Exploring the Significance of Publication-Age-Based Parameters for Evaluating Researcher Impact by Ghulam Mustafa (458105)

“…<p dir="ltr">In the modern era, bibliometric parameters have become crucial components in evaluating academic productivity. In the last three decades, the scientific community has suggested a variety of bibliometric parameters to rank researchers, such as publication count, citation count, author count, h-index, and its variants. …”

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants by Amal Elfatih (14778550)

“…Variants were categorized into one of the following groups: (1) Pathogenic (P), (2) Likely pathogenic (LP), and (3) Rare variants of uncertain significance with evidence of pathogenicity. …”

A systematic search for DNA methyltransferase polymorphisms reveals a rare DNMT3L variant associated with subtelomeric hypomethylation by El Maarri, Osman

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The distribution of toxic sources in Louisiana by Djoundourian, Salpie Sarkis

“…The results reveal that income levels in communities that host toxic sources are consistently and significantly lower than the state averages. …”
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SARS-CoV-2 Variants in Lebanon by Al Kodsi, Ibrahim

“…The phylogenetic analysis revealed travel transmission of XAY.1 and XCC, and local introductions of mutations upon circulation. This study is significant for its role in detecting and analyzing the variants and mutations that have influenced the course of the pandemic. …”
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The prevalence of extensor digitorum brevis manus and its variants in humans by Yammine, K.

“…Extensor digitorum brevis manus (EDBM) is a rare variant extensor muscle of the dorsum of the hand, which constitutes a diagnostic challenge in clinical practice. …”
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The prevalence of the extensor digiti minimi tendon of the hand and its variants in humans by Yammine, Kaissar

“…For the double-slip EDM, the frequencies were such that Japanese > North Americans = Europeans > Middle Eastern > Indians. No significance was found with regard to hand side. The true EDMQ prevalence was found to be at 7.3 %, whereas its crude prevalence was 8 %. …”
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Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants by Mohannad N. Khandakji (13885434)

“…<h3>Background</h3><p dir="ltr">Existing BRCA2-specific variant pathogenicity prediction algorithms focus on the prediction of the functional impact of a subtype of variants alone. …”

Exome sequence analysis of rare frequency variants in Late-Onset Alzheimer Disease by Sudharsana Sundarrajan (3181371)

“…The variants in the ALDH3A2 and RAD54B genes were pathogenic, while in 15 other genes were predicted to be variants of unknown significance. …”

Patterns and distribution of de novo mutations in multiplex Middle Eastern families by Muhammad Kohailan (748774)

Host Genetic Variants Potentially Associated With SARS-CoV-2: A Multi-Population Analysis by Maria K. Smatti (4675852)

“…Remarkably, Africans seem to carry extremely lower frequencies of SARS-CoV-1 susceptibility alleles, reaching to 32-fold decrease compared to other populations.</p><h3>Conclusion</h3><p dir="ltr">Multiple genetic variants, which could potentially modulate SARS-CoV-2 infection, are significantly variable between populations, with the lowest frequency observed among Africans. …”

Lack of replication of common EXT2 gene variants with susceptibility to type 2 diabetes in Lebanese Arabs by Nemr, R.

“…While the three tested EXT2 variants were not associated with T2DM in obese subjects, rs1113132 and rs11037909, but not rs3740878, were associated with T2DM in non-obese subjects. …”
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ALOX5AP gene variants show differential association with coronary artery disease in different populations by Alwan, Ahmad

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Novel Synonymous Variant in<i> IL7R</i> Causes Preferential Expression of the Soluble Isoform by Rafah Mackeh (14151225)

“…The objective here was to diagnose two siblings displaying the T⁻B⁺NK⁺ SCID phenotype as initial clinical genetic testing did not detect any variants in known SCID genes.</p><h3>Methods</h3><p dir="ltr">Whole genome sequencing (WGS) was utilized to identify potential variants causing the SCID phenotype. …”

Strong association of common variants in the IGF2BP2 gene with type 2 diabetes in Lebanese Arabs by Nemr, Rita

“…Results T allele of rs440960 (P = 6.5 × 10−6) and C allele of rs1470579 (P = 5.3 × 10−4) were significantly associated with T2DM; both SNPs were in strong LD (D′ = 0.83, r2 = 0.58). …”
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Neonatal autoimmune lymphoproliferative syndrome with a novel pathogenic homozygous FAS variant effectively treated with sirolimus: Case report by Fawzia M. Elgharbawy (17045534)

“…</p><h3>Case presentation</h3><p dir="ltr">We herein report a case of a newborn boy with a novel germline homozygous variant identified in the FAS gene, exon 9, c.775del, which was considered pathogenic. …”

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs by Kholoud N. Al‐Shafai (18459009)

“…</p><h3>Conclusion</h3><p dir="ltr">We identified or replicated at least four recurrent variants among cardiomyopathy patients, which could be founder disease mutations in the Arabic population, including a frameshift variant (c.1371_1381dupTATCCAGTTAT) of unknown significance in the FKTN gene which seems to cause DCM in homozygosity, and HCM in heterozygosity. …”

Comparative analysis of within-host diversity among vaccinated COVID-19 patients infected with different SARS-CoV-2 variants by Hebah A., Al-Khatib

“…A deep analysis revealed a significantly higher intra-host diversity in Omicron samples than in other variants (p value < 0.05). …”
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Description of PTPRG genetic variants identified in a cohort of Chronic Myeloid Leukemia patients and their ability to influence response to Tyrosine kinase Inhibitors by Mohamed A. Ismail (418629)

“…Sequencing identified ten variants, seven were annotated and three were novel SNPs (c.1602_1603insC, c.85+14412delC, and c.2289-129delA). …”

Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review by Salma Younes (6424865)

“…Despite numerous genetic association studies, the complex relationships between genotype and phenotype in MSUD remain elusive.</p><h3>Aim</h3><p dir="ltr">This study aimed to systematically review the variants significantly associated with MSUD in the MENAT region.…”