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

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

BCAT1基因的双等位基因变异会损害线粒体功能，并与一种候选神经代谢疾病相关。

期刊:HGG Advances
影响因子:3.3
doi:10.1016/j.xhgg.2025.100525.
Brianna L DiSanza,Giulia S Porcari,Livia Sertori Finoti,Leonardo Ramos-Rodriguez,Devin M Burris,Justin A McDonough,Gang Ning,Grace Fagan,Guy T Helman,Erin Weiss,Ryan J Taft,Amy Pizzino,Matthew T Whitehead,Amy Waldman,Cas Simons,Xilma Ortiz-Gonzalez,William C Skarnes,Adeline Vanderver,Elizabeth J Bhoj,Rebecca C Ahrens-Nicklas
神经科学
代谢
BCAT1
线粒体
发表日期：2026
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Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind Spot

深内含子SVA_E插入被确定为与卡纳万病相关的最常见致病变异：诊断盲点

期刊:Neurology-Genetics
影响因子:3
doi:10.1212/NXG.0000000000200291.
Carlos A Dominguez Gonzalez ,Katrina M Bell ,Ramakrishnan Rajagopalan ,Michelle G de Silva ,Aída Lemes ,Cristina Zabala ,Florencia Pérez-Vidarte ,Alfredo Cerisola ,Arastoo Vossough ,Matthew T Whitehead ,Chloe Cunningham ,Natasha J Brown ,Rebecca Quin ,Cas Simons ,Thomas Conway ,Eloise Uebergang ,Rocio Rius ,Meutia A Kumaheri ,Emma R Kotes ,Ananya Vohra ,Miranda P G Zalusky ,Zachary B Anderson ,Sophie H R Storz ,Sydney A Ward ,Joy Goffena ,Jonas A Gustafson ,Susan M White ,Adeline Vanderver ,Danny E Miller
发表日期：2025
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Kagami Ogata syndrome: a small deletion refines critical region for imprinting

Kagami Ogata 综合征：一个小的缺失改进了印记的关键区域

期刊:npj Genomic Medicine
影响因子:4.7
doi:10.1038/s41525-023-00389-2
Gonench Kilich, Kelly Hassey, Edward M Behrens, Marni Falk, Adeline Vanderver, Daniel J Rader, Patrick J Cahill, Anna Raper, Zhe Zhang, Dawn Westerfer, Tanaya Jadhav, Laura Conlin, Kosuke Izumi, Ramakrishnan Rajagopalan #, Kathleen E Sullivan #; UDN Consortium
发表日期：2024
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Biochemical signatures of disease severity in multiple sulfatase deficiency

多种硫酸酯酶缺乏症疾病严重程度的生化特征

期刊:Journal of Inherited Metabolic Disease
影响因子:4.2
doi:10.1002/jimd.12688
Laura A Adang, Samar Mowafy, Zackary M Herbst, Zitao Zhou, Lars Schlotawa, Karthikeyan Radhakrishnan, Brenna Bentley, Vi Pham, Emily Yu, Nishitha R Pillai, Paul J Orchard, Mauricio De Castro, Adeline Vanderver, Marzia Pasquali, Michael H Gelb, Rebecca C Ahrens-Nicklas
His Tag
发表日期：2024
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Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1

从患有由ADAR1基因c.3019G>A (p.G1007R)常染色体显性致病变异引起的Aicardi-Goutières综合征的个体中生成了三株诱导多能干细胞系。

期刊:
影响因子:0.8
doi:PMC10836393
Luis Garcia，Carlos Dominguez Gonzalez，Alyssa Gagne，Jean Ann McGuire，Deborah French，Asako Takanohashi，Akshata Almad，Adeline Vanderver，Sunetra Sase
细胞生物学
发育与干细胞
干细胞
ADAR1
ADA
发表日期：2024
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Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1

从患有由ADAR1基因c.3019G>A (p.G1007R)常染色体显性致病变异引起的Aicardi-Goutières综合征的个体中生成了三株诱导多能干细胞系。

期刊:Stem Cell Research
影响因子:0.8
doi:10.1016/j.scr.2023.103299
Luis Garcia ，Carlos Dominguez Gonzalez ，Alyssa Gagne ，Jean Ann McGuire ，Deborah French ，Asako Takanohashi ，Akshata Almad ，Adeline Vanderver ，Sunetra Sase
细胞生物学
发育与干细胞
干细胞
ADAR1
ADA
发表日期：2024
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Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy

异染性白质营养不良症造血干细胞移植后的神经退行性疾病

期刊:Annals of Clinical and Translational Neurology
影响因子:4.4
doi:10.1002/acn3.51796
Murtadha Al-Saady, Shanice Beerepoot, Bonnie C Plug, Marjolein Breur, Hristina Galabova, Petra J W Pouwels, Jaap-Jan Boelens, Caroline Lindemans, Peter M van Hasselt, Ulrich Matzner, Adeline Vanderver, Marianna Bugiani, Marjo S van der Knaap, Nicole I Wolf
发育与干细胞
神经
干细胞
发表日期：2023
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Generation of three induced Pluripotent Stem Cell lines from individuals with Hypomyelination with Atrophy of Basal Ganglia and Cerebellum caused by a c.745G>A (p.D249N) autosomal dominant mutation in TUBB4A

从患有由 TUBB4A 中的 c.745G>A (p.D249N) 常染色体显性突变引起的基底神经节和小脑萎缩的髓鞘形成不足的个体中生成三种诱导性多能干细胞系

期刊:Stem Cell Research
影响因子:0.8
doi:10.1016/j.scr.2023.103083
Akshata A Almad, Luis Garcia, Asako Takanohashi, Alyssa Gagne, Wenli Yang, Jean Ann McGuire, Deborah French, Adeline Vanderver
发育与干细胞
神经
干细胞
发表日期：2023
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TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

TUBB4A 突变导致 H-ABC 脑白质营养不良小鼠模型中的神经胶质和神经元退化

期刊:Elife
影响因子:6.4
doi:10.7554/eLife.52986
Sunetra Sase #, Akshata A Almad #, C Alexander Boecker, Pedro Guedes-Dias, Jian J Li, Asako Takanohashi, Akshilkumar Patel, Tara McCaffrey, Heta Patel, Divya Sirdeshpande, Julian Curiel, Judy Shih-Hwa Liu, Quasar Padiath, Erika Lf Holzbaur, Steven S Scherer, Adeline Vanderver
神经
Mouse
发表日期：2020
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Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction

异染性脑白质营养不良和移植：髓鞘再生，无交叉矫正

期刊:Annals of Clinical and Translational Neurology
影响因子:4.4
doi:10.1002/acn3.50975
Nicole I Wolf, Marjolein Breur, Bonnie Plug, Shanice Beerepoot, Aimee S R Westerveld, Diane F van Rappard, Sharon I de Vries, Maarten H P Kole, Adeline Vanderver, Marjo S van der Knaap, Caroline A Lindemans, Peter M van Hasselt, Jaap J Boelens, Ulrich Matzner, Volkmar Gieselmann, Marianna Bugiani
信号转导
发表日期：2020
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