Genomic medicine in the Middle East

por Abou Tayoun, Ahmad N., Fakhro, Khalid A., Alsheikh-Ali, Alawi, Alkuraya, Fowzan S.
Publicado 2021

Single-Nucleotide Variations of the Human Nuclear Hormone Receptor Genes in 60,000 Individuals

por Mackeh, Rafah, Marr, Alexandra K., Dargham, Soha R., Syed, Najeeb, Fakhro, Khalid A., Kino, Tomoshige
Publicado 2017

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

por Selvaraj, Senthil, Rodrigues, Dírcea, Krishnamoorthy, Navaneethakrishnan, Fakhro, Khalid A., Saraiva, Luís R., Lemos, Manuel C.
Publicado 2022

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

por Robay, Amal, Abbasi, Saleha, Akil, Ammira, El-Bardisi, Haitham, Arafa, Mohamed, Crystal, Ronald G., Fakhro, Khalid A.
Publicado 2018

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

por Akil, Ammira Al-Shabeeb, Yassin, Esraa, Al-Maraghi, Aljazi, Aliyev, Elbay, Al-Malki, Khulod, Fakhro, Khalid A.
Publicado 2021

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

por Akil, Ammira-Sarah AL-Shabeeb, Jerman, Laila F., Yassin, Esraa, Padmajeya, Sujitha S., Al-Kurbi, Alya, Fakhro, Khalid A.
Publicado 2020

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

por Romdhane, Lilia, Mezzi, Nessrine, Dallali, Hamza, Messaoud, Olfa, Shan, Jingxuan, Fakhro, Khalid A., Kefi, Rym, Chouchane, Lotfi, Abdelhak, Sonia
Publicado 2021

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

por Rossi, Niccolo’, Aliyev, Elbay, Visconti, Alessia, Akil, Ammira S. A., Syed, Najeeb, Aamer, Waleed, Padmajeya, Sujitha S., Falchi, Mario, Fakhro, Khalid A.
Publicado 2021

Analysis of incidental findings in Qatar genome participants reveals novel functional variants in LMNA and DSP

por Elfatih, Amal, Da’as, Sahar I, Abdelrahman, Doua, Mbarek, Hamdi, Mohammed, Idris, Hasan, Waseem, Fakhro, Khalid A, Estivill, Xavier, Mifsud, Borbala
Publicado 2022

Novel MYO5B mutation in microvillous inclusion disease of Syrian ancestry

por Hassan, Kamal, Robay, Amal, Al-Maraghi, Aljazi, Nimeri, Nuha, Azzam, Asmaa Basheer, Al Shakaki, Alya, Hamid, Eman, Crystal, Ronald G., Fakhro, Khalid A.
Publicado 2022

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

por Razali, Rozaimi Mohamad, Rodriguez-Flores, Juan, Ghorbani, Mohammadmersad, Naeem, Haroon, Aamer, Waleed, Aliyev, Elbay, Jubran, Ali, Clark, Andrew G., Fakhro, Khalid A., Mokrab, Younes
Publicado 2021

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

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

Patterns and distribution of de novo mutations in multiplex Middle Eastern families

por Kohailan, Muhammad, Aamer, Waleed, Syed, Najeeb, Padmajeya, Sujitha, Hussein, Sura, Sayed, Amira, Janardhanan, Jyothi, Palaniswamy, Sasirekha, El hajj, Nady, Al-Shabeeb Akil, Ammira, Fakhro, Khalid A.
Publicado 2022

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

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

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

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

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

por Gandhi, Geethanjali Devadoss, Aamer, Waleed, Krishnamoorthy, Navaneethakrishnan, Syed, Najeeb, Aliyev, Elbay, Al-Maraghi, Aljazi, Kohailan, Muhammad, Alenbawi, Jamil, Elanbari, Mohammed, Mifsud, Borbala, Mokrab, Younes, Khalil, Charbel Abi, Fakhro, Khalid A.
Publicado 2022

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

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

Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype

por Fadda, Abeer, Butt, Fiza, Tomei, Sara, Deola, Sara, Lo, Bernice, Robay, Amal, Al-Shakaki, Alya, Al-Hajri, Noor, Crystal, Ronald, Kambouris, Marios, Wang, Ena, Marincola, Francesco M., Fakhro, Khalid A., Cugno, Chiara
Publicado 2016

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

por 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.
Publicado 2022

The immune landscape of solid pediatric tumors

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