Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies

CFTR gene variants, epidemiology and molecular pathology

(2020) C. Bareil et al.   ARCHIVES DE PEDIATRIE

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality

(2019) Felice Amato et al.   HUMAN MUTATION

Correlating CFTR Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

(2019) Allison F McCague et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

First estimate of the scale of canonical 5' splice site GT>GC variants capable of generating wild‐type transcripts

(2019) Jin‐Huan Lin et al.   HUMAN MUTATION

Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

(2019) Peter G. Middleton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

(2018) Sidi Zhang et al.   GENOME RESEARCH

Splicing mutations in human genetic disorders: examples, detection, and confirmation

(2018) Abramowicz Anna et al.   JOURNAL OF APPLIED GENETICS

Establishment of a ΔF508-CF promyelocytic cell line for cystic fibrosis research and drug screening

(2018) Scott Jennings et al.   Journal of Cystic Fibrosis

Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells

(2018) Hillary C. Valley et al.   Journal of Cystic Fibrosis

Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis

(2018) Neeraj Sharma et al.   PLoS Genetics

Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach

(2017) Simon M. Petersen-Jones et al.   JOURNAL OF CLINICAL INVESTIGATION

Regulatory feedback from nascent RNA to chromatin and transcription

(2017) Lenka Skalska et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis

(2017) Steven M. Rowe et al.   NEW ENGLAND JOURNAL OF MEDICINE

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

(2017) Arif O. Khan et al.   Scientific Reports

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants

(2016) Laura B. Gottschalk et al.   Journal of Cystic Fibrosis

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors

(2016) Elvir Becirovic et al.   PLoS Genetics

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

Effect of predicted protein-truncating genetic variants on the human transcriptome

(2015) M. A. Rivas et al.   SCIENCE

Genetic, cell biological and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention

(2014) Steven V. Molinski et al.   GENETICS IN MEDICINE

Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions

(2014) Neeraj Sharma et al.   HUMAN MUTATION

Efficacy and safety of ivacaftor in patients with cystic fibrosis and a non-G551D gating mutation

(2014) Kris De Boeck et al.   Journal of Cystic Fibrosis

Cystic fibrosis genetics: from molecular understanding to clinical application

(2014) Garry R. Cutting   NATURE REVIEWS GENETICS

Combined Computational-Experimental Analyses ofCFTRExon Strength Uncover Predictability of Exon-Skipping Level

(2013) Abdel Aissat et al.   HUMAN MUTATION

Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function

(2013) Fredrick Van Goor et al.   Journal of Cystic Fibrosis

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

(2013) Patrick R Sosnay et al.   NATURE GENETICS

The evolution, impact and properties of exonic splice enhancers

(2013) Eva Cáceres et al.   GENOME BIOLOGY

Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene

(2012) Alexandra Scott et al.   Journal of Cystic Fibrosis

Ivacaftor potentiation of multiple CFTR channels with gating mutations

(2012) Haihui Yu et al.   Journal of Cystic Fibrosis

Intronic splicing enhancers, cognate splicing factors and context-dependent regulation rules

(2012) Yang Wang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The Curation of Genetic Variants: Difficulties and Possible Solutions

(2012) Kapil Raj Pandey et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center

(2010) Yasuhiro Takeshima et al.   JOURNAL OF HUMAN GENETICS

A Synonymous Mutation in the CFTR Gene Causes Aberrant Splicing in an Italian Patient Affected by a Mild Form of Cystic Fibrosis

(2010) Valeria Faa′ et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Deciphering the splicing code

(2010) Yoseph Barash et al.   NATURE

Alternative Splicing at a NAGNAG Acceptor Site as a Novel Phenotype Modifier

(2010) Alexandre Hinzpeter et al.   PLoS Genetics

Mutation-Specific Potency and Efficacy of Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Potentiators

(2009) A. Caputo et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Rescue of CF airway epithelial cell function in vitro by a CFTR potentiator, VX-770

(2009) F. Van Goor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA