Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases by Malak A. Alghamdi, Mohammed Tohary, Hamad Alzaidan, Faiqa Imtiaz, Zuhair N. Al‐Hassnan

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A case report of a first pregnant woman with late-onset multiple acyl-CoA dehydrogenase deficiency in Saudi Arabia by Shirin Al Sharfa, Rawda Sunbul, Zainab Al Masseri, Moeenaldeen AlSayed, Zuhair N. Al-Hassnan

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Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case... by Mohammad M. Al-Qattan, Zuhair A. Rahbeeni, Zuhair N. Al-Hassnan, Abdulaziz Jarman, Atif Rafique, Nehal Mahabbat, Faris A. S. Alsufayan

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The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients by Zuhair N. Al-Hassnan, Ola A. Khalifa, Dalal K. Bubshait, Sahar Tulbah, Maarab Alkorashy, Hamad Alzaidan, Mohammed Alowain, Zuhair Rahbeeni, Moeen Al-Sayed

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Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population by Mohamed H. Al‐Hamed, Alya Qari, Lamya Alrayes, Mohammed Alotaibi, Zainab Al Masseri, Afaf Alotaibi, Abdullah AlAshwal, Zuhair N. AlHassnan, Afaf Alsagheir

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A complex unit for a complex disease: the HCM-Family Unit by Olga Vriz, Hani AlSergani, Ahmed Nahid Elshaer, Abdullah Shaik, Ali Hassan Mushtaq, Michele Lioncino, Bandar Alamro, Emanuele Monda, Martina Caiazza, Ciro Mauro, Eduardo Bossone, Zuhair N. Al-Hassnan, Dimpna Albert-Brotons, Giuseppe Limongelli

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Molecular Dynamics Simulation Reveals Exposed Residues in the Ligand-Binding Domain of the Low-Density Lipoprotein Receptor that Interacts with Vesicular Stomatitis Virus-G Envelop... by Faisal A. Al-Allaf, Zainularifeen Abduljaleel, Mohiuddin M. Taher, Ahmed A. H. Abdellatif, Mohammad Athar, Neda M. Bogari, Mohammed N. Al-Ahdal, Futwan Al-Mohanna, Zuhair N. Al-Hassnan, Kamal H. Y. Alzabeedi, Talib M. Banssir, Abdellatif Bouazzaoui

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Modifying inter-cistronic sequence significantly enhances IRES dependent second gene expression in bicistronic vector: Construction of optimised cassette for gene therapy of famili... by Faisal A. Al-Allaf, Zainularifeen Abduljaleel, Mohammad Athar, Mohiuddin M. Taher, Wajahatullah Khan, Huseyin Mehmet, Mukaddes Colakogullari, Sophia Apostolidou, Brian Bigger, Simon Waddington, Charles Coutelle, Michael Themis, Mohammed N. Al-Ahdal, Futwan A. Al-Mohanna, Zuhair N. Al-Hassnan, Abdellatif Bouazzaoui

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Identification of novel genomic imbalances in Saudi patients with congenital heart disease by Zuhair N. Al-Hassnan, Waad Albawardi, Faten Almutairi, Rawan AlMass, Albandary AlBakheet, Osama M. Mustafa, Laila AlQuait, Zarghuna M. A. Shinwari, Salma Wakil, Mustafa A. Salih, Majid Al-Fayyadh, Saeed M. Hassan, Mansour Aljoufan, Osima Al-Nakhli, Brynn Levy, Balsam AlMaarik, Hana A. Al-Hakami, Maysoon Alsagob, Dilek Colak, Namik Kaya

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Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization by Claudine W.B. Ruijmbeek, Filomena Housley, Hafiza Idrees, Michael P. Housley, Jenny Pestel, Leonie Keller, Jason K.H. Lai, Herma C. van der Linde, Rob Willemsen, Janett Piesker, Zuhair N. Al-Hassnan, Abdulrahman Almesned, Michiel Dalinghaus, Lisa M. van den Bersselaar, Marjon A. van Slegtenhorst, Federico Tessadori, Jeroen Bakkers, Tjakko J. van Ham, Didier Y.R. Stainier, Judith M.A. Verhagen, Sven Reischauer

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Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome by Mary E. McQuaid, Kashif Ahmed, Stephanie Tran, Justine Rousseau, Ranad Shaheen, Kristin D. Kernohan, Kyoko E. Yuki, Prerna Grover, Ema S. Dreseris, Sameen Ahmed, Lucie Dupuis, Jennifer Stimec, Mary Shago, Zuhair N. Al-Hassnan, Roch Tremblay, Philipp G. Maass, Michael D. Wilson, Eyal Grunebaum, Kym M. Boycott, François-Michel Boisvert, Sateesh Maddirevula, Eissa A. Faqeih, Fahad Almanjomi, Zaheer Ullah Khan, Fowzan S. Alkuraya, Philippe M. Campeau, Peter Kannu, Eric I. Campos, Hugo Wurtele

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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

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