Joshua Clayton

University of Western Australia

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Articles (15)

Collaborators (5)

Alistair Forrest

University of Western Australia

Nigel Laing

University of Western Australia

Elizabeth Quail

University of Western Australia

Gianina Ravenscroft

University of Western Australia

Kathryn North

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

Murdoch Childrens Research Institute

Joshua Clayton

Research Interests

Explore related searches

Contact this professor

Articles (15)

Collaborators (5)

Alistair Forrest

Nigel Laing

Elizabeth Quail

Gianina Ravenscroft

Kathryn North

How do I reach out?

Meet Kite AI

Joshua Clayton

Research Interests

Explore related searches

Contact this professor

Articles (15)

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

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

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

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

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

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

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

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

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

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

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

Neurogenetic fetal akinesia and arthrogryposis

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

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

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

Collaborators (5)

Alistair Forrest

Nigel Laing

Elizabeth Quail

Gianina Ravenscroft

Kathryn North

How do I reach out?

Meet Kite AI