Jacob E. Munro

Parkville, VIC, Australia

Last Updated: 09/26/2026

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Found 26 publications

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: May 07, 2026

PET-CT benchmarked detection and 5-year progression of asymptomatic tuberculosis: a longitudinal, prospective cohort study.

PET-CT benchmarked detection and 5-year progression of asymptomatic tuberculosis: a longitudinal, prospective cohort study.

Journal: The Lancet. Respiratory medicine

Published: July 17, 2025

Understanding Plasmodium vivax recurrent infections using an amplicon deep sequencing assay, identity-by-descent and model-based classification.

Understanding Plasmodium vivax recurrent infections using an amplicon deep sequencing assay, identity-by-descent and model-based classification.

Journal: iScience

Published: June 13, 2025

Understanding Plasmodium vivax recurrent infections using an amplicon deep sequencing assay, PvAmpSeq, identity-by-descent and model-based classification.

Understanding Plasmodium vivax recurrent infections using an amplicon deep sequencing assay, PvAmpSeq, identity-by-descent and model-based classification.

Journal: medRxiv : the preprint server for health sciences

Published: June 10, 2025

Extreme Genetic Diversity and Signatures of Balancing Selection in Plasmodium vivax Blood-Stage Antigens.

Extreme Genetic Diversity and Signatures of Balancing Selection in Plasmodium vivax Blood-Stage Antigens.

Journal: The Journal of infectious diseases

Published: April 07, 2025

The E3-ome gene-centric compendium reveals the human E3 ligase landscape.

The E3-ome gene-centric compendium reveals the human E3 ligase landscape.

Journal: Cell

Published: February 16, 2025

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy.

Journal: Brain communications

Published: January 19, 2025

TBtypeR: Sensitive detection and sublineage classification of Mycobacterium tuberculosis complex mixed-strain infections.

TBtypeR: Sensitive detection and sublineage classification of Mycobacterium tuberculosis complex mixed-strain infections.

Journal: Communications biology

Published: August 23, 2024

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Journal: Orphanet journal of rare diseases

Published: August 09, 2023

High resolution imaging and five-year tuberculosis contact outcomes.

High resolution imaging and five-year tuberculosis contact outcomes.

Journal: medRxiv : the preprint server for health sciences

Published: July 18, 2023

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.

Journal: American journal of human genetics

Published: June 02, 2023

AmpSeqR: an R package for amplicon deep sequencing data analysis.

AmpSeqR: an R package for amplicon deep sequencing data analysis.

Journal: F1000Research

Published: March 23, 2023

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Last Updated: 09/26/2026