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

New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements

耳廓髁综合征 (ARCND) 的新致病基因位点：涉及 TWIST1 调控元件的 430 kb 重复序列

期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2021-107825
Vanessa Luiza Romanelli Tavares # ,Sofia Ligia Guimarães-Ramos # ,Yan Zhou ,Cibele Masotti ,Suzana Ezquina ,Danielle de Paula Moreira ,Henk Buermans ,Renato S Freitas ,Johan T Den Dunnen ,Stephen R F Twigg ,Maria Rita Passos-Bueno
信号转导
ARC
IST1
发表日期：2022
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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

对 FSHD1 中近端延伸的 D4Z4 缺失进行高分辨率断点连接定位，揭示了创始人效应的证据。

期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddab250.
Richard J L F Lemmers ,Patrick J van der Vliet ,David San Leon Granado ,Nienke van der Stoep ,Henk Buermans ,Robin van Schendel ,Joost Schimmel ,Marianne de Visser ,Rudy van Coster ,Marc Jeanpierre ,Pascal Laforet ,Meena Upadhyaya ,Baziel van Engelen ,Sabrina Sacconi ,Rabi Tawil ,Nicol C Voermans ,Mark Rogers ,Silvère M van der Maarel
FSH
发表日期：2022
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Breakpoint characterization of a rare alpha(0) -thalassemia deletion using targeted locus amplification on genomic DNA.

利用基因组 DNA 上的靶向基因座扩增对罕见的 α(0) 地中海贫血缺失进行断点表征

期刊:International Journal of Laboratory Hematology
影响因子:2.3
doi:10.1111/ijlh.13651
Hottentot Quint P, de Meijer Emile, Buermans Henk P J, White Stefan J, Harteveld Cornelis L
其它
发表日期：2021
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Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy

与年龄相关的唾液微RNA生物标志物在眼咽肌营养不良症中的应用

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms21176059
Raz, Vered; Kroon, Rosemarie H M J M; Mei, Hailiang; Riaz, Muhammad; Buermans, Henk; Lassche, Saskia; Horlings, Corinne; Swart, Bert De; Kalf, Johanna; Harish, Pradeep; Vissing, John; Kielbasa, Szymon; van Engelen, Baziel G M
发表日期：2020
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Diagnostics of short tandem repeat expansion variants using massively parallel sequencing and componential tools

利用大规模并行测序和组件工具诊断短串联重复序列扩增变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-018-0302-4
de Leeuw, Rick H; Garnier, Dominique; Kroon, Rosemarie M J M; Horlings, Corinne G C; de Meijer, Emile; Buermans, Henk; van Engelen, Baziel G M; de Knijff, Peter; Raz, Vered
发表日期：2019
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Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI

MRI检查结果正常的X连锁肾上腺脑白质营养不良男性成年患者总体认知功能完好。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-019-1184-4
Buermans, Noortje J M L; van den Bosch, Sharon J G; Huffnagel, Irene C; Steenweg, Marjan E; Engelen, Marc; Oostrom, Kim J; Geurtsen, Gert J
神经科学
免疫/内分泌
发表日期：2019
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Comprehensive multi-center assessment of small RNA-seq methods for quantitative miRNA profiling

对用于定量 miRNA 分析的小 RNA 测序方法进行全面的多中心评估

期刊:Nature Biotechnology
影响因子:41.7
doi:10.1038/nbt.4183
Giraldez, Maria D; Spengler, Ryan M; Etheridge, Alton; Godoy, Paula M; Barczak, Andrea J; Srinivasan, Srimeenakshi; De Hoff, Peter L; Tanriverdi, Kahraman; Courtright, Amanda; Lu, Shulin; Khoory, Joseph; Rubio, Renee; Baxter, David; Driedonks, Tom A P; Buermans, Henk P J; Nolte-'t Hoen, Esther N M; Jiang, Hui; Wang, Kai; Ghiran, Ionita; Wang, Yaoyu E; Van Keuren-Jensen, Kendall; Freedman, Jane E; Woodruff, Prescott G; Laurent, Louise C; Erle, David J; Galas, David J; Tewari, Muneesh
miRNA
发表日期：2018
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Immune stimuli shape the small non-coding transcriptome of extracellular vesicles released by dendritic cells

免疫刺激塑造树突状细胞释放的细胞外囊泡的小非编码转录组

期刊:Cellular and Molecular Life Sciences
影响因子:6.2
doi:10.1007/s00018-018-2842-8
Tom A P Driedonks, Susanne G van der Grein, Yavuz Ariyurek, Henk P J Buermans, Henrike Jekel, Franklin W N Chow, Marca H M Wauben, Amy H Buck, Peter A C 't Hoen, Esther N M Nolte-'t Hoen
免疫
树突状细胞
AROS
发表日期：2018
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Human Bone Marrow-Resident Natural Killer Cells Have a Unique Transcriptional Profile and Resemble Resident Memory CD8(+) T Cells

人类骨髓驻留自然杀伤细胞具有独特的转录谱，类似于驻留记忆CD8(+) T细胞

期刊:Frontiers in Immunology
影响因子:5.9
doi:10.3389/fimmu.2018.01829
Melsen, Janine E; Lugthart, Gertjan; Vervat, Carly; Kielbasa, Szymon M; van der Zeeuw, Sander A J; Buermans, Henk P J; van Ostaijen-Ten Dam, Monique M; Lankester, Arjan C; Schilham, Marco W
T细胞
CD8
Human
T细胞
自然杀伤细胞
细胞生物学
免疫/内分泌
发表日期：2018
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Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type

遗传性脑出血伴淀粉样变性-荷兰型的脑转录组分析

期刊:Frontiers in Aging Neuroscience
影响因子:4.1
doi:10.3389/fnagi.2018.00102
Laure Grand Moursel, Willeke M C van Roon-Mom, Szymon M Kiełbasa, Hailiang Mei, Henk P J Buermans, Linda M van der Graaf, Kristina M Hettne, Emile J de Meijer, Sjoerd G van Duinen, Jeroen F J Laros, Mark A van Buchem, Peter A C 't Hoen, Silvère M van der Maarel, Louise van der Weerd
信号转导
发表日期：2018
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