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

Association of PHEX Gene Dosage With Meniere Disease and Related Audiovestibular Phenotypes in X-Linked Hypophosphatemia

PHEX基因剂量与X连锁低磷血症中梅尼埃病及相关听觉前庭表型的关联

Robles-Bolivar, Paula; Bächinger, David; Bose, Arpan; Ramirez, Kimberly; Brown, Alison; Juliano, Amy F; Lopez-Escamez, Jose Antonio; Kujawa, Sharon G; Liu, Eva S; Amr, Sami S; Rauch, Steven D; Eckhard, Andreas H; Chari, Divya A

Integrated Histology and Molecular Profiling of Postmortem Human Auditory and Vestibular Organs via a Poly (Methyl Methacrylate)-Based Workflow.

通过基于聚甲基丙烯酸甲酯的工作流程对死后人类听觉和前庭器官进行组织学和分子分析。

Bächinger David, Peyton Brock, Neubauer Jacqueline, Dharmarajan Anbuselvan, Zhu MengYu, O'Malley Jennifer T, Kallupurackal Venus, Senese Steven, Brown Alison, Wunderlin Sabina, Kreutzer Susanne, Weiss Nora M, Richter Heiko, Dalbert Adrian, Röösli Christof, Kipar Anja, Varga Zsuzsanna, von Rechenberg Brigitte, Amr Sami S, Eckhard Andreas H

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

Integrated Histology and Molecular Profiling of Postmortem Human Auditory and Vestibular Organs via a Poly(Methyl Methacrylate)-Based Workflow.

通过基于聚甲基丙烯酸甲酯的工作流程对死后人类听觉和前庭器官进行组织学和分子分析

Bächinger David, Peyton Brock, Neubauer Jacqueline, Dharmarajan Anbuselvan, Zhu MengYu, O'Malley Jennifer T, Kallupurackal Venus, Senese Steven, Brown Alison, Wunderlin Sabina, Kreutzer Susanne, Weiss Nora M, Richter Heiko, Dalbert Adrian, Röösli Christof, Kipar Anja, Varga Zsuzsanna, von Rechenberg Brigitte, Amr Sami S, Eckhard Andreas H

Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease

全基因组生存研究发现了一个新的突触位点和与帕金森病认知进展相关的多基因评分

Liu, Ganqiang; Peng, Jiajie; Liao, Zhixiang; Locascio, Joseph J; Corvol, Jean-Christophe; Zhu, Frank; Dong, Xianjun; Maple-Grødem, Jodi; Campbell, Meghan C; Elbaz, Alexis; Lesage, Suzanne; Brice, Alexis; Mangone, Graziella; Growdon, John H; Hung, Albert Y; Schwarzschild, Michael A; Hayes, Michael T; Wills, Anne-Marie; Herrington, Todd M; Ravina, Bernard; Shoulson, Ira; Taba, Pille; Kõks, Sulev; Beach, Thomas G; Cormier-Dequaire, Florence; Alves, Guido; Tysnes, Ole-Bjørn; Perlmutter, Joel S; Heutink, Peter; Amr, Sami S; van Hilten, Jacobus J; Kasten, Meike; Mollenhauer, Brit; Trenkwalder, Claudia; Klein, Christine; Barker, Roger A; Williams-Gray, Caroline H; Marinus, Johan; Scherzer, Clemens R

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

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

MYO15A基因的一个同义变异在德系犹太人群体中富集,由于异常剪接导致常染色体隐性遗传性听力损失。

Hirsch, Yoel; Tangshewinsirikul, Chayada; Booth, Kevin T; Azaiez, Hela; Yefet, Devorah; Quint, Adina; Weiden, Tzvi; Brownstein, Zippora; Macarov, Michal; Davidov, Bella; Pappas, John; Rabin, Rachel; Kenna, Margaret A; Oza, Andrea M; Lafferty, Katherine; Amr, Sami S; Rehm, Heidi L; Kolbe, Diana L; Frees, Kathy; Nishimura, Carla; Luo, Minjie; Farra, Chantal; Morton, Cynthia C; Scher, Sholem Y; Ekstein, Josef; Avraham, Karen B; Smith, Richard J H; Shen, Jun

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients

听力损失患者中致病性OTOA基因转换的分子特征

Laurent, Sacha; Gehrig, Corinne; Nouspikel, Thierry; Amr, Sami S; Oza, Andrea; Murphy, Elissa; Vannier, Anne; Béna, Frédérique Sloan; Carminho-Rodrigues, Maria Teresa; Blouin, Jean-Louis; Cao Van, Hélène; Abramowicz, Marc; Paoloni-Giacobino, Ariane; Guipponi, Michel

Commercially Available Blocking Oligonucleotides Effectively Suppress Unwanted Hemolysis-Related miRNAs in a Large Whole-Blood RNA Cohort

市售阻断寡核苷酸可有效抑制大型全血RNA队列中与溶血相关的有害miRNA

LaBelle, Jenna; Bowser, Mark; Brown, Alison; Farnam, Leanna; Kho, Alvin; Li, Jiang; McGeachie, Michael; Chase, Robert; Piehl, Shannon; Allen, Kevin; Hobbs, Brian D; Weiss, Scott T; Hersh, Craig; Tantisira, Kelan; Amr, Sami S

COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis

COMPSRA:小型RNA测序数据分析的综合平台

Li, Jiang; Kho, Alvin T; Chase, Robert P; Pantano, Lorena; Farnam, Leanna; Amr, Sami S; Tantisira, Kelan G