Background P-element–induced wimpy testis (PIWI)–interacting RNAs (piRNAs) are short
(21 to 35 nucleotides in length) and noncoding and are found almost exclusively in germ …

STUDY QUESTION What are the causative genetic variants in patients with male infertility
due to severe sperm motility disorders? SUMMARY ANSWER We identified high confidence …

Background Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome
yet important for the clinical management of the disease. Exome sequencing may provide a …

STUDY QUESTION Can exome sequencing identify new genetic causes of
globozoospermia? SUMMARY ANSWER Exome sequencing in 15 cases of unexplained …

Infertility affects around 7% of the male population and can be due to severe spermatogenic
failure (SPGF), resulting in no or very few sperm in the ejaculate. We initially identified a …

Keratolytic winter erythema (KWE) is a rare autosomal-dominant skin disorder characterized
by recurrent episodes of palmoplantar erythema and epidermal peeling. KWE was …

We analyzed three cases of Complete Androgen Insensitivity Syndrome (CAIS) and report
three hitherto undisclosed causes of the disease. RNA-Seq, Real-timePCR, Western …

Several tools have been developed to enable biologists to perform initial browsing and
exploration of sequencing data. However, the computational tool set for further analyses …