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

Delayed tension pneumocephalus and pneumorrhacis after routine cervical spine surgery treated successfully without burr holes

常规颈椎手术后发生的迟发性张力性气颅和气漏,无需钻孔即可成功治疗。

Lim, Y; Dahapute, A; Clarke, A; Hutton, M; Selbi, W

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

多基因检测和基因组检测中报告的意义未明变异(VUS)现状:是时候改变了

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle; Saunders, Carol J; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J; Thiffault, Isabelle; Thomas, Brittany C; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J; Towne, Meghan C; Zouk, Hana

Getting it right first time: national survey of surgical site infection 2019

一次性做好:2019 年全国手术部位感染调查

Gatfield, S A; Atkinson, K V; Fountain, D; Machin, J T; Navaratnam, A V; Hutton, M; Briggs, Twr

Alström syndrome caused by maternal uniparental disomy

由母系单亲二体引起的阿尔斯特罗姆综合征

Lopour, Madeline Q R; Schimmenti, Lisa A; Boczek, Nicole J; Kearney, Hutton M; Drack, Arlene V; Brodsky, Michael C

Best practices for the interpretation and reporting of clinical whole genome sequencing

临床全基因组测序结果解读和报告的最佳实践

Austin-Tse, Christina A; Jobanputra, Vaidehi; Perry, Denise L; Bick, David; Taft, Ryan J; Venner, Eric; Gibbs, Richard A; Young, Ted; Barnett, Sarah; Belmont, John W; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna A; Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David R; Rehman, Atteeq U; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton M; Rehm, Heidi L

Lymphoid blast transformation in an MPN with BCR-JAK2 treated with ruxolitinib: putative mechanisms of resistance

在接受鲁索替尼治疗的 BCR-JAK2 阳性骨髓增生性肿瘤中,淋巴母细胞转化:可能的耐药机制

Chen, Justin Anthony; Hou, Yanli; Roskin, Krishna M; Arber, Daniel A; Bangs, Charles D; Baughn, Linda B; Cherry, Athena M; Ewalt, Mark D; Fire, Andrew Z; Fresard, Laure; Kearney, Hutton M; Montgomery, Stephen B; Ohgami, Robert S; Pearce, Kathryn E; Pitel, Beth A; Merker, Jason D; Gotlib, Jason

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

医学基因组计划:将全基因组测序应用于罕见病诊断的临床应用

Marshall, Christian R; Bick, David; Belmont, John W; Taylor, Stacie L; Ashley, Euan; Dimmock, David; Jobanputra, Vaidehi; Kearney, Hutton M; Kulkarni, Shashikant; Rehm, Heidi

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

针对生殖系疾病诊断的临床全基因组测序分析验证的最佳实践

Marshall, Christian R; Chowdhury, Shimul; Taft, Ryan J; Lebo, Mathew S; Buchan, Jillian G; Harrison, Steven M; Rowsey, Ross; Klee, Eric W; Liu, Pengfei; Worthey, Elizabeth A; Jobanputra, Vaidehi; Dimmock, David; Kearney, Hutton M; Bick, David; Kulkarni, Shashikant; Taylor, Stacie L; Belmont, John W; Stavropoulos, Dimitri J; Lennon, Niall J

Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism

间质性 4q 缺失综合征(包括 NR3C2 基因缺失)可导致假性醛固酮增多症

Barone Pritchard, Amanda; Ritter, Alyssa; Kearney, Hutton M; Izumi, Kosuke

Mate pair sequencing outperforms fluorescence in situ hybridization in the genomic characterization of multiple myeloma

在多发性骨髓瘤的基因组表征方面,配对测序优于荧光原位杂交

James Smadbeck, Jess F Peterson, Kathryn E Pearce, Beth A Pitel, Andrea Lebron Figueroa, Michael Timm, Dragan Jevremovic, Min Shi, A Keith Stewart, Esteban Braggio, Daniel L Riggs, P Leif Bergsagel, George Vasmatzis, Hutton M Kearney, Nicole L Hoppman, Rhett P Ketterling, Shaji Kumar, S Vincent Rajk