Penetrance is the probability that an individual with a pathogenic genetic variant develops a
specific disease. Knowing the penetrance of variants for monogenic disorders is important …

Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent
hypoglycaemia in infants and young children caused by inappropriate insulin over …

Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of
absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized …

Background: Hyperinsulinism (HI) due to dysregulation of pancreatic beta-cell insulin
secretion is the most common and most severe cause of persistent hypoglycemia in infants …

The role of rare non-coding variation in complex human phenotypes is still largely unknown.
To elucidate the impact of rare variants in regulatory elements, we performed a whole …

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 …

In a patient with permanent neonatal syndromic diabetes clinically similar to cases with
ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of …

Nesidioblastoma and nesidioblastosis were terms given to neoplastic and non-neoplastic
lesions of the pancreas associated with pancreatogenous hyperinsulinaemic …

Insufficient thyroid hormone production in newborns is referred to as congenital
hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with …

Hexokinases (HKs) convert hexose sugars to hexose-6-phosphate, thus trapping them
inside cells to meet the synthetic and energetic demands. HKs participate in various …