Toonsi相关文献与解析，生知库 | 链接生命科学的每一步

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients

将大型语言模型应用于罕见病患者致病基因的表型优先排序

Kafkas, Şenay; Abdelhakim, Marwa; Althagafi, Azza; Toonsi, Sumyyah; Alghamdi, Malak; Schofield, Paul N; Hoehndorf, Robert

发表日期：2025

文献求助收藏

CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)

CAGI6 ID 检测组挑战：对 415 名患有神经发育障碍 (NDD) 的儿童进行表型和变异预测评估

期刊:Human Genetics

影响因子:3.6

doi:10.1007/s00439-024-02722-w

Aspromonte, Maria Cristina; Del Conte, Alessio; Zhu, Shaowen; Tan, Wuwei; Shen, Yang; Zhang, Yexian; Li, Qi; Wang, Maggie Haitian; Babbi, Giulia; Bovo, Samuele; Martelli, Pier Luigi; Casadio, Rita; Althagafi, Azza; Toonsi, Sumyyah; Kulmanov, Maxat; Hoehndorf, Robert; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Xian, Su; Surento, Wesley; Pejaver, Vikas; Mooney, Sean D; Sunderam, Uma; Srinivasan, Rajgopal; Murgia, Alessandra; Piovesan, Damiano; Tosatto, Silvio C E; Leonardi, Emanuela

The effect of specialized management of acute coronary syndrome on patient's quality of life: A tertiary care centre study

急性冠脉综合征专科化管理对患者生活质量的影响：一项三级医疗中心研究

期刊:Saudi Medical Journal

影响因子:1.5

doi:10.15537/smj.2025.46.10.20250187

Jamjoom, Maan; Alharbi, Muath; Malibari, Waleed M; Alshehri, Waleed; Aalem, Mohammed A; Althubaity, Wafa D; Alalshaikh, Nouf K; Toonsi, Mahmoud A; Boker, Faisal A

发表日期：2025

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Public perceptions and practices on air quality and respiratory health: insights from a cross-sectional study in Saudi Arabia

沙特阿拉伯一项横断面研究揭示了公众对空气质量和呼吸健康的认知和行为

期刊:Journal of medicine and life

影响因子:

doi:10.25122/jml-2024-0385

Alanzi, Turki; Aljarbooa, Norah; AlSalem, Faris; Sawan, Rahaf; Albalawi, Bushra; Ababtain, Gumashah; Taha, Reema; Toonsi, Mirnan; Aloufi, Mohammed; Alsharifa, Husain; Alshangiti, Joud; Alanzi, Nouf

神经科学

发表日期：2025

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Transcriptomic and proteomic profiles of fetal versus adult mesenchymal stromal cells and mesenchymal stromal cell-derived extracellular vesicles

胎儿与成人间充质基质细胞以及间充质基质细胞衍生的细胞外囊泡的转录组学和蛋白质组学概况

期刊:Stem Cell Research

影响因子:7.1

doi:10.1186/s13287-024-03683-7

Emine Begüm Gençer, Yuk Kit Lor, Fawaz Abomaray, Samir El Andaloussi, Maria Pernemalm, Nidhi Sharma, Daniel W Hagey, André Görgens, Manuela O Gustafsson, Katarina Le Blanc, Mawaddah Asad Toonsi, Lilian Walther-Jallow, Cecilia Götherström

Causal relationships between diseases mined from the literature improve the use of polygenic risk scores

从文献中挖掘出的疾病之间的因果关系可以提高多基因风险评分的应用价值。

期刊:

影响因子:

doi:10.1093/bioinformatics/btae639

Toonsi, Sumyyah; Gauran, Iris Ivy; Ombao, Hernando; Schofield, Paul N; Hoehndorf, Robert

发表日期：2024

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CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)

CAGI6 ID挑战：对415名患有神经发育障碍（NDD）的儿童进行表型和变异预测评估

期刊:

影响因子:

doi:10.21203/rs.3.rs-3209168/v1

Aspromonte, Maria Cristina; Conte, Alessio Del; Zhu, Shaowen; Tan, Wuwei; Shen, Yang; Zhang, Yexian; Li, Qi; Wang, Maggie Haitian; Babbi, Giulia; Bovo, Samuele; Martelli, Pier Luigi; Casadio, Rita; Althagafi, Azza; Toonsi, Sumyyah; Kulmanov, Maxat; Hoehndorf, Robert; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Xian, Su; Surento, Wesley; Pejaver, Vikas; Mooney, Sean D; Sunderam, Uma; Srinivasan, Rajgopal; Murgia, Alessandra; Piovesan, Damiano; Tosatto, Silvio C E; Leonardi, Emanuela

Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights

家族性高胆固醇血症中的新型 LDLR 变异：基于 NGS 的鉴定、计算机表征和药物基因组学见解

期刊:Life-Basel

影响因子:

doi:10.3390/life13071542

Mohammad Athar, Mawaddah Toonsi, Zainularifeen Abduljaleel, Abdellatif Bouazzaoui, Neda M Bogari, Anas Dannoun, Faisal A Al-Allaf

信号转导

发表日期：2023

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A qualitative study to explore opinions of Saudi Arabian radiologists concerning AI-based applications and their impact on the future of the radiology

一项定性研究旨在探讨沙特阿拉伯放射科医生对人工智能应用及其对放射学未来影响的看法。

期刊:BJRopen

影响因子:2.1

doi:10.1259/bjro.20210029

Alsharif, Walaa; Qurashi, Abdulaziz; Toonsi, Fadi; Alanazi, Ali; Alhazmi, Fahad; Abdulaal, Osamah; Aldahery, Shrooq; Alshamrani, Khalid

发表日期：2022

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Causal knowledge graph analysis identifies adverse drug effects

因果知识图谱分析可识别药物不良反应

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients

将大型语言模型应用于罕见病患者致病基因的表型优先排序

CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs)

CAGI6 ID 检测组挑战：对 415 名患有神经发育障碍 (NDD) 的儿童进行表型和变异预测评估

The effect of specialized management of acute coronary syndrome on patient's quality of life: A tertiary care centre study

急性冠脉综合征专科化管理对患者生活质量的影响：一项三级医疗中心研究

Public perceptions and practices on air quality and respiratory health: insights from a cross-sectional study in Saudi Arabia

沙特阿拉伯一项横断面研究揭示了公众对空气质量和呼吸健康的认知和行为

Transcriptomic and proteomic profiles of fetal versus adult mesenchymal stromal cells and mesenchymal stromal cell-derived extracellular vesicles

胎儿与成人间充质基质细胞以及间充质基质细胞衍生的细胞外囊泡的转录组学和蛋白质组学概况

Causal relationships between diseases mined from the literature improve the use of polygenic risk scores

从文献中挖掘出的疾病之间的因果关系可以提高多基因风险评分的应用价值。

CAGI6 ID-Challenge: Assessment of phenotype and variant predictions in 415 children with Neurodevelopmental Disorders (NDDs)

CAGI6 ID挑战：对415名患有神经发育障碍（NDD）的儿童进行表型和变异预测评估

Novel LDLR Variant in Familial Hypercholesterolemia: NGS-Based Identification, In Silico Characterization, and Pharmacogenetic Insights

家族性高胆固醇血症中的新型 LDLR 变异：基于 NGS 的鉴定、计算机表征和药物基因组学见解

A qualitative study to explore opinions of Saudi Arabian radiologists concerning AI-based applications and their impact on the future of the radiology

一项定性研究旨在探讨沙特阿拉伯放射科医生对人工智能应用及其对放射学未来影响的看法。