Mohammed Faruq

The paper identifies FGF14 GAA repeat expansions in ALS patients, showing enrichment compared to controls and suggesting a broader pathogenic role in motor neuron disease.

This study analyzes genetic diversity in Thar Desert communities, revealing migration, cultural influences, and admixture shaping their genetic landscape.

The paper presents a comprehensive genomic atlas of Indian populations, identifying novel variants and highlighting genetic diversity and pharmacogenomic implications.

This paper describes a method using Oxford Nanopore Technology to simultaneously detect tandem nucleotide repeats and SNVs in hereditary ataxias.

This study identifies molecular signatures of SCA12 by analyzing patient-derived neuronal cell lines and shows CAG repeat expansion leads to RNA foci and RAN translation.

The paper investigates the prevalence and association of RFC1 tandem nucleotide repeat expansions with neurodegenerative diseases in an Indian cohort.

The paper combines computational and experimental methods to identify CNG repeat loci potentially linked to spinocerebellar ataxias, finding polymorphic patterns and expression in brain-related genes.

This study investigates anastrozole's effect on mitochondrial permeability transition pore (mPTP) by molecular docking, dynamics, and cell experiments, finding it more effective than cyclosporine A in inhibiting mPTP and improving mitochondrial function.

The paper introduces a method for accurately estimating GAA repeats in Friedreich ataxia using long-read targeted sequencing, achieving high coverage and throughput.

The paper analyzes intra-host Single Nucleotide Variations (iSNVs) in SARS-CoV-2 genomes across multiple time points and regions, finding that many iSNVs later become population-level variants and some may contribute to immune escape.

The paper reports sequencing of the SARS-CoV-2 omicron variant in 13 Indian patients using Oxford Nanopore Minion technology to analyze 34 spike glycoprotein mutations.

This study evaluates the COVIDSeq protocol for SARS-CoV-2 detection and genetic epidemiology, showing high concordance with RT-PCR and identifying novel variants and lineages.

This study establishes iPSC-derived neuronal cell lines for SCA12, identifies interferon signaling and inflammatory signatures as key transcriptomic features.