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

Optical Genome Mapping: A New Tool for Cytogenomic Analysis

光学基因组图谱绘制:细胞遗传学分析的新工具

Levy, Brynn; Burnside, Rachel D; Akkari, Yassmine

Claudin 18 immunohistochemistry in cholangiocarcinoma

胆管癌中 Claudin 18 免疫组化

Desai, Niyati; Ko, Huaibin M; Lee, Michael; Fazlollahi, Ladan; Moy, Ryan H; Yoon, Sam S; Remotti, Helen; Levy, Brynn; Turk, Andrew T; Lagana, Stephen M

Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study

胎儿基因组拷贝数变异对儿童期结局的影响:产前微阵列队列研究

McCoy, Jacqui; Pynaker, Cecilia; Lewis, Sharon; Amor, David J; Norris, Fiona; Gugasyan, Lucy; McGillivray, George; Fawcett, Susan; Regan, Matthew; Said, Joanne M; Begg, Lisa; Frawley, Natasha; Yuen, Nicola; Wapner, Ron; Levy, Brynn; Walker, Susan P; Halliday, Jane; Hui, Lisa

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)

光学基因组图谱揭示儿童多系统炎症综合征 (MIS-C) 中的罕见结构变异

Brownstein, Catherine A; van der Made, Caspar I; Cabral, Kristin; Rockowitz, Shira; Kang, Donghun; Schieck, Maximilian; Pang, Andy Wing Chun; Robinson, Jeffrey M; Hastie, Alex R; Chaubey, Alka; Hoischen, Alexander; Beggs, Alan H; Adebamowo, Clement A; Andalibi, Ali; Bacanu, Silviu-Alin; Bafna, Vineet; Bahl, Justin; Barseghyan, Hayk; Beggs, Alan; Burdette, Laurie; Butte, Manish; Constantoulakis, Pantelis; Crandall, Keith A; Dehkordi, Siavash R; Dennis, Megan; Fang, Gang; Fedrigo, Olivier; Finlay, Darren; Goldman, Michael A; Gurusamy, Umamaheswaran; Hayes, Vanessa; Hickey, Glenn; Hoischen, Alexander; Illig, Thomas; Ioannidis, Alexander; Jarvis, Erich; Koizumi, Naoru; Kolhe, Ravindra; Laamarti, Meriem; Labranche, Celia; Leibel, Sandra; Levy, Brynn; Loose, Matthew; Mello, Claudio; Nasir, Jamal; Phung, Thuy L; Rao, Chethan P Venkatasubba; Ross, Ted; Sahajpal, Nikhil S; Shamanna, Rashmi K; Soto, Daniela C; Trablesi, Amir; Wang, Zi-Xuan; Williams, Sion Llewelyn; Wright, Victoria; Zhao, Hua; Zody, Michael

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

染色质构象捕获技术在临床中的应用:4C-seq/HiC 可区分 GPR101 位点的致病性重复和中性重复

Daly, Adrian F; Dunnington, Leslie A; Rodriguez-Buritica, David F; Spiegel, Erica; Brancati, Francesco; Mantovani, Giovanna; Rawal, Vandana M; Faucz, Fabio Rueda; Hijazi, Hadia; Caberg, Jean-Hubert; Nardone, Anna Maria; Bengala, Mario; Fortugno, Paola; Del Sindaco, Giulia; Ragonese, Marta; Gould, Helen; Cannavò, Salvatore; Pétrossians, Patrick; Lania, Andrea; Lupski, James R; Beckers, Albert; Stratakis, Constantine A; Levy, Brynn; Trivellin, Giampaolo; Franke, Martin

Conventional Cytogenetic Analysis of Solid Tumor Abnormalities: A 25-Year Review of Proficiency Test Results from the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee

实体瘤异常的常规细胞遗传学分析:美国病理学家学会/美国医学遗传学和基因组学学会细胞遗传学委员会25年能力验证结果回顾

Vanderscheldon, Rachel K; Sukov, William R; Gardner, Juli-Anne; Rehder, Catherine W; Levy, Brynn; Velagaleti, Gopalrao V; Toydemir, Reha M; Tang, Guilin; Boles, Brittany; Cao, Yang; Mixon, Christopher; Zou, Ying S; Astbury, Caroline; Tsuchiya, Karen D; Peterson, Jess F

Genomic Disorders in CKD across the Lifespan

慢性肾脏病患者终生基因组疾病

Verbitsky, Miguel; Krishnamurthy, Sarathbabu; Krithivasan, Priya; Hughes, Daniel; Khan, Atlas; Marasà, Maddalena; Vena, Natalie; Khosla, Pavan; Zhang, Junying; Lim, Tze Y; Glessner, Joseph T; Weng, Chunhua; Shang, Ning; Shen, Yufeng; Hripcsak, George; Hakonarson, Hakon; Ionita-Laza, Iuliana; Levy, Brynn; Kenny, Eimear E; Loos, Ruth J F; Kiryluk, Krzysztof; Sanna-Cherchi, Simone; Crosslin, David R; Furth, Susan; Warady, Bradley A; Igo, Robert P Jr; Iyengar, Sudha K; Wong, Craig S; Parsa, Afshin; Feldman, Harold I; Gharavi, Ali G

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

系统评价基因组测序在自闭症谱系障碍和胎儿结构异常诊断中的应用

Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L; Wang, Harold Z; Currall, Benjamin B; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E; Whelan, Christopher W; Hao, Stephanie P; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L; Zhao, Xuefang; Austin-Tse, Christina A; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S; Lucente, Diane; Gauthier, Laura D; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E; MacKenzie, Tippi C; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J; MacArthur, Daniel G; Hodge, Jennelle C; O'Donnell-Luria, Anne; Rehm, Heidi L; Vora, Neeta L; Levy, Brynn; Brand, Harrison; Wapner, Ronald J; Talkowski, Michael E

Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic

在临床中,将纳米孔测序作为一种实用的拷贝数变异确认工作流程

Greer, Stephanie U; Botello, Jacquelin; Hongo, Donna; Levy, Brynn; Shah, Premal; Rabinowitz, Matthew; Miller, Danny E; Im, Kate; Kumar, Akash

Optical genome mapping in acute myeloid leukemia: a multicenter evaluation

急性髓系白血病的光学基因组作图:一项多中心评估

Levy, Brynn; Baughn, Linda B; Akkari, Yassmine; Chartrand, Scott; LaBarge, Brandon; Claxton, David; Lennon, P Alan; Cujar, Claudia; Kolhe, Ravindra; Kroeger, Kate; Pitel, Beth; Sahajpal, Nikhil; Sathanoori, Malini; Vlad, George; Zhang, Lijun; Fang, Min; Kanagal-Shamanna, Rashmi; Broach, James R