Michaela Yuen

214 Hawkesbury Road
Westmead, NSW 2145, Australia

Last Updated: 09/26/2026

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Found 19 publications

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.

Journal: Acta neuropathologica

Published: March 29, 2026

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Pyroxd1 is essential for murine viability with the homozygous N155S recurrent variant linked to myopathy, muscle hypotrophy and osteopenia.

Journal: Acta neuropathologica communications

Published: November 10, 2025

Lmod2 is necessary for effective skeletal muscle contraction.

Lmod2 is necessary for effective skeletal muscle contraction.

Journal: Science advances

Published: March 13, 2024

KBTBD13 is an actin-binding protein that modulates muscle kinetics.

KBTBD13 is an actin-binding protein that modulates muscle kinetics.

Journal: The Journal of clinical investigation

Published: February 01, 2024

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.

Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint.

Journal: European journal of human genetics : EJHG

Published: December 05, 2023

High-Throughput Contractile Measurements of Hydrogel-Embedded Intact Mouse Muscle Fibers Using an Optics-Based System.

High-Throughput Contractile Measurements of Hydrogel-Embedded Intact Mouse Muscle Fibers Using an Optics-Based System.

Journal: Journal of visualized experiments : JoVE

Published: May 22, 2023

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.

Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.

Journal: Frontiers in neurology

Published: October 05, 2022

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.

Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone.

Journal: HGG advances

Published: April 20, 2022

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.

Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant.

Journal: European journal of human genetics : EJHG

Published: November 02, 2021

Nebulin: big protein with big responsibilities.

Nebulin: big protein with big responsibilities.

Journal: Journal of muscle research and cell motility

Published: August 21, 2019

KBTBD13 is an actin-binding protein that modulates muscle kinetics.

KBTBD13 is an actin-binding protein that modulates muscle kinetics.

Journal: The Journal of clinical investigation

Published: August 16, 2018

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Journal: Annals of neurology

Published: July 17, 2017

Showing 1-12 of 19

Last Updated: 09/26/2026