A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Association of Whole-Genome and NETRIN1 Signaling Pathway-Derived Polygenic Risk Scores for Major Depressive Disorder and White Matter Microstructure in the UK Biobank.
Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.
Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
A whole genome approach for discovering the genetic basis of blood group antigens: independent confirmation for P1 and Xga.
