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

TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome

TMC6/8相关疣状表皮发育不良：种系变异和皮肤癌易感综合征中的复杂结构改变

期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-026-02043-8.
Ceren Damla Durmaz #,Naz Güleray Lafcı #,Dilsu Dicle Erkan,Ömer Çağrı Akçin,Nesibe Bulut,Fatih Kuş,Deniz Ateş Özdemir,Jürgen Neesen,Paul Dremsek,Ömer Dizdar
皮肤癌
发育与干细胞
肿瘤
发表日期：2026
文献求助 收藏

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

OMKar利用光学图谱自动进行基因组核型分析，以识别先天性异常。

期刊:Genome Research
影响因子:5.5
doi:10.1101/gr.280536.125
Raeisi Dehkordi, Siavash; Jia, Zhaoyang; Estabrook, Joey; Hauenstein, Jen; Miller, Neil; Güleray-Lafci, Naz; Neesen, Jürgen; Hastie, Alex; Chaubey, Alka; Wing Chun Pang, Andy; Dremsek, Paul; Bafna, Vineet
发表日期：2025
文献求助 收藏

In Preclinical Epilepsy, GLUT1 and GFAP Dysregulation in Cells Surrounding the Third Ventricle, Including Tanycytes, Is Differentially Restored with Ketogenic Diet Treatment

在临床前癫痫中，生酮饮食治疗可差异性地恢复第三脑室周围细胞（包括室管膜细胞）中的 GLUT1 和 GFAP 失调。

期刊:Nutrients
影响因子:5
doi:10.3390/nu17111824
Rafiei, Parisa; Mian, Huda S; Iyer, Shruthi H; Draves, Samantha B; Matthews, Stephanie A; Rendon, Daniel E; Neesen, Emma J; Dunlay, Madeline; Revis, McKenna; Glisan, Adrianna L; Simeone, Timothy A; Simeone, Kristina A
癫痫
神经科学
FAP
细胞生物学
GFAP
发表日期：2025
文献求助 收藏

Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics

光学基因组图谱作为遗传诊断后续方法的实用性回顾性研究

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2024-110265
Dremsek, Paul; Schachner, Anna; Reischer, Theresa; Krampl-Bettelheim, Elisabeth; Bettelheim, Dieter; Vrabel, Sybille; Delissen, Zoja; Pfeifer, Mateja; Weil, Beatrix; Bajtela, Robert; Hengstschläger, Markus; Laccone, Franco; Neesen, Jürgen
发表日期：2025
文献求助 收藏

OMKar: optical map based automated karyotyping of genomes to identify constitutional abnormalities

OMKar：基于光学图谱的基因组自动核型分析，用于识别先天性异常

期刊:
影响因子:
doi:10.1101/2025.02.13.25322211
Dehkordi, Siavash Raeisi; Jia, Zhaoyang; Estabrook, Joey; Hauenstein, Jen; Miller, Neil; Güleray-Lafci, Naz; Neesen, Jürgen; Hastie, Alex; Chaubey, Alka; Pang, Andy Wing Chun; Dremsek, Paul; Bafna, Vineet
发表日期：2025
文献求助 收藏

Late stage melanoma is hallmarked by low NLGN4X expression leading to HIF1A accumulation

晚期黑色素瘤的特点是 NLGN4X 表达低，导致 HIF1A 积累

期刊:British Journal of Cancer
影响因子:6.4
doi:10.1038/s41416-024-02758-9
David Schörghofer #, Laurenz Vock #, Madalina A Mirea, Oliver Eckel, Anna Gschwendtner, Jürgen Neesen, Erika Richtig, Markus Hengstschläger, Mario Mikula
肿瘤
黑色素瘤
发表日期：2024
文献求助 收藏

Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing

利用快速纳米孔测序技术检测混合极体中的非整倍体

期刊:Journal of Assisted Reproduction and Genetics
影响因子:3.2
doi:10.1007/s10815-024-03108-7
Silvia Madritsch #,Vivienne Arnold #,Martha Haider,Julia Bosenge,Mateja Pfeifer,Beatrix Weil,Manuela Zechmeister,Markus Hengstschläger,Jürgen Neesen,Franco Laccone
Sequencing
发表日期：2024
文献求助 收藏

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria

奥地利显性非综合征型听力损失患者的突变谱

期刊:European Archives of Oto-Rhino-Laryngology
影响因子:2.2
doi:10.1007/s00405-024-08492-5
Frohne, Alexandra; Vrabel, Sybille; Laccone, Franco; Neesen, Juergen; Roesch, Sebastian; Dossena, Silvia; Schoefer, Christian; Frei, Klemens; Parzefall, Thomas
发表日期：2024
文献求助 收藏

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

在以感音神经性听力损失为主要表现的患者中，AP3D1基因纯合错义变异是一种常见现象。

期刊:Human Genetics
影响因子:3.6
doi:10.1007/s00439-022-02506-0
Frohne, Alexandra; Koenighofer, Martin; Cetin, Hakan; Nieratschker, Michael; Liu, David T; Laccone, Franco; Neesen, Juergen; Nemec, Stefan F; Schwarz-Nemec, Ursula; Schoefer, Christian; Avraham, Karen B; Frei, Klemens; Grabmeier-Pfistershammer, Katharina; Kratzer, Bernhard; Schmetterer, Klaus; Pickl, Winfried F; Parzefall, Thomas
3D/类器官
发表日期：2023
文献求助 收藏

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations

对90例超声异常胎儿进行单例外显子组测序，揭示新的致病变异和基因型-表型相关性

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-021-01012-7
Smogavec, Mateja; Gerykova Bujalkova, Maria; Lehner, Reinhard; Neesen, Jürgen; Behunova, Jana; Yerlikaya-Schatten, Gülen; Reischer, Theresa; Altmann, Reinhard; Weis, Denisa; Duba, Hans-Christoph; Laccone, Franco
发表日期：2022
文献求助 收藏