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

Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up

FAM111B相关皮肤异色症及表型谱扩展中的泛素-蛋白酶体系统失调：新病例报告和长期随访

期刊:EBioMedicine
影响因子:9.7
doi:10.1016/j.ebiom.2025.105864
Virginie Vignard,Mike Maillasson,Anne Bigot,Sébastien Küry,Thomas Besnard,Martin Broly,Aurélie Guého,Emmanuelle Com,Erica Davis,Wallid Deb,Laëtitia Florenceau,Karen Sobriel,Grégoire Ménard,Betty Gardie,Alice Goldenberg,Joseph Porrmann,Randal Richardson,Léa Ruffier,Smail Hadj-Rabia,Stéphane Bézieau,Sébastien Barbarot,Frédéric Ebstein,Sandra Mercier
表观遗传
发表日期：2025
文献求助 收藏

Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

长读长基因组和RNA测序解析了APC基因中致病性内含子生殖系LINE-1插入突变。

期刊:npj Genomic Medicine
影响因子:4.7
doi:10.1038/s41525-025-00485-5
Alexandra A Baumann # ,Lisanne I Knol # ,Marie Arlt ,Tim Hutschenreiter ,Anja Richter ,Thomas J Widmann ,Marcus Franke ,Karl Hackmann ,Sylke Winkler ,Daniela Richter ,Isabel Spier ,Stefan Aretz ,Daniela Aust ,Joseph Porrmann ,Doreen William ,Evelin Schröck ,Hanno Glimm ,Arne Jahn
APC
发表日期：2025
文献求助 收藏

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

扩大 FINCA 综合征的表型和分子谱：15 名新个体中的双等位基因 NHLRC2 变异

期刊:European Journal of Human Genetics
影响因子:3.7
doi:10.1038/s41431-023-01382-0
Henrike L Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B Balci, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen
FINC
发表日期：2023
文献求助 收藏

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

CCND2 近端变异与小头畸形、身材矮小和发育迟缓相关：病例系列和逆脑生长表型的回顾

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62362
Filomena Pirozzi, Benson Lee, Nicole Horsley, Deepika D Burkardt, William B Dobyns, John M Graham Jr, Maria L Dentici, Claudia Cesario, Jens Schallner, Joseph Porrmann, Nataliya Di Donato, Pedro A Sanchez-Lara, Ghayda M Mirzaa
信号转导
发表日期：2021
文献求助 收藏