Rhonda L. Taylor

Nedlands, WA, Australia

Last Updated: 09/26/2026

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Found 25 publications

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

Journal: Stem cell research
Published: March 26, 2024

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 adult central core disease patients with dominant missense variants in the RYR1 gene.

Journal: Stem cell research
Published: March 26, 2024

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

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

Journal: Stem cell research
Published: March 01, 2024

An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.

An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.

Journal: Human mutation
Published: January 17, 2024

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Journal: Brain : a journal of neurology
Published: December 14, 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.

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.

Journal: Stem cell research
Published: October 04, 2023

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

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

Journal: Stem cell research
Published: August 01, 2023

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

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

Journal: Human molecular genetics
Published: June 10, 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.

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.

Journal: Stem cell research
Published: April 02, 2022

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 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.

Journal: Stem cell research
Published: April 02, 2022

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

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

Journal: Frontiers in immunology
Published: March 22, 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
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Last Updated: 09/26/2026