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

Phase Determination and Demonstration of Parental Mosaicism of Intragenic PRKN Deletions Initially Identified by Chromosomal Microarray Analysis

通过染色体微阵列分析初步鉴定出的PRKN基因内缺失的相位确定和亲本嵌合现象的证实

Choate, Lauren A; Hoffman, Francis; Newman, Jessica H; Runke, Cassandra; Webley, Matthew; Hoppman, Nicole L; Thorland, Erik C

An Integrated Approach Including CRISPR/Cas9-Mediated Nanopore Sequencing, Mate Pair Sequencing, and Cytogenomic Methods to Characterize Complex Structural Rearrangements in Acute Myeloid Leukemia

结合 CRISPR/Cas9 介导的纳米孔测序、配对末端测序和细胞遗传学方法,对急性髓系白血病中复杂的结构重排进行表征的综合方法

Phan, Michael; Gomes, Maria A; Stinnett, Victoria; Morsberger, Laura; Hoppman, Nicole L; Pearce, Kathryn E; Smith, Kirstin; Phan, Brian; Jiang, Liqun; Zou, Ying S

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

涉及 PITX2 的复杂平衡染色体内重排被确定为 Axenfeld-Rieger 综合征的病因

Farris Joseph, Khanna Cheryl, Smadbeck James B, Johnson Sarah H, Bothun Erick, Kaplan Tyler, Hoffman Francis, Polonis Katarzyna, Oliver Gavin, Reis Linda M, Semina Elena V, Rust Laura, Hoppman Nicole L, Vasmatzis George, Marcou Cherisse A, Schimmenti Lisa A, Klee Eric W

False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up

细胞遗传学正常的XX个体中,间期FISH检测出现XXY假阳性结果:两例病例凸显了额外实验室随访的必要性

Ding, Qiliang; Bronson, Abigail L; Byerly, Kyna A; Essendrup, Anna A; Mitchell, Elyse B; Runke, Cassandra K; Rowsey, Ross A; Hoppman, Nicole L

Cytogenetic and pathologic characterization of MYC-rearranged B-cell lymphomas in pediatric and young adult patients

儿童和青少年患者MYC重排B细胞淋巴瘤的细胞遗传学和病理学特征

Gagnon, Marie-France; Bruehl, Frido K; Sill, Daniel R; Meyer, Reid G; Greipp, Patricia T; Hoppman, Nicole L; Xu, Xinjie; Baughn, Linda B; Peterson, Jess F; McPhail, Ellen D; Ketterling, Rhett P; King, Rebecca L

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

Prospective evaluation of genome sequencing to compare conventional cytogenetics in acute myeloid leukemia

前瞻性评估基因组测序与急性髓系白血病常规细胞遗传学的比较

Pitel, Beth A; Zepeda-Mendoza, Cinthya; Sachs, Zohar; Tang, Hongwei; Shivaram, Suganti; Sharma, Neeraj; Smadbeck, James B; Smoley, Stephanie A; Pearce, Kathryn E; Luoma, Ivy M; Cook, Joselle; Litzow, Mark R; Hoppman, Nicole L; Viswanatha, David; Xu, Xinjie; Ketterling, Rhett P; Greipp, Patricia T; Peterson, Jess F; Baughn, Linda B

A TRIP11:: FLT3 gene fusion in a patient with myeloid/lymphoid neoplasm with eosinophilia and tyrosine kinase gene fusions: a case report and review of the literature

一例伴有嗜酸性粒细胞增多和酪氨酸激酶基因融合的髓系/淋巴系肿瘤患者的TRIP11::FLT3基因融合:病例报告及文献复习

Venable, Elise R; Gagnon, Marie-France; Pitel, Beth A; Palmer, Jeanne M; Peterson, Jess F; Baughn, Linda B; Hoppman, Nicole L; Greipp, Patricia T; Ketterling, Rhett P; Patnaik, Mrinal S; Kelemen, Katalin; Xu, Xinjie

Comparative study of therapy-related and de novo adult b-cell acute lymphoblastic leukaemia

治疗相关性和原发性成人B细胞急性淋巴细胞白血病的比较研究

Abdel Rahman, Zaid H; Parrondo, Ricardo D; Heckman, Michael G; Wieczorek, Mikolaj; Miller, Kevin C; Alkhateeb, Hassan; Sproat, Lisa Z; Murthy, Hemant; Hogan, William J; Kharfan-Dabaja, Mohamed A; Peterson, Jess F; Baughn, Linda B; Hoppman, Nicole; Litzow, Mark R; Ketterling, Rhett P; Greipp, Patricia T; Foran, James M

Myeloid malignancies with 5q and 7q deletions are associated with extreme genomic complexity, biallelic TP53 variants, and very poor prognosis

伴有 5q 和 7q 缺失的髓系恶性肿瘤与极高的基因组复杂性、双等位基因 TP53 变异以及极差的预后相关。

Pitel, Beth A; Sharma, Neeraj; Zepeda-Mendoza, Cinthya; Smadbeck, James B; Pearce, Kathryn E; Cook, Joselle M; Vasmatzis, George; Sachs, Zohar; Kanagal-Shamanna, Rashmi; Viswanatha, David; Xiao, Sheng; Jenkins, Robert B; Xu, Xinjie; Hoppman, Nicole L; Ketterling, Rhett P; Peterson, Jess F; Greipp, Patricia T; Baughn, Linda B