Amal Abdulsalam Ibrahim, Extern at Sidra Medicine, shared a post on LinkedIn:
“I am excited to share our new publication! The first long-read sequencing clinical finding published from Qatar, highlighting its utility in genetic diagnostics.
A huge thank you to Sidra Medicine, my mentor Prof. Khalid A. Fakhro and our amazing team who have been part of this work — Waleed Aamer, Elbay Aliyev, Aljazi Al-Maraghi, Najeeb Ashraf Syed, Dr. Ammira Al-Shabeeb AKIL, Mona Abdi, Saba Elhag, Elhag and all other co-authors, as well as the Genomics Core, and the patients and families who make this work possible.”
Title: Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report
Authors: Amal Abdulsalam Ibrahim, Waleed Aamer, Elbay Aliyev, Aljazi Al-Maraghi, Saba F. Elhag, Mona Abdi, Najeeb Syed, Sasirekha Palaniswamy, Ammira S. A. Akil, Madeeha Kamal, Khalid A. Fakhro
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