New insights into genetic variant spectrum and genotype–phenotype

A Genotype-First Approach to Defining the Subtypes of a Complex Disease: Cell

Association between genetic predisposition and disease burden of stroke in China: a genetic epidemiological study - The Lancet Regional Health – Western Pacific

Genes, Free Full-Text

Insights into the genetic architecture of EE/DEE. Summary of 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

Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study - The Lancet Psychiatry

Frontiers Genetic Characteristics and Variation Spectrum of USH2A-Related Retinitis Pigmentosa and Usher Syndrome

WGS analysis process, including genotype-driven and phenotype-driven

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

The pancreatic β cell: recent insights from human genetics: Trends in Endocrinology & Metabolism

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

JPM, Free Full-Text

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

Genotype-structure-phenotype relationships diverge in paralogs ATP1A1, ATP1A2, and ATP1A3

FinnGen provides genetic insights from a well-phenotyped isolated population