Browsing Faculty Publications (CoM) by Author "Nassir, Nasna"
Now showing items 1-5 of 5
-
Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome
Begum, Ghausia; Albanna, Ammar; Bankapur, Asma; Berdiev, Bakhrom K.; Karuvantevida, Noushad; Alhashmi, Deena; Alsheikh-Ali, Alawi A.; Uddin, Mohammed; Nassir, Nasna; Tambi, Richa (2021)Abstract: The advent of long-read sequencing offers a new assessment method of detecting genomic structural variation (SV) in numerous rare genetic diseases. For autism spectrum disorders (ASD) cases where pathogenic ... -
Mutational Landscape of Autism Spectrum Disorder Brain Tissue
Begum, Ghausia; Nassir, Nasna; Uddin, Mohammed (2022)Abstract: Rare post-zygotic mutations in the brain are now known to contribute to several neurodevelopmental disorders, including autism spectrum disorder (ASD). However, due to the limited availability of brain tissue, ... -
Single-cell transcriptome identifes molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells
Nassir, Nasna; Bankapur, Asma; Ali, Abdulrahman; Ahmed, Awab; Inuwa, Ibrahim M.; Shabestari, Seyed Ali Safzadeh; AlBanna, Ammar; Berdiev, Bakhrom K.; Uddin, Mohammed (2021)Background: In recent years, several hundred autism spectrum disorder (ASD) implicated genes have been discov ered impacting a wide range of molecular pathways. However, the molecular underpinning of ASD, particularly ... -
Single-cell transcriptome identifies FCGR3B upregulated subtype of alveolar macrophages in patients with critical COVID-19
Nassir, Nasna; Tambi, Richa; Bankapur, Asma; Al Heialy, Saba; Karuvantevida, Noushad; Zehra, Binte; Begum, Ghausia; Hameid, Reem Abdel; Ahmed, Awab; Shabestari, Seyed Ali Safizadeh; Kandasamy, Richard Kumaran; Loney, Tom; Tayoun, Ahmad Abou; Nowotny, Norbert; Hachim, Mahmood Yaseen; Berdiev, Bakhrom K.; Alsheikh-Ali, Alawi; Uddin, Mohammed (2021)Summary: Understanding host cell heterogeneity is critical for unraveling disease mechanism. Utilizing large-scale single-cell transcriptomics, we analyzed multiple tissue specimens from patients with life-threatening ... -
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
Nassir, Nasna; Begum, Ghausia; Hameid, Reem Abdel; Berdeiv, Bakhrom K.; Uddin, Mohammed (2021)Abstract: Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted wholeexome sequencing (WES) and identified underlying pathogenic or likely pathogenic ...