Genome-Wide Association Study-Guided Exome Rare Variant Burden Analysis Identifies IL1R1 and CD3E as Potential Autoimmunity Risk Genes for Celiac Disease

por Mansour, Haifa, Banaganapalli, Babajan, Nasser, Khalidah Khalid, Al-Aama, Jumana Yousuf, Shaik, Noor Ahmad, Saadah, Omar Ibrahim, Elango, Ramu
Publicado 2022

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

por Rahman, Obaid Ur, Khawar, Nadeem, Khan, Muhammad Aman, Ahmed, Jawad, Khattak, Kamran, Al-Aama, Jumana Yousuf, Naeem, Muhammad, Jelani, Musharraf
Publicado 2013

Truncating mutation in intracellular phospholipase A(1) gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

por Alrayes, Nuha, Mohamoud, Hussein Sheikh Ali, Jelani, Musharraf, Ahmad, Saleem, Vadgama, Nirmal, Bakur, Khadijah, Simpson, Michael, Al-Aama, Jumana Yousuf, Nasir, Jamal
Publicado 2015

A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

por Mohamoud, Hussein Sheikh, Ahmed, Saleem, Jelani, Musharraf, Alrayes, Nuha, Childs, Kay, Vadgama, Nirmal, Almramhi, Mona Mohammad, Al-Aama, Jumana Yousuf, Goodbourn, Steve, Nasir, Jamal
Publicado 2018

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

por Alallasi, Sami Raja, Kokandi, Amal A., Banagnapali, Babajan, Shaik, Noor Ahmad, Al-Shehri, Bandar Ali, Alrayes, Nuha Mohammad, Al-Aama, Jumana Yousuf, Jelani, Musharraf
Publicado 2019

BRAF gene: From human cancers to developmental syndromes

por Hussain, Muhammad Ramzan Manwar, Baig, Mukhtiar, Mohamoud, Hussein Sheik Ali, Ulhaq, Zaheer, Hoessli, Daniel C., Khogeer, Ghaidaa Siraj, Al-Sayed, Ranem Radwan, Al-Aama, Jumana Yousuf
Publicado 2015

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

por Alkhiary, Yaser Mohammad, Jelani, Musharraf, Almramhi, Mona Mohammad, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Al-Zahrani, Hams Saeed, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf
Publicado 2016

Exploring celiac disease candidate pathways by global gene expression profiling and gene network cluster analysis

por Banaganapalli, Babajan, Mansour, Haifa, Mohammed, Arif, Alharthi, Arwa Mastoor, Aljuaid, Nada Mohammed, Nasser, Khalidah Khalid, Ahmad, Aftab, Saadah, Omar I., Al-Aama, Jumana Yousuf, Elango, Ramu, Shaik, Noor Ahmad
Publicado 2020

First Comprehensive In Silico Analysis of the Functional and Structural Consequences of SNPs in Human GalNAc-T1 Gene

por Ali Mohamoud, Hussein Sheikh, Manwar Hussain, Muhammad Ramzan, El-Harouni, Ashraf A., Shaik, Noor Ahmad, Qasmi, Zaheer Ulhaq, Merican, Amir Feisal, Baig, Mukhtiar, Anwar, Yasir, Asfour, Hani, Bondagji, Nabeel, Al-Aama, Jumana Yousuf
Publicado 2014

TagSNP approach for HLA risk allele genotyping of Saudi celiac disease patients: effectiveness and pitfalls

por Baaqeel, Reham H., Banaganapalli, Babajan, Al Mahdi, Hadiah Bassam, Salama, Mohammed A., Alhussaini, Bakr H., Alaifan, Meshari A., Bin-Taleb, Yagoub, Shaik, Noor Ahmad, Al-Aama, Jumana Yousuf, Elango, Ramu, Saadah, Omar I.
Publicado 2021

Novel MYO1D Missense Variant Identified Through Whole Exome Sequencing and Computational Biology Analysis Expands the Spectrum of Causal Genes of Laterality Defects

por Alsafwani, Rabab Said, Nasser, Khalidah K., Shinawi, Thoraia, Banaganapalli, Babajan, ElSokary, Hanan Abdelhalim, Zaher, Zhaher F., Shaik, Noor Ahmad, Abdelmohsen, Gaser, Al-Aama, Jumana Yousuf, Shapiro, Adam J., O. Al-Radi, Osman, Elango, Ramu, Alahmadi, Turki
Publicado 2021

Whole exome sequencing of a consanguineous family identifies the possible modifying effect of a globally rare AK5 allelic variant in celiac disease development among Saudi patients

por Al-Aama, Jumana Yousuf, Shaik, Noor Ahmad, Banaganapalli, Babajan, Salama, Mohammed A., Rashidi, Omran, Sahly, Ahmed N., Mohsen, Mohammed O., Shawoosh, Harbi A., Shalabi, Hebah Ahmad, Edreesi, Mohammad Al, Alharthi, Sameer E., Wang, Jun, Elango, Ramu, Saadah, Omar I.
Publicado 2017

A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

por Jelani, Musharraf, Dooley, Hannah C., Gubas, Andrea, Mohamoud, Hussein Sheikh Ali, Khan, Muhammad Tariq Masood, Ali, Zahir, Kang, Changsoo, Rahim, Fazal, Jan, Amin, Vadgama, Nirmal, Khan, Muhammad Ismail, Al-Aama, Jumana Yousuf, Khan, Asifullah, Tooze, Sharon A, Nasir, Jamal
Publicado 2019

Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease

por Bokhari, Hifaa A., Shaik, Noor Ahmad, Banaganapalli, Babajan, Nasser, Khalidah Khalid, Ageel, Hossain Ibrahim, Al Shamrani, Ali Saad, Rashidi, Omran M., Al Ghubayshi, Omar Yaseen, Shaik, Jilani, Ahmad, Aftab, Alrayes, Nuha Mohammad, Al-Aama, Jumana Yousuf, Elango, Ramu, Saadah, Omar Ibrahim
Publicado 2020