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

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

RNA测序在罕见病队列中的临床应用及分子层面的见解

Stark, Jamie C; Pipko, Neta; Liang, Yijing; Szuto, Anna; Tsoi, Chung Ting; Dickson, Megan A; Yuki, Kyoko E; Hou, Huayun; Scholten, Sydney; Pulsifer, Kenzie; Acker, Meryl; Laver, Meredith; Murthy, Harsha; Moran, Olivia M; Bonnell, Emily; Liang, Nicole; Sidhu, Jashanpreet; Dupuis, Lucie; Seno, Mohammad M Ghahramani; Chard, Marisa; Jobling, Rebekah K; Cameron, Jessie; Chami, Rose; Inbar-Feigenberg, Michal; Wilson, Michael D; Chitayat, David A; Boycott, Kym M; Kyriakopoulou, Lianna; Mendoza-Londono, Roberto; Marshall, Christian R; Dowling, James J; Costain, Gregory; Deshwar, Ashish R

Mucin 16-Directed Therapy in Pediatric Sarcomas: Case Evidence of Ubamatamab Efficacy in Epithelioid Sarcoma and Its Implications for Other Sarcoma Subtypes.

针对儿童肉瘤的 Mucin 16 靶向治疗:Ubamatamab 在上皮样肉瘤中的疗效病例证据及其对其他肉瘤亚型的意义

Connolly Denise M, Revon-Rivière Gabriel, Chami Rose, Mills Denise, Coblentz Ailish C, Uldrick Thomas S, Knorr David A, Goncalves Priscila, Dobosz Michael, Jalal Sumreen, Cohen-Gogo Sarah, Morgenstern Daniel A

Novel ACTB::FER Promoter Swap Fusion Characterizes Rare Superficial Myoid/Myofibroblastic Tumors

新型ACTB::FER启动子交换融合是罕见浅表肌样/肌纤维母细胞肿瘤的特征

Blackburn, Patrick R; Eldomery, Mohammad K; Pastor Loyola, Victor; Shi, Zonggao; Arnoldo, Anthony; Malik, Faizan; Santiago, Teresa; Chami, Rose

Myointimal hyperplasia of the mesenteric veins mimicking inflammatory bowel disease in a 13-year-old patient

一名13岁患者出现肠系膜静脉肌内膜增生,临床表现酷似炎症性肠病。

Abuquteish, Dua; Chami, Rose; Chavhan, Govind B; Walters, Thomas; Siddiqui, Iram

Canadian Consensus for Biomarker Testing and Treatment of TRK Fusion Cancer in Pediatric Patients

加拿大关于儿童TRK融合基因癌症生物标志物检测和治疗的共识

Perreault, Sébastien; Chami, Rose; Deyell, Rebecca J; El Demellawy, Dina; Ellezam, Benjamin; Jabado, Nada; Morgenstern, Daniel A; Narendran, Aru; Sorensen, Poul H B; Wasserman, Jonathan D; Yip, Stephen

Pediatric fibromyxoid soft tissue tumor with PLAG1 fusion: A novel entity?

PLAG1融合的儿童纤维黏液样软组织肿瘤:一种新的疾病类型?

Chung, Catherine T; Antonescu, Cristina R; Dickson, Brendan C; Chami, Rose; Marrano, Paula; Fan, Rong; Shago, Mary; Hameed, Meera; Thorner, Paul S

A Toddler Presenting with Pulmonary Renal Syndrome

一名患有肺肾综合征的幼儿

Aeschlimann, Florence A; Yeung, Rae S M; Laxer, Ronald M; Hebert, Diane; Cooper, Ashley; Chami, Rose; Noone, Damien

From diarrhea to obesity in prohormone convertase 1/3 deficiency: age-dependent clinical, pathologic, and enteroendocrine characteristics

从腹泻到肥胖:前激素转化酶1/3缺乏症的年龄依赖性临床、病理和肠内分泌特征

Bandsma, Robert H J; Sokollik, Christiane; Chami, Rose; Cutz, Ernest; Brubaker, Patricia L; Hamilton, Jill K; Perlman, Kusiel; Zlotkin, Stanley; Sigalet, David L; Sherman, Philip M; Martin, Martin G; Avitzur, Yaron