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

Novel Recurrent Cytogenetic Abnormalities Predict Overall Survival in Tetraploid/Near-Tetraploid Myelodysplastic Syndrome and Acute Myeloid Leukemia

新型复发性细胞遗传学异常可预测四倍体/近四倍体骨髓增生异常综合征和急性髓系白血病患者的总生存期

Avenarius, Matthew R; Abrams, Zachary B; Guo, Ling; Blachly, James S; Miller, Cecelia R; Heerema, Nyla A; Tang, Guilin; Coombes, Kevin R; Abruzzo, Lynne V

Perivascular Epithelioid Cell Tumor of the Lung With a Novel YAP1::TFE3 Fusion

肺血管周围上皮样细胞肿瘤伴新型YAP1::TFE3融合

MacDonald, William; Avenarius, Matthew R; Aziz, Jenna; Guo, Aaron; D'Souza, Desmond M; Satturwar, Swati; Shilo, Konstantin

FGFR2-fusions define a clinically actionable molecular subset of pancreatic cancer

FGFR2融合基因定义了胰腺癌中具有临床意义的分子亚型。

Stein, Leah; Murugesan, Karthikeyan; Reeser, Julie W; Risch, Zachary; Wing, Michele R; Paruchuri, Anoosha; Samorodnitsky, Eric; Hoskins, Emily L; Dao, Thuy; Smith, Amy; Le, Dat; Babcook, Melissa A; Chang, Yi Seok; Avenarius, Matthew R; Imam, Muhammad; Freud, Aharon G; Roychowdhury, Sameek

Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing.

临床 SMN1 和 SMN2 基因特异性测序以提高脊髓性肌萎缩症诊断测试的临床敏感性

Miller Cecelia R, Fang Jin, Snyder Pamela, Long Susan E, Prior Thomas W, Jones Dan, Avenarius Matthew R

Grxcr2 is required for stereocilia morphogenesis in the cochlea.

Grxcr2 是耳蜗立体纤毛形态发生所必需的

Avenarius Matthew R, Jung Jae-Yun, Askew Charles, Jones Sherri M, Hunker Kristina L, Azaiez Hela, Rehman Atteeq U, Schraders Margit, Najmabadi Hossein, Kremer Hannie, Smith Richard J H, Géléoc Gwenaëlle S G, Dolan David F, Raphael Yehoash, Kohrman David C

Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma

基因组测序在一名患有低级别神经节胶质瘤的儿科患者中鉴定出体细胞BRAF重复c.1794_1796dupTAC;p.Thr599dup

Miller, Katherine E; Kelly, Benjamin; Fitch, James; Ross, Nicole; Avenarius, Matthew R; Varga, Elizabeth; Koboldt, Daniel C; Boué, Daniel R; Magrini, Vincent; Coven, Scott L; Finlay, Jonathan L; Cottrell, Catherine E; White, Peter; Gastier-Foster, Julie M; Wilson, Richard K; Leonard, Jeffrey; Mardis, Elaine R

Improved biolistic transfection of hair cells

改进的毛细胞生物弹道转染技术

Zhao, Hongyu; Avenarius, Matthew R; Gillespie, Peter G

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss

两个伊朗家庭携带GJB2基因的新突变,导致常染色体显性非综合征性听力损失

Bazazzadegan, Niloofar; Sheffield, Abraham M; Sobhani, Masoomeh; Kahrizi, Kimia; Meyer, Nicole C; Van Camp, Guy; Hilgert, Nele; Abedini, Seyedeh Sedigheh; Habibi, Farkhondeh; Daneshi, Ahmad; Nishimura, Carla; Avenarius, Matthew R; Farhadi, Mohammad; Smith, Richard J H; Najmabadi, Hossein

Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse

Grxcr1基因突变是旋转小鼠内耳功能障碍的根本原因。

Odeh, Hana; Hunker, Kristina L; Belyantseva, Inna A; Azaiez, Hela; Avenarius, Matthew R; Zheng, Lili; Peters, Linda M; Gagnon, Leona H; Hagiwara, Nobuko; Skynner, Michael J; Brilliant, Murray H; Allen, Nicholas D; Riazuddin, Saima; Johnson, Kenneth R; Raphael, Yehoash; Najmabadi, Hossein; Friedman, Thomas B; Bartles, James R; Smith, Richard J H; Kohrman, David C

Genetic male infertility and mutation of CATSPER ion channels

男性遗传性不育症和CATSPER离子通道突变

Hildebrand, Michael S; Avenarius, Matthew R; Fellous, Marc; Zhang, Yuzhou; Meyer, Nicole C; Auer, Jana; Serres, Catherine; Kahrizi, Kimia; Najmabadi, Hossein; Beckmann, Jacques S; Smith, Richard J H