Bhooma Thiruvahindrapuram

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 100 publications

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

Journal: medRxiv : the preprint server for health sciences

Published: May 07, 2026

PangyPlot: multi-scale interactive visualization of pangenome variation graphs.

PangyPlot: multi-scale interactive visualization of pangenome variation graphs.

Journal: Bioinformatics (Oxford, England)

Published: April 24, 2026

Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada's national platform for genome sequencing and analysis.

Benchmarking of Oxford Nanopore whole genome sequencing for germline variant and CpG methylation detection across Canada's national platform for genome sequencing and analysis.

Journal: Frontiers in genetics

Published: April 22, 2026

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 27, 2026

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: March 27, 2026

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Journal: Research square

Published: December 08, 2025

Determinants of pleiotropy and monotonic gene dosage responses across human traits.

Determinants of pleiotropy and monotonic gene dosage responses across human traits.

Journal: Research square

Published: December 03, 2025

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Mirror effect of genomic deletions and duplications on cognitive ability across the human cerebral cortex.

Journal: bioRxiv : the preprint server for biology

Published: November 26, 2025

A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits.

A cross-disorder analysis of CNVs finds novel loci and dose-dependent relationships of genes to psychiatric traits.

Journal: medRxiv : the preprint server for health sciences

Published: August 12, 2025

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.

Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects.

Journal: medRxiv : the preprint server for health sciences

Published: August 12, 2025

Gene dosage architecture across complex traits.

Gene dosage architecture across complex traits.

Journal: medRxiv : the preprint server for health sciences

Published: March 10, 2025

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.

UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literature.

Journal: NPJ genomic medicine

Published: March 05, 2025

Showing 1-12 of 100

Last Updated: 09/26/2026