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

Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia

下一代测序和其他二线检测方法在新生儿（X连锁）无丙种球蛋白血症筛查中的应用

期刊:Journal of Clinical Immunology
影响因子:5.7
doi:10.1007/s10875-025-01927-6
Blom, Maartje; Duintjer, Annelotte J; Pico-Knijnenburg, Ingrid; Imholz, Sandra; Balkassmi, Sahila; van Duyvenvoorde, Hermine A; van der Burg, Mirjam
发表日期：2025
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Comparing DNA Isolation and Preparation Protocols for Dried Blood Spots in the Context of Genomic Newborn Screening

比较基因组新生儿筛查中干血斑DNA分离和制备方案

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11030075
Duintjer, Annelotte J; Imholz, Sandra; Pico-Knijnenburg, Ingrid; Heuperman, Adinda; Hodemaekers, Hennie; Deutekom, Eva S; Voorhoeve, Els; Dollé, Martijn E T; van der Burg, Mirjam
发表日期：2025
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High protein intake causes gene-length-dependent transcriptional decline, shortens lifespan and accelerates ageing in progeroid DNA repair-deficient mice.

高蛋白摄入会导致基因长度依赖性转录下降，缩短寿命，并加速早衰症 DNA 修复缺陷小鼠的衰老

期刊:
影响因子:
doi:10.1038/s44324-025-00064-3
van Galen Ivar, Birkisdóttir Maria B, Ozinga Rutger A, Brandt Renata M C, Barnhoorn Sander, Imholz Sandra, van Oostrom Conny T, van der Marel Ricfrid W G N, Smit Kimberly, Rijksen Yvonne M A, Reiling Erwin, van Steeg Harry, Hoeijmakers Jan H J, Dollé Martijn E T, Vermeij Wilbert P
其它
细胞衰老
发表日期：2025
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The use of progeroid DNA repair-deficient mice for assessing anti-aging compounds, illustrating the benefits of nicotinamide riboside

利用早衰症DNA修复缺陷小鼠评估抗衰老化合物，阐明了烟酰胺核苷的益处。

期刊:Frontiers in Aging
影响因子:4.3
doi:10.3389/fragi.2022.1005322
Birkisdóttir, María B; van Galen, Ivar; Brandt, Renata M C; Barnhoorn, Sander; van Vliet, Nicole; van Dijk, Claire; Nagarajah, Bhawani; Imholz, Sandra; van Oostrom, Conny T; Reiling, Erwin; Gyenis, Ákos; Mastroberardino, Pier G; Jaarsma, Dick; van Steeg, Harry; Hoeijmakers, Jan H J; Dollé, Martijn E T; Vermeij, Wilbert P
衰老
发表日期：2022
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Corrigendum: The use of progeroid DNA repair-deficient mice for assessing anti-aging compounds, illustrating the benefits of nicotinamide riboside

更正：使用早衰症DNA修复缺陷小鼠评估抗衰老化合物，以说明烟酰胺核苷的益处

期刊:Frontiers in Aging
影响因子:4.3
doi:10.3389/fragi.2022.1086552
Birkisdóttir, María B; van Galen, Ivar; Brandt, Renata M C; Barnhoorn, Sander; van Vliet, Nicole; van Dijk, Claire; Nagarajah, Bhawani; Imholz, Sandra; van Oostrom, Conny T; Reiling, Erwin; Gyenis, Ákos; Mastroberardino, Pier G; Jaarsma, Dick; van Steeg, Harry; Hoeijmakers, Jan H J; Dollé, Martijn E T; Vermeij, Wilbert P
衰老
发表日期：2022
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Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency

二级检测旨在减少新生儿重症联合免疫缺陷筛查中无法采取行动的次要发现和假阳性转诊的数量

期刊:Journal of Clinical Immunology
影响因子:5.7
doi:10.1007/s10875-021-01107-2
Blom, Maartje; Pico-Knijnenburg, Ingrid; Imholz, Sandra; Vissers, Lotte; Schulze, Janika; Werner, Jeannette; Bredius, Robbert; van der Burg, Mirjam
免疫/内分泌
发表日期：2021
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Gender-specific genetic associations of polymorphisms in ACE, AKR1C2, FTO and MMP2 with weight gain over a 10-year period

ACE、AKR1C2、FTO 和 MMP2 多态性与 10 年内体重增加的性别特异性遗传关联

期刊:
影响因子:
doi:10.1007/s12263-014-0434-2
Bouwman, Freek G; Boer, Jolanda M A; Imholz, Sandra; Wang, Ping; Verschuren, W M Monique; Dollé, Martijn E T; Mariman, Edwin C M
多发性骨髓瘤
发表日期：2014
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Codon 72 polymorphism (rs1042522) of TP53 is associated with changes in diastolic blood pressure over time

TP53基因72号密码子多态性（rs1042522）与舒张压随时间的变化相关。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2011.240
Reiling, Erwin; Lyssenko, Valeriya; Boer, Jolanda M A; Imholz, Sandra; Verschuren, W Monique M; Isomaa, Bo; Tuomi, Tiinamaija; Groop, Leif; Dollé, Martijn E T
P53
发表日期：2012
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Gene expression profiling in a mouse model identifies fetal liver- and placenta-derived potential biomarkers for Down Syndrome screening

小鼠模型基因表达谱分析鉴定出胎肝和胎盘来源的潜在生物标志物，可用于唐氏综合征筛查

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0018866
Pennings, Jeroen L A; Rodenburg, Wendy; Imholz, Sandra; Koster, Maria P H; van Oostrom, Conny T M; Breit, Timo M; Schielen, Peter C J I; de Vries, Annemieke
发表日期：2011
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