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

Dual Oral Iron Chelation (DOIC) in Children with Transfusion-Dependent Beta Thalassemia: Real-World Efficacy Data

双重口服铁螯合疗法(DOIC)治疗输血依赖型β地中海贫血患儿:真实世界疗效数据

Chadha, Amitoj Singh; Mohammad, Abaan Ul Haq Khazi; Nadakuditi, Naveen Kanth Dhãmi; Agrawal, Surbhi; Alex, Kenson Sam; Naik, Namratha S; Raj, John Michael; Prakash, Anand

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene

探讨转钴胺受体基因变体 CD320 p.E88del 的功能后果和临床意义

Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel-Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey, Marilyn L Browne, James L Mills, Carol Van Ryzin, Oleg Shchelochkov, Jennifer Sloan, Charles P Venditti, Kyriakie Sarafoglou, David S Rosenblatt, Deni

Establishing community reference samples, data and call sets for benchmarking cancer mutation detection using whole-genome sequencing

建立用于全基因组测序癌症突变检测基准测试的社区参考样本、数据和调用集

Li Tai Fang # ,Bin Zhu # ,Yongmei Zhao # ,Wanqiu Chen ,Zhaowei Yang ,Liz Kerrigan ,Kurt Langenbach ,Maryellen de Mars ,Charles Lu ,Kenneth Idler ,Howard Jacob ,Yuanting Zheng ,Luyao Ren ,Ying Yu ,Erich Jaeger ,Gary P Schroth ,Ogan D Abaan ,Keyur Talsania ,Justin Lack ,Tsai-Wei Shen ,Zhong Chen ,Seta Stanbouly ,Bao Tran ,Jyoti Shetty ,Yuliya Kriga ,Daoud Meerzaman ,Cu Nguyen ,Virginie Petitjean ,Marc Sultan ,Margaret Cam ,Monika Mehta ,Tiffany Hung ,Eric Peters ,Rasika Kalamegham ,Sayed Mohammad Ebrahim Sahraeian ,Marghoob Mohiyuddin ,Yunfei Guo ,Lijing Yao ,Lei Song ,Hugo Y K Lam ,Jiri Drabek ,Petr Vojta ,Roberta Maestro ,Daniela Gasparotto ,Sulev Kõks ,Ene Reimann ,Andreas Scherer ,Jessica Nordlund ,Ulrika Liljedahl ,Roderick V Jensen ,Mehdi Pirooznia ,Zhipan Li ,Chunlin Xiao ,Stephen T Sherry ,Rebecca Kusko ,Malcolm Moos ,Eric Donaldson ,Zivana Tezak ,Baitang Ning ,Weida Tong ,Jing Li ,Penelope Duerken-Hughes ,Claudia Catalanotti ,Shamoni Maheshwari ,Joe Shuga ,Winnie S Liang ,Jonathan Keats ,Jonathan Adkins ,Erica Tassone ,Victoria Zismann ,Timothy McDaniel ,Jeffrey Trent ,Jonathan Foox ,Daniel Butler ,Christopher E Mason ,Huixiao Hong ,Leming Shi ,Charles Wang ,Wenming Xiao

Toward best practice in cancer mutation detection with whole-genome and whole-exome sequencing

利用全基因组和全外显子组测序进行癌症突变检测的最佳实践

Wenming Xiao # ,Luyao Ren # ,Zhong Chen ,Li Tai Fang ,Yongmei Zhao ,Justin Lack ,Meijian Guan ,Bin Zhu ,Erich Jaeger ,Liz Kerrigan ,Thomas M Blomquist ,Tiffany Hung ,Marc Sultan ,Kenneth Idler ,Charles Lu ,Andreas Scherer ,Rebecca Kusko ,Malcolm Moos ,Chunlin Xiao ,Stephen T Sherry ,Ogan D Abaan ,Wanqiu Chen ,Xin Chen ,Jessica Nordlund ,Ulrika Liljedahl ,Roberta Maestro ,Maurizio Polano ,Jiri Drabek ,Petr Vojta ,Sulev Kõks ,Ene Reimann ,Bindu Swapna Madala ,Timothy Mercer ,Chris Miller ,Howard Jacob ,Tiffany Truong ,Ali Moshrefi ,Aparna Natarajan ,Ana Granat ,Gary P Schroth ,Rasika Kalamegham ,Eric Peters ,Virginie Petitjean ,Ashley Walton ,Tsai-Wei Shen ,Keyur Talsania ,Cristobal Juan Vera ,Kurt Langenbach ,Maryellen de Mars ,Jennifer A Hipp ,James C Willey ,Jing Wang ,Jyoti Shetty ,Yuliya Kriga ,Arati Raziuddin ,Bao Tran ,Yuanting Zheng ,Ying Yu ,Margaret Cam ,Parthav Jailwala ,Cu Nguyen ,Daoud Meerzaman ,Qingrong Chen ,Chunhua Yan ,Ben Ernest ,Urvashi Mehra ,Roderick V Jensen ,Wendell Jones ,Jian-Liang Li ,Brian N Papas ,Mehdi Pirooznia ,Yun-Ching Chen ,Fayaz Seifuddin ,Zhipan Li ,Xuelu Liu ,Wolfgang Resch ,Jingya Wang ,Leihong Wu ,Gokhan Yavas ,Corey Miles ,Baitang Ning ,Weida Tong ,Christopher E Mason ,Eric Donaldson ,Samir Lababidi ,Louis M Staudt ,Zivana Tezak ,Huixiao Hong ,Charles Wang ,Leming Shi

A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin

HIBCH 中的常见多态性独立于钴胺素影响血液中的甲基丙二酸浓度

Anne M Molloy, Faith Pangilinan, James L Mills, Barry Shane, Mary B O'Neill, David M McGaughey, Aneliya Velkova, Hatice Ozel Abaan, Per M Ueland, Helene McNulty, Mary Ward, J J Strain, Conal Cunningham, Miriam Casey, Cheryl D Cropp, Yoonhee Kim, Joan E Bailey-Wilson, Alexander F Wilson, Lawrence C B

miR-23a impairs bone differentiation in osteosarcoma via down-regulation of GJA1

miR-23a 通过下调 GJA1 损害骨肉瘤的骨分化

Yevgeniy Gindin, Yuan Jiang, Princy Francis, Robert L Walker, Ogan D Abaan, Yuelin J Zhu, Paul S Meltzer

High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias

MAP2K1突变在变异型和表达IGHV4-34的毛细胞白血病中高发

Waterfall, Joshua J; Arons, Evgeny; Walker, Robert L; Pineda, Marbin; Roth, Laura; Killian, J Keith; Abaan, Ogan D; Davis, Sean R; Kreitman, Robert J; Meltzer, Paul S

NCI-60 whole exome sequencing and pharmacological CellMiner analyses

NCI-60 全外显子组测序和药理学 CellMiner 分析

Reinhold, William C; Varma, Sudhir; Sousa, Fabricio; Sunshine, Margot; Abaan, Ogan D; Davis, Sean R; Reinhold, Spencer W; Kohn, Kurt W; Morris, Joel; Meltzer, Paul S; Doroshow, James H; Pommier, Yves

Genomics of CpG methylation in developing and developed zebrafish

斑马鱼发育和发育过程中CpG甲基化的基因组学研究

McGaughey, David M; Abaan, Hatice Ozel; Miller, Ryan M; Kropp, Peter A; Brody, Lawrence C

Epigenetic and genetic inactivation of tyrosyl-DNA-phosphodiesterase 1 (TDP1) in human lung cancer cells from the NCI-60 panel

NCI-60 组中人类肺癌细胞中酪氨酰-DNA-磷酸二酯酶 1 (TDP1) 的表观遗传和遗传失活

Rui Gao, Benu Brata Das, Raghunath Chatterjee, Ogan D Abaan, Keli Agama, Renata Matuo, Charles Vinson, Paul S Meltzer, Yves Pommier