In diploid organisms, haploinsufficiency can be defined as the requirement for more than
one fully functional copy of a gene. In contrast to most genes, whose loss-of-function alleles …

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 …

Importance Although the clinical utility of genome sequencing for critically ill children is well
recognized, its utility for proactive pediatric screening is not well explored. Objective To …

Understanding dosage sensitivity or why Mendelian diseases have dominant vs. recessive
modes of inheritance is crucial for uncovering the etiology of human disease. Previous …

Introduction KCTD15 encodes an oligomeric BTB domain protein reported to inhibit neural
crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation …

Polygonatum cyrtonema Hua is a perennial herbaceous plant of the Polygonatum genus,
belonging to the Liliaceae family, with significant medicinal and nutritional value. In China …

Dominance is usually considered a constant value that describes the relative difference in
fitness or phenotype between heterozygotes and the average of homozygotes at a focal …

Incomplete penetrance is the rule rather than the exception in Mendelian disease. In
syndromic monogenic disorders, phenotypic variability can be viewed as the combination of …

Despite the advent of genomic sequencing, molecular diagnosis remains unsolved in
approximately half of patients with Mendelian disorders, largely due to unclarified functions …

Discrete categorization of Mendelian disease genes into dominant and recessive models
often oversimplifies their underlying genetic architecture. Cardiomyopathies (CMs) are …