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

Insights Into Congenital Lymphatic Anomalies Underlying Fetal Effusions

深入了解胎儿积液背后的先天性淋巴异常

Vargo, Sara G; Rogerson, Daniella; Devine, Patrick; Van Ziffle, Jessica; Sparks, Teresa N

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

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

Loss of p16 expression is a sensitive marker of CDKN2A homozygous deletion in malignant meningiomas

p16表达缺失是恶性脑膜瘤中CDKN2A纯合缺失的敏感标志物

Tang, Vivian; Lu, Rufei; Mirchia, Kanish; Van Ziffle, Jessica; Devine, Patrick; Lee, Julieann; Phillips, Joanna J; Perry, Arie; Raleigh, David R; Lucas, Calixto-Hope G; Solomon, David A