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

Prospective Genomic Profiling of Consecutive Meningiomas

连续性脑膜瘤的前瞻性基因组分析

Nguyen, Minh P; Mirchia, Kanish; Braman, Brooke C; Morshed, Ramin A; Oberheim-Bush, Nancy Ann; Arum, Zora; Villanueva-Meyer, Javier E; Chen, William C; Van Ziffle, Jessica; Rajkovic, Aleksandar; Chang, Susan M; Devine, Walter Patrick; Perry, Arie; Raleigh, David R

Genetic diseases underlying a spectrum of fetal effusions

导致一系列胎儿积液的遗传性疾病

Gulrajani, Natalie B; Lianoglou, Billie R; Tick, Katie; Sahin-Hodoglugil, Nuriye N; Hodoglugil, Ugur; Devine, Patrick; Van Ziffle, Jessica; Norton, Mary E; Sparks, Teresa N

Clinical implementation of preemptive pharmacogenomics testing for personalized medicine at an academic medical center

在学术医疗中心开展针对个体化医疗的先发制人药物基因组学检测的临床应用

Tamraz, Bani; Shin, Jaekyu; Khanna, Raman; Van Ziffle, Jessica; Knowles, Susan; Stregowski, Susan; Wan, Eunice; Kamath, Rajesh; Collins, Christopher; Phunsur, Choeying; Tsai, Benjamin; Kong, Patsy; Calanoc, Clari; Pollard, Aleta; Sawhney, Rajeev; Pleiman, Jennifer; Devine, Walter Patrick; Croci, Rhiannon; Sashikanth, Aparna; Kroon, Lisa; Cucina, Russell; Rajkovic, Aleks

[Evaluation of Chlamydia muridarum and mixed bacteria-induced chronic salpingitis models and optimization of mixed bacterial dosage]

[对鼠衣原体和混合细菌引起的慢性输卵管炎模型进行评价,并优化混合细菌的剂量]

Penon-Portmann, Monica; Eldomery, Mohammad K; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E; Coban-Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R; Shieh, Joseph T; 何, 柳青; 文, 铃淼; 张, 璐; 张, 丽; 徐, 皓菲; 钱, 远鑫; 肖, 思涵; 丁, 维俊; 王, 依澜; 黄, 叶芳

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

DEGS1 中的一种新型剪接位点变异导致异常剪接和 DEGS1 酶活性丧失,这是一个已解决的 VUS

Beale Holly C, Tse Victor, Lee Joanna Y, Akutagawa Jon, Mavura Yusuph, Saint-John Brandon, Cheney Allison, Mulligan Dennis R, Chacaltana Guillermo, Gutierrez Martin, Tenney Jessica, Shieh Joseph T, Martin Pierre-Marie, Yip Tiffany, Hodoglugil Ugur, Fay Alex J, Brooks Angela N, Van Ziffle Jessica, Stone Michael D, Risch Neil, Sanford Jeremy R, Devine Patrick, Saba Julie D, Vaske Olena M, Slavotinek Anne

Genetic ancestry and diagnostic yield of exome sequencing in a diverse population

遗传祖源和外显子组测序在多样化人群中的诊断价值

Mavura, Yusuph; Sahin-Hodoglugil, Nuriye; Hodoglugil, Ugur; Kvale, Mark; Martin, Pierre-Marie; Van Ziffle, Jessica; Devine, W Patrick; Ackerman, Sara L; Koenig, Barbara A; Kwok, Pui-Yan; Norton, Mary E; Slavotinek, Anne; Risch, Neil

The antimicrobial potential of traditional remedies of Indigenous peoples from Canada against MRSA planktonic and biofilm bacteria in wound infection mimetic conditions

加拿大原住民传统疗法在模拟伤口感染条件下对耐甲氧西林金黄色葡萄球菌(MRSA)浮游菌和生物膜菌的抗菌潜力

Rieger, Colin D; Soliman, Ahmed M; Kaplia, Kateryna; Ghosh, Nilrup; Lopez, Alexa Cervantes; Venkatesan, Surya Arcot; Guevara Flores, Abraham Gildaro; Filiol Belin, Matheus Antônio; Allen, Florence; Reynolds, Margaret; McKenna, Betty; Lavallee, Harold; Weenie, Archie; Favel, Thomas; Gendron, Fidji; Ziffle, Vincent E; El-Halfawy, Omar M

Epithelioid Angiomyolipoma With Prominent Papillary Architecture Mimicking Renal Cell Carcinoma: A Case Report

具有显著乳头状结构的上皮样血管平滑肌脂肪瘤酷似肾细胞癌:病例报告

Xiao, Andrew; Van Ziffle, Jessica; Chan, Emily

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

临床分子遗传学和临床细胞遗传学培训的提供和整合所面临的挑战和机遇:LGG专科医师培训项目主任调查

Deignan, Joshua L; Aggarwal, Vimla; Bale, Allen E; Bellissimo, Daniel B; Booker, Jessica K; Cao, Yang; Crooks, Kristy R; Deak, Kristen L; Del Gaudio, Daniela; Funke, Birgit; Hoppman, Nicole L; Horner, Vanessa; Hufnagel, Robert B; Jackson-Cook, Colleen; Koduru, Prasad; Leung, Marco L; Li, Shibo; Liu, Pengfei; Luo, Minjie; Mao, Rong; Mason-Suares, Heather; Mikhail, Fady M; Moore, Stephen R; Naeem, Rizwan C; Pollard, Laura M; Repnikova, Elena A; Shao, Lina; Shaw, Brandon M; Shetty, Shashirekha; Smolarek, Teresa A; Spiteri, Elizabeth; Van Ziffle, Jessica; Vance, Gail H; Vnencak-Jones, Cindy L; Williams, Eli S

Novel SOX10 indel mutations drive schwannomas through impaired transactivation of myelination gene programs

新的 SOX10 插入/缺失突变通过髓鞘形成基因程序的转录激活受损导致神经鞘瘤

Erik A Williams, Ajay Ravindranathan, Rohit Gupta, Nicholas O Stevers, Abigail K Suwala, Chibo Hong, Somang Kim, Jimmy Bo Yuan, Jasper Wu, Jairo Barreto, Calixto-Hope G Lucas, Emily Chan, Melike Pekmezci, Philip E LeBoit, Thaddeus Mully, Arie Perry, Andrew Bollen, Jessica Van Ziffle, W Patrick Devin