Publications
Highlighted Publications
Have a look at some of our Publications
Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia
Introduction: Hereditary spastic paraplegia is a clinically and genetically heterogeneous neurological entity that includes more than 80 disorders which share lower limb spasticity as a common feature. Abnormalities in multiple cellular…
The Y chromosome ancestry marker R1b1b2: a surrogate of the SARS-CoV-2 population affinity
Individual and population susceptibilities to disease remain a murky area of investigation, clouded by past bias based on ideological differences and wars. The current SARS-CoV-2 pandemic, the largest in living…
Novel Homozygous Missense Mutation in the ARG1 Gene in a Large Sudanese Family
Background: Arginases catalyze the last step in the urea cycle. Hyperargininemia, a rare autosomal-recessive disorder of the urea cycle, presents after the first year of age with regression of milestones and…
EBV Associated Breast Cancer Whole Methylome Analysis Reveals Viral and Developmental Enriched Pathways
Background: Breast cancer (BC) ranks among the most common cancers in Sudan and worldwide with hefty toll on female health and human resources. Recent studies have uncovered a common BC signature…
Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data
Background The conventional variant calling of pathogenic alleles in exome and genome sequencing requires the presence of the non-pathogenic alleles as genome references. This hinders the correct identification of variants…
Y-chromosome E haplogroups: their distribution and implication to the origin of Afro-Asiatic languages and pastoralism
Archeological and paleontological evidences point to East Africa as the likely area of early evolution of modern humans. Genetic studies also indicate that populations from the region often contain, but…
The Episode of Genetic Drift Defining the Migration of Humans out of Africa Is Derived from a Large East African Population Size
Human genetic variation particularly in Africa is still poorly understood. This is despite a consensus on the large African effective population size compared to populations from other continents. Based on…