Children born small for gestational age (SGA), defined as a birth weight and/or length
below− 2 SD score (SDS), comprise a heterogeneous group. The causes of SGA are …

The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that
regulate multiple physiological processes, including mammalian development, metabolism …

Insulin resistance is a key mediator of obesity-related cardiometabolic disease, yet the
mechanisms underlying this link remain obscure. Using an integrative genomic approach …

Motivation Recent years have witnessed an exponential growth in the number of identified
interactions between biological molecules. These interactions are usually represented as …

Development of the anterior segment of the eye requires reciprocal sequential interactions
between the arising tissues, facilitated by numerous genetic factors. Disruption of any of …

Heterozygous loss-of-function (LOF) mutations in PIK3R1 (encoding phosphatidylinositol 3-
kinase [PI3K] regulatory subunits) cause activated PI3Kδ syndrome 2 (APDS2), which has a …

PIK3R1 (also known as p85α) is a regulatory subunit of phosphoinositide 3-kinases (PI3Ks).
PI3K, a heterodimer of a regulatory subunit and a catalytic subunit, phosphorylates …

Phosphatidylinositol 3-kinase α, a heterodimer of catalytic p110α and one of five regulatory
subunits, mediates insulin-and insulin like growth factor-signaling and, frequently …

Motivation Computationally predicting disease genes helps scientists optimize the in-depth
experimental validation and accelerates the identification of real disease-associated genes …

Purpose Somatic activating variants in the PI3K-AKT pathway cause vascular malformations
with and without overgrowth. We previously reported an individual with capillary and …