Tara A. Paton

Toronto, ON, Canada

Last Updated: 09/26/2026

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Found 37 publications

Novel DNASE2 Variants Linked With Neonatal Acute Liver Failure and Monogenic Systemic Lupus Erythematosus.

Novel DNASE2 Variants Linked With Neonatal Acute Liver Failure and Monogenic Systemic Lupus Erythematosus.

Journal: The Journal of rheumatology
Published: May 01, 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

A novel phenotype-guided genome analysis pipeline for variant discovery.

A novel phenotype-guided genome analysis pipeline for variant discovery.

Journal: NPJ genomic medicine
Published: October 06, 2025

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

An X-linked long non-coding RNA, PTCHD1-AS, and the core features of autism.

Journal: Nature
Published: December 10, 2024

Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics.

Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics.

Journal: Scientific reports
Published: February 27, 2024

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication.

Autosomal-dominant macular dystrophy linked to a chromosome 17 tandem duplication.

Journal: JCI insight
Published: December 21, 2023

Analysis of prognostic germline polymorphisms in patients with advanced hepatocellular carcinoma.

Analysis of prognostic germline polymorphisms in patients with advanced hepatocellular carcinoma.

Journal: Translational gastroenterology and hepatology
Published: March 14, 2023

KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.

KIF1A novel frameshift variant p.(Ser887Profs*64) exhibits clinical heterogeneity in a Pakistani family with hereditary sensory and autonomic neuropathy type IIC.

Journal: The International journal of neuroscience
Published: October 25, 2022

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa.

Journal: Clinical genetics
Published: May 07, 2022

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Genomic architecture of autism from comprehensive whole-genome sequence annotation.

Journal: Cell
Published: May 05, 2022

Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.

Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care Setting.

Journal: JAMA network open
Published: May 26, 2021

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 03, 2020
Showing 1-12 of 37

Last Updated: 09/26/2026