Browsing by Author "Fakhro, Khalid A."

Now showing items 1-9 of 9

    • Burden of Mendelian disorders in a large Middle Eastern biobank 

      Aamer, Waleed; Al-Maraghi, Aljazi; Syed, Najeeb; Gandhi, Geethanjali Devadoss; Aliyev, Elbay; ... more authors (2024 , Article)
      Background: Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial ...

    • Functional characterization of human myosin-binding protein C3 variants associated with hypertrophic cardiomyopathy reveals exon-specific cardiac phenotypes in zebrafish model 

      Da'as, Sahar I.; Yalcin, Huseyin C.; Nasrallah, Gheyath K.; Mohamed, Iman A.; Nomikos, Michail; ... more authors ( Wiley , 2020 , Article)
      © 2020 Wiley Periodicals, Inc. Myosin-binding protein C 3 (MYBPC3) variants are the most common cause of hypertrophic cardiomyopathy (HCM). HCM is a complex cardiac disorder due to its significant genetic and clinical ...

    • Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study 

      Abdi, Mona; Aliyev, Elbay; Trost, Brett; Kohailan, Muhammad; Aamer, Waleed; ... more authors ( Springer Nature , 2023 , Article)
      Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children ...

    • Genomics of rare diseases in the Greater Middle East 

      Chekroun, Ikram; Shenbagam, Shruti; Almarri, Mohamed A.; Mokrab, Younes; Uddin, Mohammed; ... more authors ( Nature Research , 2025 , Article)
      The Greater Middle East (GME) represents a concentrated region of unparalleled genetic diversity, characterized by an abundance of distinct alleles, founder mutations and extensive autozygosity driven by high consanguinity ...

    • Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery 

      Ghorbani, Mohammadmersad; Moosa, Shabir; Siddig, Zenab; Farhad, Radi; Naeem, Haroon; ... more authors ( Elsevier , 2025 , Article)
      Advances in long-read sequencing have enabled routine complete assembly of human genomes, but much remains to be done to represent broader populations and show impact on disease-gene discovery. Here, we report highly ...

    • The QChip1 knowledgebase and microarray for precision medicine in Qatar 

      Rodriguez-Flores, Juan L.; Messai-Badji, Radja; Robay, Amal; Temanni, Ramzi; Syed, Najeeb; ... more authors ( Nature Research , 2022 , Article)
      Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs are typically population-private. The goal was to develop "QChip1," an inexpensive ...

    • Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes 

      Razali, Rozaimi Mohamad; Rodriguez-Flores, Juan; Ghorbani, Mohammadmersad; Naeem, Haroon; Aamer, Waleed; ... more authors ( Nature Research , 2021 , Article)
      Arab populations are largely understudied, notably their genetic structure and history. Here we present an in-depth analysis of 6,218 whole genomes from Qatar, revealing extensive diversity as well as genetic ancestries ...

    • Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model 

      Da’as, Sahar Isa; Hasan, Waseem; Salem, Rola; Younes, Nadine; Abdelrahman, Doua; ... more authors ( MDPI , 2022 , Article)
      Variants in cardiac myosin-binding protein C (cMyBP-C) are the leading cause of inherited hypertrophic cardiomyopathy (HCM), demonstrating the key role that cMyBP-C plays in the heart’s contractile machinery. To investigate ...

    • Validation of plasma protein glycation and oxidation biomarkers for the diagnosis of autism 

      Al-Saei, Aisha Nasser J. M.; Nour-Eldine, Wared; Rajpoot, Kashif; Arshad, Noman; Al-Shammari, Abeer R.; ... more authors ( Springer Nature , 2023 , Article)
      Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder in children. It is currently diagnosed by behaviour-based assessments made by observation and interview. In 2018 we reported a discovery study of a ...