Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia

by Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega, Anas M. Alazami
Published 2019-07-01

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

by Anas M. Alazami, Anas M. Alazami, Maryam Al-Helale, Safa Alhissi, Bandar Al-Saud, Huda Alajlan, Dorota Monies, Dorota Monies, Zeeshan Shah, Zeeshan Shah, Mohamed Abouelhoda, Mohamed Abouelhoda, Rand Arnaout, Rand Arnaout, Hasan Al-Dhekri, Nouf S. Al-Numair, Hazem Ghebeh, Hazem Ghebeh, Farrukh Sheikh, Hamoud Al-Mousa, Hamoud Al-Mousa, Hamoud Al-Mousa
Published 2018-02-01

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

by Brody Holohan, Wanil Kim, Tsung-Po Lai, Hirotoshi Hoshiyama, Ning Zhang, Anas M. Alazami, Woodring E. Wright, M. Stephen Meyn, Fowzan S. Alkuraya, Jerry W. Shay
Published 2016-10-01

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

by Anas M. Alazami, Nisha Patel, Hanan E. Shamseldin, Shamsa Anazi, Mohammed S. Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A. Aldahmesh, Mustafa A. Salih, Eissa Faqeih, Amal Alhashem, Fahad A. Bashiri, Mohammed Al-Owain, Amal Y. Kentab, Sameera Sogaty, Saeed Al Tala, Mohamad-Hani Temsah, Maha Tulbah, Rasha F. Aljelaify, Saad A. Alshahwan, Mohammed Zain Seidahmed, Adnan A. Alhadid, Hesham Aldhalaan, Fatema AlQallaf, Wesam Kurdi, Majid Alfadhel, Zainab Babay, Mohammad Alsogheer, Namik Kaya, Zuhair N. Al-Hassnan, Ghada M.H. Abdel-Salam, Nouriya Al-Sannaa, Fuad Al Mutairi, Heba Y. El Khashab, Saeed Bohlega, Xiaofei Jia, Henry C. Nguyen, Rakad Hammami, Nouran Adly, Jawahir Y. Mohamed, Firdous Abdulwahab, Niema Ibrahim, Ewa A. Naim, Banan Al-Younes, Brian F. Meyer, Mais Hashem, Ranad Shaheen, Yong Xiong, Mohamed Abouelhoda, Abdulrahman A. Aldeeri, Dorota M. Monies, Fowzan S. Alkuraya
Published 2015-01-01