中的差异

Mehinovic, Anel; Isakovic, Eldar; Delic, Jasmin