Canalization, or robustness to genetic or environmental perturbations, is fundamental to
complex organisms. While there is strong evidence for canalization as an evolved property …

Precise regulation of the amplitude and duration of receptor tyrosine kinase (RTK) signaling
is critical for the execution of cellular programs and behaviors. Understanding these control …

Phenotypic plasticity is the ability of a single genotype to vary its phenotype in response to
the environment. Plasticity of the skeletal system in response to mechanical input is widely …

Highlights•Phenotypic expression of a specific mutation can vary across individuals of the
same species.•Monogenic variants might display a continuous expressivity spectrum in …

Peters plus syndrome (MIM# 261540 PTRPLS), characterized by defects in eye
development, prominent forehead, hypertelorism, short stature and brachydactyly, is caused …

Structural variants (SVs) can affect protein-coding sequences as well as gene regulatory
elements. However, SVs disrupting protein-coding sequences that also function as cis …

Realistic map**s of genes to morphology are inherently multivariate on both sides of the
equation. The importance of coordinated gene effects on morphological phenotypes is clear …

We sought to understand how perturbation of signaling pathways and their targets
generates variable phenotypes. In humans, GATA3 associates with highly variable defects …

Complex morphological traits are the product of many genes with transient or lasting
developmental effects that interact in anatomical context. Mouse models are a key resource …

The Sprouty family is a highly conserved group of intracellular modulators of receptor
tyrosine kinase (RTK)‐signaling pathways, which have been recently linked to primary cilia …