Thomas Nalpathamkalam

This study identifies rare tandem repeat expansions (TREs) in TOF patients, showing their enrichment in regulatory regions and association with DNA methylation and transcriptional changes.

GWAS SVatalog identifies structural variations linked to GWAS loci by visualizing LD between SVs and SNPs across 14,479 phenotypes.

The paper evaluates the role of compound heterozygous deletion events in autism by analyzing 9,766 families and finds modest enrichment of rare DelCH events in autistic individuals.

This study performs an X chromosome-wide association study (XWAS) in ASD, identifying 59 variants associated with ASD, including novel candidate genes like FGF13.

This study uses cancer mutation data and machine learning to predict the pathogenicity of germline missense variants, showing strong performance in identifying disease-causing variants.

The paper develops a genome-wide rare variant score linked to morphological subtypes of ASD and finds higher scores in dysmorphic ASD cases.

The paper investigates the association between gene copy number variation and mental health traits in children, finding links to ADHD, OCD, and cognitive biomarkers.

This study identifies 135 ASD-associated protein-coding genes using whole-genome sequencing data from 11,312 individuals and exome sequencing from over 18,000 trios, with a false discovery rate of 80%.

The paper identifies clinically relevant genetic variants in TOF patients and constructs a protein interaction network linking these variants to disease mechanisms.

This paper identifies ultra-rare variants in NOTCH1 and FLT4 associated with tetralogy of Fallot using burden analysis of genome sequences from 231 individuals.