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

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to theCFTRGene

(2013) Caroline Raynal et al.   HUMAN MUTATION

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2012) Juan L. Mendoza et al.   CELL

Newborn screening for cystic fibrosis

(2012) Jeffrey S. Wagener et al.   CURRENT OPINION IN PEDIATRICS

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

(2012) Veronika Krulišová et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

(2012) George P. Patrinos et al.   HUMAN MUTATION

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

(2012) David L. Masica et al.   HUMAN MUTATION

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

Lessons learned from 20 years of newborn screening for cystic fibrosis

(2012) R John H Massie et al.   MEDICAL JOURNAL OF AUSTRALIA

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

(2012)   NATURE

Translating genes into health

(2012) Larry J Kricka et al.   NATURE GENETICS

Relating the Disease Mutation Spectrum to the Evolution of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

(2012) Lavanya Rishishwar et al.   PLoS One

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

(2012) Annette M M Vernooij-van Langen et al.   THORAX

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

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Guidelines for establishing locus specific databases

(2011) Mauno Vihinen et al.   HUMAN MUTATION

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

(2011) Jacopo Celli et al.   HUMAN MUTATION

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

(2011) Gwendal Dujardin et al.   Journal of Cystic Fibrosis

Recommendations for the classification of diseases as CFTR-related disorders

(2011) C. Bombieri et al.   Journal of Cystic Fibrosis

The value of data

(2011) Barend Mons et al.   NATURE GENETICS

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

(2011) Belinda Giardine et al.   NATURE GENETICS

Basic statistical analysis in genetic case-control studies

(2011) Geraldine M Clarke et al.   Nature Protocols

The case for locus-specific databases

(2011) Mark E. Samuels et al.   NATURE REVIEWS GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

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

NMD: RNA biology meets human genetic medicine

(2010) Madhuri Bhuvanagiri et al.   BIOCHEMICAL JOURNAL

Do commonin silicotools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

(2010) R Dorfman et al.   CLINICAL GENETICS

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

(2010) Charles M Strom et al.   GENETICS IN MEDICINE

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

(2010) M. B. Sheridan et al.   JOURNAL OF MEDICAL GENETICS

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

(2009) Sylvie Tuffery-Giraud et al.   HUMAN MUTATION

European best practice guidelines for cystic fibrosis neonatal screening

(2009) Carlo Castellani et al.   Journal of Cystic Fibrosis

Simple, Efficient, and Cost-Effective Multiplex Genotyping with Matrix Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry of Hemoglobin Beta Gene Mutations

(2009) Wanna Thongnoppakhun et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

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

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

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

(2008) Kristina V. Krasnov et al.   HUMAN MUTATION

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

(2008) Sharon E. Plon et al.   HUMAN MUTATION

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

(2008) C. Castellani et al.   Journal of Cystic Fibrosis

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

(2008) Philip M. Farrell et al.   JOURNAL OF PEDIATRICS