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

Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial

鞘内注射onasemnogene abeparvovec治疗初治脊髓性肌萎缩症患者：一项3期随机对照试验

期刊:Nature Medicine
影响因子:50
doi:10.1038/s41591-025-04103-w
Proud, Crystal M; Vũ, Dũng Chí; Wilmshurst, Jo M; Sanmaneechai, Oranee; Gulati, Sheffali; Xiong, Hui; Moreno, Hugo C; Tay, Stacey Kiat Hong; Thong, Meow-Keong; Born, Alfred Peter; Banzzatto Ortega, Adriana; Jong, Yuh-Jyh; Al-Muhaizea, Mohammad A; Lee, Anna W; Visootsak, Jeannie; Tauscher-Wisniewski, Sitra; Alecu, Iulian; Parlikar, Rutvick; Finkel, Richard S
神经科学
肌萎缩症
发表日期：2026
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A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABA(A)-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

一项随机、双盲、安慰剂对照的II期临床试验，旨在探索GABA(A)-α5 NAM（巴斯米沙尼）对唐氏综合征相关智力障碍的影响。

期刊:Journal of Neurodevelopmental Disorders
影响因子:4
doi:10.1186/s11689-022-09418-0
Goeldner, Celia; Kishnani, Priya S; Skotko, Brian G; Casero, Julian Lirio; Hipp, Joerg F; Derks, Michael; Hernandez, Maria-Clemencia; Khwaja, Omar; Lennon-Chrimes, Sian; Noeldeke, Jana; Pellicer, Sabine; Squassante, Lisa; Visootsak, Jeannie; Wandel, Christoph; Fontoura, Paulo; d'Ardhuy, Xavier Liogier
发表日期：2022
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Arbaclofen in fragile X syndrome: results of phase 3 trials

阿巴氯芬治疗脆性X综合征：3期临床试验结果

期刊:Journal of Neurodevelopmental Disorders
影响因子:4
doi:10.1186/s11689-016-9181-6
Berry-Kravis, Elizabeth; Hagerman, Randi; Visootsak, Jeannie; Budimirovic, Dejan; Kaufmann, Walter E; Cherubini, Maryann; Zarevics, Peter; Walton-Bowen, Karen; Wang, Paul; Bear, Mark F; Carpenter, Randall L
发表日期：2017
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Influence of CHDs on psycho-social and neurodevelopmental outcomes in children with Down syndrome

先天性心脏病对唐氏综合征患儿心理社会和神经发育结果的影响

期刊:Cardiology in the Young
影响因子:0.7
doi:10.1017/S1047951115000062
Visootsak, Jeannie; Huddleston, Lillie; Buterbaugh, Allison; Perkins, Adrienne; Sherman, Stephanie; Hunter, Jessica
心脏病
发育与干细胞
心血管
神经科学
发表日期：2016
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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

FMR1错义突变与智力障碍和癫痫相关，揭示了突触前FMRP的独立作用

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.1423094112
Myrick, Leila K; Deng, Pan-Yue; Hashimoto, Hideharu; Oh, Young Mi; Cho, Yongcheol; Poidevin, Mickael J; Suhl, Joshua A; Visootsak, Jeannie; Cavalli, Valeria; Jin, Peng; Cheng, Xiaodong; Warren, Stephen T; Klyachko, Vitaly A
癫痫
神经科学
发表日期：2015
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Sleep profiles in children with Down syndrome

唐氏综合征儿童的睡眠特征

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.37096
Bassell, Julia L; Phan, Han; Leu, Roberta; Kronk, Rebecca; Visootsak, Jeannie
发表日期：2015
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A 3' untranslated region variant in FMR1 eliminates neuronal activity-dependent translation of FMRP by disrupting binding of the RNA-binding protein HuR

FMR1 中的 3’ 非翻译区变体通过破坏 RNA 结合蛋白 HuR 的结合，消除了神经元活动依赖的 FMRP 翻译

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:
doi:10.1073/pnas.1514260112
Joshua A Suhl, Ravi S Muddashetty, Bart R Anderson, Marius F Ifrim, Jeannie Visootsak, Gary J Bassell, Stephen T Warren
信号转导
神经
Translational Control
发表日期：2015
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Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus

全基因组分析证实脆性 X 综合征中的异常甲基化是 FMR1 基因座特有的

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/1471-2350-14-18
Reid S Alisch, Tao Wang, Pankaj Chopra, Jeannie Visootsak, Karen N Conneely, Stephen T Warren
表观遗传
DNA甲基化
发表日期：2013
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Klinefelter syndrome and other sex chromosomal aneuploidies

克氏综合征和其他性染色体非整倍体

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/1750-1172-1-42
Visootsak, Jeannie; Graham, John M Jr
发表日期：2006
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