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

A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023

一项独特的新生儿重症联合免疫缺陷筛查综合模式——安大略省单中心2013-2023年经验总结

期刊:Genes
影响因子:2.8
doi:10.3390/genes15070920
Al Ghamdi, Abdulrahman; Pachul, Jessica Willett; Al Shaqaq, Azhar; Fraser, Meghan; Watts-Dickens, Abby; Yang, Nicole; Vong, Linda; Kim, Vy H D; Siu, Victoria Mok; Pham-Huy, Anne; Brager, Rae; Reid, Brenda; Roifman, Chaim M
免疫/内分泌
发表日期：2024
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Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency

利用新一代测序技术阐明杂合FOXN1变异在免疫缺陷中的作用

期刊:Journal of Allergy and Clinical Immunology Global
影响因子:
doi:10.1016/j.jacig.2024.100267
Pasternak, Yehonatan; Vong, Linda; Merico, Daniele; Abrego Fuentes, Laura; Scott, Ori; Sham, Marina; Fraser, Meghan; Watts-Dickens, Abby; Willett Pachul, Jessica; Kim, Vy H D; Marshall, Christian R; Scherer, Stephen; Roifman, Chaim M
Sequencing
免疫/内分泌
发表日期：2024
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Case Report: Eosinophilic Esophagitis in a Patient With a Novel STAT1 Gain-of-Function Pathogenic Variant

病例报告：患有新型 STAT1 功能获得性致病变异的患者发生嗜酸性食管炎

期刊:Frontiers in Immunology
影响因子:5.7
doi:10.3389/fimmu.2022.801832
Ori Scott, Nigel Sharfe, Harjit Dadi, Linda Vong, Jenny Garkaby, Laura Abrego Fuentes, Jessica Willett Pachul, Sandra Nelles, Amit Nahum, Chaim M Roifman
信号转导
WB
发表日期：2022
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Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

全基因组测序发现的纯合重复导致LRBA缺陷

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-021-00263-z
Merico, Daniele; Pasternak, Yehonatan; Zarrei, Mehdi; Higginbotham, Edward J; Thiruvahindrapuram, Bhooma; Scott, Ori; Willett-Pachul, Jessica; Grunebaum, Eyal; Upton, Julia; Atkinson, Adelle; Kim, Vy H D; Aliyev, Elbay; Fakhro, Khalid; Scherer, Stephen W; Roifman, Chaim M
发表日期：2021
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