Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.
Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank.
Association of polygenic score for major depression with response to lithium in patients with bipolar disorder.
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation.
A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank.
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.
Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
