Browsing by Author "Fakhro, Khalid A."
Now showing items 1-5 of 5
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Burden of Mendelian disorders in a large Middle Eastern biobank
Aamer, Waleed; Al-Maraghi, Aljazi; Syed, Najeeb; Gandhi, Geethanjali Devadoss; Aliyev, Elbay; Al-Kurbi, Alya A.; Al-Saei, Omayma; Kohailan, Muhammad; Krishnamoorthy, Navaneethakrishnan; Palaniswamy, Sasirekha; Al-Malki, Khulod; Abbasi, Saleha; Agrebi, Nourhen; Abbaszadeh, Fatemeh; Akil, Ammira S.Al Shabeeb; Badii, Ramin; Ben-Omran, Tawfeg; Lo, Bernice; Mokrab, Younes; Fakhro, Khalid A.... more authors ... less 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 ... -
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
Abdi, Mona; Aliyev, Elbay; Trost, Brett; Kohailan, Muhammad; Aamer, Waleed; Syed, Najeeb; Shaath, Rulan; Gandhi, Geethanjali Devadoss; Engchuan, Worrawat; Howe, Jennifer; Thiruvahindrapuram, Bhooma; Geng, Melissa; Whitney, Joe; Syed, Amira; Lakshmi, Jyothi; Hussein, Sura; Albashir, Najwa; Hussein, Amal; Poggiolini, Ilaria; Elhag, Saba F.; Palaniswamy, Sasirekha; Kambouris, Marios; de Fatima Janjua, Maria; Tahir, Mohamed O.El; Nazeer, Ahsan; Shahwar, Durre; Azeem, Muhammad Waqar; Mokrab, Younes; Aati, Nazim Abdel; Akil, Ammira; Scherer, Stephen W.; Kamal, Madeeha; Fakhro, Khalid A.... more authors ... less 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 ... -
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; Harvey, William T.; Mastrorosa, Francesco Kumara; Munson, Katherine M.; Mohamad Razali, Rozaimi; Aliyev, Elbay; Diboun, Ilhame; Abouelhassan, Rawan; Tauro, Melissa; Hassan, Sondoss; Mathew, Rebecca; Al Hashmi, Muna; Mathew, Lisa S.; Wang, Kun; Salhab, Abdul Rahman; Vempalli, Fazulur Rehaman; El Khouly, Ahmed; Tatari, Zohreh; Suhre, Karsten; Puthen, Jithesh V.; Fakhro, Khalid; Estivill, Xavier; Chouchane, Lotfi; Badii, Ramin; Alshafai, Mashael; Al-Khodor, Souhaila; Albagha, Omar; Al-Ali, Rashid; Poolat, Shafeeq; Pathare, Tushar; Zaid, Tariq Abu; Hamza, Mehshad; Khatib, Mohammedhusen; Saqri, Tariq Abu; Temanni, Ramzi; Almabrazi, Hakeem; Syed, Najeeb; Lorenz, Stephan; Liu, Wei; Afifi, Nahla; Alkhayat, Eiman; Qafoud, Fatima; Fethnou, Eleni; Althani, Asmaa; Saad, Chadi; Al-Sarraj, Yasser; Alvi, Muhammad; Alkuwari, Fatima; Abdellatif, Rania; Ennaifar, Maryem; Yasin, Heba; Fadl, Tasnim; Darwish, Dima; Mbarek, Hamdi; Badji, Radja; Al-Muftah, Wadha; Ismail, Said I.; Alazwani, Iman; Tomei, Sara; Fakhro, Khalid A.; Satti, Alia; Benini, Ruba; Rhie, Arang; Eichler, Evan E.; Mokrab, Younes... more authors ... less 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 ... -
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; Aliyev, Elbay; Jubran, Ali; Ismail, Said I.; Al-Muftah, Wadha; Badji, Radja; Mbarek, Hamdi; Darwish, Dima; Fadl, Tasnim; Yasin, Heba; Ennaifar, Maryem; Abdellatif, Rania; Alkuwari, Fatima; Alvi, Muhammad; Al-Sarraj, Yasser; Saad, Chadi; Althani, Asmaa; Fethnou, Eleni; Qafoud, Fatima; Alkhayat, Eiman; Afifi, Nahla; Tomei, Sara; Liu, Wei; Lorenz, Stephan; Syed, Najeeb; Almabrazi, Hakeem; Vempalli, Fazulur Rehaman; Temanni, Ramzi; Saqri, Tariq Abu; Khatib, Mohammedhusen; Hamza, Mehshad; Zaid, Tariq Abu; El Khouly, Ahmed; Pathare, Tushar; Poolat, Shafeeq; Al-Ali, Rashid; Albagha, Omar; Al-Khodor, Souhaila; Alshafai, Mashael; Badii, Ramin; Chouchane, Lotfi; Estivill, Xavier; Fakhro, Khalid A.; Mokrab, Younes; Puthen, Jithesh V.; Suhre, Karsten; Tatari, Zohreh; Clark, Andrew G.... more authors ... less 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; Mohamed, Iman A.; Aldaalis, Arwa; Temanni, Ramzi; Mathew, Lisa Sara; Lorenz, Stephan; Yacoub, Magdi; Nomikos, Michail; Nasrallah, Gheyath K.; Fakhro, Khalid A.... more authors ... less 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 ...