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

by Sami Raja Alallasi, Amal A. Kokandi, Babajan Banagnapali, Babajan Banagnapali, Noor Ahmad Shaik, Noor Ahmad Shaik, Bandar Ali Al-Shehri, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Musharraf Jelani, Musharraf Jelani
Published 2019-02-01

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

by Hussein Sheikh Mohamoud, Saleem Ahmed, Musharraf Jelani, Nuha Alrayes, Kay Childs, Nirmal Vadgama, Mona Mohammad Almramhi, Jumana Yousuf Al-Aama, Steve Goodbourn, Jamal Nasir
Published 2018-02-01

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

by Yaser Mohammad Alkhiary, Musharraf Jelani, Mona Mohammad Almramhi, Hussein Sheikh Ali Mohamoud, Rayan Al-Rehaili, Hams Saeed Al-Zahrani, Rehab Serafi, Huanming Yang, Jumana Yousuf Al-Aama
Published 2016-09-01

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

by Rabab Said Alsafwani, Khalidah K. Nasser, Khalidah K. Nasser, Thoraia Shinawi, Babajan Banaganapalli, Babajan Banaganapalli, Hanan Abdelhalim ElSokary, Zhaher F. Zaher, Zhaher F. Zaher, Noor Ahmad Shaik, Noor Ahmad Shaik, Noor Ahmad Shaik, Gaser Abdelmohsen, Gaser Abdelmohsen, Jumana Yousuf Al-Aama, Jumana Yousuf Al-Aama, Adam J. Shapiro, Osman O. Al-Radi, Ramu Elango, Ramu Elango, Turki Alahmadi, Turki Alahmadi
Published 2021-09-01

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

by Hussein Sheikh Ali Mohamoud, Muhammad Ramzan Manwar Hussain, Ashraf A. El-Harouni, Noor Ahmad Shaik, Zaheer Ulhaq Qasmi, Amir Feisal Merican, Mukhtiar Baig, Yasir Anwar, Hani Asfour, Nabeel Bondagji, Jumana Yousuf Al-Aama
Published 2014-01-01

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...

by Jumana Yousuf Al-Aama, Noor Ahmad Shaik, Babajan Banaganapalli, Mohammed A Salama, Omran Rashidi, Ahmed N Sahly, Mohammed O Mohsen, Harbi A Shawoosh, Hebah Ahmad Shalabi, Mohammad Al Edreesi, Sameer E Alharthi, Jun Wang, Ramu Elango, Omar I Saadah
Published 2017-01-01

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

by Hifaa A. Bokhari, Noor Ahmad Shaik, Babajan Banaganapalli, Khalidah Khalid Nasser, Hossain Ibrahim Ageel, Ali Saad Al Shamrani, Omran M. Rashidi, Omar Yaseen Al Ghubayshi, Jilani Shaik, Aftab Ahmad, Nuha Mohammad Alrayes, Jumana Yousuf Al-Aama, Ramu Elango, Omar Ibrahim Saadah
Published 2020-06-01