Mathew Varghese

The paper analyzes allelic diversity and CAG repeat instability in HD patients from India, finding a strong inverse correlation between repeat length and age at onset, and reporting de novo expansions.

This study uses whole exome sequencing in families with multiple affected individuals to identify rare variants in genes associated with both Mendelian and complex neuropsychiatric syndromes.

This study determines the minimum sample size needed for multisite harmonization using structural brain MRI features and shows how sample size requirements increase with site variability.

The paper analyzes whole exome sequencing data from individuals with severe mental illness to identify genes under positive selection and their biological functions.

The paper examines haplogroups at the HTT locus in an Indian population, finding significant genotype frequency differences between HD cases and controls, with Haplogroup A being predominant.

The paper examines the relationship between adverse childhood experiences (ACEs) and the age of onset of psychiatric diagnoses in individuals from families with multiple affected members.

The paper develops a database of coding variations from the Indian population to aid in understanding genotype-phenotype correlations and disease mechanisms.