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

The new frontier in assisted reproduction : Consumer Desire vs. Regulatory and Ethical Precaution in AI-assisted Polygenic Embryo Screening

辅助生殖领域的新前沿：人工智能辅助多基因胚胎筛查中的消费者需求与监管和伦理考量

期刊:EMBO Reports
影响因子:6.2
doi:10.1038/s44319-025-00668-2
Raz, Aviad; Halsband, Aurélie; Langner, Robert; Shkedi-Rafid, Shiri
发表日期：2026
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Should recipient parents have access to gamete donors' raw genomic data? Clinical, legal, and ethical considerations

受赠父母是否应该有权获取配子捐赠者的原始基因组数据？临床、法律和伦理方面的考量

期刊:Journal of Assisted Reproduction and Genetics
影响因子:
doi:10.1007/s10815-025-03666-4
Shkedi-Rafid, Shiri; Raz, Aviad; Sabatello, Maya; Prainsack, Barbara; Gilbar, Roy
发表日期：2025
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Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder

一种新的 RAB39B 突变导致患有发育障碍的男性出现帕金森症

期刊:Movement Disorders Clinical Practice
影响因子:2.7
doi:10.1002/mdc3.13953
Dayan, Roy; Shkedi Rafid, Shiri; Baker Erdman, Halen; Weill, Caroline; Shag, Avraham; Meiner, Vardiella; Arkadir, David
帕金森
发育与干细胞
神经科学
发表日期：2024
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Clinical and genetic characteristics of carriers of the TP53 c.541C > T, p.Arg181Cys pathogenic variant causing hereditary cancer in patients of Arab-Muslim descent

携带TP53 c.541C > T, p.Arg181Cys致病变异（导致阿拉伯-穆斯林血统患者罹患遗传性癌症）的患者的临床和遗传特征

期刊:Familial Cancer
影响因子:2
doi:10.1007/s10689-024-00391-2
Arnon, Johnathan; Zick, Aviad; Maoz, Myriam; Salaymeh, Nada; Gugenheim, Ahinoam; Marouani, MazalTov; Mor, Eden; Hamburger, Tamar; Saadi, Nagam; Elia, Anna; Ganz, Gael; Fahham, Duha; Meirovitz, Amichay; Kadouri, Luna; Meiner, Vardiella; Yablonski-Peretz, Tamar; Shkedi-Rafid, Shiri
肿瘤
P53
肿瘤免疫
发表日期：2024
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The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort

针对以色列人群的创始人致病变异靶向检测的诊断率和意义

期刊:Cancers
影响因子:4.4
doi:10.3390/cancers16010094
Abu Shtaya, Aasem; Kedar, Inbal; Mattar, Samar; Mahamid, Ahmad; Basel-Salmon, Lina; Farage Barhom, Sarit; Naftaly Nathan, Sofia; Magal, Nurit; Azulay, Noy; Levy Zalcberg, Michal; Chen-Shtoyerman, Rakefet; Segol, Ori; Seri, Mor; Reznick Levi, Gili; Shkedi-Rafid, Shiri; Vinkler, Chana; Netzer, Iris; Hagari Bechar, Ofir; Chamma, Liat; Liberman, Sari; Goldberg, Yael
发表日期：2023
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Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients

以色列医疗保健专业人员对向患者传达意义不明的基因变异的看法

期刊:Journal of Genetic Counseling
影响因子:1.9
doi:10.1002/jgc4.1560
Levin Fridman, Alma; Raz, Aviad; Timmermans, Stefan; Shkedi-Rafid, Shiri
发表日期：2022
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Cancer patients' understandings of genetic variants of uncertain significance in clinical care

癌症患者对临床护理中意义不明的基因变异的理解

期刊:Journal of Community Genetics
影响因子:1.8
doi:10.1007/s12687-022-00594-z
Amano, Yael; Raz, Aviad; Timmermans, Stefan; Shkedi-Rafid, Shiri
肿瘤
肿瘤免疫
发表日期：2022
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What is the meaning of a 'genomic result' in the context of pregnancy?

在怀孕的背景下，“基因组检测结果”意味着什么？

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-00722-8
Shkedi-Rafid, Shiri; Horton, Rachel; Lucassen, Anneke
发表日期：2021
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Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of Wolframin

Wolfram 综合征的轻型表型与一种常见的致病变异相关，可通过 Wolfram 蛋白的结构模型进行预测。

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000000578
Wilf-Yarkoni, Adi; Shor, Oded; Fellner, Avi; Hellmann, Mark Andrew; Pras, Elon; Yonath, Hagit; Shkedi-Rafid, Shiri; Basel-Salmon, Lina; Bazak, Lili; Eliahou, Ruth; Greenbaum, Lior; Stiebel-Kalish, Hadas; Benninger, Felix; Goldberg, Yael
发表日期：2021
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The Global State of the Genetic Counseling Profession

全球遗传咨询行业现状

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-018-0252-x
Abacan, MaryAnn; Alsubaie, Lamia; Barlow-Stewart, Kristine; Caanen, Beppy; Cordier, Christophe; Courtney, Eliza; Davoine, Emeline; Edwards, Janice; Elackatt, Niby J; Gardiner, Kate; Guan, Yue; Huang, Lian-Hua; Malmgren, Charlotta Ingvoldstad; Kejriwal, Sahil; Kim, Hyon J; Lambert, Deborah; Lantigua-Cruz, Paulina Araceli; Lee, Juliana M H; Lodahl, Marianne; Lunde, Åshild; Macaulay, Shelley; Macciocca, Ivan; Margarit, Sonia; Middleton, Anna; Moldovan, Ramona; Ngeow, Joanne; Obregon-Tito, Alexandra J; Ormond, Kelly E; Paneque, Milena; Powell, Karen; Sanghavi, Kunal; Scotcher, Diana; Scott, Jenna; Juhé, Clara Serra; Shkedi-Rafid, Shiri; Wessels, Tina-Marié; Yoon, Sook-Yee; Wicklund, Catherine
发表日期：2019
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