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Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

Human mutation, 2007-02, Vol.28 (2), p.150-158

2007

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Alternative Splicing Regulatory Networks: Functions, Mechanisms, and Evolution

Molecular cell, 2019-10, Vol.76 (2), p.329-345

2019

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Interpretable prioritization of splice variants in diagnostic next-generation sequencing

American journal of human genetics, 2021-09, Vol.108 (9), p.1564-1577

2021

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Tau-Mediated Disruption of the Spliceosome Triggers Cryptic RNA Splicing and Neurodegeneration in Alzheimer’s Disease

Cell reports (Cambridge), 2019-10, Vol.29 (2), p.301-316.e10

2019

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Splicing quality control mediated by DHX15 and its G-patch activator SUGP1

Cell reports (Cambridge), 2023-10, Vol.42 (10), p.113223-113223, Article 113223

2023

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Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

American journal of human genetics, 2017-05, Vol.100 (5), p.751-765

2017

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Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

Frontiers in genetics, 2022-06, Vol.13, p.943044-943044

2022

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Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

Frontiers in genetics, 2022-01, Vol.12, p.806946

2022

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Cryptic splicing: common pathological mechanisms involved in male infertility and neuronal diseases

Cell cycle (Georgetown, Tex.), 2022-02, Vol.ahead-of-print (ahead-of-print), p.1-9

2022

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Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

BMC bioinformatics, 2022-11, Vol.23 (1), p.482-32, Article 482

2022

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RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins

Cell reports (Cambridge), 2018-10, Vol.25 (3), p.726-736.e7

2018

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RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS

Acta neuropathologica, 2024-06, Vol.147 (1), p.50, Article 50

2024

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At the Intersection of Major and Minor Spliceosomes: Crosstalk Mechanisms and Their Impact on Gene Expression

Frontiers in genetics, 2021-07, Vol.12, p.700744-700744

2021

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hnRNPM protects against the dsRNA-mediated interferon response by repressing LINE-associated cryptic splicing

Molecular cell, 2024-06, Vol.84 (11), p.2087-2103.e8

2024

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Identification of a novel TNNI3 synonymous variant causing intron retention in autosomal recessive dilated cardiomyopathy

Gene, 2023-03, Vol.856, p.147102-147102, Article 147102

2023

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MATR3 pathogenic variants differentially impair its cryptic splicing repression function

FEBS letters, 2024-02, Vol.598 (4), p.415-436

2024

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Multilevel Differential Control of Hormone Gene Expression Programs by hnRNP L and LL in Pituitary Cells

Molecular and cellular biology, 2018-06, Vol.38 (12)

2018

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Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity

Molecular cell, 2018-11, Vol.72 (3), p.482-495.e7

2018

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Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing

Frontiers in genetics, 2020-03, Vol.11, p.109-109

2020

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Splicing mutations in inherited retinal diseases

Progress in retinal and eye research, 2021-01, Vol.80, p.100874-100874, Article 100874

2021

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Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

HGG advances, 2024-10, Vol.5 (4), p.100351, Article 100351

2024

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The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing

Cancers, 2021-09, Vol.13 (17), p.4464

2021

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Inhibition of nonsense-mediated RNA decay by ER stress

RNA (Cambridge), 2017-03, Vol.23 (3), p.378-394

2017

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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

American journal of human genetics, 2019-09, Vol.105 (3), p.625-630

2019

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Minor spliceosome and disease

Seminars in cell & developmental biology, 2018-07, Vol.79, p.103-112

2018

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Single base-pair substitutions in exon-intron junctions of human genes: nature, distribution, and consequences for mRNA splicing

Alternative Splicing Regulatory Networks: Functions, Mechanisms, and Evolution

Interpretable prioritization of splice variants in diagnostic next-generation sequencing

Tau-Mediated Disruption of the Spliceosome Triggers Cryptic RNA Splicing and Neurodegeneration in Alzheimer’s Disease

Splicing quality control mediated by DHX15 and its G-patch activator SUGP1

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites

Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

Cryptic splicing: common pathological mechanisms involved in male infertility and neuronal diseases

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

RBM17 Interacts with U2SURP and CHERP to Regulate Expression and Splicing of RNA-Processing Proteins

RNA aptamer reveals nuclear TDP-43 pathology is an early aggregation event that coincides with STMN-2 cryptic splicing and precedes clinical manifestation in ALS

At the Intersection of Major and Minor Spliceosomes: Crosstalk Mechanisms and Their Impact on Gene Expression

hnRNPM protects against the dsRNA-mediated interferon response by repressing LINE-associated cryptic splicing

Identification of a novel TNNI3 synonymous variant causing intron retention in autosomal recessive dilated cardiomyopathy

MATR3 pathogenic variants differentially impair its cryptic splicing repression function

Multilevel Differential Control of Hormone Gene Expression Programs by hnRNP L and LL in Pituitary Cells

Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity

Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing

Splicing mutations in inherited retinal diseases

Investigation of cryptic JAG1 splice variants as a cause of Alagille syndrome and performance evaluation of splice predictor tools

The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing

Inhibition of nonsense-mediated RNA decay by ER stress

Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1

Minor spliceosome and disease

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