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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

2017

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Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (27), p.11093-11098

2011

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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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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 importance of p53 pathway genetics in inherited and somatic cancer genomes

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

2016

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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.33-33, 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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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Neurology, 2013-10, Vol.81 (14), p.1205

2013

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

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

2012

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

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

2022

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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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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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Changes in the process of alternative RNA splicing results in soluble B and T lymphocyte attenuator with biological and clinical implications in critical illness

Molecular medicine (Cambridge, Mass.), 2018-06, Vol.24 (1), p.32-32, Article 32

2018

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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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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes

Genome medicine, 2021-09, Vol.13 (1), p.147-147, Article 147

2021

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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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ISWI contributes to ArsI insulator function in development of the sea urchin

Development (Cambridge), 2012-10, Vol.139 (19), p.3613-3622

2012

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Identification and mechanistic basis of non-ACE2 blocking neutralizing antibodies from COVID-19 patients with deep RNA sequencing and molecular dynamics simulations

Frontiers in molecular biosciences, 2022-12, Vol.9, p.1080964-1080964

2022

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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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Next-generation SELEX identifies sequence and structural determinants of splicing factor binding in human pre-mRNA sequence

RNA (Cambridge), 2009-12, Vol.15 (12), p.2385-2397

2009

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

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

Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

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

Hotspot exons are common targets of splicing perturbations

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

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

Hereditary cancer genes are highly susceptible to splicing mutations

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Predictive Identification of Exonic Splicing Enhancers in Human Genes

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

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

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

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

Changes in the process of alternative RNA splicing results in soluble B and T lymphocyte attenuator with biological and clinical implications in critical illness

RNA-Binding Proteins: Splicing Factors and Disease

Single nucleotide polymorphism-based validation of exonic splicing enhancers

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes

Pathogenic variants that alter protein code often disrupt splicing

ISWI contributes to ArsI insulator function in development of the sea urchin

Identification and mechanistic basis of non-ACE2 blocking neutralizing antibodies from COVID-19 patients with deep RNA sequencing and molecular dynamics simulations

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

Next-generation SELEX identifies sequence and structural determinants of splicing factor binding in human pre-mRNA sequence

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

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

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