Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene (Q37418902)

20 August 2017

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

1 reference

20 August 2017

0 references

transmembrane protein

0 references

Karen R Siklosi

2

0 references

Anabela S Ramalho

object named as

Anabela S Ramalho

7

0 references

Margarida Duarte Amaral

object named as

Margarida D Amaral

8

0 references

George P Patrinos

15

object named as

George P Patrinos

1 reference

20 August 2017

11

David L Masica

1 reference

20 August 2017

Patrick R Sosnay

1

1 reference

20 August 2017

Fredrick Van Goor

3

1 reference

20 August 2017

Kyle Kaniecki

4

1 reference

20 August 2017

Haihui Yu

5

1 reference

20 August 2017

Neeraj Sharma

6

1 reference

20 August 2017

Ruslan Dorfman

9

1 reference

20 August 2017

Julian Zielenski

10

1 reference

20 August 2017

Rachel Karchin

12

1 reference

20 August 2017

Linda Millen

13

1 reference

20 August 2017

Philip J Thomas

14

1 reference

20 August 2017

Mary Corey

16

1 reference

20 August 2017

Michelle H Lewis

17

1 reference

20 August 2017

Johanna M Rommens

18

1 reference

20 August 2017

Carlo Castellani

19

1 reference

20 August 2017

Christopher M Penland

20

1 reference

20 August 2017

Garry R Cutting

21

1 reference

20 August 2017

language of work or name

English

0 references

publication date

25 August 2013

1 reference

20 August 2017

1 reference

20 August 2017

45

1 reference

20 August 2017

10

1 reference

20 August 2017

1160-1167

1 reference

A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

An integrated map of genetic variation from 1,092 human genomes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Relating the disease mutation spectrum to the evolution of the cystic fibrosis transmembrane conductance regulator (CFTR)

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Requirements for Efficient Correction of ΔF508 CFTR Revealed by Analyses of Evolved Sequences

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Lessons learned from 20 years of newborn screening for cystic fibrosis.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Guidelines for establishing locus specific databases.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Exome sequencing as a tool for Mendelian disease gene discovery

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Recommendations for the classification of diseases as CFTR-related disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Quantification of CFTR transcripts.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Basic statistical analysis in genetic case-control studies

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

CFTR transcription defects in pancreatic sufficient cystic fibrosis patients with only one mutation in the coding region of CFTR.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

NMD: RNA biology meets human genetic medicine

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Simple, efficient, and cost-effective multiplex genotyping with matrix assisted laser desorption/ionization time-of-flight mass spectrometry of hemoglobin beta gene mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

The NCBI dbGaP database of genotypes and phenotypes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Use of minigene systems to dissect alternative splicing elements

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

On the probability that a novel variant is a disease-causing mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Five Percent of Normal Cystic Fibrosis Transmembrane Conductance Regulator mRNA Ameliorates the Severity of Pulmonary Disease in Cystic Fibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Nonsense-mediated mRNA decay in health and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Spirometric reference values from a sample of the general U.S. population

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Extensive posttranscriptional deletion of the coding sequences for part of nucleotide-binding fold 1 in respiratory epithelial mRNA transcripts of the cystic fibrosis transmembrane conductance regulator gene is not associated with the clinical manif

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

'Sticky feet'-directed mutagenesis and its application to swapping antibody domains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Ivacaftor potentiation of multiple CFTR channels with gating mutations

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Use of primary cultures of human bronchial epithelial cells isolated from cystic fibrosis patients for the pre-clinical testing of CFTR modulators

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Efficiency of gene transfer for restoration of normal airway epithelial function in cystic fibrosis

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Translating genes into health

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Cystic fibrosis testing 8 years on: lessons learned from carrier screening and sequencing analysis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

The Cystic Fibrosis mutation "arms race": when less is more

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Colon Cancer Family Registry: an international resource for studies of the genetic epidemiology of colon cancer.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Pulmonary function between 6 and 18 years of age.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Newborn screening for cystic fibrosis

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

Curating gene variant databases (LSDBs): toward a universal standard

2 October 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3874936

2 October 2018

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

21 January 2018

1 reference

Complexity in a monogenic disease

21 January 2018

1 reference

A new approach for identifying non-pathogenic mutations. An analysis of the cystic fibrosis transmembrane regulator gene in normal individuals

21 January 2018

1 reference

European best practice guidelines for cystic fibrosis neonatal screening

21 January 2018

1 reference

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis

21 January 2018

1 reference

Splicing defects in the CFTR gene: minigene analysis of two mutations, 1811+1G>C and 1898+3A>G

21 January 2018

1 reference

12 December 2020

The case for locus-specific databases

1 reference

12 December 2020

Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis

1 reference

12 December 2020

Sweat electrolyte disturbances associated with childhood pancreatic disease

1 reference

12 December 2020

A universal array-based multiplexed test for cystic fibrosis carrier screening

1 reference

12 December 2020

The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis

1 reference

12 December 2020

Fertility in Males with Cystic Fibrosis

1 reference

12 December 2020

A survey of newborn screening for cystic fibrosis in Europe

1 reference

12 December 2020

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

1 reference

12 December 2020

Prospective and parallel assessments of cystic fibrosis newborn screening protocols in the Czech Republic: IRT/DNA/IRT versus IRT/PAP and IRT/PAP/DNA

1 reference

12 December 2020

Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

1 reference

12 December 2020

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene

1 reference

12 December 2020

A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations

1 reference

12 December 2020

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

1 reference

12 December 2020

Cystic fibrosis patients with the 3272-26A?G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane

1 reference

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/NG.2745

1 reference

Dimensions Publication ID

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

23974870

1 reference