New insights into genetic variant spectrum and genotype–phenotype

Phenotypic impact of genomic structural variation: insights from and for human disease

The individual and global impact of copy-number variants on complex human traits - 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

Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura

Role of genetic architecture in phenotypic plasticity: Trends in Genetics

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

Multivariate genetic analysis of personality and cognitive traits reveals abundant pleiotropy and improves prediction

New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library

Genetic insights into the neurobiology of anxiety: Trends in Neurosciences

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

Frontiers New Perspectives on Genetic Prediction for Pediatric Metabolic Associated Fatty Liver Disease

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

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