Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis

Translating the genetics of cystic fibrosis to personalized medicine

(2016) Harriet Corvol et al.   Translational Research

Risk of Misdiagnosis Due to Allele Dropout and False-Positive PCR Artifacts in Molecular Diagnostics

(2015) Jonatan Blais et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening ofCFTR

(2015) Daniel Trujillano et al.   Molecular Genetics & Genomic Medicine

Identification of a novel large deletion in a patient with severe factor V deficiency using an in-houseF5MLPA assay

(2014) F. Nuzzo et al.   HAEMOPHILIA

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

(2014) Neeraj Sharma et al.   HUMAN MUTATION

Fine Characterization of the Recurrent c.1584+18672A>G Deep-Intronic Mutation in the Cystic Fibrosis Transmembrane Conductance Regulator Gene

(2013) Lucy Costantino et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Digital PCR as a Novel Technology and Its Potential Implications for Molecular Diagnostics

(2013) J. F. Huggett et al.   CLINICAL CHEMISTRY

Extensive sequence analysis ofCFTR,SCNN1A,SCNN1B,SCNN1GandSERPINA1suggests an oligogenic basis for cystic fibrosis-like phenotypes

(2013) M.D. Ramos et al.   CLINICAL GENETICS

Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II

(2013) Valeria Rimoldi et al.   GENE

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

Assessing the Disease-Liability of Mutations in CFTR

(2013) C. Ferec et al.   Cold Spring Harbor Perspectives in Medicine

The Cystic Fibrosis Gene: A Molecular Genetic Perspective

(2013) L.-C. Tsui et al.   Cold Spring Harbor Perspectives in Medicine

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

Combination of ENaC and CFTR mutations may predispose to cystic fibrosis-like disease

(2009) I. Fajac et al.   EUROPEAN RESPIRATORY JOURNAL

Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease

(2009) Abul Kalam Azad et al.   HUMAN MUTATION

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

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS