Joshua Clayton at The University of Western Australia - Research Interests, Publications & Academic Profile

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

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Nigel Laing

University of Western Australia

AUSTRALIA

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Elizabeth Quail

University of Western Australia

AUSTRALIA

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Gianina Ravenscroft

University of Western Australia

AUSTRALIA

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Kathryn North

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

Murdoch Childrens Research Institute

AUSTRALIA

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