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

Correction: Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services

更正：患有遗传疾病的青少年身份认同发展与适应：一项以定性研究为导向的混合方法研究，旨在制定优化临床遗传服务策略

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-04023-5
Wainstein, Tasha; Boelman, Cyrus; Ens, Connie; Gibson, William T; Gregory-Evans, Kevin; Kolawole, Olubayo U; Marshall, Sheila K; Selby, Kathryn; Austin, Jehannine; Elliott, Alison M
发表日期：2025
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Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services

患有遗传疾病的青少年身份认同发展与适应：一项以定性研究为导向的混合方法研究，旨在制定优化临床遗传服务策略

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03968-x
Wainstein, Tasha; Boelman, Cyrus; Ens, Connie; Gibson, William T; Gregory-Evans, Kevin; Kolawole, Olubayo U; Marshall, Sheila K; Selby, Kathryn; Austin, Jehannine; Elliott, Alison M
发表日期：2025
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The c.1744G > C, p.(Glu582Gln) missense variant in coding exon 14 of APC increases skipping of a natural occurring isoform and causes Familial Adenomatous Polyposis

APC基因第14号编码外显子中的c.1744G>C，p.(Glu582Gln)错义变异会增加天然存在的异构体的跳跃，并导致家族性腺瘤性息肉病。

期刊:Journal of Cancer Research and Clinical Oncology
影响因子:2.8
doi:10.1007/s00432-025-06357-w
Jelsig, Anne Marie; Boelman, Maria Bejerholm; Birkedal, Ulf; Hübertz, Jane; Al-Zehawi, Lana; Lautrup, Charlotte; Karstensen, John Gásdal; van Overeem Hansen, Thomas
APC
免疫/内分泌
发表日期：2025
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Putting control into parents' hands: Parent experiences with a genomic results e-booklet

将控制权交还给父母：父母使用基因组检测结果电子书的体验

期刊:Journal of Genetic Counseling
影响因子:1.9
doi:10.1002/jgc4.70095
Adam, Shelin; Gombas, Patricia; Demos, Michelle; Boelman, Cyrus; Connolly, Mary B; Lavelle, Kyrstin; Friedman, Jan M; Elliott, Alison M; Birch, Patricia
发表日期：2025
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The give and take of Arctic greening: differential responses of the carbon sink-to-source threshold to light and temperature in tussock tundra may be influenced by vegetation cover

北极绿化的权衡：苔原中碳汇到碳源阈值对光照和温度的不同响应可能受植被覆盖的影响

期刊:Communications Biology
影响因子:5.1
doi:10.1038/s42003-024-06600-z
Min, Elizabeth; Boelman, Natalie T; Gough, Laura; McLaren, Jennie R; Rastetter, Edward B; Rowe, Rebecca J; Rocha, Adrian; Turnbull, Matthew H; Griffin, Kevin L
发表日期：2024
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Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

MARK4 功能获得性变异与儿童神经发育障碍和畸形有关

期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2023.100259
Samra, Simran; Sharma, Mehul; Vaseghi-Shanjani, Maryam; Del Bel, Kate L; Byres, Loryn; Lin, Susan; Dalmann, Joshua; Salman, Areesha; Mwenifumbo, Jill; Modi, Bhavi P; Biggs, Catherine M; Boelman, Cyrus; Clarke, Lorne A; Lehman, Anna; Turvey, Stuart E
发育与干细胞
神经科学
发表日期：2024
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Expanding the genotype-phenotype spectrum in SCN8A-related disorders

扩展SCN8A相关疾病的基因型-表型谱

期刊:BMC Neurology
影响因子:2.2
doi:10.1186/s12883-023-03478-y
Hebbar, Malavika; Al-Taweel, Nawaf; Gill, Inderpal; Boelman, Cyrus; Dean, Richard A; Goodchild, Samuel J; Mezeyova, Janette; Shuart, Noah Gregory; Johnson, J P Jr; Lee, James; Michoulas, Aspasia; Huh, Linda L; Armstrong, Linlea; Connolly, Mary B; Demos, Michelle K
发表日期：2024
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Rhythmic high-amplitude delta with superimposed spikes (RHADS): a treatment dilemma

节律性高振幅δ波伴尖峰（RHADS）：治疗难题

期刊:Oxford Medical Case Reports
影响因子:0.4
doi:10.1093/omcr/omae114
Shukla, Vanita; Webb, Paul; AlMohaimeed, Bashayer; Lee, James; Boelman, Cyrus
发表日期：2024
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Vertical gradients in photosynthetic physiology diverge at the latitudinal range extremes of white spruce

白云杉光合作用生理的垂直梯度在纬度范围的两端出现差异

期刊:Plant Cell and Environment
影响因子:6.3
doi:10.1111/pce.14448
Schmiege, Stephanie C; Griffin, Kevin L; Boelman, Natalie T; Vierling, Lee A; Bruner, Sarah G; Min, Elizabeth; Maguire, Andrew J; Jensen, Johanna; Eitel, Jan U H
发表日期：2023
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Expanding the genotype-phenotype spectrum in SCN8A-related disorders

扩展SCN8A相关疾病的基因型-表型谱

期刊:
影响因子:
doi:10.21203/rs.3.rs-3221902/v1
Hebbar, Malavika; Al-Taweel, Nawaf; Gill, Inderpal; Boelman, Cyrus; Dean, Richard A; Goodchild, Samuel J; Mezeyova, Janette; Shuart, Noah Gregory; Johnson, J P; Lee, James; Michoulas, Aspasia; Huh, Linda L; Armstrong, Linlea; Connolly, Mary B; Demos, Michelle K
发表日期：2023
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