Ahmad N. Abou Tayoun

A Comparative Survey of Functional Evidence Use in Hearing and Vision Loss Genetics

The paper surveys genetics professionals on their use of functional evidence in variant classification for hearing and vision loss, highlighting challenges in data quality, accessibility, and integration into clinical practice.

VDB: The Arab Variation and Disease Burden Database

The paper introduces AVDB, a database of genetic variants from Arab populations, providing pathogenicity classifications and disease burden metrics to improve genomic screening and diagnostics.

A draft Arab pangenome reference

The paper presents the first Arab Pangenome Reference using long-read and Hi-C data, revealing novel sequences and variants specific to Arab populations.

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

The paper calibrates three new computational tools for clinical variant classification, finding they provide evidence strength comparable to previously recommended tools.

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.

A dual-mode targeted Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis

The paper develops a PCR/Nanopore sequencing assay for comprehensive SMN1 and SMN2 variant analysis with high accuracy and scalability.

IFIH1 loss-of-function predisposes to inflammatory and SARS-CoV-2-related infectious diseases

This study identifies IFIH1 loss-of-function variants in patients with inflammatory and SARS-CoV-2-related diseases, showing impaired immune responses and increased susceptibility.

GENETIC COUNSELING IN THE MIDDLE EAST

This study surveys healthcare professionals in the Middle East to understand challenges and perspectives on genetic counseling and testing, finding cultural and resource-related barriers and positive patient attitudes.

A Draft Human Pangenome Reference

The paper presents a draft human pangenome reference that improves variant discovery and structural variant detection compared to existing references.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with critical COVID-19

The paper identifies rare loss-of-function variants in type I IFN immunity genes associated with severe COVID-19, particularly in younger patients with recessive inheritance.

The Genomic Landscape of Rare Disorders in the Middle East

This study evaluates genomic diagnostic yield and clinical impact in rare disease patients from the Middle East, finding higher yields with sequencing than microarrays and highlighting diagnostic delays due to limited access.

Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients

This study identifies rare genetic variants associated with severe COVID-19 in young Asian and Middle Eastern patients using whole exome sequencing.

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

Comprehensive simulation and interpretation of single nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

The paper interprets all possible single-nucleotide substitution variants in the GJB2 gene, classifies them by pathogenicity, and identifies genotype-phenotype correlations in hearing loss.

Genomic and phenotypic characterization of Multisystem Inflammatory Syndrome in Children (MIS-C): a prospective multicenter study from the Middle East

This study identifies rare genetic variants in MIS-C patients from the Middle East, linking them to disease onset and treatment resistance.

Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome

The paper highlights the importance of Middle Eastern genetic variation in improving clinical genome annotation and variant interpretation by presenting a new database with unique variants not found in existing resources.

Evaluating the impact of in silico predictors on clinical variant classification

This study evaluates how in silico predictors influence clinical variant classification, finding that PP3 and BP4 criteria are frequently applied and often affect variant classifications.

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss

VIP-HL semi-automates ACMG/AMP variant interpretation for genetic hearing loss, achieving high concordance with expert panels and available as a web tool.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

The paper curates 157 variants in hearing loss genes using disease-specific ACMG/AMP guidelines, resolving 69% of discordant variants and 24% of VUS variants into clear classifications.

The Genomic Landscape of Pediatric Rheumatology Disorders in the Middle East

This study performs genomic analysis on pediatric rheumatology patients in the Middle East, finding that comprehensive sequencing identifies pathogenic variants in multiple genes, with MEFV and IFIH1 being significant contributors.

Host transcriptomic profiling of COVID-19 patients with mild, moderate, and severe clinical outcomes

The paper identifies molecular signatures and dysregulated pathways in COVID-19 patients with varying disease severity using transcriptome sequencing of nasopharyngeal swabs.

Multiple early introductions of SARS-CoV-2 into a global travel hub in the Middle East

The paper analyzes SARS-CoV-2 genome sequences from Dubai to show multiple introductions from Asia, Europe, and the Middle East during the early pandemic and identifies new mutations.

SARS-CoV-2 Whole Genome Amplification and Sequencing for Effective Population-Based Surveillance and Control of Viral Transmission

This study compares whole genome sequencing methods for SARS-CoV-2, showing improved detection and cost-effectiveness with target enrichment.

Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA-sequencing

The paper demonstrates that RNA-seq of B lymphoblastoid cell lines can effectively diagnose neurodevelopmental disorders, including Cornelia de Lange syndrome, with high sensitivity.

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

The paper provides structured recommendations for applying the PS3/BS3 functional evidence criteria in variant interpretation using the ACMG/AMP framework, including a four-step framework and minimum control requirements.

Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing

The paper presents a machine learning classifier to identify true somatic variants from next-generation sequencing data, achieving high specificity and sensitivity with minimal uncertainty.

Ca2+-activated K+ channels reduce network excitability, improving adaptability and energetics for transmitting and perceiving sensory information

The paper investigates how Ca2+-activated K+ channels affect network excitability and sensory perception in Drosophila mutants, showing their role in improving adaptability and reducing energy costs.

Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing datasets

The paper introduces a disease-specific variant pathogenicity predictor trained on clinical sequencing data from cardiomyopathy, epilepsy, and RASopathies patients.

Consensus interpretation of the Met34Thr and Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

The paper resolves the classification of two GJB2 variants as pathogenic for autosomal recessive nonsyndromic hearing loss through expert consensus.

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

The paper curates 164 gene-disease pairs for hearing loss, classifying their clinical validity to improve genetic testing accuracy.