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Splice Modulating Therapies for Human Disease

Cell, 2012-03, Vol.148 (6), p.1085-1088

2012

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Multiomic characterization of disease progression in mice lacking dystrophin

PloS one, 2023-03, Vol.18 (3), p.e0283869-e0283869

2023

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Plasma lipidomic analysis shows a disease progression signature in mdx mice

Scientific reports, 2021-06, Vol.11 (1), p.12993-12993, Article 12993

2021

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Histone deacetylase inhibitors improve antisense-mediated exon-skipping efficacy in mdx mice

Molecular therapy. Nucleic acids, 2022-12, Vol.30, p.606-620

2022

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Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

EMBO molecular medicine, 2014-07, Vol.6 (7), p.918-936

2014

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Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

Journal of cachexia, sarcopenia and muscle, 2020-04, Vol.11 (2), p.505-517

2020

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Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients

EMBO molecular medicine, 2021-04, Vol.13 (4), p.e13328-n/a

2021

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The mRNA Binding Proteome of Proliferating and Differentiated Muscle Cells

Genomics, proteomics & bioinformatics, 2020-08, Vol.18 (4), p.384-396

2020

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A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

PloS one, 2018-10, Vol.13 (10), p.e0204485-e0204485

2018

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Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies

Journal of cachexia, sarcopenia and muscle, 2018-08, Vol.9 (4), p.715-726

2018

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Negative Binomial mixed models estimated with the maximum likelihood method can be used for longitudinal RNAseq data

Briefings in bioinformatics, 2021-07, Vol.22 (4)

2021

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Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Proteomics. Clinical applications, 2014-04, Vol.8 (3-4), p.269-278

2014

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Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice

PLoS currents, 2013-11, Vol.5

2013

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A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

BMC genomics, 2008-11, Vol.9 (1), p.572-572, Article 572

2008

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Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy

Laboratory investigation, 2010-09, Vol.90 (9), p.1396-1402

2010

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Poisson–Tweedie mixed-effects model: A flexible approach for the analysis of longitudinal RNA-seq data

Statistical modelling, 2021-12, Vol.21 (6), p.520-545

2021

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The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

BMC medical genetics, 2012-03, Vol.13 (1), p.20-20, Article 20

2012

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Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models

Human molecular genetics, 2020-03, Vol.29 (5), p.745-755

2020

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Premature termination codons in the DMD gene cause reduced local mRNA synthesis

Proceedings of the National Academy of Sciences - PNAS, 2020-07, Vol.117 (28), p.16456-16464

2020

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Pathway testing for longitudinal metabolomics

Statistics in medicine, 2021-06, Vol.40 (13), p.3053-3065

2021

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Simultaneous Enrichment Analysis of all Possible Gene-sets: Unifying Self-Contained and Competitive Methods

Briefings in bioinformatics, 2020-07, Vol.21 (4), p.1302-1312

2020

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Biomarkers of Duchenne muscular dystrophy: current findings

Degenerative Neurological and Neuromuscular Disease, 2018-01, Vol.8, p.1-13

2018

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Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice

Methods in molecular biology (Clifton, N.J.), 2018, Vol.1828, p.249

2018

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Penalized regression calibration: A method for the prediction of survival outcomes using complex longitudinal and high‐dimensional data

Statistics in medicine, 2021-11, Vol.40 (27), p.6178-6196

2021

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Circulating Biomarkers for Duchenne Muscular Dystrophy

Journal of Neuromuscular Diseases, 2015-07, Vol.2 (s2), p.S49-S58

2015

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Splice Modulating Therapies for Human Disease

Multiomic characterization of disease progression in mice lacking dystrophin

Plasma lipidomic analysis shows a disease progression signature in mdx mice

Histone deacetylase inhibitors improve antisense-mediated exon-skipping efficacy in mdx mice

Affinity proteomics within rare diseases: a BIO‐NMD study for blood biomarkers of muscular dystrophies

Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy

Peripheral blood transcriptome profiling enables monitoring disease progression in dystrophic mice and patients

The mRNA Binding Proteome of Proliferating and Differentiated Muscle Cells

A multicenter comparison of quantification methods for antisense oligonucleotide-induced DMD exon 51 skipping in Duchenne muscular dystrophy cell cultures

Tracking disease progression non‐invasively in Duchenne and Becker muscular dystrophies

Negative Binomial mixed models estimated with the maximum likelihood method can be used for longitudinal RNAseq data

Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Autophagy is Impaired in the Tibialis Anterior of Dystrophin Null Mice

A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies

Accurate quantification of dystrophin mRNA and exon skipping levels in Duchenne Muscular Dystrophy

Poisson–Tweedie mixed-effects model: A flexible approach for the analysis of longitudinal RNA-seq data

The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5' X-linked dilated cardiomyopathy

Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models

Premature termination codons in the DMD gene cause reduced local mRNA synthesis

Pathway testing for longitudinal metabolomics

Simultaneous Enrichment Analysis of all Possible Gene-sets: Unifying Self-Contained and Competitive Methods

Biomarkers of Duchenne muscular dystrophy: current findings

Exon 51 Skipping Quantification by Digital Droplet PCR in del52hDMD/mdx Mice

Penalized regression calibration: A method for the prediction of survival outcomes using complex longitudinal and high‐dimensional data

Circulating Biomarkers for Duchenne Muscular Dystrophy

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