New insights into genetic variant spectrum and genotype–phenotype

Schematic representation of genotype-phenotype relationship. The

Nutrients, Free Full-Text

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

Precision medicine via the integration of phenotype-genotype information in neonatal genome project - ScienceDirect

New approach successfully traces genomic variants back to genetic disorders

Epigenetics - Wikipedia

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

IJMS, Free Full-Text

Role of genetic architecture in phenotypic plasticity: Trends in Genetics

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications - Andreassen - 2023 - World Psychiatry - Wiley Online Library

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