… common genetic heart disease, encompassing a particularly heterogeneous disease spectrum.
… of the molecular era in cardiovascular disease, 4–9 ie mutation carriers without the HCM …

… Ciliopathies comprise a group of disorders associated with genetic mutations encoding
defective proteins, which result in either abnormal formation or function of cilia. As cilia are a …

… and discuss the challenges in the interpretation of genetic data. Finally, we discuss the …
expanding phenotypic spectra associated with kidney disease genes for clinical practice, genetic …

… spectrum caused by bi-allelic mutations of CSF1R [3]. Besides leukoencephalopathy of
earlier onset than HDLS, the new disease … on monogenic disorders caused by mutations in …

… Therefore, our finding of a progressive disorder with chorea further expands the clinical
spectrum of CACNA1A mutations. We must remain vigilant because larger-scale sequencing …

… E64X mutation known to cause a premature stop codon in SLC9A6. We characterize and
expand the clinical phenotype of female SLC9A6 mutation carriers by comparing our described …

… We assume a sudden expansion from 10 000 to 6 × 10 9 individuals and mutation rate μ
= 3.2 × 10 −6 per generation. (a) The kinetics of the disappearance of the ancestral …

… a spectrum of new mutations and also new causative genes in hereditary CRC. New
syndromes have been described like the recently reported, Polymerase Proofreading-Associated …

… genes for preeclampsia, 43 we hypothesized that a mutation … , consequently, the severity
of disease. Our analysis did not … figure 4 also highlights that asymptomatic carriers (nos. 33/c …

… for interview and gene analysis. Mutation carriers were screened for additional mutations
in exons 4 and 6 of the NLRP3 gene as well as in exons 2, 3, and 10 of the MEFV gene and …