Novel DNMT3A Variant Associated With Multiple Tumors

Authors:

Kheloud M. Alhamoudi *
King Faisal Specialist Hospital and Research Centre

Ali Alzahrani
King Faisal Specialist Hospital and Research Centre

Association between TGF-β1 gene polymorphisms with type 2 diabetes mellitus with or without diabetic kidney disease in Saudi patients

Authors:

Suad Mohammad Muthaffar *
Suad Mohammad Muthaffar

The Role Of Some Chromatin Components In Chromosome Dynamics In Arabidopsis thaliana and Humans

Authors:

Saeed Abdullah Alghamdi *
Prince Sultan Military Medical City; Central Military Laboratory and Blood Bank, Riyadh, SA; Sa-Alghamdi@psmmc.med.sa; School of Biosciences, University of Birmingham, UK

Ahmed Mohammed Aljndbai
Prince Sultan Military Medical City, Central military laboratory and blood bank, Riyadh, Saudi Arabia

Neutral amino acid transporter (ASCT1) deficiency: a novel SLC1A4 compound heterozygous variant causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly with epilepsy

Authors:

Feda E. Mohamed *
Post-doctoral Fellow, Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

Three Pathogenic CFTR Variants In an Asymptomatic Child

Authors:

Alya Qari *
King Faisal Specialist Hospital & Research Center

Zuhair Al-Hassnan
King Faisal Specialist Hospital & Research Center

Novel Homozygous Variant in SLC25A1 Gene in a Saudi Patient

Authors:

Bader Alhaddad *
Molecular Diagnostic Laboratory, King Saud Medical City, Riyadh, KSA

Suzan Alhumaidi
Genetic & Metabolic Unit, Pediatric Hospital, King Saud Medical City, Riyadh, KSA

Sarah Alshehri
Molecular Diagnostic Laboratory, King Saud Medical City, Riyadh, KSA

MYSM1 Deficiency; The Consequence of an Outdated Gene Panel

Authors:

Sarah Alshehri *
Molecular Diagnostic Laboratory, King Saud Medical City, Riyadh, Saudi Arabia

Bader Alhaddad
Molecular Diagnostic Laboratory, King Saud Medical City, Riyadh, Saudi Arabia

Integrative Genomic and Metabolomic approach to diagnose rare Mendelian diseases in Qatar

Authors:

Rulan Shaath *
Department of Human Genetics, Sidra Medicine, Qatar

Reclassification of a homozygous variant in the SPR gene that is implicated in dopa-responsive dystonia due to sepiapterin reductase deficiency

Authors:

Fatma Al Jasmi *
1- Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE 2-Department of Pediatrics, Tawam Hospital, Al Ain, UAE

Mohammed Tabouni
Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE

Neutral amino acid transporter (ASCT1) deficiency: a novel SLC1A4 compound heterozygous variant causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly with epilepsy

Authors:

Feda E. Mohamed *
Post-doctoral Fellow, Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

Hereditary Hyperekplexia in Saudi Arabia

Authors:

AMAL ALDHILAN *
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia

Brahim Tabarki
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia

Afnan Alhakeem
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia

Assessing the Genetic Burden of Familial Hypercholesterolemia in a large Middle Eastern Biobank

Authors:

Khalid Fakhro *
Sidra Medicine, Doha, Qatar Hamad Bin Khalifa University, Doha, Qatar Weill Cornell Medicine - Qatar

Geethanjali Devadoss Gandhi
Sidra Medicine, Doha, Qatar Hamad Bin Khalifa University, Doha, Qatar

THE PSYCHOLOGICAL IMPLICATIONS OF GENETIC COUNSELING AND GENETIC TESTING ON WOMEN WITH BREAST CANCER IN SAUDI ARABIA

Authors:

Alya Qari *
Department of Medical Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

Bashayer AlFozan
Al-Faisal University

Moeen Al-Sayed
Department of Medical Genomics Center for Genomic Medicine King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia