Exome Sequencing Identifies the Extremely Rare ITGAV and FN1 Variants in Early Onset Inflammatory Bowel Disease Patients

por Al-Numan, Huda Husain, Jan, Rana Mohammed, Al-Saud, Najla bint Saud, Rashidi, Omran M., Alrayes, Nuha Mohammad, Alsufyani, Hadeel A., Mujalli, Abdulrahman, Shaik, Noor Ahmad, Mosli, Mahmoud Hisham, Elango, Ramu, Saadah, Omar I., Banaganapalli, Babajan
Publicado 2022

Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis

por Jan, Rana Mohammed, Al-Numan, Huda Husain, Al-Twaty, Nada Hassan, Alrayes, Nuha, Alsufyani, Hadeel A., Alaifan, Meshari A., Alhussaini, Bakr H., Shaik, Noor Ahmad, Awan, Zuhier, Qari, Yousef, Saadah, Omar I., Banaganapalli, Babajan, Mosli, Mahmoud Hisham, Elango, Ramu
Publicado 2023

Exome sequencing and metabolomic analysis of a chronic kidney disease and hearing loss patient family revealed RMND1 mutation induced sphingolipid metabolism defects

por Gaboon, Nagwa E.A., Banaganapalli, Babajan, Nasser, Khalidah, Razeeth, Mohammed, Alsaedi, Mosab S., Rashidi, Omran M., Abdelwehab, Lereen S., Alahmadi, Turki Saad, Safdar, Osama Y., Shaik, Jilani, Choudhry, Hani M.Z., Al-numan, Huda Husain, Khan, Mohammad Imran, Al-Aama, Jumana Y., Elango, Ramu, Shaik, Noor A.
Publicado 2020