Arab founder variants: Contributions to clinical genomics and precision medicine.

Autor: AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Maddirevula S; Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Aljamal B; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Hamid H; Department of Zoology, College of Science, King Saud University, Riyadh 11362, Saudi Arabia., Almulhim A; Department of Zoology, College of Science, King Saud University, Riyadh 11362, Saudi Arabia., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Algoos Y; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Albaloshi S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alghamdi M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alduaylij M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Shamseldin HE; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Nadeef S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Patel N; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alshidi T; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Jaafar A; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Abouelhoda M; Department of Computational Science, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alhazzani A; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alfares A; Department of Clinical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Qudair A; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah 23433, Saudi Arabia., Alsulaiman A; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alhashem A; Department of Pediatrics, Prince Sultan Military Medical Center, Riyadh 12233, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Seha Virtual Hospital, Ministry of Health, Riyadh 12382, Saudi Arabia., Khan AO; Eye Institute, Cleveland Clinic, Abu Dhabi, UAE; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH 44195, USA., Chedrawi A; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alebdi B; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., AlAjlan F; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alotaibi F; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alzaidan H; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Banjar H; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Abdelraouf H; Department of Pediatrics, Prince Sultan Military Medical Center, Riyadh 12233, Saudi Arabia., Alkuraya H; Global Eye Care, Specialized Medical Center Hospital, Riyadh 13215, Saudi Arabia., Abumansour I; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah 23433, Saudi Arabia; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah 24382, Saudi Arabia., Alfayez K; Department of Pediatrics, Prince Sultan Military Medical Center, Riyadh 12233, Saudi Arabia., Tulbah M; Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alowain M; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia., Alqahtani M; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., El-Kalioby M; Department of Computational Science, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Shboul M; Department of Medical Laboratory Sciences, Faculty of Medical Sciences, Jordan University of Science and Technology, Irbid 22110, Jordan., Sulaiman R; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Al Tala S; Department of Pediatrics, Armed Forces Hospital, Khamis Mushayt 62413, Saudi Arabia., Khan S; Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Coskun S; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center and College of Medicine, Riyadh 11564, Saudi Arabia., Mrouge S; Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah 23433, Saudi Arabia., Alenazi W; Department of Computational Science, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Rahbeeni Z; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical Center, Riyadh 12233, Saudi Arabia. Electronic address: falkuraya@kfshrc.edu.sa.

Publikováno v: Med (New York, N.Y.) [Med] 2024 Nov 01. Date of Electronic Publication: 2024 Nov 01.

Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.

Autor: Al-Allaf FA; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia; Molecular Diagnostics Unit, Department of Laboratory and Blood Bank, King Abdullah Medical City, Makkah, Saudi Arabia., Athar M; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia., Abduljaleel Z; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia., Bouazzaoui A; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia., Taher MM; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia., Own R; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia., Al-Allaf AF; College of Medicine, Alfaisal University , Riyadh, Saudi Arabia., AbuMansour I; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia., Azhar Z; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia., Ba-Hammam FA; Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia., Abalkhail H; Department of Pediatrics, King Faisal Specialist Hospital and Research Centre , Riyadh, Saudi Arabia., Alashwal A; Department of Pediatrics, King Faisal Specialist Hospital and Research Centre , Riyadh, Saudi Arabia.

Publikováno v: Human genome variation [Hum Genome Var] 2014 Nov 20; Vol. 1, pp. 14021. Date of Electronic Publication: 2014 Nov 20 (Print Publication: 2014).

Synaptic cell adhesion molecules contribute to the pathogenesis and progression of fragile X syndrome.

Autor: Shu-Yuan Bai, De-Yang Zeng, Ming Ouyang, Yan Zeng, Wei Tan, Lang Xu

Publikováno v: Frontiers in Cellular Neuroscience; 2024, p1-16, 16p

Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.

Autor: Almigbal, Turky H., Batais, Mohammed Ali, Hasanato, Rana M., Alharbi, Fawaziah Khalaf, Khan, Imran Ali, Alharbi, Khalid Khalaf

Publikováno v: Acta Biochimica Polonica; 2018, Vol. 65 Issue 3, p415-420, 6p

A Homozygous Missense Variant in the APOB gene in Patients from Hypercholesterolemia Families.

Autor: Ahmed, Samia M.¹ smmohammed@taibahu.edu.sa, Ahmed, Ahmed M.¹, Albalawi, Alia M.², Alharby, Zainab³, Alharby, Essa², Makki, Ahmed S.⁴, Mahmoud, Housham B.⁴, Basit, Sulman²

Publikováno v: Egyptian Academic Journal of Biological Sciences, C Physiology & Molecular Biology. 2019, Vol. 11 Issue 3, p31-37. 7p.