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

Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants

对脊髓性肌萎缩症敏感诊断和筛查系统进行多点评估和验证，该系统报告 SMN1 和 SMN2 拷贝数以及疾病修饰因子和基因重复变异

期刊:Journal of Molecular Diagnostics
影响因子:3.4
doi:10.1016/j.jmoldx.2021.03.004
John N Milligan, Jessica L Larson, Stela Filipovic-Sadic, Walairat Laosinchai-Wolf, Ya-Wen Huang, Tsang-Ming Ko, Kristin M Abbott, Henny H Lemmink, Minna Toivonen, Johanna Schleutker, Caren Gentile, Vivianna M Van Deerlin, Huiping Zhu, Gary J Latham
表观遗传
肌萎缩症
发表日期：2021
文献求助 收藏

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

对脆性X染色体综合征患者进行高分辨率FMR1核酸和蛋白质分析的基因型-表型研究及神经行为评估

期刊:Brain Sciences
影响因子:2.8
doi:10.3390/brainsci10100694
Budimirovic, Dejan B; Schlageter, Annette; Filipovic-Sadic, Stela; Protic, Dragana D; Bram, Eran; Mahone, E Mark; Nicholson, Kimberly; Culp, Kristen; Javanmardi, Kamyab; Kemppainen, Jon; Hadd, Andrew; Sharp, Kevin; Adayev, Tatyana; LaFauci, Giuseppe; Dobkin, Carl; Zhou, Lili; Brown, William Ted; Berry-Kravis, Elizabeth; Kaufmann, Walter E; Latham, Gary J
发表日期：2020
文献求助 收藏

Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study

X染色体失活偏倚与FMR1 CGG重复序列长度和抗苗勒氏管激素水平的相关性：一项队列研究

期刊:Reproductive Biology and Endocrinology
影响因子:4.7
doi:10.1186/s12958-017-0250-9
Barad, David H; Darmon, Sarah; Weghofer, Andrea; Latham, Gary J; Filipovic-Sadic; Wang, Qi; Kushnir, Vitaly A; Albertini, David F; Gleicher, Norbert
免疫/内分泌
发表日期：2017
文献求助 收藏

A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings

甲基化PCR方法可测定FMR1激活率，并区分携带者同胞中的前突变等位基因嵌合体。

期刊:Clinical Epigenetics
影响因子:4.4
doi:10.1186/s13148-016-0280-8
Hadd, Andrew G; Filipovic-Sadic, Stela; Zhou, Lili; Williams, Arianna; Latham, Gary J; Berry-Kravis, Elizabeth; Hall, Deborah A
表观遗传
发表日期：2016
文献求助 收藏

High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses

高分辨率甲基化聚合酶链式反应用于脆性X染色体分析：Southern印迹分析中未检测到的新型FMR1甲基化模式的证据

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1097/GIM.0b013e31820a780f
Chen, Liangjing; Hadd, Andrew; Sah, Sachin; Houghton, Jeffrey F; Filipovic-Sadic, Stela; Zhang, Wenting; Hagerman, Paul J; Tassone, Flora; Latham, Gary J
PCR
表观遗传
WB
发表日期：2011
文献求助 收藏

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome

一种新型 FMR1 PCR 方法，用于常规检测脆性 X 综合征中的低丰度扩增等位基因和完全突变

期刊:Clinical Chemistry
影响因子:7.1
doi:10.1373/clinchem.2009.136101
Stela Filipovic-Sadic, Sachin Sah, Liangjing Chen, Julie Krosting, Edward Sekinger, Wenting Zhang, Paul J Hagerman, Timothy T Stenzel, Andrew G Hadd, Gary J Latham, Flora Tassone
发表日期：2010
文献求助 收藏

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis

信息丰富的 CGG 重复引物 PCR 可检测所有脆性 X 扩增等位基因，并最大程度地减少对南方印迹分析的需求

期刊:Journal of Molecular Diagnostics
影响因子:3.4
doi:10.2353/jmoldx.2010.090227
Liangjing Chen, Andrew Hadd, Sachin Sah, Stela Filipovic-Sadic, Julie Krosting, Edward Sekinger, Ruiqin Pan, Paul J Hagerman, Timothy T Stenzel, Flora Tassone, Gary J Latham
信号转导
发表日期：2010
文献求助 收藏