Background Whole-exome sequencing (WES) has led to an exponential increase in identification
of causative variants in mitochondrial disorders (MD). Methods We performed WES in …

Majority of clear cell renal cell carcinomas (ccRCCs) are diagnosed in the advanced metastatic
stage resulting in dramatic decrease of patient survival. Thereby, early detection and …

Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large
number of genetic diseases, molecular and phenotype heterogeneity and often severe course, …

Mutations in mitochondrial DNA have been reported as associated with non-syndromic and
aminoglycoside-induced hearing loss. In the present study, we have performed mutational …

Background Glycosylphosphatidylinositol (GPI)-anchor deficiencies are a new subclass of
congenital disorders of glycosylation. About 26 genes are involved in the GPI-anchor …

Purpose Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease
(IRD). Methods Genome and exome sequencing were performed for five unrelated cases …

Identification of pathogens causing viral encephalitis remains challenging, and in over 50%
of cases the etiologic factor remains undetermined. Next-generation sequencing (NGS) …

Background Ichthyosis and neurological involvement occur in relatively few known Mendelian
disorders caused by mutations in genes relevant both for epidermis and neural function. …

The Neurofascins (NFASCs) are a family of proteins encoded by alternative transcripts of
NFASC that cooperate in the assembly of the node of Ranvier in myelinated nerves. Differential …

Loss‐of‐function de novo mutations in the SETD5 gene, encoding a putative methyltransferase,
are an important cause of moderate/severe intellectual disability as evidenced by the …