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

The Genetics of TDP-43 Type C Neurodegeneration: A Whole-Genome Sequencing Study and Literature Review

TDP-43 C型神经退行性疾病的遗传学:全基因组测序研究及文献综述

Nassan, Malik; Ayala, Ivan; Sloan, Jennifer; Bonfitto, Anna; Stark, Bobbi; Song, Serena; Naymik, Marcus; Geula, Changiz; Gefen, Tamar; Barbieri, Elena; Piras, Ignazio; Mesulam, M-Marsel; Huentelman, Matthew

Preliminary diagnostic criteria for distinguishing metaplastic Warthin tumors from mucoepidermoid carcinomas rich in lymphoid stroma

区分化生性沃辛瘤与富含淋巴基质的黏液表皮样癌的初步诊断标准

Bonfitto, João Felipe Leite; Scarini, João Figueira; Ferreira, Iara Vieira; de Lima-Souza, Reydson Alcides; Egal, Erika Said Abu; Altemani, Albina; Mariano, Fernanda Viviane

Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes

基因组和表观遗传检测在发育迟缓诊断评估中的整合:鉴别博耶森-福斯曼-莱曼综合征(BFLS)和怀特-克诺汉综合征(WHIKERS)

Ramsey, Keri; Prakash, Supraja; Kerkhof, Jennifer; Sadikovic, Bekim; White, Susan; Naymik, Marcus; Sloan, Jennifer; Bonfitto, Anna; Belnap, Newell; Sanchez-Castillo, Meredith; Jepsen, Wayne; Huentelman, Matthew; Bernes, Saunder; Narayanan, Vinodh; Kaur, Shagun

Expanded carrier screening for inherited genetic disease using exome and genome sequencing

利用外显子组和基因组测序扩大遗传性疾病携带者筛查范围

Belnap, N; Ramsey, K; Abraham, A; Ryan, A; Rangasamy, S; Bonfitto, A; Naymik, M; Huentelman, M; Strom, S; Perry, D; Subramaniam, A; Grody, W W; Szelinger, S; Narayanan, V

The genetics of TDP43-Type-C neurodegeneration: a whole genome sequencing study

TDP43-C型神经退行性疾病的遗传学:一项全基因组测序研究

Nassan, Malik; Ayala, Ivan Alejandro; Sloan, Jennifer; Bonfitto, Anna; Stark, Bobbi; Song, Serena; Naymik, Marcus; Geula, Changiz; Gefen, Tamar; Barbieri, Elena; Piras, Ignazio S; Mesulam, M-Marsel; Huentelman, Matt J

Transcriptomic profiling of the middle temporal gyrus reveals differential glial/neuronal dysregulation across Alzheimer's disease and aging

中颞回转录组分析揭示了阿尔茨海默病和衰老过程中神经胶质细胞/神经元功能失调的差异

Piras, I S; Bonfitto, A; Song, S; Aldabergenova, A; Sloan, J; Trejo, A; Troncoso, J C; Geula, C; Rogalski, E J; Kawas, C H; Corrada, M; Beach, T G; Serrano, G E; Worley, P F; Barnes, C A; Huentelman, M J

Transcriptomic and protein analysis of human cortex reveals genes and pathways linked to NPTX2 disruption in Alzheimer's disease

对人类大脑皮层的转录组和蛋白质组分析揭示了与阿尔茨海默病中NPTX2紊乱相关的基因和通路

Lao, Yuelin; Xiao, Mei-Fang; Ji, Shiyu; Piras, Ignazio S; Bonfitto, Anna; Song, Serena; Aldabergenova, Arailym; Na, Chan-Hyun; Sloan, Jennifer; Trejo, Adriel; Geula, Changiz; Rogalski, Emily J; Kawas, Claudia H; Corrada, Maria M; Serrano, Geidy E; Beach, Thomas G; Troncoso, Juan C; Huentelman, Matthew J; Barnes, Carol A; Worley, Paul F; Colantuoni, Carlo

An ontology-based knowledge graph for representing interactions involving RNA molecules

用于表示涉及RNA分子的相互作用的基于本体的知识图谱

Cavalleri, Emanuele; Cabri, Alberto; Soto-Gomez, Mauricio; Bonfitto, Sara; Perlasca, Paolo; Gliozzo, Jessica; Callahan, Tiffany J; Reese, Justin; Robinson, Peter N; Casiraghi, Elena; Valentini, Giorgio; Mesiti, Marco

The environmental impact of energy consumption and carbon emissions in radiology departments: a systematic review

放射科能源消耗和碳排放对环境的影响:系统性综述

Roletto, Andrea; Zanardo, Moreno; Bonfitto, Giuseppe Roberto; Catania, Diego; Sardanelli, Francesco; Zanoni, Simone

Association of Loneliness with Functional and Cognitive Status in Minor and Major Neurocognitive Disorders

孤独感与轻度及重度神经认知障碍患者的功能和认知状态之间的关联

Moretti, Maria Claudia; Bonfitto, Iris; Nieddu, Luciano; Leccisotti, Ivana; Dimalta, Savino; Moniello, Giovanni; Lozupone, Madia; Bellomo, Antonello; Panza, Francesco; Avolio, Carlo; Altamura, Mario