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

Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes

大规模听力表型分析可识别与听力损失亚型相关的不同基因和通路

Ahmed, Samah; Vaden, Kenneth I Jr; Lewis, Morag A; Leitao, Darren; Steel, Karen P; Dubno, Judy R; Drögemöller, Britt I

The importance of accurate phenotyping in large-scale analyses of common disorders such as hearing loss

在对听力损失等常见疾病进行大规模分析时,准确表型分析的重要性

Lewis, Morag A; Schulte, Bradley A; Dubno, Judy R; Steel, Karen P

Genes underlying hereditary hearing impairment in humans and in mice

人类和小鼠遗传性听力障碍的基因

Lewis, Morag A; Steel, Karen P

Targeted genome editing restores auditory function in adult mice with progressive hearing loss caused by a human microRNA mutation

靶向基因组编辑可恢复因人类 microRNA 突变导致进行性听力丧失的成年小鼠的听觉功能

Wenliang Zhu, Wan Du, Arun Prabhu Rameshbabu, Ariel Miura Armstrong, Stewart Silver, Yehree Kim, Wei Wei, Yilai Shu, Xuezhong Liu, Morag A Lewis, Karen P Steel, Zheng-Yi Chen

Pathological mechanisms and candidate therapeutic approaches in the hearing loss of mice carrying human MIR96 mutations

携带人类MIR96突变的小鼠听力损失的病理机制和候选治疗方法

Morag A Lewis ,Maria Lachgar-Ruiz ,Francesca Di Domenico ,Graham Duddy ,Jing Chen ,Sergio Fernandez ,Matias Morin ,Gareth Williams ,Miguel Angel Moreno Pelayo ,Karen P Steel

Investigating the effects of a cryptic splice site in the En2 splice acceptor sequence used in the IKMC knockout-first alleles

研究 IKMC 第一个敲除等位基因中使用的 En2 剪接受体序列中隐秘剪接位点的影响

Prerna Nair, Karen P Steel, Morag A Lewis

Two new mouse alleles of Ocm and Slc26a5

小鼠中两个新的 Ocm 和 Slc26a5 等位基因

Marìa Lachgar-Ruiz, Neil J Ingham, Elisa Martelletti, Jing Chen, Elysia James, Clarisse Panganiban, Morag A Lewis, Karen P Steel

Insights into the pathophysiology of DFNA44 hearing loss associated with CCDC50 frameshift variants

深入了解与 CCDC50 移码变异相关的 DFNA44 听力损失的病理生理学

María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J Ingham, Lorenzo Preite, Morag A Lewis, Luciana Santos Serrão de Castro, Karen P Steel, Miguel Ángel Moreno-Pelayo

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

透光相关 formin 2 (DIAPH2) 的深入遗传和分子表征及其在内耳中的作用

Chiara Chiereghin, Michela Robusto, Morag A Lewis, Susana Caetano, Valentina Massa, Pierangela Castorina, Umberto Ambrosetti, Karen P Steel, Stefano Duga, Rosanna Asselta, Giulia Soldà

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss

准确的表型分类和外显子组测序能够识别与成人发病性听力损失相关的新基因和变异。

Lewis, Morag A; Schulte, Jennifer; Matthews, Lois; Vaden, Kenneth I Jr; Steves, Claire J; Williams, Frances M K; Schulte, Bradley A; Dubno, Judy R; Steel, Karen P