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

Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting

超越基因组学:利用干血斑RNA测序揭示剪接变异在诊断中的临床意义

Bertoli-Avella, Aida M; Radefeldt, Mandy; Al-Ali, Ruslan; Pardo, Luba M; Lemke, Sabrina; Leubauer, Anika; Polla, Daniel L; Hörnicke, Rebecca; Almeida, Ligia S; Kandaswamy, Krishna Kumar; Beetz, Christian; Pinto Basto, Jorge; Bauer, Peter

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

一目了然:最大的尼曼匹克 C1 型患者队列,15 年来确诊 602 名患者

Pilar Guatibonza Moreno #, Luba M Pardo #, Catarina Pereira, Sabine Schroeder, Deepthi Vagiri, Ligia S Almeida, Carlos Juaristi, Heba Hosny, Clarice C Y Loh, Anika Leubauer, Galina Torres Morales, Sebastian Oppermann, Marius-Ionuț Iurașcu, Steffen Fischer, Tara-Marisa Steinicke, Nikenza Viceconte, C

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders

将外显子组/基因组测序与数据存储库分析相结合,揭示了多种遗传疾病的新型基因-疾病关联。

Bertoli-Avella, Aida M; Kandaswamy, Krishna K; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patrícia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S; Hüning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter

Pathogenic variants in PIDD1 lead to an autosomal recessive neurodevelopmental disorder with pachygyria and psychiatric features

PIDD1基因的致病变异会导致一种常染色体隐性遗传的神经发育障碍,伴有脑回增厚和精神症状。

Zaki, Maha S; Accogli, Andrea; Mirzaa, Ghayda; Rahman, Fatima; Mohammed, Hiba; Porras-Hurtado, Gloria Liliana; Efthymiou, Stephanie; Maqbool, Shazia; Shukla, Anju; Vincent, John B; Hussain, Abrar; Mir, Asif; Beetz, Christian; Leubauer, Anika; Houlden, Henry; Gleeson, Joseph G; Maroofian, Reza

Destination Imagery Diagnosis Model: The Case of Switzerland

目的地意象诊断模型:以瑞士为例

Cullufi, Paskal; Tabaku, Mirela; Velmishi, Virtut; Gjikopulli, Agim; Tomori, Sonila; Dervishi, Ermira; Tako, Aferdita; Leubauer, Anika; Westenberger, Ana; Cozma, Claudia; Beetz, Christian; Bauer, Peter; Wirth, Stefan; Rolfs, Arndt; Chen, Meng-Mei; Zizka, Laura; Zhang, Effie Ruiheng; Gentinetta, Justine