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STRetch: detecting and discovering pathogenic short tandem repeat expansions

Genome Biology, 2018-08, Vol.19 (1), p.121-121, Article 121

2018

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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

Brain (London, England : 1878), 2020-10, Vol.143 (10), p.2904-2910

2020

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

Stem cell research, 2024-10, Vol.80, p.103491, Article 103491

2024

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

Stem cell research, 2024-06, Vol.77, p.103411, Article 103411

2024

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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

Stem cell research, 2024-06, Vol.77, p.103410, Article 103410

2024

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

Stem cell research, 2024-03, Vol.75, p.103313-103313, Article 103313

2024

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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

Stem cell research, 2023-12, Vol.73, p.103258-103258, Article 103258

2023

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

Frontiers in immunology, 2022-06, Vol.13, p.901747-901747

2022

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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

Stem cell research, 2022-08, Vol.63, p.102830-102830, Article 102830

2022

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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

Stem cell research, 2021-05, Vol.53, p.102273-102273, Article 102273

2021

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

Skeletal muscle, 2021-09, Vol.11 (1), p.23-23, Article 23

2021

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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

Stem cell research, 2022-08, Vol.63, p.102829-102829, Article 102829

2022

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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

Stem cell research, 2021-08, Vol.55, p.102482-102482, Article 102482

2021

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

Acta neuropathologica communications, 2020-08, Vol.8 (1), p.1-14, Article 142

2020

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

Acta neuropathologica communications, 2020-02, Vol.8 (1), p.18-19, Article 18

2020

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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

Journal of medical genetics, 2021-09, Vol.58 (9), p.609-618

2021

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

Neuromuscular disorders : NMD, 2022-05, Vol.32 (5), p.445-449

2022

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

Human molecular genetics, 2020-01, Vol.29 (1), p.20-30

2020

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Proposed Method for Probabilistic Estimation of Peak Component Acceleration Demands

Earthquake spectra, 2012-02, Vol.28 (1), p.55-75

2012

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Splice variant insertions in the C-terminus impairs YAP's transactivation domain

Biochemistry and biophysics reports, 2016-07, Vol.6, p.24-31

2016

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Adeno-associated virus type 2 in US children with acute severe hepatitis

Nature (London), 2023-05, Vol.617 (7961), p.574-580

2023

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COVID-19 Case Investigation and Contact Tracing in the US, 2020

JAMA network open, 2021-06, Vol.4 (6), p.e2115850-e2115850

2021

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

Neuromuscular disorders : NMD, 2022, Vol.32 (5), p.445-449

2022

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Bird Learning

Cambridge quarterly, 2024-03, Vol.53 (1), p.82-88

Clayton, Joshua

2024

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Diverse Roles of Mitochondria in Immune Responses: Novel Insights Into Immuno-Metabolism

Frontiers in immunology, 2018-07, Vol.9, p.1605-1605

2018

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STRetch: detecting and discovering pathogenic short tandem repeat expansions

A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families

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

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

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

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 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

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

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 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene

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

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

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics

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

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

Proposed Method for Probabilistic Estimation of Peak Component Acceleration Demands

Splice variant insertions in the C-terminus impairs YAP's transactivation domain

Adeno-associated virus type 2 in US children with acute severe hepatitis

COVID-19 Case Investigation and Contact Tracing in the US, 2020

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

Bird Learning

Diverse Roles of Mitochondria in Immune Responses: Novel Insights Into Immuno-Metabolism

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