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- Gain‐of‐function variants in the <i>ODC1</i> gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
- JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
- Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed
- Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
- Novel insights into cardiocutaneous syndromes
- Hoxc13 polyglycine repeat gain-of-function drives mammalian integument evolution by altering targeted genes and interactions
- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
- Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes
- <i>PIK3CA</i> gain-of-function mutation in Schwann cells leads to severe neuropathy and aerobic glycolysis through a non-cell autonomous effect
- Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases
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