De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. All Authors: Author Profiles: Publish Date: Journal: , Read Publication
A resource of lipidomics and metabolomics data from individuals with undiagnosed diseases. All Authors: Author Profiles: Publish Date: Journal: , Read Publication