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MMSplice: modular modeling improves the predictions of genetic variant effects on splicing

Genome Biology, 2019-03, Vol.20 (1), p.48-48, Article 48

2019

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Large-scale analysis of branchpoint usage across species and cell lines

Genome research, 2017-04, Vol.27 (4), p.639-649

2017

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Pathogenic variants that alter protein code often disrupt splicing

Nature genetics, 2017-06, Vol.49 (6), p.848-855

2017

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Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Cell, 2018-02, Vol.172 (5), p.952-965.e18

2018

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Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes

PLoS genetics, 2022-01, Vol.18 (1), p.e1009884-e1009884

2022

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Mutational bias and the protein code shape the evolution of splicing enhancers

Nature communications, 2020-06, Vol.11 (1), p.2845-2845, Article 2845

2020

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The importance of p53 pathway genetics in inherited and somatic cancer genomes

Nature reviews. Cancer, 2016-04, Vol.16 (4), p.251-265

2016

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Hotspot exons are common targets of splicing perturbations

Nature communications, 2021-05, Vol.12 (1), p.2756-2756, Article 2756

2021

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The unusual gene architecture of polyubiquitin is created by dual-specific splice sites

Genome Biology, 2024-01, Vol.25 (1), p.33-18, Article 33

2024

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Hereditary cancer genes are highly susceptible to splicing mutations

PLoS genetics, 2018-03, Vol.14 (3), p.e1007231-e1007231

2018

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Intronic RNA: Ad'junk' mediator of post-transcriptional gene regulation

Biochimica et biophysica acta. Gene regulatory mechanisms, 2019-11, Vol.1862 (11-12), p.194439-194439

2019

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Predictive Identification of Exonic Splicing Enhancers in Human Genes

Science (American Association for the Advancement of Science), 2002-08, Vol.297 (5583), p.1007-1013

2002

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The debranching enzyme Dbr1 regulates lariat turnover and intron splicing

Nature communications, 2024-05, Vol.15 (1), p.4617-13, Article 4617

2024

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Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo

Nature structural & molecular biology, 2012-07, Vol.19 (7), p.719-721

2012

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Large-scale functional screen identifies genetic variants with splicing effects in modern and archaic humans

Proceedings of the National Academy of Sciences - PNAS, 2023-05, Vol.120 (21), p.e2218308120-e2218308120

2023

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Widespread intra-dependencies in the removal of introns from human transcripts

Nucleic acids research, 2017-09, Vol.45 (16), p.9503-9513

2017

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Spliceman-a computational web server that predicts sequence variations in pre-mRNA splicing

Bioinformatics (Oxford, England), 2012-04, Vol.28 (7), p.1031-1032

2012

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Deep RNA sequencing of intensive care unit patients with COVID-19

Scientific reports, 2022-09, Vol.12 (1), p.15755-10, Article 15755

2022

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RNA-Binding Proteins: Splicing Factors and Disease

Biomolecules (Basel, Switzerland), 2015-05, Vol.5 (2), p.893-909

2015

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Single nucleotide polymorphism-based validation of exonic splicing enhancers

PLoS biology, 2004-09, Vol.2 (9), p.E268-E268

2004

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A general mechanism for transcription regulation by Oct1 and Oct4 in response to genotoxic and oxidative stress

Genes & development, 2009-01, Vol.23 (2), p.208-222

2009

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Alternative RNA splicing and alternative transcription start/end in acute respiratory distress syndrome

Intensive care medicine, 2020-04, Vol.46 (4), p.813-815

2020

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Crystal Structure of the RNA Lariat Debranching Enzyme Dbr1 with Hydrolyzed Phosphorothioate RNA Product

Biochemistry (Easton), 2022-12, Vol.61 (24), p.2933-2939

2022

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Soluble programmed cell death receptor-1 (sPD-1): a potential biomarker with anti-inflammatory properties in human and experimental acute respiratory distress syndrome (ARDS)

Journal of translational medicine, 2016-11, Vol.14 (1), p.312-312, Article 312

2016

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Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain

The Journal of biological chemistry, 2023-09, Vol.299 (9), p.105100, Article 105100

2023

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MMSplice: modular modeling improves the predictions of genetic variant effects on splicing

Large-scale analysis of branchpoint usage across species and cell lines

Pathogenic variants that alter protein code often disrupt splicing

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

Massively parallel reporter assays discover de novo exonic splicing mutants in paralogs of Autism genes

Mutational bias and the protein code shape the evolution of splicing enhancers

The importance of p53 pathway genetics in inherited and somatic cancer genomes

Hotspot exons are common targets of splicing perturbations

The unusual gene architecture of polyubiquitin is created by dual-specific splice sites

Hereditary cancer genes are highly susceptible to splicing mutations

Intronic RNA: Ad'junk' mediator of post-transcriptional gene regulation

Predictive Identification of Exonic Splicing Enhancers in Human Genes

The debranching enzyme Dbr1 regulates lariat turnover and intron splicing

Large-scale mapping of branchpoints in human pre-mRNA transcripts in vivo

Large-scale functional screen identifies genetic variants with splicing effects in modern and archaic humans

Widespread intra-dependencies in the removal of introns from human transcripts

Spliceman-a computational web server that predicts sequence variations in pre-mRNA splicing

Deep RNA sequencing of intensive care unit patients with COVID-19

RNA-Binding Proteins: Splicing Factors and Disease

Single nucleotide polymorphism-based validation of exonic splicing enhancers

A general mechanism for transcription regulation by Oct1 and Oct4 in response to genotoxic and oxidative stress

Alternative RNA splicing and alternative transcription start/end in acute respiratory distress syndrome

Crystal Structure of the RNA Lariat Debranching Enzyme Dbr1 with Hydrolyzed Phosphorothioate RNA Product

Soluble programmed cell death receptor-1 (sPD-1): a potential biomarker with anti-inflammatory properties in human and experimental acute respiratory distress syndrome (ARDS)

Activation of human RNA lariat debranching enzyme Dbr1 by binding protein TTDN1 occurs though an intrinsically disordered C-terminal domain

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