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

The AudioGene Translational Dashboard for Diagnosing Autosomal Dominant Nonsyndromic Hearing Loss: Phenotypic Data Visualization and Analysis Study

AudioGene转化应用平台在诊断常染色体显性非综合征型听力损失中的应用:表型数据可视化和分析研究

DeSollar, Benjamin; Schaefer, Nathan; Walls, Daniel; Odell, Amanda M; Booth, Kevin T A; Azaiez, Hela; Schnieders, Michael; Smith, Richard J H; Braun, Terry; Casavant, Thomas

The auditory midbrain mediates tactile vibration sensing.

听觉中脑负责感知触觉振动

Huey Erica L, Turecek Josef, Delisle Michelle M, Mazor Ofer, Romero Gabriel E, Dua Malvika, Sarafis Zoe K, Hobble Alexis, Booth Kevin T, Goodrich Lisa V, Corey David P, Ginty David D

Cell-specific delivery of GJB2 restores auditory function in mouse models of DFNB1 deafness and mediates appropriate expression in NHP cochlea

细胞特异性递送GJB2可恢复DFNB1耳聋小鼠模型的听觉功能,并介导其在非人灵长类动物耳蜗中的适当表达。

Ivanchenko, Maryna V; Booth, Kevin T A; Karavitaki, K Domenica; Antonellis, Larisa M; Nagy, M Aurel; Peters, Cole W; Price, Spencer; Li, Yaqiao; Lytvyn, Anton; Ward, Andrew; Griffith, Eric C; Hrvatin, Sinisa; Greenberg, Michael E; Corey, David P

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

DDX39B基因的新生突变和遗传突变会导致一种新的神经发育综合征。

Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Wan-Hei Hui, Jeffrey; White, Kerry; Christensen, Celanie K; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H Y; Lynch, Sally A; Mullegama, Sureni V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K; Wong, Sandra Y Y; Mak, Christopher C Y; Kwong, Anna K Y; Bellen, Hugo J; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F; Chung, Brian H Y; Vetrini, Francesco

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

ClinGen对听力损失相关基因的重新整理表明,随着时间的推移,基因-疾病有效性发生了显著变化。

Tshering, Kezang C; DiStefano, Marina T; Oza, Andrea M; Ajuyah, Pamela; Webb, Ryan; Edoh, Enyonam; Broeren, Ellie; Ratliff, Julie; Gitau, Vanessa; Paris, Kelley; Aburyyan, Amal; Alexander, John; Albano, Victoria; Bai, Donglin; Booth, Kevin T A; Buonfiglio, Paula I; Charfeddine, Cherine; Dalamón, Viviana; Castillo, Ignacio Del; Moreno-Pelayo, Miguel Angel; Duzkale, Hatice; Dorshorst, Ben; Faridi, Rabia; Kenna, Margaret; Lewis, Morag A; Luo, Minjie; Lu, Yu; Mkaouar, Rahma; Matsunaga, Tatsuo; Nara, Kiyomitsu; Pandya, Arti; Redfield, Shelby; Roux, Isabelle; Schimmenti, Lisa A; Schrauwen, Isabelle; Shaaban, Sherin; Shen, Jun; Vona, Barbara; Smith, Richard J; Rehm, Heidi L; Azaiez, Hela; Abou Tayoun, Ahmad N; Amr, Sami S

Investigation of GSDME results in the identification of the first pathogenic synonymous variants and genotype-phenotype correlations

对 GSDME 的研究结果发现了首批致病性同义变异和基因型-表型相关性。

Chin, Joseph J; Walls, W Daniel; Wang, Kai; Odell, Amanda M; Kolbe, Diana L; Booth, Kevin T A; Azaiez, Hela; Smith, Richard J H

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

显性负性 ATP5F1A 变体破坏氧化磷酸化,导致神经系统疾病

Fielder Sara M, Friederich Marisa W, Hock Daniella H, Zhang Jessie R, Valin Liana M, Rosenfeld Jill A, Booth Kevin T A, Brown Natasha J, Rius Rocio, Sharma Tanavi, Semcesen Liana N, Worley Kim C, Burrage Lindsay C, Treat Kayla, Samson Tara, Govert Sarah, DaCunha Sara, Yuan Weimin, Chen Jian, Lesinski Jacob, Hoang Hieu, Morrison Stephanie A, Ladha Farah A, Van Hove Roxanne A, Michel Cole R, Reisdorph Richard, Tycksen Eric, Baldridge Dustin, Silverman Gary A, Soler-Alfonso Claudia, Conboy Erin, Vetrini Francesco, Emrick Lisa, Craigen William J, Sykes Stephen M, Stroud David A, Van Hove Johan L K, Schedl Tim, Pak Stephen C

Human cochlear diffusion from the cerebrospinal fluid space with gadolinium contrast

利用钆对比剂观察人耳蜗脑脊液空间的扩散情况

Totten, Douglas J; Booth, Kevin T A; Mosier, Kristine M; Cumpston, Evan C; Whitted, Cody; Okechuku, Vanessa; Koontz, Nicholas A; Nelson, Rick F

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

BICD1基因双等位基因功能丧失变异与周围神经病变和听力丧失相关

Hirsch, Yoel; Chung, Wendy K; Novoselov, Sergey; Weimer, Louis H; Rossor, Alexander; LeDuc, Charles A; McPartland, Amanda J; Cabrera, Ernesto; Ekstein, Josef; Scher, Sholem; Nelson, Rick F; Schiavo, Giampietro; Henderson, Lindsay B; Booth, Kevin T A

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

疾病特异性的ACMG/AMP指南改进了听力损失的序列变异解读。

Patel, Mayher J; DiStefano, Marina T; Oza, Andrea M; Hughes, Madeline Y; Wilcox, Emma H; Hemphill, Sarah E; Cushman, Brandon J; Grant, Andrew R; Siegert, Rebecca K; Shen, Jun; Chapin, Alex; Boczek, Nicole J; Schimmenti, Lisa A; Nara, Kiyomitsu; Kenna, Margaret; Azaiez, Hela; Booth, Kevin T; Avraham, Karen B; Kremer, Hannie; Griffith, Andrew J; Rehm, Heidi L; Amr, Sami S; Tayoun, Ahmad N Abou