Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular
genetic results, and to integrate them in the diagnostic process. The limitations of genotyping …

Genome-sequencing studies indicate that all humans carry many genetic variants predicted
to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy …

Allelic heterogeneity in disease-causing genes presents a substantial challenge to the
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …

Background Congenital bilateral absence of the vas deferens (CBAVD) is a form of male
infertility in which mutations in the cystic fibrosis transmembrane conductance regulator …

Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic
variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR …

The spectrum of disorders involving CFTR (cystic fibrosis transmembrane conductance
regulator) dysfunction correlates with a continuous gradient of CFTR function defined by the …

The number of aberrant splicing processes causing human disease is growing exponentially
and many recent studies have uncovered some aspects of the unexpectedly complex …

Disease-causing splicing mutations described in the literature primarily produce changes in
splice sites and, to a lesser extent, variations in exon-regulatory sequences such as the …

The CFTR splicing mutation 3849+ 10 kb C→ T creates a novel donor site 10 kilobases (kb)
into intron 19 of the gene and is one of the more common splicing mutations that causes …