The clinical utility of rapid exome sequencing in a consanguineous population.

Autor: Monies, Dorota¹ (AUTHOR), Goljan, Ewa¹ (AUTHOR), Rapid Exome Consortium (AUTHOR), Binmanee, Abdulaziz Mohammed (AUTHOR), Alashwal, Abdullah Ali Zafir (AUTHOR), Alsonbul, Abdullah Mohammed (AUTHOR), Alhussaini, Abdulrahman A. (AUTHOR), Abdallah, Alahmari Ali (AUTHOR), Albenmousa, Ali Hussain (AUTHOR), Almehaidib, Ali Ibrahim (AUTHOR), Hassan, Ali Syed Akhtarul (AUTHOR), Alharbi, Amal Salman Alseraihy (AUTHOR), Alhabib, Amro (AUTHOR), Podda, Antonello (AUTHOR), Alsaleem, Badr (AUTHOR), Al Saud, Bandar Bin Khalid (AUTHOR), Bin Abbas, Bassam Saleh (AUTHOR), Faqeih, Eissa Ali (AUTHOR), Aljofan, Fahad Badei (AUTHOR), Alhazzani, Fahad Naser (AUTHOR)

Publikováno v: Genome Medicine. 6/21/2023, Vol. 15 Issue 1, p1-14. 14p.

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Autor: Goljan, Ewa^1,2 (AUTHOR), Abouelhoda, Mohammed³ (AUTHOR), ElKalioby, Mohamed M.^2,3 (AUTHOR), Jabaan, Amjad² (AUTHOR), Alghithi, Nada² (AUTHOR), Meyer, Brian F.^1,2 (AUTHOR), Monies, Dorota^1,2 (AUTHOR) DMonies@kfshrc.edu.sa

Publikováno v: PLoS ONE. 1/28/2022, Vol. 17 Issue 1, p1-15. 15p.

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.

Autor: Arbide, Daniel, Elkhateeb, Nour, Goljan, Ewa, Gonzalez, Carolina Perez, Maw, Anna, Park, Soo-Mi

Publikováno v: Case Reports in Genetics; 1/2/2024, p1-5, 5p

Large-scale next generation sequencing based analysis of SLCO1B1pharmacogenetics variants in the Saudi population

Autor: Goljan, Ewa, Abouelhoda, Mohammed, Tahir, Asma, ElKalioby, Mohamed, Meyer, Brian, Monies, Dorota

Publikováno v: Human Genomics; December 2024, Vol. 18 Issue: 1

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