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

Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals

3972 例个体样本中全外显子组测序 (WES) 数据的医学可操作性次要发现

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26083509
Melo, Mafalda; Ribeiro, Mariana; Silva, Paulo Filipe; Valente, Susana; Alves, Filipe; Venâncio, Margarida; Sequeiros, Jorge; Freixo, João Parente; Antunes, Diana; Oliveira, Jorge
发表日期：2025
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Missense variant in TTBK2 kinase domain causes loss of function and impaired protein phosphorylation

TTBK2激酶结构域中的错义变异导致功能丧失和蛋白质磷酸化受损

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-32288-0
Felício, Daniela; Osório, Hugo; Pereira, Conceição; Brandão, Ana Filipa; Freixo, João Parente; Carvalho, Inês; Sousa, Ana Paula; Castro-Caldas, Margarida; Sequeiros, Jorge; Lemos, Carolina; Santos, Mariana
信号转导
磷酸化
发表日期：2025
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Deciphering Spastic Ataxia: Clinical and Genetic Profiles

解读痉挛性共济失调：临床和基因特征

期刊:Neurology-Genetics
影响因子:3.7
doi:10.1212/NXG.0000000000200331
Damásio, Joana; Santos, Mariana; Costa, Sara; Moura, João; Sardoeira, Ana; Lemos, Carolina; Oliveira, Jorge; Barros, José; Sequeiros, Jorge
发表日期：2025
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Movement Disorders in Hereditary Cerebellar Ataxia

遗传性小脑共济失调的运动障碍

期刊:Movement Disorders Clinical Practice
影响因子:2.7
doi:10.1002/mdc3.14358
Damásio, Joana; Costa, Sara; Moura, João; Santos, Mariana; Lemos, Carolina; Mendes, Alexandre; Oliveira, Jorge; Barros, José; Sequeiros, Jorge
神经科学
发表日期：2025
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Addressing family communication in genetic counseling: A scoping review of process studies

探讨遗传咨询中的家庭沟通问题：过程研究的范围界定综述

期刊:Journal of Genetic Counseling
影响因子:1.9
doi:10.1002/jgc4.70067
Barbosa, Maria; Paneque, Milena; Fontoura Dias, Sofia; Júlio, Filipa; Sequeiros, Jorge; Sousa, Liliana; Clarke, Angus; Metcalfe, Alison; Sales, Célia M D; Mendes, Álvaro
发表日期：2025
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From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal

从歧视到社会接纳度的提高？在葡萄牙亚速尔群岛圣米格尔岛，与马查多-约瑟夫病共存的生活

期刊:Journal of Community Genetics
影响因子:1.8
doi:10.1007/s12687-024-00731-w
Couto, Daniela; Sequeiros, Jorge; Lima, Manuela; Sousa, Liliana; Mendes, Álvaro
发表日期：2025
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Modification of Huntington's disease by short tandem repeats

短串联重复序列对亨廷顿病的影响

期刊:Brain Communications
影响因子:4.5
doi:10.1093/braincomms/fcae016
Hong, Eun Pyo; Ramos, Eliana Marisa; Aziz, N Ahmad; Massey, Thomas H; McAllister, Branduff; Lobanov, Sergey; Jones, Lesley; Holmans, Peter; Kwak, Seung; Orth, Michael; Ciosi, Marc; Lomeikaite, Vilija; Monckton, Darren G; Long, Jeffrey D; Lucente, Diane; Wheeler, Vanessa C; Gillis, Tammy; MacDonald, Marcy E; Sequeiros, Jorge; Gusella, James F; Lee, Jong-Min
发表日期：2024
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Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms

脊髓小脑性共济失调：多聚谷氨酰胺（PolyQ）扩增型与非重复扩增型的表型谱

期刊:Cerebellum
影响因子:2.4
doi:10.1007/s12311-024-01723-9
Moura, João; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lénia; Lemos, Carolina; Barros, José; Sequeiros, Jorge; Damásio, Joana
神经科学
发表日期：2024
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Health-related roles of older generations in families with inherited genetic conditions: a scoping review

老年群体在遗传性疾病家庭中的健康相关作用：一项范围界定综述

期刊:Journal of Community Genetics
影响因子:1.8
doi:10.1007/s12687-024-00713-y
Oliveira, Carla Roma; Seidi, Catarina; Sequeiros, Jorge; Sousa, Liliana; Mendes, Álvaro
发表日期：2024
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"Living with a question mark": psychosocial experience of Portuguese young adults at risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy

“生活在问号中”：葡萄牙患有遗传性转甲状腺素蛋白淀粉样变性伴多发性神经病风险的年轻人的心理社会经历

期刊:Journal of Community Genetics
影响因子:1.8
doi:10.1007/s12687-024-00717-8
Pereira, José D; Costa, Catarina; Santos, Andreia; Lemos, Marina S; Sequeiros, Jorge; Paneque, Milena; Mendes, Álvaro
免疫/内分泌
发表日期：2024
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