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

NIA Genetics of Alzheimer's Disease Data Storage Site (NIAGADS): 2025 Update

美国国家老龄研究所阿尔茨海默病遗传学数据存储中心(NIAGADS):2025 年更新

Buisine, Marie-Pierre; Bellanne-Chantelot, Christine; Calmels, Nadège; Vaché, Christel; Besnard, Thomas; Cogne, Benjamin; Vitobello, Antonio; Piton, Amélie; Martins, Alexandra; Gaildrat, Pascaline; Dhaenens, Claire-Marie; Gorokhova, Svetlana; Boutry-Kryza, Nadia; Caputo, Sandrine; Leman, Raphaël; Krieger, Sophie; Le Gac, Gérald; Houdayer, Claude; Bass, Lauren; Kuzma, Amanda; Valladares, Otto; Nicaretta, Heather; Gangadharan, Prabhakaran; Katanic, Zivadin; Kirsch, Maureen; Ren, Youli; Manuel, Joseph; Saravanan, Naveensri; Brettschneider, Jascha; Wilk, Andrew; Zhao, Yi; Qu, Liming; Moon, Michelle K; Rose, Alexis Lerro; Keskinen, Peter; Cifello, Jeffrey; Horng, Wenhwai; Tate, Sam; Robbins, Flawless; White, Heather; Carter, Luke; Chuang, Wei‐Hsuan; Jin, Yumi; Chou, Shin‐Yi; Naj, Adam C; Greenfest‐Allen, Emily; Kuksa, Pavel P; Leung, Yuk Yee; Lee, Wan‐Ping; Schellenberg, Gerald D; Wang, Li‐San

Predicting the impact of rare variants on RNA splicing in CAGI6

预测罕见变异对CAGI6中RNA剪接的影响

Lord, Jenny; Oquendo, Carolina Jaramillo; Wai, Htoo A; Douglas, Andrew G L; Bunyan, David J; Wang, Yaqiong; Hu, Zhiqiang; Zeng, Zishuo; Danis, Daniel; Katsonis, Panagiotis; Williams, Amanda; Lichtarge, Olivier; Chang, Yuchen; Bagnall, Richard D; Mount, Stephen M; Matthiasardottir, Brynja; Lin, Chiaofeng; Hansen, Thomas van Overeem; Leman, Raphael; Martins, Alexandra; Houdayer, Claude; Krieger, Sophie; Bakolitsa, Constantina; Peng, Yisu; Kamandula, Akash; Radivojac, Predrag; Baralle, Diana

Recurrent Pericarditis in a Patient With Ankylosing Spondylitis: A Report of a Rare Case

强直性脊柱炎患者复发性心包炎:一例罕见病例报告

Sitari, Constantin; Sitari, Nicolae; Rodrigues, Isabel; Blanco Sáez, Rosario; Martins, Alexandra

Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

大规模应用 ClinGen-InSiGHT APC 特异性 ACMG/AMP 变异分类标准可显著减少 VUS。

Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V O; Pineda, Marta; Ritter, Deborah; de Dunnen, Johan; Hassanin, Emadeldin; Lin, Wencong Lyman; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M; Capellá, Gabriel; Latchford, Andrew; Tavtigian, Sean V; Maj, Carlo; Plon, Sharon E; Greenblatt, Marc S; Macrae, Finlay A; Spier, Isabel; Aretz, Stefan

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

ClinGen ENIGMA BRCA1 和 BRCA2 变异注释专家组针对基因特异性 ACMG/AMP 变异分类提出的循证建议

Parsons, Michael T; de la Hoya, Miguel; Richardson, Marcy E; Tudini, Emma; Anderson, Michael; Berkofsky-Fessler, Windy; Caputo, Sandrine M; Chan, Raymond C; Cline, Melissa S; Feng, Bing-Jian; Fortuno, Cristina; Gomez-Garcia, Encarna; Hadler, Johanna; Hiraki, Susan; Holdren, Megan; Houdayer, Claude; Hruska, Kathleen; James, Paul; Karam, Rachid; Leong, Huei San; Martins, Alexandra; Mensenkamp, Arjen R; Monteiro, Alvaro N; Nathan, Vaishnavi; O'Connor, Robert; Pedersen, Inge Sokilde; Pesaran, Tina; Radice, Paolo; Schmidt, Gunnar; Southey, Melissa; Tavtigian, Sean; Thompson, Bryony A; Toland, Amanda E; Turnbull, Clare; Vogel, Maartje J; Weyandt, Jamie; Wiggins, George A R; Zec, Lauren; Couch, Fergus J; Walker, Logan C; Vreeswijk, Maaike P G; Goldgar, David E; Spurdle, Amanda B

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

针对生殖系APC变异的基因特异性ACMG/AMP分类标准:ClinGen InSiGHT遗传性结直肠癌/息肉病变异注释专家组的建议

Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V O; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M; Yamamoto, Gou; Baert-Desurmont, Stéphanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capellá, Gabriel; Tavtigian, Sean V; Latchford, Andrew; Frayling, Ian M; Plon, Sharon E; Greenblatt, Marc; Macrae, Finlay A; Aretz, Stefan

Enhanced Cytotoxicity against a Pancreatic Cancer Cell Line Combining Radiation and Gold Nanoparticles

辐射与金纳米粒子联合作用增强对胰腺癌细胞系的细胞毒性

Martins, Alexandra; Ferreira, Brigida C; Gaspar, Maria Manuela; Vieira, Sandra; Lopes, Joana; Viana, Ana S; Paulo, António; Mendes, Filipa; Campello, Maria Paula Cabral; Martins, Rui; Reis, Catarina Pinto

Autoimmune Hepatitis Induced by Hepatitis Delta Virus: A Conundrum

由丁型肝炎病毒引起的自身免疫性肝炎:一个难题

Cardoso, Mariana F; Carvalho, Rita; Correia, Fábio Pereira; Branco, Joana C; Costa, Mariana Nuno; Martins, Alexandra

Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases

系统性地大规模应用 ClinGen InSiGHT APC 特异性 ACMG/AMP 变异分类标准,可显著减轻 ClinVar 和 LOVD 数据库中意义未明变异的负担。

Yin, Xiaoyu; Richardson, Marcy; Laner, Andreas; Shi, Xuemei; Ognedal, Elisabet; Vasta, Valeria; Hansen, Thomas V O; Pineda, Marta; Ritter, Deborah; den Dunnen, Johan T; Hassanin, Emadeldin; Lyman Lin, Wencong; Borras, Ester; Krahn, Karl; Nordling, Margareta; Martins, Alexandra; Mahmood, Khalid; Nadeau, Emily A W; Beshay, Victoria; Tops, Carli; Genuardi, Maurizio; Pesaran, Tina; Frayling, Ian M; Capellá, Gabriel; Latchford, Andrew; Tavtigian, Sean V; Maj, Carlo; Plon, Sharon E; Greenblatt, Marc S; Macrae, Finlay A; Spier, Isabel; Aretz, Stefan

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group

MMR基因变异的剪接分析:欧洲错配修复工作组的最佳实践建议

Morak, Monika; Pineda, Marta; Martins, Alexandra; Gaildrat, Pascaline; Tubeuf, Hélène; Drouet, Aurélie; Gómez, Carolina; Dámaso, Estela; Schaefer, Kerstin; Steinke-Lange, Verena; Koehler, Udo; Laner, Andreas; Hauchard, Julie; Chauris, Karine; Holinski-Feder, Elke; Capellá, Gabriel