CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants

Human Variome Project Quality Assessment Criteria for Variation Databases

(2016) Mauno Vihinen et al.   HUMAN MUTATION

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

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

Comparative ex vivo , in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations

(2016) Anabela S. Ramalho et al.   Journal of Cystic Fibrosis

Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

(2016) Adrien Pagin et al.   PLoS One

Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis

(2015) Jennifer Bonini et al.   GENETICS IN MEDICINE

p.Arg75Gln, a CFTR variant involved in the risk of CFTR-related disorders?

(2014) Brigitte Martinez et al.   JOURNAL OF HUMAN GENETICS

Cystic fibrosis genetics: from molecular understanding to clinical application

(2014) Garry R. Cutting   NATURE REVIEWS GENETICS

Mechanisms of CFTR Functional Variants That Impair Regulated Bicarbonate Permeation and Increase Risk for Pancreatitis but Not for Cystic Fibrosis

(2014) Jessica LaRusch et al.   PLoS Genetics

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

(2013) Caroline Raynal et al.   HUMAN MUTATION

Next generation diagnostics of cystic fibrosis andCFTR-related disorders by targeted multiplex high-coverage resequencing ofCFTR

(2013) D Trujillano et al.   JOURNAL OF MEDICAL GENETICS

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

(2013) Patrick R Sosnay et al.   NATURE GENETICS

Identification of a novel duplication CFTRdup2 and functional impact of large rearrangements identified in the CFTR gene

(2012) Magali Taulan et al.   GENE

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

Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme

(2011) Sarah Berwouts et al.   HUMAN MUTATION

Describing structural changes by extending HGVS sequence variation nomenclature

(2011) Peter E.M. Taschner et al.   HUMAN MUTATION

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

(2010) María D. Ramos et al.   ANNALS OF HUMAN GENETICS

Notable contribution of large CFTR gene rearrangements to the diagnosis of cystic fibrosis in fetuses with bowel anomalies

(2010) Alix de Becdelièvre et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Combined Bicarbonate Conductance-Impairing Variants in CFTR and SPINK1 Variants Are Associated With Chronic Pancreatitis in Patients Without Cystic Fibrosis

(2010) Alexander Schneider et al.   GASTROENTEROLOGY

Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection

(2010) George P. Patrinos et al.   HUMAN MUTATION

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

(2010) Sylvia Quemener et al.   HUMAN MUTATION

The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”

(2010) Heather J. Howard et al.   HUMAN MUTATION

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

(2010) Sue Povey et al.   HUMAN MUTATION

UMD-CFTR: A database dedicated to CF and CFTR-related disorders

(2010) Corinne Bareil et al.   HUMAN MUTATION

A novel double deletion underscores the importance of characterizing end points of the CFTR large rearrangements

(2009) Magali Taulan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

(2009) Richard G H Cotton et al.   GENETICS IN MEDICINE

Le dépistage néonatal de la mucoviscidose : stratégie et résultats nationaux

(2008) A. Munck et al.   ARCHIVES DE PEDIATRIE

Epidemiology and a novel procedure for large scale analysis of CFTR rearrangements in classic and atypical CF patients: A multicentric Italian study

(2008) R. Tomaiuolo et al.   Journal of Cystic Fibrosis

WGA Allows the Molecular Characterization of a Novel Large CFTR Rearrangement in a Black South African Cystic Fibrosis Patient

(2008) Marie des Georges et al.   JOURNAL OF MOLECULAR DIAGNOSTICS