New insights into genetic variant spectrum and genotype–phenotype

GPCards: An integrated database of genotype–phenotype correlations in human genetic diseases - Computational and Structural Biotechnology Journal

Genes, Free Full-Text

Jonathan Pritchard Lab Research

Frontiers Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance

Distinguishing between PTEN clinical phenotypes through mutation analysis - Computational and Structural Biotechnology Journal

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

Bridging genotype to phenotype to simulate evolution. (A) Flowchart of

Schematic representation of genotype-phenotype relationship. The

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

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

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

Epigenomes, Free Full-Text

Nutrients, Free Full-Text

Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies - ScienceDirect

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