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

Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature

三体8嵌合体及相关复合表型的伴随染色体和分子畸变:三例报告及文献综述

Abdelhamed, Zakia; Dykas, Daniel; DiAdamo, Autumn; Chai, Hongyan; Ma, Deqiong; Spencer-Mazon, Michele; Jiang, Yong-Hui; Wen, Jiadi; Bale, Allen; Li, Peining; Zhang, Hui

Copy Number Variants of Uncertain Significance by Chromosome Microarray Analysis from Consecutive Pediatric Patients: Reevaluation Following Current Guidelines and Reanalysis by Genome Sequencing

连续儿科患者染色体微阵列分析中意义未明的拷贝数变异:根据现有指南进行重新评估和基因组测序重新分析

Li, Wenjiao; Xie, Xiaolei; Chai, Hongyan; DiAdamo, Autumn; Bistline, Emily; Li, Peining; Dai, Yuan; Knight, James; Avni-Singer, Abraham Joseph; Burger, Joanne; Ment, Laura; Spencer-Manzon, Michele; Zhang, Hui; Wen, Jiadi

Patterns of Cytogenomic Findings from a Case Series of Recurrent Pregnancy Loss Provide Insight into the Extent of Genetic Defects Causing Miscarriages

一系列复发性流产病例的细胞遗传学发现模式揭示了导致流产的遗传缺陷的程度

DiAdamo, Autumn; Chai, Hongyan; Chong, Mei Ling; Wang, Guilin; Wen, Jiadi; Jiang, Yong-Hui; Li, Peining

Detection of cytogenomic abnormalities by OncoScan microarray assay for products of conception from formalin-fixed paraffin-embedded and fresh fetal tissues

利用OncoScan微阵列检测法检测福尔马林固定石蜡包埋和新鲜胎儿组织中的妊娠产物细胞基因组异常

Wen, Jiadi; Grommisch, Brittany; DiAdamo, Autumn; Chai, Hongyan; Ng, Sok Meng Evelyn; Hui, Pei; Bale, Allen; Mak, Winifred; Wang, Guilin; Li, Peining

Isolated trisomy 11 in patients with acute myeloid leukemia - is the prognosis not as grim as previously thought?

急性髓系白血病患者中孤立性 11 三体综合征——预后是否不像之前认为的那样糟糕?

Bewersdorf, Jan Philipp; Shallis, Rory M; Diadamo, Autumn; Gowda, Lohith; Podoltsev, Nikolai A; Siddon, Alexa; Zeidan, Amer M

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings

回顾性分析 10 年数据,评估当前产前和儿科环境中细胞基因组异常的诊断准确性和有效性

Hongyan Chai, Autumn DiAdamo, Brittany Grommisch, Fang Xu, Qinghua Zhou, Jiadi Wen, Maurice Mahoney, Allen Bale, James McGrath, Michele Spencer-Manzon, Peining Li, Hui Zhang

Analytical validation and chromosomal distribution of regions of homozygosity by oligonucleotide array comparative genomic hybridization from normal prenatal and postnatal case series

通过寡核苷酸芯片比较基因组杂交技术对正常产前和产后病例系列中纯合区域进行分析验证和染色体分布分析

Wen, Jiadi; Comerford, Kathleen; Xu, Zhiyong; Wu, Weiqing; Amato, Katherine; Grommisch, Brittany; DiAdamo, Autumn; Xu, Fang; Chai, Hongyan; Li, Peining

Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center

细胞遗传学异常侵入性产前诊断适应症的变化及疗效:单中心13年经验

Meng, Jinlai; Matarese, Chelsea; Crivello, Julianna; Wilcox, Katherine; Wang, Dongmei; DiAdamo, Autumn; Xu, Fang; Li, Peining

Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia

基于证据的基因组诊断对30例老年骨髓增生异常综合征和急性髓系白血病患者的染色体和隐匿性不平衡进行了表征。

Bajaj, Renu; Xu, Fang; Xiang, Bixia; Wilcox, Katherine; Diadamo, Autumn J; Kumar, Rachana; Pietraszkiewicz, Alexandra; Halene, Stephanie; Li, Peining