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Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing

Genome Biology, 2018-03, Vol.19 (1), p.46-18, Article 46

2018

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Drug Repositioning through Systematic Mining of Gene Coexpression Networks in Cancer

PloS one, 2016-11, Vol.11 (11), p.e0165059-e0165059

2016

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Benchmarking deep learning splice prediction tools using functional splice assays

Human mutation, 2021-07, Vol.42 (7), p.799-810

2021

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The effects of low levels of dystrophin on mouse muscle function and pathology

PloS one, 2012-02, Vol.7 (2), p.e31937-e31937

2012

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Strap associates with Csde1 and affects expression of select Csde1-bound transcripts

PloS one, 2018-08, Vol.13 (8), p.e0201690-e0201690

2018

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Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model

Molecular neurodegeneration, 2018-06, Vol.13 (1), p.31-18, Article 31

2018

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Systematic genomic and translational efficiency studies of uveal melanoma

PloS one, 2017-06, Vol.12 (6), p.e0178189-e0178189

2017

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Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors

PloS one, 2018-04, Vol.13 (4), p.e0193790-e0193790

2018

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RNA sequencing: from tag-based profiling to resolving complete transcript structure

Cellular and molecular life sciences : CMLS, 2014-09, Vol.71 (18), p.3537-3551

2014

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Entropy and Variability: A Second Opinion by Deep Learning

Biomolecules (Basel, Switzerland), 2022-11, Vol.12 (12), p.1740

2022

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Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Scientific reports, 2017-10, Vol.7 (1), p.12575-12, Article 12575

2017

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Overactive bone morphogenetic protein signaling in heterotopic ossification and Duchenne muscular dystrophy

Cellular and molecular life sciences : CMLS, 2013-02, Vol.70 (3), p.407-423

2013

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Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity

PloS one, 2010-11, Vol.5 (11), p.e13854-e13854

2010

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Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva

PloS one, 2013-07, Vol.8 (7), p.e69096-e69096

2013

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Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

Nucleic acids research, 2008-12, Vol.36 (21), p.e141-e141

2008

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Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

Nature communications, 2024-02, Vol.15 (1), p.1227-1227, Article 1227

2024

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Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients

Proteomics. Clinical applications, 2016-03, Vol.10 (3), p.290-299

2016

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Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Human mutation, 2019-10, Vol.40 (10), p.1797-1812

2019

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New methods for next generation sequencing based microRNA expression profiling

BMC genomics, 2010-12, Vol.11 (1), p.716-716

2010

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Ten quick tips for building FAIR workflows

PLoS computational biology, 2023-09, Vol.19 (9), p.e1011369-e1011369

2023

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Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses

PLoS genetics, 2015-01, Vol.11 (1), p.e1004835-e1004835

2015

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Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

Nucleic acids research, 2012-10, Vol.40 (18), p.9089-9101

2012

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Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT

Scientific reports, 2024-09, Vol.14 (1), p.20731-12, Article 20731

2024

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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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Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing

Drug Repositioning through Systematic Mining of Gene Coexpression Networks in Cancer

Benchmarking deep learning splice prediction tools using functional splice assays

The effects of low levels of dystrophin on mouse muscle function and pathology

Strap associates with Csde1 and affects expression of select Csde1-bound transcripts

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model

Systematic genomic and translational efficiency studies of uveal melanoma

Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors

RNA sequencing: from tag-based profiling to resolving complete transcript structure

Entropy and Variability: A Second Opinion by Deep Learning

Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy

Overactive bone morphogenetic protein signaling in heterotopic ossification and Duchenne muscular dystrophy

Proteomic analysis of the dysferlin protein complex unveils its importance for sarcolemmal maintenance and integrity

Antisense-oligonucleotide mediated exon skipping in activin-receptor-like kinase 2: inhibiting the receptor that is overactive in fibrodysplasia ossificans progressiva

Gateways to the FANTOM5 promoter level mammalian expression atlas

Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

Comparative mass spectrometric and immunoassay-based proteome analysis in serum of Duchenne muscular dystrophy patients

Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

New methods for next generation sequencing based microRNA expression profiling

Ten quick tips for building FAIR workflows

Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses

Poly(A) binding protein nuclear 1 levels affect alternative polyadenylation

Integrative analysis of multi-omics data reveals importance of collagen and the PI3K AKT signalling pathway in CAKUT

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

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