Hayley Goullee

Kensington, WA, Australia

Last Updated: 09/26/2026

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Found 17 publications

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Journal: Acta neuropathologica

Published: September 15, 2022

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Journal: Brain : a journal of neurology

Published: June 04, 2021

Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel.

Improved CRISPR/Cas9 gene editing in primary human myoblasts using low confluency cultures on Matrigel.

Journal: Skeletal muscle

Published: November 05, 2020

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Journal: Molecular diagnosis & therapy

Published: September 05, 2020

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.

Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy.

Journal: Acta neuropathologica communications

Published: June 22, 2020

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 04, 2020

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

Journal: Acta neuropathologica communications

Published: December 11, 2019

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.

A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.

Journal: Journal of medical genetics

Published: August 09, 2019

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

Journal: Human molecular genetics

Published: April 29, 2019

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

Journal: Neurology. Genetics

Published: May 25, 2018

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Bi-allelic mutations in MYL1 cause a severe congenital myopathy.

Journal: Human molecular genetics

Published: March 14, 2018

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Early-onset Parkinson disease caused by a mutation in CHCHD2 and mitochondrial dysfunction.

Journal: Neurology. Genetics

Published: February 28, 2018

Showing 1-12 of 17

Last Updated: 09/26/2026