New insights into genetic variant spectrum and genotype–phenotype

Frontiers The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype–Phenotype Correlations of the Disease

Genetic basis of mitochondrial diseases - Gusic - 2021 - FEBS Letters - Wiley Online Library

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Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions - Genetics in Medicine Open

Expanding the phenotype half of the genotype−phenotype space

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder

Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis

The complex genetic architecture of Alzheimer's disease: novel insights and future directions - eBioMedicine

Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity - ScienceDirect