A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family

by Safeer Ahmad, Muhammad Zeeshan Ali, Sumra Wajid Abbasi, Safdar Abbas, Iftikhar Ahmed, Shakil Abbas, Shoaib Nawaz, Mubarak Ziab, Ikhlak Ahmed, Khalid A. Fakhro, Khalid A. Fakhro, Khalid A. Fakhro, Muzammil Ahmad Khan, Ammira Al-Shabeeb Akil, Ammira Al-Shabeeb Akil
Published 2023-03-01

Conserved genes regulating human sex differentiation, gametogenesis and fertilization

by Khalid A. Fakhro, Johnny Awwad, Suma Garibova, Luis R. Saraiva, Matteo Avella
Published 2024-05-01

Genomic medicine in the Middle East

by Ahmad N. Abou Tayoun, Khalid A. Fakhro, Alawi Alsheikh-Ali, Fowzan S. Alkuraya
Published 2021-11-01

Clinical, Genetic and Functional Characterization of a Novel <i>AVPR2</i> Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus

by Senthil Selvaraj, Dírcea Rodrigues, Navaneethakrishnan Krishnamoorthy, Khalid A. Fakhro, Luís R. Saraiva, Manuel C. Lemos
Published 2022-01-01

Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era

by Ammira Al-Shabeeb Akil, Esraa Yassin, Aljazi Al-Maraghi, Elbay Aliyev, Khulod Al-Malki, Khalid A. Fakhro
Published 2021-04-01

A systematic review on the genetics of male infertility in the era of next-generation sequencing

by Amal Robay, Saleha Abbasi, Ammira Akil, Haitham El-Bardisi, Mohamed Arafa, Ronald G. Crystal, Khalid A. Fakhro
Published 2018-03-01

Reading between the (Genetic) Lines: How Epigenetics is Unlocking Novel Therapies for Type 1 Diabetes

by Ammira-Sarah AL-Shabeeb Akil, Laila F. Jerman, Esraa Yassin, Sujitha S. Padmajeya, Alya Al-Kurbi, Khalid A. Fakhro
Published 2020-11-01

A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa

by Lilia Romdhane, Nessrine Mezzi, Hamza Dallali, Olfa Messaoud, Jingxuan Shan, Khalid A. Fakhro, Rym Kefi, Lotfi Chouchane, Sonia Abdelhak
Published 2021-01-01

Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank

by Niccolo’ Rossi, Elbay Aliyev, Alessia Visconti, Ammira S. A. Akil, Najeeb Syed, Waleed Aamer, Sujitha S. Padmajeya, Mario Falchi, Khalid A. Fakhro
Published 2021-02-01

<i>PGAP3</i> Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

by Sahar I. Da’as, Waleed Aamer, Waseem Hasan, Aljazi Al-Maraghi, Alya Al-Kurbi, Houda Kilani, Jehan AlRayahi, Khaled Zamel, Mitchell A. Stotland, Khalid A. Fakhro
Published 2020-07-01

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

by Aljazi Al-Maraghi, Waleed Aamer, Mubarak Ziab, Elbay Aliyev, Najwa Elbashir, Sura Hussein, Sasirekha Palaniswamy, Dhullipala Anand, Donald R. Love, Adrian Charles, Ammira A.S.Akil, Khalid A. Fakhro
Published 2024-04-01

A Complex Intrachromosomal Rearrangement Disrupting <i>IRF6</i> in a Family with Popliteal Pterygium and Van der Woude Syndromes

by Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro
Published 2023-03-01

Genetic background of primary and familial HLH in Qatar: registry data and population study

by Elkhansa Elgaali, Massimo Mezzavilla, Ikhlak Ahmed, Mohammed Elanbari, Aesha Ali, Ghada Abdelaziz, Khalid A. Fakhro, Ayman Saleh, Tawfeg Ben-Omran, Tawfeg Ben-Omran, Naima Almulla, Chiara Cugno, Chiara Cugno
Published 2024-05-01

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

by Rozaimi Mohamad Razali, Juan Rodriguez-Flores, Mohammadmersad Ghorbani, Haroon Naeem, Waleed Aamer, Elbay Aliyev, Ali Jubran, Qatar Genome Program Research Consortium, Andrew G. Clark, Khalid A. Fakhro, Younes Mokrab
Published 2021-10-01

The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature

by Sahar I. Da’as, Ikhlak Ahmed, Waseem H. Hasan, Doua A. Abdelrahman, Elbay Aliyev, Sabah Nisar, Ajaz Ahmad Bhat, Mugdha V. Joglekar, Anandwardhan A. Hardikar, Khalid A. Fakhro, Ammira S. Al-Shabeeb Akil
Published 2023-03-01

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

by Sahar Isa Da’as, Waseem Hasan, Rola Salem, Nadine Younes, Doua Abdelrahman, Iman A. Mohamed, Arwa Aldaalis, Ramzi Temanni, Lisa Sara Mathew, Stephan Lorenz, Magdi Yacoub, Michail Nomikos, Gheyath K. Nasrallah, Khalid A. Fakhro
Published 2022-08-01

The immune landscape of solid pediatric tumors

by Shimaa Sherif, Jessica Roelands, William Mifsud, Eiman I. Ahmed, Christophe M. Raynaud, Darawan Rinchai, Abbirami Sathappan, Ata Maaz, Ayman Saleh, Erdener Ozer, Khalid A. Fakhro, Borbala Mifsud, Vésteinn Thorsson, Davide Bedognetti, Wouter R. L. Hendrickx
Published 2022-06-01

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank

by Geethanjali Devadoss Gandhi, Waleed Aamer, Navaneethakrishnan Krishnamoorthy, Najeeb Syed, Elbay Aliyev, Aljazi Al-Maraghi, Muhammad Kohailan, Jamil Alenbawi, Mohammed Elanbari, Qatar Genome Program Research Consortium (QGPRC), Borbala Mifsud, Younes Mokrab, Charbel Abi Khalil, Khalid A. Fakhro
Published 2022-11-01

Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder

by Rulan Shaath, Aljazi Al-Maraghi, Haytham Ali, Jehan AlRayahi, Adam D. Kennedy, Karen L. DeBalsi, Sura Hussein, Najwa Elbashir, Sujitha S. Padmajeya, Sasirekha Palaniswamy, Sarah H. Elsea, Ammira A. Akil, Noha A. Yousri, Khalid A. Fakhro
Published 2024-03-01

Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population

by Noha A. Yousri, Khalid A. Fakhro, Amal Robay, Juan L. Rodriguez-Flores, Robert P. Mohney, Hassina Zeriri, Tala Odeh, Sara Abdul Kader, Eman K. Aldous, Gaurav Thareja, Manish Kumar, Alya Al-Shakaki, Omar M. Chidiac, Yasmin A. Mohamoud, Jason G. Mezey, Joel A. Malek, Ronald G. Crystal, Karsten Suhre
Published 2018-01-01