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

Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants

47种ATM剪接位点变体的实验性错误剪接评估和ACMG/AMP指导分类

Llinares-Burguet, Inés; Sanoguera-Miralles, Lara; Bueno-Martínez, Elena; Esteban-Sanchez, Ada; Romano-Medina, Daniel; Ramadane-Morchadi, Lobna; García-Álvarez, Alicia; Pérez-Segura, Pedro; Easton, Doug F; Devilee, Peter; Vreeswijk, Maaike P G; de la Hoya, Miguel; Velasco-Sampedro, Eladio A

BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

BRCA1、BRCA2 和 PALB2 相关范可尼贫血:拓展疾病表型特征并预测杂合子乳腺癌风险的潜力

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil M; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy E; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; García-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; Hoya, Miguel de la; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence

ACMG/AMP对BRCA1错义变异的解读:基于结构的评分为PP3/BP4计算证据增加了证据强度的细粒度

Ramadane-Morchadi, Lobna; Rotenberg, Nitsan; Esteban-Sánchez, Ada; Fortuno, Cristina; Gómez-Sanz, Alicia; Varga, Matthew J; Chamberlin, Adam; Richardson, Marcy E; Michailidou, Kyriaki; Pérez-Segura, Pedro; Spurdle, Amanda B; de la Hoya, Miguel

Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants

蛋白质稳定性评分与AlphaMissense评分的整合提高了对p53错义突变和框内氨基酸缺失变异的生物信息学影响预测。

Rotenberg, Nitsan; Fortuno, Cristina; Varga, Matthew J; Chamberlin, Adam C; Ramadane-Morchadi, Lobna; Feng, Bing-Jian; de la Hoya, Miguel; Richardson, Marcy E; Spurdle, Amanda B

Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes

对 BRCA1、BRCA2 和 PALB2 相关范可尼贫血症的分析表明,可以扩展疾病表型特征并预测杂合子患乳腺癌的风险。

Johnatty, Sharon E; Tudini, Emma; Parsons, Michael T; Michailidou, Kyriaki; Zanti, Maria; Canson, Daffodil; Davidson, Aimee L; Berger, Tamar; Rosti, Rasim Ozgur; Kratz, Christian P; Kalb, Reinhard; McReynolds, Lisa J; Giri, Neelam; Richardson, Marcy; Pesaran, Tina; Surrallés, Jordi; Pujol, Roser; Vundinti, Babu Rao; George, Merin; Maxwell, Kara N; Nathanson, Kate; Domchek, Susan; Fiesco-Roa, Moisés Ó; Frias, Sara; Garcia-de-Teresa, Benilde; Jongmans, Marjolijn; Lalani, Seema; Maiburg, Merel; Prescott, Katrina; Robinson, Rachel; Rajagopalan, Sulekha; Blok, Lot Snijders; Temple, Suzanna E L; Tucker, Kathy; Auerbach, Arleen D; Cancio, Maria I; Kennedy, Jennifer A; MacMillan, Margaret L; Tryon, Rebecca; Wagner, John E; Walsh, Michael; Boddicker, Nicholas J; Hu, Chunling; Weitzel, Jeffrey N; Dingemans, Alexander J M; Hadler, Johanna; Rotenberg, Nitsan; Ramadane-Morchadi, Lobna; de la Hoya, Miguel; James, Paul; Van Overeem Hansen, Thomas; Vreeswijk, Maaike P G; Walker, Logan C; Sharan, Shyam K; Easton, Douglas F; Couch, Fergus; Smogorzewska, Agata; Nelson, Adam; Ngeow, Joanne; Tischkowitz, Marc; Gomez-Garcia, Encarnacion; Spurdle, Amanda B

Seroprevalence and associated risk factors of brucellosis, Rift Valley fever and Q fever among settled and mobile agro-pastoralist communities and their livestock in Chad

乍得定居和流动农牧社区及其牲畜中布鲁氏菌病、裂谷热和Q热的血清流行率及相关危险因素

Özcelik, Ranya; Abakar, Mahamat Fayiz; Counotte, Michel Jacques; Abdelrazak Zakaria, Fatima; Kimala, Pidou; Issa, Ramadane; Dürr, Salome