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Article
Open AccessRare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants map** to the sour taste-associated gene KCNJ2 with reduced low-d...
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Article
Open AccessConserved genes regulating human sex differentiation, gametogenesis and fertilization
The study of the functional genome in mice and humans has been instrumental for describing the conserved molecular mechanisms regulating human reproductive biology, and for defining the etiologies of monogenic...
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Article
Open AccessA loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review
Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin o...
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Article
Open AccessBurden of Mendelian disorders in a large Middle Eastern biobank
Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familia...
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Article
Open AccessBiallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous dis...
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Article
Open AccessValidation of plasma protein glycation and oxidation biomarkers for the diagnosis of autism
Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder in children. It is currently diagnosed by behaviour-based assessments made by observation and interview. In 2018 we reported a discovery s...
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Article
Open AccessGenomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children ...
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Article
Open AccessAn integrated tumor, immune and microbiome atlas of colon cancer
The lack of multi-omics cancer datasets with extensive follow-up information hinders the identification of accurate biomarkers of clinical outcome. In this cohort study, we performed comprehensive genomic anal...
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Article
Open AccessThe link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature
Type 2 diabetes (T2D) is a critical healthcare challenge and priority in Qatar which is listed amongst the top 10 countries in the world, with its prevalence presently at 17% double the global average. MicroRN...
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Article
Open AccessAssessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank
The genetic architecture underlying Familial Hypercholesterolemia (FH) in Middle Eastern Arabs is yet to be fully described, and approaches to assess this from population-wide biobanks are important for public...
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Article
Open AccessThe immune landscape of solid pediatric tumors
Large immunogenomic analyses have demonstrated the prognostic role of the functional orientation of the tumor microenvironment in adult solid tumors, this variable has been poorly explored in the pediatric cou...
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Article
Open AccessThe QChip1 knowledgebase and microarray for precision medicine in Qatar
Risk genes for Mendelian (single-gene) disorders (SGDs) are consistent across populations, but pathogenic risk variants that cause SGDs are typically population-private. The goal was to develop “QChip1,” an in...
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Chapter
Genes and Specific (Related) Proteins in Neurodevelopmental Disorders
Neurodevelopmental disorders (NDDs) represent a group of heterogeneous disabilities characterized by impaired cognition, memory, learning abilities, self-control, and psychomotor skills. NDDs encompass many ra...
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Article
Open AccessGenomic medicine in the Middle East
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 representation in global variome ...
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Article
Open AccessThousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes
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 diversity as well as genetic ...
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Article
Open AccessDiagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era
Type 1 diabetes affects millions of people globally and requires careful management to avoid serious long-term complications, including heart and kidney disease, stroke, and loss of sight. The type 1 diabetes ...
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Article
Open AccessEthnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank
Studies assessing the impact of amylase genes copy number (CN) on adiposity report conflicting findings in different global populations, likely reflecting the impact of ancestral and ethnic-specific environmen...
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Article
Open AccessA map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
Copy number variation (CNV) is considered as the most frequent type of structural variation in the human genome. Some CNVs can act on human phenotype diversity, encompassing rare Mendelian diseases and genomic...
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Chapter
Genetic Evaluation of Male Infertility
Male infertility affects 7% of all men worldwide, yet for the majority the underlying cause is not found. From the very first identified karyoty** abnormalities to the very recent discovery of point mutation...
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Chapter
Genomics of Autism
Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social interactions, repetitive behavior and a widely variable spectrum of comorbidities. Th...
