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

Horizon: CNV interpretation through rapid automated ACMG-aligned pathogenicity analysis

Horizon:通过快速自动化的ACMG一致性致病性分析进行CNV解读

Eldesouky, Mariam; Shiyas, Suhana; Islam, Amirul; Hasan, Md Nahid; Hossain, Md Tanvir; Akter, Hosneara; Saiful, Md; Berdiev, Bakhrom K; Kuebler, Wolfgang M; Rahman, Proton; Woodbury-Smith, Marc; Hasan, Syed M; Uddin, Mohammed; Nassir, Nasna

A draft UAE-based Arab pangenome reference

一份基于阿联酋的阿拉伯泛基因组参考草案

Nasna Nassir ,Mohamed A Almarri ,Muhammad Kumail ,Nesrin Mohamed ,Bipin Balan ,Shehzad Hanif ,Maryam AlObathani ,Bassam Jamalalail ,Hanan Elsokary ,Dasuki Kondaramage ,Suhana Shiyas ,Noor Kosaji ,Dharana Satsangi ,Madiha Hamdi Saif Abdelmotagali ,Ahmad Abou Tayoun ,Olfat Zuhair Salem Ahmed ,Douaa Fathi Youssef ,Hanan Al Suwaidi ,Ammar Albanna ,Stefan S Du Plessis ,Hamda Hassan Khansaheb ,Alawi Alsheikh-Ali ,Mohammed Uddin

Mapping human brain cell type origin and diseases through single-cell transcriptomics

通过单细胞转录组学绘制人类脑细胞类型起源和疾病图谱

Soorajkumar, Anjana; Balan, Bipin; Nassir, Nasna; Akter, Hosneara; Shahin, Zaha; Berdiev, Bakhrom K; Woodbury-Smith, Marc; Khalil, Reem; Cisse, Babacar; Benamer, Hani T S; Uddin, Mohammed

Quantum computing and the implementation of precision medicine

量子计算与精准医疗的实施

Nassir, Nasna; Hashmi, Mohammad Amiruddin; Raji, Kavya Gopan; Jamalalail, Bassam; Maksymowsky, Andrew; Scherer, Stephen W; Alsheikh-Ali, Alawi; Uddin, Mohammed

Absence of the LRRK2 mutation in Emirati Parkinson's disease patients in contrast to other Arab populations

与其他阿拉伯人群相比,阿联酋帕金森病患者中未发现LRRK2基因突变。

Metta, Vinod; Soorajkumar, Anjana; Loney, Tom; Nassir, Nasna; Chaudhuri, K Ray; Uddin, Mohammed Jashim; Benamer, Hani T S

Genomic insights into Rett syndrome-like features in Bangladeshi participants

孟加拉国参与者中雷特综合征样特征的基因组学见解

Akter, Hosneara; Rahman, Muhammad Mizanur; Mim, Rabeya Akter; Rahaman, Atikur; Eshaque, Tamannyat Binte; Hossain, Syed Akib; Ganguly, Athoi; Omar, Farjana Binta; Taniya, Masuma Afrin; Hasan, Nahid; Islam, Amirul; Jamalalail, Bassam; Nassir, Nasna; Zehra, Binte; Sarker, Shaoli; Uddin, K M Furkan; Nabi, A H M Nurun; Woodbury-Smith, Marc; Uddin, Mohammed

Cell-specific MAPT gene expression is preserved in neuronal and glial tau cytopathologies in progressive supranuclear palsy

进行性核上性麻痹的神经元和胶质细胞 tau 细胞病理学中保留了细胞特异性 MAPT 基因表达

Shelley L Forrest, Seojin Lee, Nasna Nassir, Ivan Martinez-Valbuena, Valerie Sackmann, Jun Li, Awab Ahmed, Maria Carmela Tartaglia, Lars M Ittner, Anthony E Lang, Mohammed Uddin, Gabor G Kovacs

Neuronal SNCA transcription during Lewy body formation

路易体形成过程中神经元SNCA转录

Kon, Tomoya; Forrest, Shelley L; Lee, Seojin; Martinez-Valbuena, Ivan; Li, Jun; Nassir, Nasna; Uddin, Mohammed J; Lang, Anthony E; Kovacs, Gabor G

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population

孟加拉国人群中杜氏肌营养不良症及相关疾病的突变谱和表型变异性

Sarker, Shaoli; Eshaque, Tamannyat Binte; Soorajkumar, Anjana; Nassir, Nasna; Zehra, Binte; Kanta, Shayla Imam; Rahaman, Md Atikur; Islam, Amirul; Akter, Shimu; Ali, Mohammad Kawsar; Mim, Rabeya Akter; Uddin, K M Furkan; Chowdhury, Mohammod Shah Jahan; Shams, Nusrat; Baqui, Md Abdul; Lim, Elaine T; Akter, Hosneara; Woodbury-Smith, Marc; Uddin, Mohammed

Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development

神经发育障碍和先天性异常中重叠的致病性新生拷贝数变异影响调控早期发育的约束基因

Safizadeh Shabestari, Seyed Ali; Nassir, Nasna; Sopariwala, Samana; Karimov, Islam; Tambi, Richa; Zehra, Binte; Kosaji, Noor; Akter, Hosneara; Berdiev, Bakhrom K; Uddin, Mohammed