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List of works by Thomas Nalpathamkalam

Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder

scientific article

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

scientific article

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

scientific article published on 11 July 2013

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Genome-wide characteristics of de novo mutations in autism

scientific article published on August 2016

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

scientific article

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

scientific article published on July 2016

Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

scientific article published on 6 March 2017

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

scientific article

Whole-genome sequencing of quartet families with autism spectrum disorder

scientific article published on 26 January 2015

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