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.
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
