Oocyte maturation arrest is one of the important causes of female infertility, but the genetic
factors remain largely unknown. PABPC1L, a predominant poly (A)‐binding protein in …

Background: The genetic factors that modulate risk for developing lung cancer have not
been fully defined. Here, we sought to determine the prevalence and clinical significance of …

Acquiring a sufficiently powered cohort of control samples matched to a case sample can be
time-consuming or, in some cases, impossible. Accordingly, an ability to leverage genetic …

Genome‐wide approaches applied for the identification of new hereditary colorectal cancer
(CRC) genes, identified several potential causal genes, including RPS20, IL12RB1, LIMK2 …

Linkage disequilibrium (LD) is a fundamental concept in genetics; critical for studying
genetic associations and molecular evolution. However, LD measurements are only reliable …

Hemiplegic migraine (HM) is a rare subtype of migraine with aura. Given that causal
missense mutations in the voltage-gated calcium channel α1A subunit gene CACNA1A …

Context The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of
pubertal timing, linear growth, and the acquisition of lean mass in humans and mice. In …

Purpose Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent
puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) …

Background Pediatric astrocytoma constitutes a majority of malignant pediatric brain tumors.
Previous studies that investigated pediatric cancer predisposition have primarily been …

Background Recently, members of the DnaJ homolog C (DNAJC) family have been
identified to be associated with Parkinson's disease (PD) and other neurodegenerative …