Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology

Cystic Fibrosis

(2016) Marie-Luise Brennan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Cystic fibrosis

(2016) J Stuart Elborn   LANCET

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

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches

(2015) Valeria D'Argenio et al.   CLINICA CHIMICA ACTA

Guidelines for diagnostic next-generation sequencing

(2015) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2015) Jennifer Bonini et al.   GENETICS IN MEDICINE

Complete sequencing of Novosphingobium sp. PP1Y reveals a biotechnologically meaningful metabolic pattern

(2014) Valeria D’Argenio et al.   BMC GENOMICS

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

(2013) Patrick R Sosnay et al.   NATURE GENETICS

PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing

(2013) Svetlana Rechitsky et al.   REPRODUCTIVE BIOMEDICINE ONLINE

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

(2012) Magali Taulan et al.   GENE

Recommendations for the classification of diseases as CFTR-related disorders

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

A standardized framework for the validation and verification of clinical molecular genetic tests

(2010) Christopher J Mattocks et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A novel donor splice site characterized by CFTR mRNA analysis induces a new pseudo-exon in CF patients

(2010) Lucy Costantino et al.   Journal of Cystic Fibrosis

Characterization of a Disease-associated Mutation Affecting a Putative Splicing Regulatory Element in Intron 6b of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene

(2009) Valeria Faà et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations

(2008) Els Dequeker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

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