[HTML][HTML] Potential causes of male and female infertility in Qatar

G Zauner, G Girardi - Journal of Reproductive Immunology, 2020 - Elsevier
A steady decline in the fertility rate has been observed in Qatar during the past fifty years.
Therefore, infertility is considered a national priority in Qatar, a pronatalist society. This …

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

RM Razali, J Rodriguez-Flores, M Ghorbani… - Nature …, 2021 - nature.com
Arab populations are largely understudied, notably their genetic structure and history. Here
we present an in-depth analysis of 6,218 whole genomes from Qatar, revealing extensive …

A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females

S Hussain, S Nawaz, I Khan, N Khan, S Hussain… - European Journal of …, 2022 - Elsevier
Infertility is a common, clinically heterogeneous reproductive disorder worldwide with a
prevalence of about 15%. To date about eighty genes have been discovered to cause non …

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

SI Da'as, W Aamer, W Hasan, A Al-Maraghi, A Al-Kurbi… - Cells, 2020 - mdpi.com
Recessive mutations in Post-GPI attachment to proteins 3 (PGAP3) cause the rare
neurological disorder hyperphosphatasia with mental retardation syndrome 4 type …

Genomic medicine in the Middle East

AN Abou Tayoun, KA Fakhro, A Alsheikh-Ali… - Genome Medicine, 2021 - Springer
We discuss the current state of genomic medicine in Arab countries of the Middle East, a
region with outsized contribution to Mendelian genetics due to inbreeding yet has poor …

Burden of Mendelian disorders in a large Middle Eastern biobank

W Aamer, A Al-Maraghi, N Syed, GD Gandhi, E Aliyev… - Genome Medicine, 2024 - Springer
Background Genome sequencing of large biobanks from under-represented ancestries
provides a valuable resource for the interrogation of Mendelian disease burden at world …

A variant in sperm‐specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility

S Nawaz, S Hussain, M Bilal, N Syed… - The Journal of Gene …, 2024 - Wiley Online Library
Background Although defects in sperm morphology and physiology lead to male infertility, in
many instances, the exact disruption of molecular pathways in a given patient is often …

Ultra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours

D Bamborschke, Ö Özdemir, M Kreutzer… - American Journal of …, 2021 - Wiley Online Library
Genetic diseases are a major cause of neonatal morbidity and mortality. The clinical
differential diagnosis in severely ill neonates, especially in premature infants, is challenging …

Human Spermatogenesis: Insights From the Clinical Care of Men With Infertility

PN Schlegel - Frontiers in Endocrinology, 2022 - frontiersin.org
Human spermatogenesis is a qualitatively and quantitatively different process than that
observed for most other mammals. In contrast with most other mammals, human …

[HTML][HTML] Heterogeneity in biomarkers, mitogenome and genetic disorders of the Arab population with special emphasis on large-scale whole-exome sequencing

JF Borgio - Archives of Medical Science: AMS, 2023 - ncbi.nlm.nih.gov
More than 25 million DNA variations have been discovered as novel including major alleles
from the Arab population. Exome studies on the Saudi genome discovered> 3000 novel …