Joshua Clayton

University of Western Australia

Australia

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Research Interests

Cell Biology

100%

Tissue Engineering

100%

Medical Science

100%

Stem Cell Biology

70%

Genome Engineering

70%

Cell Reprogramming

40%

Rare Disease

40%

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Articles15

Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant

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Year:

2024

Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene

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Year:

2024

Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene

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Year:

2024

Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing

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Year:

2024

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

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Year:

2023

Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene

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Year:

2023

Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene

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Year:

2022

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

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Year:

2022

Regulatory Architecture of the RCA Gene Cluster Captures an Intragenic TAD Boundary, CTCF-Mediated Chromatin Looping and a Long-Range Intergenic Enhancer

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Year:

2022

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

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Year:

2022

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

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Year:

2021

Neurogenetic fetal akinesia and arthrogryposis

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Year:

2021

Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene

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Year:

2021

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

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Year:

2021

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Article Link

Year:

2021

Collaborators5

Alistair Forrest

University of Western Australia

AUSTRALIA

Nigel Laing

University of Western Australia

AUSTRALIA

Elizabeth Quail

University of Western Australia

AUSTRALIA

Gianina Ravenscroft

University of Western Australia

AUSTRALIA

Kathryn North

Group Leader, Neuromuscular Research; Chief Investigator, Australian Genomic Health Alliance

Murdoch Childrens Research Institute

AUSTRALIA

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